Funding
The research leading to these results has received funding from the European Union Seventh Framework Programme (FP7/2007-2013) under grant agreement n 305608.
Publications
The following publications are the result of the successful cooperation of the EURenOmics partners and represent the breadth of the scientific expertise of the consortium.
- NMR and MS urinary metabolic phenotyping in kidney diseases is fit-for-purpose in the presence of a protease inhibitor.
Molecular omics. 2019 Feb 11;15(1):39-49
Authors: Boulangé CL, Rood IM, Posma JM, Lindon JC, Holmes E, Wetzels JFM, Deegens JKJ, Kaluarachchi MR
- Hyperfunctional complement C3 promotes C5-dependent atypical hemolytic uremic syndrome in mice.
The Journal of clinical investigation. 2019 Mar 1;129(3):1061-1075
Authors: Smith-Jackson K, Yang Y, Denton H, Pappworth IY, Cooke K, Barlow PN, Atkinson JP, Liszewski MK, Pickering MC, Kavanagh D, Cook HT, Marchbank KJ
- CKD273 Enables Efficient Prediction of Diabetic Nephropathy in Nonalbuminuric Patients.
Diabetes care. 2019 Jan;42(1):e4-e5
Authors: Zürbig P, Mischak H, Menne J, Haller H
- PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome).
Hypertension research : official journal of the Japanese Society of Hypertension. 2018 Nov;41(11):981-988
Authors: Renkema KY, Westermann JM, Nievelstein RAJ, Lo-A-Njoe SM, van der Zwaag B, Manshande ME, van Haelst MM
- Impact of next generation sequencing on our understanding of CAKUT.
Seminars in cell & developmental biology. 2018 Sep 4;
Authors: Nigam A, Knoers NVAM, Renkema KY
- HLA class II alleles differing by a single amino acid associate with clinical phenotype and outcome in patients with primary membranous nephropathy.
Kidney international. 2018 Nov;94(5):974-982
Authors: Wang HY, Cui Z, Xie LJ, Zhang LJ, Pei ZY, Chen FJ, Qu Z, Huang J, Zhang YM, Wang X, Wang F, Meng LQ, Cheng XY, Liu G, Zhou XJ, Zhang H, Debiec H, Ronco P, Zhao MH
- Exploring the Clinical and Genetic Spectrum of Steroid Resistant Nephrotic Syndrome: The PodoNet Registry.
Frontiers in pediatrics. 2018;6:200
Authors: Trautmann A, Lipska-Ziętkiewicz BS, Schaefer F
- Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Pediatric nephrology (Berlin, Germany). 2018 Oct;33(10):1701-1712
Authors: Stokman MF, van der Zwaag B, van de Kar NCAJ, van Haelst MM, van Eerde AM, van der Heijden JW, Kroes HY, Ippel E, Schulp AJA, van Gassen KL, van Rooij IALM, Giles RH, Beales PL, Roepman R, Arts HH, Bongers EMHF, Renkema KY, Knoers NVAM, van Reeuwijk J, Lilien MR
- Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.
Journal of the American Society of Nephrology : JASN. 2018 Jul;29(7):2000-2013
Authors: Debiec H, Dossier C, Letouzé E, Gillies CE, Vivarelli M, Putler RK, Ars E, Jacqz-Aigrain E, Elie V, Colucci M, Debette S, Amouyel P, Elalaoui SC, Sefiani A, Dubois V, Simon T, Kretzler M, Ballarin J, Emma F, Sampson MG, Deschênes G, Ronco P
- A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.
Nephron. 2018;139(4):359-366
Authors: van der Wijst J, Konrad M, Verkaart SAJ, Tkaczyk M, Latta F, Altmüller J, Thiele H, Beck B, Schlingmann KP, de Baaij JHF
- C-terminal oligomerization of podocin mediates interallelic interactions.
Biochimica et biophysica acta. Molecular basis of disease. 2018 Jul;1864(7):2448-2457
Authors: Stráner P, Balogh E, Schay G, Arrondel C, Mikó Á, L'Auné G, Benmerah A, Perczel A, K Menyhárd D, Antignac C, Mollet G, Tory K
- Dominant functional role of the novel phosphorylation site S811 in the human renal NaCl cotransporter.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2018 Aug;32(8):4482-4493
Authors: Tutakhel OAZ, Bianchi F, Smits DA, Bindels RJM, Hoenderop JGJ, van der Wijst J
- Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
Journal of immunology (Baltimore, Md. : 1950). 2018 Apr 1;200(7):2464-2478
Authors: Osborne AJ, Breno M, Borsa NG, Bu F, Frémeaux-Bacchi V, Gale DP, van den Heuvel LP, Kavanagh D, Noris M, Pinto S, Rallapalli PM, Remuzzi G, Rodríguez de Cordoba S, Ruiz A, Smith RJH, Vieira-Martins P, Volokhina E, Wilson V, Goodship THJ, Perkins SJ
- Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT).
Kidney international. 2018 May;93(5):1142-1153
Authors: Neirijnck Y, Reginensi A, Renkema KY, Massa F, Kozlov VM, Dhib H, Bongers EMHF, Feitz WF, van Eerde AM, Lefebvre V, Knoers NVAM, Tabatabaei M, Schulz H, McNeill H, Schaefer F, Wegner M, Sock E, Schedl A
- DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Human molecular genetics. 2018 Feb 1;27(3):529-545
Authors: Hartill VL, van de Hoek G, Patel MP, Little R, Watson CM, Berry IR, Shoemark A, Abdelmottaleb D, Parkes E, Bacchelli C, Szymanska K, Knoers NV, Scambler PJ, Ueffing M, Boldt K, Yates R, Winyard PJ, Adler B, Moya E, Hattingh L, Shenoy A, Hogg C, Sheridan E, Roepman R, Norris D, Mitchison HM, Giles RH, Johnson CA
- Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.
The Journal of biological chemistry. 2018 Mar 16;293(11):4122-4133
Authors: Serrano-Perez MC, Tilley FC, Nevo F, Arrondel C, Sbissa S, Martin G, Tory K, Antignac C, Mollet G
- The von Hippel-Lindau Gene Is Required to Maintain Renal Proximal Tubule and Glomerulus Integrity in Zebrafish Larvae.
Nephron. 2018;138(4):310-323
Authors: van Rooijen E, van de Hoek G, Logister I, Ajzenberg H, Knoers NVAM, van Eeden F, Voest EE, Schulte-Merker S, Giles RH
- Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney.
Nature communications. 2018 Jan 11;9(1):161
Authors: Festa BP, Chen Z, Berquez M, Debaix H, Tokonami N, Prange JA, Hoek GV, Alessio C, Raimondi A, Nevo N, Giles RH, Devuyst O, Luciani A
- Effects of a high-sodium/low-potassium diet on renal calcium, magnesium, and phosphate handling.
American journal of physiology. Renal physiology. 2018 Jul 1;315(1):F110-F122
Authors: van der Wijst J, Tutakhel OAZ, Bos C, Danser AHJ, Hoorn EJ, Hoenderop JGJ, Bindels RJM
- Membranal and Blood-Soluble HLA Class II Peptidome Analyses Using Data-Dependent and Independent Acquisition.
Proteomics. 2018 Jun;18(12):e1700246
Authors: Ritz D, Sani E, Debiec H, Ronco P, Neri D, Fugmann T
- Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Kidney international. 2018 Apr;93(4):961-967
Authors: Ashton EJ, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC, Jeunemaitre X, Iancu D, Van't Hoff WG, Walsh SB, Godefroid N, Rotthier A, Del Favero J, Devuyst O, Schaefer F, Jenkins LA, Kleta R, Dahan K, Vargas-Poussou R, Bockenhauer D
- TCF21 hypermethylation regulates renal tumor cell clonogenic proliferation and migration.
Molecular oncology. 2018 Feb;12(2):166-179
Authors: Gooskens SL, Klasson TD, Gremmels H, Logister I, Pieters R, Perlman EJ, Giles RH, van den Heuvel-Eibrink MM
- HNF1B controls epithelial organization and cell polarity during ureteric bud branching and collecting duct morphogenesis.
Development (Cambridge, England). 2017 Dec 15;144(24):4704-4719
Authors: Desgrange A, Heliot C, Skovorodkin I, Akram SU, Heikkilä J, Ronkainen VP, Miinalainen I, Vainio SJ, Cereghini S
- Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.
Clinical journal of the American Society of Nephrology : CJASN. 2018 Feb 7;13(2):242-250
Authors: Legrand A, Treard C, Roncelin I, Dreux S, Bertholet-Thomas A, Broux F, Bruno D, Decramer S, Deschenes G, Djeddi D, Guigonis V, Jay N, Khalifeh T, Llanas B, Morin D, Morin G, Nobili F, Pietrement C, Ryckewaert A, Salomon R, Vrillon I, Blanchard A, Vargas-Poussou R
- Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
Clinical journal of the American Society of Nephrology : CJASN. 2018 Jan 6;13(1):53-62
Authors: Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F
- Phospholipase A2 Receptor 1 Epitope Spreading at Baseline Predicts Reduced Likelihood of Remission of Membranous Nephropathy.
Journal of the American Society of Nephrology : JASN. 2018 Feb;29(2):401-408
Authors: Seitz-Polski B, Debiec H, Rousseau A, Dahan K, Zaghrini C, Payré C, Esnault VLM, Lambeau G, Ronco P
- Association of Serum Soluble Urokinase Receptor Levels With Progression of Kidney Disease in Children.
JAMA pediatrics. 2017 Nov 6;171(11):e172914
Authors: Schaefer F, Trachtman H, Wühl E, Kirchner M, Hayek SS, Anarat A, Duzova A, Mir S, Paripovic D, Yilmaz A, Lugani F, Arbeiter K, Litwin M, Oh J, Matteucci MC, Gellermann J, Wygoda S, Jankauskiene A, Klaus G, Dusek J, Testa S, Zurowska A, Caldas Afonso A, Tracy M, Wei C, Sever S, Smoyer W, Reiser J, ESCAPE Trial Consortium and the 4C Study Group.
- Genetics of membranous nephropathy.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2018 Sep 1;33(9):1493-1502
Authors: Gupta S, Köttgen A, Hoxha E, Brenchley P, Bockenhauer D, Stanescu HC, Kleta R
- Human plasma C3 is essential for the development of memory B, but not T, lymphocytes.
The Journal of allergy and clinical immunology. 2018 Mar;141(3):1151-1154.e14
Authors: Jiménez-Reinoso A, Marin AV, Subias M, López-Lera A, Román-Ortiz E, Payne K, Ma CS, Arbore G, Kolev M, Freeley SJ, Kemper C, Tangye SG, Fernández-Malavé E, Rodríguez de Córdoba S, López-Trascasa M, Regueiro JR
- Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
American journal of human genetics. 2017 Nov 2;101(5):803-814
Authors: De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F, Fouquet S, Desgrange A, Niel O, Bole-Feysot C, Nitschké P, Roume J, Cordier MP, Pietrement C, Isidor B, Khau Van Kien P, Gonzales M, Saint-Frison MH, Martinovic J, Novo R, Piard J, Cabrol C, Verma IC, Puri R, Journel H, Aziza J, Gavard L, Said-Menthon MH, Heidet L, Saunier S, Jeanpierre C
- Genome-Wide Meta-Analysis Unravels Interactions between Magnesium Homeostasis and Metabolic Phenotypes.
Journal of the American Society of Nephrology : JASN. 2018 Jan;29(1):335-348
Authors: Corre T, Arjona FJ, Hayward C, Youhanna S, de Baaij JHF, Belge H, Nägele N, Debaix H, Blanchard MG, Traglia M, Harris SE, Ulivi S, Rueedi R, Lamparter D, Macé A, Sala C, Lenarduzzi S, Ponte B, Pruijm M, Ackermann D, Ehret G, Baptista D, Polasek O, Rudan I, Hurd TW, Hastie ND, Vitart V, Waeber G, Kutalik Z, Bergmann S, Vargas-Poussou R, Konrad M, Gasparini P, Deary IJ, Starr JM, Toniolo D, Vollenweider P, Hoenderop JGJ, Bindels RJM, Bochud M, Devuyst O
- Renal carcinoma/kidney progenitor cell chimera organoid as a novel tumorigenesis gene discovery model.
Disease models & mechanisms. 2017 Dec 19;10(12):1503-1515
Authors: Xu Q, Junttila S, Scherer A, Giri KR, Kivelä O, Skovorodkin I, Röning J, Quaggin SE, Marti HP, Shan J, Samoylenko A, Vainio SJ
- Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.
Pediatric nephrology (Berlin, Germany). 2018 Mar;33(3):473-483
Authors: Dorval G, Gribouval O, Martinez-Barquero V, Machuca E, Tête MJ, Baudouin V, Benoit S, Chabchoub I, Champion G, Chauveau D, Chehade H, Chouchane C, Cloarec S, Cochat P, Dahan K, Dantal J, Delmas Y, Deschênes G, Dolhem P, Durand D, Ekinci Z, El Karoui K, Fischbach M, Grunfeld JP, Guigonis V, Hachicha M, Hogan J, Hourmant M, Hummel A, Kamar N, Krummel T, Lacombe D, Llanas B, Mesnard L, Mohsin N, Niaudet P, Nivet H, Parvex P, Pietrement C, de Pontual L, Noble CP, Ribes D, Ronco P, Rondeau E, Sallee M, Tsimaratos M, Ulinski T, Salomon R, Antignac C, Boyer O
- An inducible mouse model of podocin-mutation-related nephrotic syndrome.
PloS one. 2017;12(10):e0186574
Authors: Tabatabaeifar M, Wlodkowski T, Simic I, Denc H, Mollet G, Weber S, Moyers JJ, Brühl B, Randles MJ, Lennon R, Antignac C, Schaefer F
- Cluster Analysis Identifies Distinct Pathogenetic Patterns in C3 Glomerulopathies/Immune Complex-Mediated Membranoproliferative GN.
Journal of the American Society of Nephrology : JASN. 2018 Jan;29(1):283-294
Authors: Iatropoulos P, Daina E, Curreri M, Piras R, Valoti E, Mele C, Bresin E, Gamba S, Alberti M, Breno M, Perna A, Bettoni S, Sabadini E, Murer L, Vivarelli M, Noris M, Remuzzi G, Registry of Membranoproliferative Glomerulonephritis/C3 Glomerulopathy., Nastasi.
- Suppression of microRNA Activity in Kidney Collecting Ducts Induces Partial Loss of Epithelial Phenotype and Renal Fibrosis.
Journal of the American Society of Nephrology : JASN. 2018 Feb;29(2):518-531
Authors: Hajarnis S, Yheskel M, Williams D, Brefort T, Glaudemans B, Debaix H, Baum M, Devuyst O, Patel V
- Analysis of renal blood flow and renal volume in normal fetuses and in fetuses with a solitary functioning kidney.
Prenatal diagnosis. 2017 Dec;37(12):1213-1218
Authors: Hindryckx A, Raaijmakers A, Levtchenko E, Allegaert K, De Catte L
- Factor H Competitor Generated by Gene Conversion Events Associates with Atypical Hemolytic Uremic Syndrome.
Journal of the American Society of Nephrology : JASN. 2018 Jan;29(1):240-249
Authors: Goicoechea de Jorge E, Tortajada A, García SP, Gastoldi S, Merinero HM, García-Fernández J, Arjona E, Cao M, Remuzzi G, Noris M, Rodríguez de Córdoba S
- Clinicians' attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease.
PloS one. 2017;12(9):e0185779
Authors: De Rechter S, Kringen J, Janssens P, Liebau MC, Devriendt K, Levtchenko E, Bergmann C, Jouret F, Bammens B, Borry P, Schaefer F, Mekahli D
- Efficacy and Safety of Rituximab in Hepatitis B Virus-Associated PLA2R-Positive Membranous Nephropathy.
Kidney international reports. 2018 Mar;3(2):486-491
Authors: Berchtold L, Zanetta G, Dahan K, Mihout F, Peltier J, Guerrot D, Brochériou I, Ronco P, Debiec H
- Complete functional characterization of disease-associated genetic variants in the complement factor H gene.
Kidney international. 2018 Feb;93(2):470-481
Authors: Merinero HM, García SP, García-Fernández J, Arjona E, Tortajada A, Rodríguez de Córdoba S
- A retrospective study of pregnancy-associated atypical hemolytic uremic syndrome.
Kidney international. 2018 Feb;93(2):450-459
Authors: Huerta A, Arjona E, Portoles J, Lopez-Sanchez P, Rabasco C, Espinosa M, Cavero T, Blasco M, Cao M, Manrique J, Cabello-Chavez V, Suñer M, Heras M, Fulladosa X, Belmar L, Sempere A, Peralta C, Castillo L, Arnau A, Praga M, Rodriguez de Cordoba S
- A population-based approach to assess the heritability and distribution of renal handling of electrolytes.
Kidney international. 2017 Dec;92(6):1536-1543
Authors: Moulin F, Ponte B, Pruijm M, Ackermann D, Bouatou Y, Guessous I, Ehret G, Bonny O, Pechère-Bertschi A, Staessen JA, Paccaud F, Martin PY, Burnier M, Vogt B, Devuyst O, Bochud M
- Genetics of Immune-Mediated Glomerular Diseases: Focus on Complement.
Seminars in nephrology. 2017 Sep;37(5):447-463
Authors: Noris M, Remuzzi G
- Streptococcus pneumoniae From Patients With Hemolytic Uremic Syndrome Binds Human Plasminogen via the Surface Protein PspC and Uses Plasmin to Damage Human Endothelial Cells.
The Journal of infectious diseases. 2018 Jan 17;217(3):358-370
Authors: Meinel C, Spartà G, Dahse HM, Hörhold F, König R, Westermann M, Coldewey SM, Cseresnyés Z, Figge MT, Hammerschmidt S, Skerka C, Zipfel PF
- Data-Independent Acquisition of HLA Class I Peptidomes on the Q Exactive Mass Spectrometer Platform.
Proteomics. 2017 Oct;17(19)
Authors: Ritz D, Kinzi J, Neri D, Fugmann T
- Transcriptome-based network analysis reveals renal cell type-specific dysregulation of hypoxia-associated transcripts.
Scientific reports. 2017 Aug 17;7(1):8576
Authors: Shved N, Warsow G, Eichinger F, Hoogewijs D, Brandt S, Wild P, Kretzler M, Cohen CD, Lindenmeyer MT
- HaploForge: a comprehensive pedigree drawing and haplotype visualization web application.
Bioinformatics (Oxford, England). 2017 Dec 15;33(24):3871-3877
Authors: Tekman M, Medlar A, Mozere M, Kleta R, Stanescu H
- Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Nature genetics. 2017 Oct;49(10):1529-1538
Authors: Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F
- How novel structures inform understanding of complement function.
Seminars in immunopathology. 2018 Jan;40(1):3-14
Authors: de Jorge EG, Yebenes H, Serna M, Tortajada A, Llorca O, de Córdoba SR
- Circulating Antibodies against Thrombospondin Type-I Domain-Containing 7A in Chinese Patients with Idiopathic Membranous Nephropathy.
Clinical journal of the American Society of Nephrology : CJASN. 2017 Oct 6;12(10):1642-1651
Authors: Wang J, Cui Z, Lu J, Probst C, Zhang YM, Wang X, Qu Z, Wang F, Meng LQ, Cheng XY, Liu G, Debiec H, Ronco P, Zhao MH
- Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
PloS one. 2017;12(8):e0180926
Authors: Lipska-Ziętkiewicz BS, Gellermann J, Boyer O, Gribouval O, Ziętkiewicz S, Kari JA, Shalaby MA, Ozaltin F, Dusek J, Melk A, Bayazit AK, Massella L, Hyla-Klekot L, Habbig S, Godron A, Szczepańska M, Bieniaś B, Drożdż D, Odeh R, Jarmużek W, Zachwieja K, Trautmann A, Antignac C, Schaefer F, PodoNet Consortium.
- Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics. 2018 Feb;20(2):190-201
Authors: Hadj-Rabia S, Brideau G, Al-Sarraj Y, Maroun RC, Figueres ML, Leclerc-Mercier S, Olinger E, Baron S, Chaussain C, Nochy D, Taha RZ, Knebelmann B, Joshi V, Curmi PA, Kambouris M, Vargas-Poussou R, Bodemer C, Devuyst O, Houillier P, El-Shanti H
- PLA2R binds to the annexin A2-S100A10 complex in human podocytes.
Scientific reports. 2017 Jul 31;7(1):6876
Authors: Fresquet M, Jowitt TA, McKenzie EA, Ball MD, Randles MJ, Lennon R, Brenchley PE
- EURenOmics Joint Annual Meeting. May 3-5, 2017, Berlin, Germany: Abstracts.
Nephron. 2017 Jul 28;:155-167
Authors:
- Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland.
Kidney international. 2017 Nov;92(5):1261-1271
Authors: Brocklebank V, Johnson S, Sheerin TP, Marks SD, Gilbert RD, Tyerman K, Kinoshita M, Awan A, Kaur A, Webb N, Hegde S, Finlay E, Fitzpatrick M, Walsh PR, Wong EKS, Booth C, Kerecuk L, Salama AD, Almond M, Inward C, Goodship TH, Sheerin NS, Marchbank KJ, Kavanagh D
- Potential and pitfalls in the genetic diagnosis of kidney diseases.
Clinical kidney journal. 2017 Oct;10(5):581-585
Authors: Kesselheim A, Ashton E, Bockenhauer D
- C5 nephritic factors drive the biological phenotype of C3 glomerulopathies.
Kidney international. 2017 Nov;92(5):1232-1241
Authors: Marinozzi MC, Chauvet S, Le Quintrec M, Mignotet M, Petitprez F, Legendre C, Cailliez M, Deschenes G, Fischbach M, Karras A, Nobili F, Pietrement C, Dragon-Durey MA, Fakhouri F, Roumenina LT, Fremeaux-Bacchi V
- Use of the complement inhibitor Coversin to treat HSCT-associated TMA.
Blood advances. 2017 Jul 11;1(16):1254-1258
Authors: Goodship THJ, Pinto F, Weston-Davies WH, Silva J, Nishimura JI, Nunn MA, Mackie I, Machin SJ, Palm L, Pryce JW, Chiesa R, Amrolia P, Veys P
- Fainting Fanconi syndrome clarified by proxy: a case report.
BMC nephrology. 2017 Jul 11;18(1):230
Authors: Walsh SB, Unwin R, Kleta R, Van't Hoff W, Bass P, Hussain K, Ellard S, Bockenhauer D
- Interaction between Multimeric von Willebrand Factor and Complement: A Fresh Look to the Pathophysiology of Microvascular Thrombosis.
Journal of immunology (Baltimore, Md. : 1950). 2017 Aug 1;199(3):1021-1040
Authors: Bettoni S, Galbusera M, Gastoldi S, Donadelli R, Tentori C, Spartà G, Bresin E, Mele C, Alberti M, Tortajada A, Yebenes H, Remuzzi G, Noris M
- Membranous nephropathy: a retrospective observational study of membranous nephropathy in north east and central London.
BMC nephrology. 2017 Jun 21;18(1):201
Authors: Gupta S, Connolly J, Pepper RJ, Walsh SB, Yaqoob MM, Kleta R, Ashman N
- Elevated factor H-related protein 1 and factor H pathogenic variants decrease complement regulation in IgA nephropathy.
Kidney international. 2017 Oct;92(4):953-963
Authors: Tortajada A, Gutiérrez E, Goicoechea de Jorge E, Anter J, Segarra A, Espinosa M, Blasco M, Roman E, Marco H, Quintana LF, Gutiérrez J, Pinto S, Lopez-Trascasa M, Praga M, Rodriguez de Córdoba S
- A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2017 Dec 1;32(12):1994-1999
Authors: Edwards N, Olinger E, Adam J, Kelly M, Schiano G, Ramsbottom SA, Sandford R, Devuyst O, Sayer JA
- Hemolytic Uremic Syndrome in Pregnancy and Postpartum.
Clinical journal of the American Society of Nephrology : CJASN. 2017 Aug 7;12(8):1237-1247
Authors: Bruel A, Kavanagh D, Noris M, Delmas Y, Wong EKS, Bresin E, Provôt F, Brocklebank V, Mele C, Remuzzi G, Loirat C, Frémeaux-Bacchi V, Fakhouri F
- A podocyte view of membranous nephropathy: from Heymann nephritis to the childhood human disease.
Pflugers Archiv : European journal of physiology. 2017 Aug;469(7-8):997-1005
Authors: Ronco P, Debiec H
- Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children.
Journal of the American Society of Nephrology : JASN. 2017 Oct;28(10):3055-3065
Authors: Trautmann A, Schnaidt S, Lipska-Ziętkiewicz BS, Bodria M, Ozaltin F, Emma F, Anarat A, Melk A, Azocar M, Oh J, Saeed B, Gheisari A, Caliskan S, Gellermann J, Higuita LMS, Jankauskiene A, Drozdz D, Mir S, Balat A, Szczepanska M, Paripovic D, Zurowska A, Bogdanovic R, Yilmaz A, Ranchin B, Baskin E, Erdogan O, Remuzzi G, Firszt-Adamczyk A, Kuzma-Mroczkowska E, Litwin M, Murer L, Tkaczyk M, Jardim H, Wasilewska A, Printza N, Fidan K, Simkova E, Borzecka H, Staude H, Hees K, Schaefer F, PodoNet Consortium.
- Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
Journal of the American Society of Nephrology : JASN. 2017 Oct;28(10):2901-2914
Authors: Heidet L, Morinière V, Henry C, De Tomasi L, Reilly ML, Humbert C, Alibeu O, Fourrage C, Bole-Feysot C, Nitschké P, Tores F, Bras M, Jeanpierre M, Pietrement C, Gaillard D, Gonzales M, Novo R, Schaefer E, Roume J, Martinovic J, Malan V, Salomon R, Saunier S, Antignac C, Jeanpierre C
- Loss of transcriptional activation of the potassium channel Kir5.1 by HNF1β drives autosomal dominant tubulointerstitial kidney disease.
Kidney international. 2017 Nov;92(5):1145-1156
Authors: Kompatscher A, de Baaij JHF, Aboudehen K, Hoefnagels APWM, Igarashi P, Bindels RJM, Veenstra GJC, Hoenderop JGJ
- FHR-1 Binds to C-Reactive Protein and Enhances Rather than Inhibits Complement Activation.
Journal of immunology (Baltimore, Md. : 1950). 2017 Jul 1;199(1):292-303
Authors: Csincsi ÁI, Szabó Z, Bánlaki Z, Uzonyi B, Cserhalmi M, Kárpáti É, Tortajada A, Caesar JJE, Prohászka Z, Jokiranta TS, Lea SM, Rodríguez de Córdoba S, Józsi M
- The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε.
Journal of the American Society of Nephrology : JASN. 2017 Oct;28(10):3066-3075
Authors: Azukaitis K, Simkova E, Majid MA, Galiano M, Benz K, Amann K, Bockmeyer C, Gajjar R, Meyers KE, Cheong HI, Lange-Sperandio B, Jungraithmayr T, Frémeaux-Bacchi V, Bergmann C, Bereczki C, Miklaszewska M, Csuka D, Prohászka Z, Killen P, Gipson P, Sampson MG, Lemaire M, Schaefer F
- Safety of Rituximab Compared with Steroids and Cyclophosphamide for Idiopathic Membranous Nephropathy.
Journal of the American Society of Nephrology : JASN. 2017 Sep;28(9):2729-2737
Authors: van den Brand JAJG, Ruggenenti P, Chianca A, Hofstra JM, Perna A, Ruggiero B, Wetzels JFM, Remuzzi G
- NaCl cotransporter abundance in urinary vesicles is increased by calcineurin inhibitors and predicts thiazide sensitivity.
PloS one. 2017;12(4):e0176220
Authors: Tutakhel OAZ, Moes AD, Valdez-Flores MA, Kortenoeven MLA, Vrie MVD, Jeleń S, Fenton RA, Zietse R, Hoenderop JGJ, Hoorn EJ, Hilbrands L, Bindels RJM
- Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK.
BMC nephrology. 2017 Apr 18;18(1):136
Authors: Issler N, Dufek S, Kleta R, Bockenhauer D, Smeulders N, Van't Hoff W
- Crystal Structure of Glyceraldehyde-3-Phosphate Dehydrogenase from the Gram-Positive Bacterial Pathogen A. vaginae, an Immunoevasive Factor that Interacts with the Human C5a Anaphylatoxin.
Frontiers in microbiology. 2017;8:541
Authors: Querol-García J, Fernández FJ, Marin AV, Gómez S, Fullà D, Melchor-Tafur C, Franco-Hidalgo V, Albertí S, Juanhuix J, Rodríguez de Córdoba S, Regueiro JR, Vega MC
- Clinical and Genetic Spectrum of Bartter Syndrome Type 3.
Journal of the American Society of Nephrology : JASN. 2017 Aug;28(8):2540-2552
Authors: Seys E, Andrini O, Keck M, Mansour-Hendili L, Courand PY, Simian C, Deschenes G, Kwon T, Bertholet-Thomas A, Bobrie G, Borde JS, Bourdat-Michel G, Decramer S, Cailliez M, Krug P, Cozette P, Delbet JD, Dubourg L, Chaveau D, Fila M, Jourde-Chiche N, Knebelmann B, Lavocat MP, Lemoine S, Djeddi D, Llanas B, Louillet F, Merieau E, Mileva M, Mota-Vieira L, Mousson C, Nobili F, Novo R, Roussey-Kesler G, Vrillon I, Walsh SB, Teulon J, Blanchard A, Vargas-Poussou R
- Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
Journal of the American Society of Nephrology : JASN. 2017 Aug;28(8):2529-2539
Authors: Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D
- Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment.
Pediatric nephrology (Berlin, Germany). 2017 Aug;32(8):1369-1375
Authors: Atmaca M, Gulhan B, Korkmaz E, Inozu M, Soylemezoglu O, Candan C, Bayazıt AK, Elmacı AM, Parmaksiz G, Duzova A, Besbas N, Topaloglu R, Ozaltin F
- A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress.
Disease models & mechanisms. 2017 Jun 1;10(6):773-786
Authors: Piret SE, Olinger E, Reed AAC, Nesbit MA, Hough TA, Bentley L, Devuyst O, Cox RD, Thakker RV
- B- and T-cell subpopulations in patients with severe idiopathic membranous nephropathy may predict an early response to rituximab.
Kidney international. 2017 Jul;92(1):227-237
Authors: Rosenzwajg M, Languille E, Debiec H, Hygino J, Dahan K, Simon T, Klatzmann D, Ronco P
- Ionic tethering contributes to the conformational stability and function of complement C3b.
Molecular immunology. 2017 May;85:137-147
Authors: López-Perrote A, Harrison RE, Subías M, Alcorlo M, Rodríguez de Córdoba S, Morikis D, Llorca O
- Hydrochlorothiazide treatment increases the abundance of the NaCl cotransporter in urinary extracellular vesicles of essential hypertensive patients.
American journal of physiology. Renal physiology. 2017 Jun 1;312(6):F1063-F1072
Authors: Pathare G, Tutakhel OAZ, van der Wel MC, Shelton LM, Deinum J, Lenders JWM, Hoenderop JGJ, Bindels RJM
- Prognostic value of PLA2R autoimmunity detected by measurement of anti-PLA2R antibodies combined with detection of PLA2R antigen in membranous nephropathy: A single-centre study over 14 years.
PloS one. 2017;12(3):e0173201
Authors: Pourcine F, Dahan K, Mihout F, Cachanado M, Brocheriou I, Debiec H, Ronco P
- Eculizumab in secondary atypical haemolytic uraemic syndrome.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2017 Mar 1;32(3):466-474
Authors: Cavero T, Rabasco C, López A, Román E, Ávila A, Sevillano Á, Huerta A, Rojas-Rivera J, Fuentes C, Blasco M, Jarque A, García A, Mendizabal S, Gavela E, Macía M, Quintana LF, María Romera A, Borrego J, Arjona E, Espinosa M, Portolés J, Gracia-Iguacel C, González-Parra E, Aljama P, Morales E, Cao M, Rodríguez de Córdoba S, Praga M
- Changing Current Practice in Urology: Improving Guideline Development and Implementation Through Stakeholder Engagement.
European urology. 2017 Aug;72(2):161-163
Authors: MacLennan SJ, MacLennan S, Bex A, Catto JWF, De Santis M, Glaser AW, Ljungberg B, N'Dow J, Plass K, Trapero-Bertran M, Van Poppel H, Wright P, Giles RH
- Novel fixed z-direction (FiZD) kidney primordia and an organoid culture system for time-lapse confocal imaging.
Development (Cambridge, England). 2017 Mar 15;144(6):1113-1117
Authors: Saarela U, Akram SU, Desgrange A, Rak-Raszewska A, Shan J, Cereghini S, Ronkainen VP, Heikkilä J, Skovorodkin I, Vainio SJ
- Digital pathology imaging as a novel platform for standardization and globalization of quantitative nephropathology.
Clinical kidney journal. 2017 Apr;10(2):176-187
Authors: Barisoni L, Gimpel C, Kain R, Laurinavicius A, Bueno G, Zeng C, Liu Z, Schaefer F, Kretzler M, Holzman LB, Hewitt SM
- Clinical and molecular aspects of distal renal tubular acidosis in children.
Pediatric nephrology (Berlin, Germany). 2017 Jun;32(6):987-996
Authors: Besouw MTP, Bienias M, Walsh P, Kleta R, Van't Hoff WG, Ashton E, Jenkins L, Bockenhauer D
- Functional and structural characterization of four mouse monoclonal antibodies to complement C3 with potential therapeutic and diagnostic applications.
European journal of immunology. 2017 Mar;47(3):504-515
Authors: Subías Hidalgo M, Yébenes H, Rodríguez-Gallego C, Martín-Ambrosio A, Domínguez M, Tortajada A, Rodríguez de Córdoba S, Llorca O
- Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
The Journal of clinical investigation. 2017 Mar 1;127(3):912-928
Authors: Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussée N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, Désir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba JD, Hildebrandt F
- Bone marrow transplantation improves proximal tubule dysfunction in a mouse model of Dent disease.
Kidney international. 2017 Apr;91(4):842-855
Authors: Gabriel SS, Belge H, Gassama A, Debaix H, Luciani A, Fehr T, Devuyst O
- Genetics of kidney disease in 2016: Ingenious tactics to unravel complex kidney disease genetics.
Nature reviews. Nephrology. 2017 Jan 19;13(2):67-68
Authors: Renkema KY, Knoers NV
- Anti-Factor B and Anti-C3b Autoantibodies in C3 Glomerulopathy and Ig-Associated Membranoproliferative GN.
Journal of the American Society of Nephrology : JASN. 2017 May;28(5):1603-1613
Authors: Marinozzi MC, Roumenina LT, Chauvet S, Hertig A, Bertrand D, Olagne J, Frimat M, Ulinski T, Deschênes G, Burtey S, Delahousse M, Moulin B, Legendre C, Frémeaux-Bacchi V, Le Quintrec M
- Treatment of B-cell disorder improves renal outcome of patients with monoclonal gammopathy-associated C3 glomerulopathy.
Blood. 2017 Mar 16;129(11):1437-1447
Authors: Chauvet S, Frémeaux-Bacchi V, Petitprez F, Karras A, Daniel L, Burtey S, Choukroun G, Delmas Y, Guerrot D, François A, Le Quintrec M, Javaugue V, Ribes D, Vrigneaud L, Arnulf B, Goujon JM, Ronco P, Touchard G, Bridoux F
- Membranous nephropathy: integrating basic science into improved clinical management.
Kidney international. 2017 Mar;91(3):566-574
Authors: Cattran DC, Brenchley PE
- Urea is successful in treating inappropriate antidiuretic hormone secretion in an infant.
Acta paediatrica (Oslo, Norway : 1992). 2017 Mar;106(3):513-515
Authors: Dufek S, Booth C, Carroll A, Van't Hoff W, Kleta R, Bockenhauer D
- Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
Kidney international. 2017 Jan;91(1):24-33
Authors: Blanchard A, Bockenhauer D, Bolignano D, Calò LA, Cosyns E, Devuyst O, Ellison DH, Karet Frankl FE, Knoers NV, Konrad M, Lin SH, Vargas-Poussou R
- The MHC Class II Immunopeptidome of Lymph Nodes in Health and in Chemically Induced Colitis.
Journal of immunology (Baltimore, Md. : 1950). 2017 Feb 1;198(3):1357-1364
Authors: Fugmann T, Sofron A, Ritz D, Bootz F, Neri D
- Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
Kidney international. 2017 Mar;91(3):539-551
Authors: Goodship TH, Cook HT, Fakhouri F, Fervenza FC, Frémeaux-Bacchi V, Kavanagh D, Nester CM, Noris M, Pickering MC, Rodríguez de Córdoba S, Roumenina LT, Sethi S, Smith RJ, Conference Participants.
- Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease.
Journal of the American Society of Nephrology : JASN. 2017 Apr;28(4):1084-1091
Authors: Challis RC, Ring T, Xu Y, Wong EK, Flossmann O, Roberts IS, Ahmed S, Wetherall M, Salkus G, Brocklebank V, Fester J, Strain L, Wilson V, Wood KM, Marchbank KJ, Santibanez-Koref M, Goodship TH, Kavanagh D
- Common single nucleotide polymorphisms in transient receptor potential melastatin type 6 increase the risk for proton pump inhibitor-induced hypomagnesemia: a case-control study.
Pharmacogenetics and genomics. 2017 Mar;27(3):83-88
Authors: Hess MW, de Baaij JH, Broekman MM, Bisseling TM, Haarhuis BJ, Tan AC, Te Morsche RH, Hoenderop JG, Bindels RJ, Drenth JP
- Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine.
Pflugers Archiv : European journal of physiology. 2017 Jan;469(1):91-103
Authors: Corre T, Olinger E, Harris SE, Traglia M, Ulivi S, Lenarduzzi S, Belge H, Youhanna S, Tokonami N, Bonny O, Houillier P, Polasek O, Deary IJ, Starr JM, Toniolo D, Gasparini P, Vollenweider P, Hayward C, Bochud M, Devuyst O
- The Human Phenotype Ontology in 2017.
Nucleic acids research. 2017 Jan 4;45(D1):D865-D876
Authors: Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN
- MHC Class II Risk Alleles and Amino Acid Residues in Idiopathic Membranous Nephropathy.
Journal of the American Society of Nephrology : JASN. 2017 May;28(5):1651-1664
Authors: Cui Z, Xie LJ, Chen FJ, Pei ZY, Zhang LJ, Qu Z, Huang J, Gu QH, Zhang YM, Wang X, Wang F, Meng LQ, Liu G, Zhou XJ, Zhu L, Lv JC, Liu F, Zhang H, Liao YH, Lai LH, Ronco P, Zhao MH
- Urinary biomarkers for renal tract malformations.
Expert review of proteomics. 2016 Dec;13(12):1121-1129
Authors: Magalhães P, Schanstra JP, Carrick E, Mischak H, Zürbig P
- Purification of soluble HLA class I complexes from human serum or plasma deliver high quality immuno peptidomes required for biomarker discovery.
Proteomics. 2017 Jan;17(1-2)
Authors: Ritz D, Gloger A, Neri D, Fugmann T
- Urinary proteomics using capillary electrophoresis coupled to mass spectrometry for diagnosis and prognosis in kidney diseases.
Current opinion in nephrology and hypertension. 2016 Nov;25(6):494-501
Authors: Magalhães P, Mischak H, Zürbig P
- Endothelial cells: source, barrier, and target of defensive mediators.
Immunological reviews. 2016 Nov;274(1):307-329
Authors: Roumenina LT, Rayes J, Frimat M, Fremeaux-Bacchi V
- Intravenous pulse cyclophosphamide and steroids induce immunological and clinical remission in New-incident and relapsing primary membranous nephropathy.
Nephrology (Carlton, Vic.). 2018 Jan;23(1):60-68
Authors: Kanigicherla DAK, Hamilton P, Czapla K, Brenchley PE
- Infrared vibrational spectroscopy: a rapid and novel diagnostic and monitoring tool for cystinuria.
Scientific reports. 2016 Oct 10;6:34737
Authors: Oliver KV, Vilasi A, Maréchal A, Moochhala SH, Unwin RJ, Rich PR
- Determinants of hypomagnesemia in patients with type 2 diabetes mellitus.
European journal of endocrinology. 2017 Jan;176(1):11-19
Authors: Kurstjens S, de Baaij JH, Bouras H, Bindels RJ, Tack CJ, Hoenderop JG
- A capillary electrophoresis coupled to mass spectrometry pipeline for long term comparable assessment of the urinary metabolome.
Scientific reports. 2016 Oct 3;6:34453
Authors: Boizard F, Brunchault V, Moulos P, Breuil B, Klein J, Lounis N, Caubet C, Tellier S, Bascands JL, Decramer S, Schanstra JP, Buffin-Meyer B
- Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.
Journal of the American Society of Nephrology : JASN. 2017 Mar;28(3):963-970
Authors: Forsythe E, Sparks K, Best S, Borrows S, Hoskins B, Sabir A, Barrett T, Williams D, Mohammed S, Goldsmith D, Milford DV, Bockenhauer D, Foggensteiner L, Beales PL
- PKA inhibits WNT signalling in adrenal cortex zonation and prevents malignant tumour development.
Nature communications. 2016 Sep 14;7:12751
Authors: Drelon C, Berthon A, Sahut-Barnola I, Mathieu M, Dumontet T, Rodriguez S, Batisse-Lignier M, Tabbal H, Tauveron I, Lefrançois-Martinez AM, Pointud JC, Gomez-Sanchez CE, Vainio S, Shan J, Sacco S, Schedl A, Stratakis CA, Martinez A, Val P
- Genetic, pathophysiological, and clinical aspects of nephrocalcinosis.
American journal of physiology. Renal physiology. 2016 Dec 1;311(6):F1243-F1252
Authors: Oliveira B, Kleta R, Bockenhauer D, Walsh SB
- Mass spectrometric analysis of the HLA class I peptidome of melanoma cell lines as a promising tool for the identification of putative tumor-associated HLA epitopes.
Cancer immunology, immunotherapy : CII. 2016 Nov;65(11):1377-1393
Authors: Gloger A, Ritz D, Fugmann T, Neri D
- Functionomics of NCC mutations in Gitelman syndrome using a novel mammalian cell-based activity assay.
American journal of physiology. Renal physiology. 2016 Dec 1;311(6):F1159-F1167
Authors: Valdez-Flores MA, Vargas-Poussou R, Verkaart S, Tutakhel OA, Valdez-Ortiz A, Blanchard A, Treard C, Hoenderop JG, Bindels RJ, Jeleń S
- Impairment of Wnt11 function leads to kidney tubular abnormalities and secondary glomerular cystogenesis.
BMC developmental biology. 2016 Aug 31;16(1):30
Authors: Nagy II, Xu Q, Naillat F, Ali N, Miinalainen I, Samoylenko A, Vainio SJ
- Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
The Journal of biological chemistry. 2016 Sep 23;291(39):20563-73
Authors: Forny P, Schumann A, Mustedanagic M, Mathis D, Wulf MA, Nägele N, Langhans CD, Zhakupova A, Heeren J, Scheja L, Fingerhut R, Peters HL, Hornemann T, Thony B, Kölker S, Burda P, Froese DS, Devuyst O, Baumgartner MR
- Renal apnoea: extreme disturbance of homoeostasis in a child with Bartter syndrome type IV.
Lancet (London, England). 2016 Aug 6;388(10044):631-2
Authors: Plumb LA, Van't Hoff W, Kleta R, Reid C, Ashton E, Samuels M, Bockenhauer D
- Familial C3 glomerulonephritis caused by a novel CFHR5-CFHR2 fusion gene.
Molecular immunology. 2016 Sep;77:89-96
Authors: Xiao X, Ghossein C, Tortajada A, Zhang Y, Meyer N, Jones M, Borsa NG, Nester CM, Thomas CP, de Córdoba SR, Smith RJ
- Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL.
Nature cell biology. 2016 Aug;18(8):839-850
Authors: De Leo MG, Staiano L, Vicinanza M, Luciani A, Carissimo A, Mutarelli M, Di Campli A, Polishchuk E, Di Tullio G, Morra V, Levtchenko E, Oltrabella F, Starborg T, Santoro M, Di Bernardo D, Devuyst O, Lowe M, Medina DL, Ballabio A, De Matteis MA
- The expanding phenotypic spectra of kidney diseases: insights from genetic studies.
Nature reviews. Nephrology. 2016 Aug;12(8):472-83
Authors: Stokman MF, Renkema KY, Giles RH, Schaefer F, Knoers NV, van Eerde AM
- Identification of SLC41A3 as a novel player in magnesium homeostasis.
Scientific reports. 2016 Jun 28;6:28565
Authors: de Baaij JH, Arjona FJ, van den Brand M, Lavrijsen M, Lameris AL, Bindels RJ, Hoenderop JG
- Rituximab for Severe Membranous Nephropathy: A 6-Month Trial with Extended Follow-Up.
Journal of the American Society of Nephrology : JASN. 2017 Jan;28(1):348-358
Authors: Dahan K, Debiec H, Plaisier E, Cachanado M, Rousseau A, Wakselman L, Michel PA, Mihout F, Dussol B, Matignon M, Mousson C, Simon T, Ronco P, GEMRITUX Study Group.
- Observations of a large Dent disease cohort.
Kidney international. 2016 Aug;90(2):430-439
Authors: Blanchard A, Curis E, Guyon-Roger T, Kahila D, Treard C, Baudouin V, Bérard E, Champion G, Cochat P, Dubourg J, de la Faille R, Devuyst O, Deschenes G, Fischbach M, Harambat J, Houillier P, Karras A, Knebelmann B, Lavocat MP, Loirat C, Merieau E, Niaudet P, Nobili F, Novo R, Salomon R, Ulinski T, Jeunemaître X, Vargas-Poussou R
- International Charter of principles for sharing bio-specimens and data.
European journal of human genetics : EJHG. 2015 Jun;23(6):721-8
Authors: Mascalzoni D, Dove ES, Rubinstein Y, Dawkins HJ, Kole A, McCormack P, Woods S, Riess O, Schaefer F, Lochmüller H, Knoppers BM, Hansson M
- Wnt Signaling in Renal Cell Carcinoma.
Cancers. 2016 Jun 17;8(6)
Authors: Xu Q, Krause M, Samoylenko A, Vainio S
- Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.
Molecular genetics & genomic medicine. 2016 Sep;4(5):521-6
Authors: Abdelhadi O, Iancu D, Tekman M, Stanescu H, Bockenhauer D, Kleta R
- P2X6 Knockout Mice Exhibit Normal Electrolyte Homeostasis.
PloS one. 2016;11(6):e0156803
Authors: de Baaij JH, Kompatscher A, Viering DH, Bos C, Bindels RJ, Hoenderop JG
- EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10.
Rare diseases (Austin, Tex.). 2016;4(1):e1195043
Authors: Abdelhadi O, Iancu D, Stanescu H, Kleta R, Bockenhauer D
- Genetic causes of hypomagnesemia, a clinical overview.
Pediatric nephrology (Berlin, Germany). 2017 Jul;32(7):1123-1135
Authors: Viering DHHM, de Baaij JHF, Walsh SB, Kleta R, Bockenhauer D
- Non-Transgenic Mouse Models of Kidney Disease.
Nephron. 2016;133(1):53-61
Authors: Rabe M, Schaefer F
- Development and characterization of a pseudo multiple reaction monitoring method for the quantification of human uromodulin in urine.
Bioanalysis. 2016 Jun;8(12):1279-96
Authors: Hammond TG, Moes S, Youhanna S, Jennings P, Devuyst O, Odermatt A, Jenö P
- High-sensitivity HLA class I peptidome analysis enables a precise definition of peptide motifs and the identification of peptides from cell lines and patients' sera.
Proteomics. 2016 May;16(10):1570-80
Authors: Ritz D, Gloger A, Weide B, Garbe C, Neri D, Fugmann T
- Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome.
Immunobiology. 2016 Oct;221(10):1124-30
Authors: Gleeson PJ, Wilson V, Cox TE, Sharma SD, Smith-Jackson K, Strain L, Lappin D, McHale T, Kavanagh D, Goodship TH
- Phospholipase A2 Receptor-Related Membranous Nephropathy and Mannan-Binding Lectin Deficiency.
Journal of the American Society of Nephrology : JASN. 2016 Dec;27(12):3539-3544
Authors: Bally S, Debiec H, Ponard D, Dijoud F, Rendu J, Fauré J, Ronco P, Dumestre-Perard C
- Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy.
Cell reports. 2016 May 17;15(7):1423-1429
Authors: Assmann N, Dettmer K, Simbuerger JMB, Broeker C, Nuernberger N, Renner K, Courtneidge H, Klootwijk ED, Duerkop A, Hall A, Kleta R, Oefner PJ, Reichold M, Reinders J
- Inulin significantly improves serum magnesium levels in proton pump inhibitor-induced hypomagnesaemia.
Alimentary pharmacology & therapeutics. 2016 Jun;43(11):1178-85
Authors: Hess MW, de Baaij JH, Broekman M, Bisseling TM, Haarhuis B, Tan A, Te Morsche R, Hoenderop JG, Bindels RJ, Drenth JP
- CD146(+) cells are essential for kidney vasculature development.
Kidney international. 2016 Aug;90(2):311-324
Authors: Halt KJ, Pärssinen HE, Junttila SM, Saarela U, Sims-Lucas S, Koivunen P, Myllyharju J, Quaggin S, Skovorodkin IN, Vainio SJ
- Tolvaptan is successful in treating inappropriate antidiuretic hormone secretion in infants.
Acta paediatrica (Oslo, Norway : 1992). 2016 Jul;105(7):e334-7
Authors: Marx-Berger D, Milford DV, Bandhakavi M, Van't Hoff W, Kleta R, Dattani M, Bockenhauer D
- Tubular proteinuria in patients with HNF1α mutations: HNF1α drives endocytosis in the proximal tubule.
Kidney international. 2016 May;89(5):1075-1089
Authors: Terryn S, Tanaka K, Lengelé JP, Olinger E, Dubois-Laforgue D, Garbay S, Kozyraki R, Van Der Smissen P, Christensen EI, Courtoy PJ, Bellanné-Chantelot C, Timsit J, Pontoglio M, Devuyst O
- Glomerulopathy in patients with distal duplication of chromosome 6p.
BMC nephrology. 2016 Mar 21;17:32
Authors: Jankauskienė A, Koczkowska M, Bjerre A, Bernaciak J, Schaefer F, Lipska-Ziętkiewicz BS
- Podocyte Purinergic P2X4 Channels Are Mechanotransducers That Mediate Cytoskeletal Disorganization.
Journal of the American Society of Nephrology : JASN. 2016 Mar;27(3):848-62
Authors: Forst AL, Olteanu VS, Mollet G, Wlodkowski T, Schaefer F, Dietrich A, Reiser J, Gudermann T, Mederos y Schnitzler M, Storch U
- Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
PLoS genetics. 2016 Mar;12(3):e1005894
Authors: Grampa V, Delous M, Zaidan M, Odye G, Thomas S, Elkhartoufi N, Filhol E, Niel O, Silbermann F, Lebreton C, Collardeau-Frachon S, Rouvet I, Alessandri JL, Devisme L, Dieux-Coeslier A, Cordier MP, Capri Y, Khung-Savatovsky S, Sigaudy S, Salomon R, Antignac C, Gubler MC, Benmerah A, Terzi F, Attié-Bitach T, Jeanpierre C, Saunier S
- The Uromodulin Gene Locus Shows Evidence of Pathogen Adaptation through Human Evolution.
Journal of the American Society of Nephrology : JASN. 2016 Oct;27(10):2983-2996
Authors: Ghirotto S, Tassi F, Barbujani G, Pattini L, Hayward C, Vollenweider P, Bochud M, Rampoldi L, Devuyst O
- Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.
The Journal of clinical endocrinology and metabolism. 2016 May;101(5):2185-95
Authors: Vargas-Poussou R, Mansour-Hendili L, Baron S, Bertocchio JP, Travers C, Simian C, Treard C, Baudouin V, Beltran S, Broux F, Camard O, Cloarec S, Cormier C, Debussche X, Dubosclard E, Eid C, Haymann JP, Kiando SR, Kuhn JM, Lefort G, Linglart A, Lucas-Pouliquen B, Macher MA, Maruani G, Ouzounian S, Polak M, Requeda E, Robier D, Silve C, Souberbielle JC, Tack I, Vezzosi D, Jeunemaitre X, Houillier P
- Urine of Preterm Neonates as a Novel Source of Kidney Progenitor Cells.
Journal of the American Society of Nephrology : JASN. 2016 Sep;27(9):2762-70
Authors: Arcolino FO, Zia S, Held K, Papadimitriou E, Theunis K, Bussolati B, Raaijmakers A, Allegaert K, Voet T, Deprest J, Vriens J, Toelen J, van den Heuvel L, Levtchenko E
- Insights into the Effects of Complement Factor H on the Assembly and Decay of the Alternative Pathway C3 Proconvertase and C3 Convertase.
The Journal of biological chemistry. 2016 Apr 8;291(15):8214-30
Authors: Bettoni S, Bresin E, Remuzzi G, Noris M, Donadelli R
- Loss of diacylglycerol kinase epsilon in mice causes endothelial distress and impairs glomerular Cox-2 and PGE2 production.
American journal of physiology. Renal physiology. 2016 May 1;310(9):F895-908
Authors: Zhu J, Chaki M, Lu D, Ren C, Wang SS, Rauhauser A, Li B, Zimmerman S, Jun B, Du Y, Vadnagara K, Wang H, Elhadi S, Quigg RJ, Topham MK, Mohan C, Ozaltin F, Zhou XJ, Marciano DK, Bazan NG, Attanasio M
- Complement gene variants determine the risk of immunoglobulin-associated MPGN and C3 glomerulopathy and predict long-term renal outcome.
Molecular immunology. 2016 Mar;71:131-142
Authors: Iatropoulos P, Noris M, Mele C, Piras R, Valoti E, Bresin E, Curreri M, Mondo E, Zito A, Gamba S, Bettoni S, Murer L, Fremeaux-Bacchi V, Vivarelli M, Emma F, Daina E, Remuzzi G
- Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.
Nature genetics. 2016 Apr;48(4):457-65
Authors: Braun DA, Sadowski CE, Kohl S, Lovric S, Astrinidis SA, Pabst WL, Gee HY, Ashraf S, Lawson JA, Shril S, Airik M, Tan W, Schapiro D, Rao J, Choi WI, Hermle T, Kemper MJ, Pohl M, Ozaltin F, Konrad M, Bogdanovic R, Büscher R, Helmchen U, Serdaroglu E, Lifton RP, Antonin W, Hildebrandt F
- Improving the informed consent process in international collaborative rare disease research: effective consent for effective research.
European journal of human genetics : EJHG. 2016 Aug;24(9):1248-54
Authors: Gainotti S, Turner C, Woods S, Kole A, McCormack P, Lochmüller H, Riess O, Straub V, Posada M, Taruscio D, Mascalzoni D
- Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2017 Feb 1;32(2):325-332
Authors: Sekula P, Li Y, Stanescu HC, Wuttke M, Ekici AB, Bockenhauer D, Walz G, Powis SH, Kielstein JT, Brenchley P, GCKD Investigators., Eckardt KU, Kronenberg F, Kleta R, Köttgen A
- Kidney disease in children: latest advances and remaining challenges.
Nature reviews. Nephrology. 2016 Mar;12(3):182-91
Authors: Bertram JF, Goldstein SL, Pape L, Schaefer F, Shroff RC, Warady BA
- Wnt5a Deficiency Leads to Anomalies in Ureteric Tree Development, Tubular Epithelial Cell Organization and Basement Membrane Integrity Pointing to a Role in Kidney Collecting Duct Patterning.
PloS one. 2016;11(1):e0147171
Authors: Pietilä I, Prunskaite-Hyyryläinen R, Kaisto S, Tika E, van Eerde AM, Salo AM, Garma L, Miinalainen I, Feitz WF, Bongers EM, Juffer A, Knoers NV, Renkema KY, Myllyharju J, Vainio SJ
- The role of urinary peptidomics in kidney disease research.
Kidney international. 2016 Mar;89(3):539-45
Authors: Klein J, Bascands JL, Mischak H, Schanstra JP
- Long-term outcomes of persistent disease and relapse in primary membranous nephropathy.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2016 Dec;31(12):2108-2114
Authors: Kanigicherla DA, Short CD, Roberts SA, Hamilton P, Nikam M, Harris S, Brenchley PE, Venning MC
- The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies.
Journal of thrombosis and haemostasis : JTH. 2016 Jan;14(1):175-85
Authors: Phillips EH, Westwood JP, Brocklebank V, Wong EK, Tellez JO, Marchbank KJ, McGuckin S, Gale DP, Connolly J, Goodship TH, Kavanagh D, Scully MA
- Urinary β-galactosidase stimulates Ca2+ transport by stabilizing TRPV5 at the plasma membrane.
Glycobiology. 2016 May;26(5):472-81
Authors: Leunissen EH, Blanchard MG, Sheedfar F, Lavrijsen M, van der Wijst J, Bindels RJ, Hoenderop JG
- Hypomagnesemia in Type 2 Diabetes: A Vicious Circle?
Diabetes. 2016 Jan;65(1):3-13
Authors: Gommers LM, Hoenderop JG, Bindels RJ, de Baaij JH
- Wnt4 coordinates directional cell migration and extension of the Müllerian duct essential for ontogenesis of the female reproductive tract.
Human molecular genetics. 2016 Mar 15;25(6):1059-73
Authors: Prunskaite-Hyyryläinen R, Skovorodkin I, Xu Q, Miinalainen I, Shan J, Vainio SJ
- Associations of Urinary Uromodulin with Clinical Characteristics and Markers of Tubular Function in the General Population.
Clinical journal of the American Society of Nephrology : CJASN. 2016 Jan 7;11(1):70-80
Authors: Pruijm M, Ponte B, Ackermann D, Paccaud F, Guessous I, Ehret G, Pechère-Bertschi A, Vogt B, Mohaupt MG, Martin PY, Youhanna SC, Nägele N, Vollenweider P, Waeber G, Burnier M, Devuyst O, Bochud M
- Clinical, Genetic, and Urinary Factors Associated with Uromodulin Excretion.
Clinical journal of the American Society of Nephrology : CJASN. 2016 Jan 7;11(1):62-9
Authors: Troyanov S, Delmas-Frenette C, Bollée G, Youhanna S, Bruat V, Awadalla P, Devuyst O, Madore F
- Human proximal tubule cells form functional microtissues.
Pflugers Archiv : European journal of physiology. 2016 Apr;468(4):739-50
Authors: Prange JA, Bieri M, Segerer S, Burger C, Kaech A, Moritz W, Devuyst O
- The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin.
eLife. 2015 Dec 17;4:e08887
Authors: Brunati M, Perucca S, Han L, Cattaneo A, Consolato F, Andolfo A, Schaeffer C, Olinger E, Peng J, Santambrogio S, Perrier R, Li S, Bokhove M, Bachi A, Hummler E, Devuyst O, Wu Q, Jovine L, Rampoldi L
- Immune Response against Autoantigen PLA2R Is not Gambling: Implications for Pathophysiology, Prognosis, and Therapy.
Journal of the American Society of Nephrology : JASN. 2016 May;27(5):1275-7
Authors: Debiec H, Ronco P
- Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.
Diabetes. 2016 Mar;65(3):803-17
Authors: Teumer A, Tin A, Sorice R, Gorski M, Yeo NC, Chu AY, Li M, Li Y, Mijatovic V, Ko YA, Taliun D, Luciani A, Chen MH, Yang Q, Foster MC, Olden M, Hiraki LT, Tayo BO, Fuchsberger C, Dieffenbach AK, Shuldiner AR, Smith AV, Zappa AM, Lupo A, Kollerits B, Ponte B, Stengel B, Krämer BK, Paulweber B, Mitchell BD, Hayward C, Helmer C, Meisinger C, Gieger C, Shaffer CM, Müller C, Langenberg C, Ackermann D, Siscovick D, DCCT/EDIC., Boerwinkle E, Kronenberg F, Ehret GB, Homuth G, Waeber G, Navis G, Gambaro G, Malerba G, Eiriksdottir G, Li G, Wichmann HE, Grallert H, Wallaschofski H, Völzke H, Brenner H, Kramer H, Mateo Leach I, Rudan I, Hillege HL, Beckmann JS, Lambert JC, Luan J, Zhao JH, Chalmers J, Coresh J, Denny JC, Butterbach K, Launer LJ, Ferrucci L, Kedenko L, Haun M, Metzger M, Woodward M, Hoffman MJ, Nauck M, Waldenberger M, Pruijm M, Bochud M, Rheinberger M, Verweij N, Wareham NJ, Endlich N, Soranzo N, Polasek O, van der Harst P, Pramstaller PP, Vollenweider P, Wild PS, Gansevoort RT, Rettig R, Biffar R, Carroll RJ, Katz R, Loos RJ, Hwang SJ, Coassin S, Bergmann S, Rosas SE, Stracke S, Harris TB, Corre T, Zeller T, Illig T, Aspelund T, Tanaka T, Lendeckel U, Völker U, Gudnason V, Chouraki V, Koenig W, Kutalik Z, O'Connell JR, Parsa A, Heid IM, Paterson AD, de Boer IH, Devuyst O, Lazar J, Endlich K, Susztak K, Tremblay J, Hamet P, Jacob HJ, Böger CA, Fox CS, Pattaro C, Köttgen A
- Tissue transcriptome-driven identification of epidermal growth factor as a chronic kidney disease biomarker.
Science translational medicine. 2015 Dec 2;7(316):316ra193
Authors: Ju W, Nair V, Smith S, Zhu L, Shedden K, Song PXK, Mariani LH, Eichinger FH, Berthier CC, Randolph A, Lai JY, Zhou Y, Hawkins JJ, Bitzer M, Sampson MG, Thier M, Solier C, Duran-Pacheco GC, Duchateau-Nguyen G, Essioux L, Schott B, Formentini I, Magnone MC, Bobadilla M, Cohen CD, Bagnasco SM, Barisoni L, Lv J, Zhang H, Wang HY, Brosius FC, Gadegbeku CA, Kretzler M, ERCB, C-PROBE, NEPTUNE, and PKU-IgAN Consortium.
- Thrombotic microangiopathy without renal involvement: two novel mutations in complement-regulator genes.
Journal of thrombosis and haemostasis : JTH. 2016 Feb;14(2):340-5
Authors: Peyvandi F, Rossio R, Ferrari B, Lotta LA, Pontiggia S, Ghiringhelli Borsa N, Pizzuti M, Donadelli R, Piras R, Cugno M, Noris M
- Impaired Lysosomal Function Underlies Monoclonal Light Chain-Associated Renal Fanconi Syndrome.
Journal of the American Society of Nephrology : JASN. 2016 Jul;27(7):2049-61
Authors: Luciani A, Sirac C, Terryn S, Javaugue V, Prange JA, Bender S, Bonaud A, Cogné M, Aucouturier P, Ronco P, Bridoux F, Devuyst O
- Liver transplantation for aHUS: still needed in the eculizumab era?
Pediatric nephrology (Berlin, Germany). 2016 May;31(5):759-68
Authors: Coppo R, Bonaudo R, Peruzzi RL, Amore A, Brunati A, Romagnoli R, Salizzoni M, Galbusera M, Gotti E, Daina E, Noris M, Remuzzi G
- Alternative splice variant of the thiazide-sensitive NaCl cotransporter: a novel player in renal salt handling.
American journal of physiology. Renal physiology. 2016 Feb 1;310(3):F204-16
Authors: Tutakhel OA, Jeleń S, Valdez-Flores M, Dimke H, Piersma SR, Jimenez CR, Deinum J, Lenders JW, Hoenderop JG, Bindels RJ
- Membranous nephropathy: A fairy tale for immunopathologists, nephrologists and patients.
Molecular immunology. 2015 Nov;68(1):57-62
Authors: Ronco P, Debiec H
- Uromodulin, kidney function, cardiovascular disease, and mortality.
Kidney international. 2015 Nov;88(5):944-6
Authors: Devuyst O, Bochud M
- High-resolution analysis of the murine MHC class II immunopeptidome.
European journal of immunology. 2016 Feb;46(2):319-28
Authors: Sofron A, Ritz D, Neri D, Fugmann T
- A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome.
Journal of the American Society of Nephrology : JASN. 2016 Jun;27(6):1617-24
Authors: Challis RC, Araujo GS, Wong EK, Anderson HE, Awan A, Dorman AM, Waldron M, Wilson V, Brocklebank V, Strain L, Morgan BP, Harris CL, Marchbank KJ, Goodship TH, Kavanagh D
- Genome-wide association studies in pediatric chronic kidney disease.
Pediatric nephrology (Berlin, Germany). 2016 Aug;31(8):1241-52
Authors: Gupta J, Kanetsky PA, Wuttke M, Köttgen A, Schaefer F, Wong CS
- Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.
Kidney international. 2016 Feb;89(2):476-86
Authors: Nicolaou N, Pulit SL, Nijman IJ, Monroe GR, Feitz WF, Schreuder MF, van Eerde AM, de Jong TP, Giltay JC, van der Zwaag B, Havenith MR, Zwakenberg S, van der Zanden LF, Poelmans G, Cornelissen EA, Lilien MR, Franke B, Roeleveld N, van Rooij IA, Cuppen E, Bongers EM, Giles RH, Knoers NV, Renkema KY
- Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
Kidney international. 2016 Feb;89(2):468-475
Authors: Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, Airik R, Shril S, Allen SJ, Stein D, Al Kindy A, Beck BB, Cengiz N, Moorani KN, Ozaltin F, Hashmi S, Sayer JA, Bockenhauer D, Soliman NA, Otto EA, Lifton RP, Hildebrandt F
- Exosomes as renal inductive signals in health and disease, and their application as diagnostic markers and therapeutic agents.
Frontiers in cell and developmental biology. 2015;3:65
Authors: Krause M, Samoylenko A, Vainio SJ
- A Familial C3GN Secondary to Defective C3 Regulation by Complement Receptor 1 and Complement Factor H.
Journal of the American Society of Nephrology : JASN. 2016 Jun;27(6):1665-77
Authors: Chauvet S, Roumenina LT, Bruneau S, Marinozzi MC, Rybkine T, Schramm EC, Java A, Atkinson JP, Aldigier JC, Bridoux F, Touchard G, Fremeaux-Bacchi V
- An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document.
Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia. 2015;35(5):421-47
Authors: Campistol JM, Arias M, Ariceta G, Blasco M, Espinosa L, Espinosa M, Grinyó JM, Macía M, Mendizábal S, Praga M, Román E, Torra R, Valdés F, Vilalta R, Rodríguez de Córdoba S
- Complement Factor H-Related 5-Hybrid Proteins Anchor Properdin and Activate Complement at Self-Surfaces.
Journal of the American Society of Nephrology : JASN. 2016 May;27(5):1413-25
Authors: Chen Q, Manzke M, Hartmann A, Büttner M, Amann K, Pauly D, Wiesener M, Skerka C, Zipfel PF
- The Na+/Ca2+ Exchanger 1 (NCX1) Variant 3 as the Major Extrusion System in Renal Distal Tubular Transcellular Ca2+-Transport.
Nephron. 2015;131(2):145-52
Authors: van der Hagen EA, van Loon EP, Verkaart S, Latta F, Bindels RJ, Hoenderop JG
- Genetic loci associated with renal function measures and chronic kidney disease in children: the Pediatric Investigation for Genetic Factors Linked with Renal Progression Consortium.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2016 Feb;31(2):262-9
Authors: Wuttke M, Wong CS, Wühl E, Epting D, Luo L, Hoppmann A, Doyon A, Li Y, CKDGen Consortium., Sözeri B, Thurn D, Helmstädter M, Huber TB, Blydt-Hansen TD, Kramer-Zucker A, Mehls O, Melk A, Querfeld U, Furth SL, Warady BA, Schaefer F, Köttgen A
- Dietary Inulin Fibers Prevent Proton-Pump Inhibitor (PPI)-Induced Hypocalcemia in Mice.
PloS one. 2015;10(9):e0138881
Authors: Hess MW, de Baaij JH, Gommers LM, Hoenderop JG, Bindels RJ
- Treatment of Congenital Thrombotic Thrombocytopenic Purpura With Eculizumab.
American journal of kidney diseases : the official journal of the National Kidney Foundation. 2015 Dec;66(6):1067-70
Authors: Pecoraro C, Ferretti AV, Rurali E, Galbusera M, Noris M, Remuzzi G
- Molecular Basis of Factor H R1210C Association with Ocular and Renal Diseases.
Journal of the American Society of Nephrology : JASN. 2016 May;27(5):1305-11
Authors: Recalde S, Tortajada A, Subias M, Anter J, Blasco M, Maranta R, Coco R, Pinto S, Noris M, García-Layana A, Rodríguez de Córdoba S
- Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review.
American journal of nephrology. 2015;42(1):85-90
Authors: van der Made CI, Hoorn EJ, de la Faille R, Karaaslan H, Knoers NV, Hoenderop JG, Vargas Poussou R, de Baaij JH
- Genetic, environmental, and epigenetic factors involved in CAKUT.
Nature reviews. Nephrology. 2015 Dec;11(12):720-31
Authors: Nicolaou N, Renkema KY, Bongers EM, Giles RH, Knoers NV
- Structural insights on complement activation.
The FEBS journal. 2015 Oct;282(20):3883-91
Authors: Alcorlo M, López-Perrote A, Delgado S, Yébenes H, Subías M, Rodríguez-Gallego C, Rodríguez de Córdoba S, Llorca O
- Podocyte Purinergic P2X4 Channels Are Mechanotransducers That Mediate Cytoskeletal Disorganization.
Journal of the American Society of Nephrology : JASN. 2016 Mar;27(3):848-62
Authors: Forst AL, Olteanu VS, Mollet G, Wlodkowski T, Schaefer F, Dietrich A, Reiser J, Gudermann T, Mederos y Schnitzler M, Storch U
- The Rho-GTPase binding protein IQGAP2 is required for the glomerular filtration barrier.
Kidney international. 2015 Nov;88(5):1047-56
Authors: Sugano Y, Lindenmeyer MT, Auberger I, Ziegler U, Segerer S, Cohen CD, Neuhauss SC, Loffing J
- HNF1B-associated clinical phenotypes: the kidney and beyond.
Pediatric nephrology (Berlin, Germany). 2016 May;31(5):707-14
Authors: Bockenhauer D, Jaureguiberry G
- Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome.
Molecular immunology. 2015 Oct;67(2 Pt B):276-86
Authors: Bernabéu-Herrero ME, Jiménez-Alcázar M, Anter J, Pinto S, Sánchez Chinchilla D, Garrido S, López-Trascasa M, Rodríguez de Córdoba S, Sánchez-Corral P
- Regulation of Mg2+ Reabsorption and Transient Receptor Potential Melastatin Type 6 Activity by cAMP Signaling.
Journal of the American Society of Nephrology : JASN. 2016 Mar;27(3):804-13
Authors: Blanchard MG, Kittikulsuth W, Nair AV, de Baaij JH, Latta F, Genzen JR, Kohan DE, Bindels RJ, Hoenderop JG
- Design and feasibility of "PREMATurity as predictor of children's Cardiovascular-renal Health" (PREMATCH): A pilot study.
Blood pressure. 2015;24(5):275-83
Authors: Raaijmakers A, Petit T, Gu Y, Zhang Z, Wei F, Cools B, Jacobs L, Thijs L, Thewissen L, Levtchenko E, Staessen JA, Allegaert K
- Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.
Nature reviews. Nephrology. 2015 Oct;11(10):576-88
Authors: Bockenhauer D, Bichet DG
- Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Human mutation. 2015 Aug;36(8):743-52
Authors: Mansour-Hendili L, Blanchard A, Le Pottier N, Roncelin I, Lourdel S, Treard C, González W, Vergara-Jaque A, Morin G, Colin E, Holder-Espinasse M, Bacchetta J, Baudouin V, Benoit S, Bérard E, Bourdat-Michel G, Bouchireb K, Burtey S, Cailliez M, Cardon G, Cartery C, Champion G, Chauveau D, Cochat P, Dahan K, De la Faille R, Debray FG, Dehoux L, Deschenes G, Desport E, Devuyst O, Dieguez S, Emma F, Fischbach M, Fouque D, Fourcade J, François H, Gilbert-Dussardier B, Hannedouche T, Houillier P, Izzedine H, Janner M, Karras A, Knebelmann B, Lavocat MP, Lemoine S, Leroy V, Loirat C, Macher MA, Martin-Coignard D, Morin D, Niaudet P, Nivet H, Nobili F, Novo R, Faivre L, Rigothier C, Roussey-Kesler G, Salomon R, Schleich A, Sellier-Leclerc AL, Soulami K, Tiple A, Ulinski T, Vanhille P, Van Regemorter N, Jeunemaître X, Vargas-Poussou R
- Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
Journal of the American Society of Nephrology : JASN. 2016 Feb;27(2):604-14
Authors: Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M
- Complement System Part I - Molecular Mechanisms of Activation and Regulation.
Frontiers in immunology. 2015;6:262
Authors: Merle NS, Church SE, Fremeaux-Bacchi V, Roumenina LT
- Non-invasive sources of cells with primary cilia from pediatric and adult patients.
Cilia. 2015;4:8
Authors: Ajzenberg H, Slaats GG, Stokman MF, Arts HH, Logister I, Kroes HY, Renkema KY, van Haelst MM, Terhal PA, van Rooij IA, Keijzer-Veen MG, Knoers NV, Lilien MR, Jewett MA, Giles RH
- Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
Human genetics. 2015 Aug;134(8):905-16
Authors: Hwang DY, Kohl S, Fan X, Vivante A, Chan S, Dworschak GC, Schulz J, van Eerde AM, Hilger AC, Gee HY, Pennimpede T, Herrmann BG, van de Hoek G, Renkema KY, Schell C, Huber TB, Reutter HM, Soliman NA, Stajic N, Bogdanovic R, Kehinde EO, Lifton RP, Tasic V, Lu W, Hildebrandt F
- Glomerular Diseases Dependent on Complement Activation, Including Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis, and C3 Glomerulopathy: Core Curriculum 2015.
American journal of kidney diseases : the official journal of the National Kidney Foundation. 2015 Aug;66(2):359-75
Authors: Noris M, Remuzzi G
- Complement System Part II: Role in Immunity.
Frontiers in immunology. 2015;6:257
Authors: Merle NS, Noe R, Halbwachs-Mecarelli L, Fremeaux-Bacchi V, Roumenina LT
- Alternatively spliced isoforms of WT1 control podocyte-specific gene expression.
Kidney international. 2015 Aug;88(2):321-31
Authors: Lefebvre J, Clarkson M, Massa F, Bradford ST, Charlet A, Buske F, Lacas-Gervais S, Schulz H, Gimpel C, Hata Y, Schaefer F, Schedl A
- Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Nature genetics. 2015 Jul;47(7):717-726
Authors: Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, Bento C, Bignell P, Blair E, Buckle VJ, Bull K, Cais O, Cario H, Chapel H, Copley RR, Cornall R, Craft J, Dahan K, Davenport EE, Dendrou C, Devuyst O, Fenwick AL, Flint J, Fugger L, Gilbert RD, Goriely A, Green A, Greger IH, Grocock R, Gruszczyk AV, Hastings R, Hatton E, Higgs D, Hill A, Holmes C, Howard M, Hughes L, Humburg P, Johnson D, Karpe F, Kingsbury Z, Kini U, Knight JC, Krohn J, Lamble S, Langman C, Lonie L, Luck J, McCarthy D, McGowan SJ, McMullin MF, Miller KA, Murray L, Németh AH, Nesbit MA, Nutt D, Ormondroyd E, Oturai AB, Pagnamenta A, Patel SY, Percy M, Petousi N, Piazza P, Piret SE, Polanco-Echeverry G, Popitsch N, Powrie F, Pugh C, Quek L, Robbins PA, Robson K, Russo A, Sahgal N, van Schouwenburg PA, Schuh A, Silverman E, Simmons A, Sørensen PS, Sweeney E, Taylor J, Thakker RV, Tomlinson I, Trebes A, Twigg SR, Uhlig HH, Vyas P, Vyse T, Wall SA, Watkins H, Whyte MP, Witty L, Wright B, Yau C, Buck D, Humphray S, Ratcliffe PJ, Bell JI, Wilkie AO, Bentley D, Donnelly P, McVean G
- Pathophysiological advances in membranous nephropathy: time for a shift in patient's care.
Lancet (London, England). 2015 May 16;385(9981):1983-92
Authors: Ronco P, Debiec H
- Autosomal dominant polycystic kidney disease: the changing face of clinical management.
Lancet (London, England). 2015 May 16;385(9981):1993-2002
Authors: Ong AC, Devuyst O, Knebelmann B, Walz G, ERA-EDTA Working Group for Inherited Kidney Diseases.
- Factor H-related proteins determine complement-activating surfaces.
Trends in immunology. 2015 Jun;36(6):374-84
Authors: Józsi M, Tortajada A, Uzonyi B, Goicoechea de Jorge E, Rodríguez de Córdoba S
- ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.
Journal of the American Society of Nephrology : JASN. 2016 Jan;27(1):63-8
Authors: Korkmaz E, Lipska-Ziętkiewicz BS, Boyer O, Gribouval O, Fourrage C, Tabatabaei M, Schnaidt S, Gucer S, Kaymaz F, Arici M, Dinckan A, Mir S, Bayazit AK, Emre S, Balat A, Rees L, Shroff R, Bergmann C, Mourani C, Antignac C, Ozaltin F, Schaefer F, PodoNet Consortium.
- Complement genetics and susceptibility to inflammatory disease. Lessons from genotype-phenotype correlations.
Immunobiology. 2016 Jun;221(6):709-14
Authors: de Córdoba SR
- Chloride transporters and receptor-mediated endocytosis in the renal proximal tubule.
The Journal of physiology. 2015 Sep 15;593(18):4151-64
Authors: Devuyst O, Luciani A
- Diabetes-Induced Congenital Anomalies of the Kidney and Urinary Tract (CAKUT): Nurture and Nature at Work?
American journal of kidney diseases : the official journal of the National Kidney Foundation. 2015 May;65(5):644-6
Authors: Renkema KY, Verhaar MC, Knoers NV
- The role of complement in C3 glomerulopathy.
Molecular immunology. 2015 Sep;67(1):21-30
Authors: Zipfel PF, Skerka C, Chen Q, Wiech T, Goodship T, Johnson S, Fremeaux-Bacchi V, Nester C, de Córdoba SR, Noris M, Pickering M, Smith R
- Anti-factor H autoantibodies in C3 glomerulopathies and in atypical hemolytic uremic syndrome: one target, two diseases.
Journal of immunology (Baltimore, Md. : 1950). 2015 Jun 1;194(11):5129-38
Authors: Blanc C, Togarsimalemath SK, Chauvet S, Le Quintrec M, Moulin B, Buchler M, Jokiranta TS, Roumenina LT, Fremeaux-Bacchi V, Dragon-Durey MA
- Neonatal creatinemia trends as biomarker of subsequent cognitive outcome in extremely low birth weight neonates.
Early human development. 2015 Jun;91(6):367-72
Authors: Raaijmakers A, Ortibus E, van Tienoven TP, Vanhole C, Levtchenko E, Allegaert K
- The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome.
Molecular immunology. 2015 Aug;66(2):263-73
Authors: Martínez-Barricarte R, Heurich M, López-Perrote A, Tortajada A, Pinto S, López-Trascasa M, Sánchez-Corral P, Morgan BP, Llorca O, Harris CL, Rodríguez de Córdoba S
- Signaling during Kidney Development.
Cells. 2015 Apr 10;4(2):112-32
Authors: Krause M, Rak-Raszewska A, Pietilä I, Quaggin SE, Vainio S
- Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.
Clinical journal of the American Society of Nephrology : CJASN. 2015 Jun 5;10(6):1011-9
Authors: Mele C, Lemaire M, Iatropoulos P, Piras R, Bresin E, Bettoni S, Bick D, Helbling D, Veith R, Valoti E, Donadelli R, Murer L, Neunhäuserer M, Breno M, Frémeaux-Bacchi V, Lifton R, Remuzzi G, Noris M
- Atypical aHUS: State of the art.
Molecular immunology. 2015 Sep;67(1):31-42
Authors: Nester CM, Barbour T, de Cordoba SR, Dragon-Durey MA, Fremeaux-Bacchi V, Goodship TH, Kavanagh D, Noris M, Pickering M, Sanchez-Corral P, Skerka C, Zipfel P, Smith RJ
- Phospholipase A2 receptor and sarcoidosis-associated membranous nephropathy.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2015 Jun;30(6):1047-50
Authors: Stehlé T, Audard V, Ronco P, Debiec H
- Flavaglines Stimulate Transient Receptor Potential Melastatin Type 6 (TRPM6) Channel Activity.
PloS one. 2015;10(3):e0119028
Authors: Blanchard MG, de Baaij JH, Verkaart SA, Lameris AL, Basmadjian C, Zhao Q, Désaubry L, Bindels RJ, Hoenderop JG
- Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2015 Jun;30(6):952-7
Authors: de Baaij JH, Dorresteijn EM, Hennekam EA, Kamsteeg EJ, Meijer R, Dahan K, Muller M, van den Dorpel MA, Bindels RJ, Hoenderop JG, Devuyst O, Knoers NV
- Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
Kidney international. 2015 Oct;88(4):676-83
Authors: Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O, Kidney Disease: Improving Global Outcomes.
- Lessons from a rare disease: IgG subclass and disease severity in alloimmune antenatal membranous nephropathy.
Kidney international. 2015 Mar;87(3):494-7
Authors: Beck LH
- Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.
Pediatric nephrology (Berlin, Germany). 2015 Aug;30(8):1279-87
Authors: Cil O, Besbas N, Duzova A, Topaloglu R, Peco-Antić A, Korkmaz E, Ozaltin F
- Identification of the genes regulated by Wnt-4, a critical signal for commitment of the ovary.
Experimental cell research. 2015 Mar 15;332(2):163-78
Authors: Naillat F, Yan W, Karjalainen R, Liakhovitskaia A, Samoylenko A, Xu Q, Sun Z, Shen B, Medvinsky A, Quaggin S, Vainio SJ
- Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.
Clinical journal of the American Society of Nephrology : CJASN. 2015 Apr 7;10(4):592-600
Authors: Trautmann A, Bodria M, Ozaltin F, Gheisari A, Melk A, Azocar M, Anarat A, Caliskan S, Emma F, Gellermann J, Oh J, Baskin E, Ksiazek J, Remuzzi G, Erdogan O, Akman S, Dusek J, Davitaia T, Özkaya O, Papachristou F, Firszt-Adamczyk A, Urasinski T, Testa S, Krmar RT, Hyla-Klekot L, Pasini A, Özcakar ZB, Sallay P, Cakar N, Galanti M, Terzic J, Aoun B, Caldas Afonso A, Szymanik-Grzelak H, Lipska BS, Schnaidt S, Schaefer F, PodoNet Consortium.
- Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome.
Blood. 2015 Apr 9;125(15):2359-69
Authors: Schramm EC, Roumenina LT, Rybkine T, Chauvet S, Vieira-Martins P, Hue C, Maga T, Valoti E, Wilson V, Jokiranta S, Smith RJ, Noris M, Goodship T, Atkinson JP, Fremeaux-Bacchi V
- Podocyte dysfunction in atypical haemolytic uraemic syndrome.
Nature reviews. Nephrology. 2015 Apr;11(4):245-52
Authors: Noris M, Mele C, Remuzzi G
- Genetic homogeneity but IgG subclass-dependent clinical variability of alloimmune membranous nephropathy with anti-neutral endopeptidase antibodies.
Kidney international. 2015 Mar;87(3):602-9
Authors: Vivarelli M, Emma F, Pellé T, Gerken C, Pedicelli S, Diomedi-Camassei F, Klaus G, Waldegger S, Ronco P, Debiec H
- Magnesium in man: implications for health and disease.
Physiological reviews. 2015 Jan;95(1):1-46
Authors: de Baaij JH, Hoenderop JG, Bindels RJ
- DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.
American journal of human genetics. 2015 Jan 8;96(1):81-92
Authors: Schueler M, Braun DA, Chandrasekar G, Gee HY, Klasson TD, Halbritter J, Bieder A, Porath JD, Airik R, Zhou W, LoTurco JJ, Che A, Otto EA, Böckenhauer D, Sebire NJ, Honzik T, Harris PC, Koon SJ, Gunay-Aygun M, Saunier S, Zerres K, Bruechle NO, Drenth JP, Pelletier L, Tapia-Páez I, Lifton RP, Giles RH, Kere J, Hildebrandt F
- Paradoxical response to furosemide in uromodulin-associated kidney disease.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2015 Feb;30(2):330-5
Authors: Labriola L, Olinger E, Belge H, Pirson Y, Dahan K, Devuyst O
- Functional models for congenital anomalies of the kidney and urinary tract.
Nephron. 2015;129(1):62-7
Authors: van de Hoek G, Nicolaou N, Giles RH, Knoers NV, Renkema KY, Bongers EM
- Distal renal tubular acidosis with multiorgan autoimmunity: a case report.
American journal of kidney diseases : the official journal of the National Kidney Foundation. 2015 Apr;65(4):607-10
Authors: van den Wildenberg MJ, Hoorn EJ, Mohebbi N, Wagner CA, Woittiez AJ, de Vries PA, Laverman GD
- Loss of DGKε induces endothelial cell activation and death independently of complement activation.
Blood. 2015 Feb 5;125(6):1038-46
Authors: Bruneau S, Néel M, Roumenina LT, Frimat M, Laurent L, Frémeaux-Bacchi V, Fakhouri F
- Renal Fanconi syndrome: taking a proximal look at the nephron.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2015 Sep;30(9):1456-60
Authors: Klootwijk ED, Reichold M, Unwin RJ, Kleta R, Warth R, Bockenhauer D
- Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.
Pediatric nephrology (Berlin, Germany). 2015 Jun;30(6):931-43
Authors: Recker F, Zaniew M, Böckenhauer D, Miglietti N, Bökenkamp A, Moczulska A, Rogowska-Kalisz A, Laube G, Said-Conti V, Kasap-Demir B, Niemirska A, Litwin M, Siteń G, Chrzanowska KH, Krajewska-Walasek M, Sethi SK, Tasic V, Anglani F, Addis M, Wasilewska A, Szczepańska M, Pawlaczyk K, Sikora P, Ludwig M
- Segmental transport of Ca²⁺ and Mg²⁺ along the gastrointestinal tract.
American journal of physiology. Gastrointestinal and liver physiology. 2015 Feb 1;308(3):G206-16
Authors: Lameris AL, Nevalainen PI, Reijnen D, Simons E, Eygensteyn J, Monnens L, Bindels RJ, Hoenderop JG
- Genome-wide association studies in nephrology: using known associations for data checks.
American journal of kidney diseases : the official journal of the National Kidney Foundation. 2015 Feb;65(2):217-22
Authors: Wuttke M, Schaefer F, Wong CS, Köttgen A
- Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
American journal of human genetics. 2014 Dec 4;95(6):637-48
Authors: Colin E, Huynh Cong E, Mollet G, Guichet A, Gribouval O, Arrondel C, Boyer O, Daniel L, Gubler MC, Ekinci Z, Tsimaratos M, Chabrol B, Boddaert N, Verloes A, Chevrollier A, Gueguen N, Desquiret-Dumas V, Ferré M, Procaccio V, Richard L, Funalot B, Moncla A, Bonneau D, Antignac C
- 3D spheroid model of mIMCD3 cells for studying ciliopathies and renal epithelial disorders.
Nature protocols. 2014 Dec;9(12):2725-31
Authors: Giles RH, Ajzenberg H, Jackson PK
- A novel antibody against human factor B that blocks formation of the C3bB proconvertase and inhibits complement activation in disease models.
Journal of immunology (Baltimore, Md. : 1950). 2014 Dec 1;193(11):5567-75
Authors: Subías M, Tortajada A, Gastoldi S, Galbusera M, López-Perrote A, Lopez Lde J, González-Fernández FA, Villegas-Martínez A, Dominguez M, Llorca O, Noris M, Morgan BP, Rodríguez de Córdoba S
- Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations.
Nephron. Physiology. 2014;128(3-4):55-61
Authors: Simpkin A, Cochran E, Cameron F, Dattani M, de Bock M, Dunger DB, Forsander G, Guran T, Harris J, Isaac I, Hussain K, Kleta R, Peters C, Tasic V, Williams R, Yap Kok Peng F, O''Rahilly S, Gorden P, Semple RK, Bockenhauer D
- Identification of a major epitope recognized by PLA2R autoantibodies in primary membranous nephropathy.
Journal of the American Society of Nephrology : JASN. 2015 Feb;26(2):302-13
Authors: Fresquet M, Jowitt TA, Gummadova J, Collins R, O'Cualain R, McKenzie EA, Lennon R, Brenchley PE
- Copeptin is associated with kidney length, renal function, and prevalence of simple cysts in a population-based study.
Journal of the American Society of Nephrology : JASN. 2015 Jun;26(6):1415-25
Authors: Ponte B, Pruijm M, Ackermann D, Vuistiner P, Guessous I, Ehret G, Alwan H, Youhanna S, Paccaud F, Mohaupt M, Péchère-Bertschi A, Vogt B, Burnier M, Martin PY, Devuyst O, Bochud M
- Factors determining penetrance in familial atypical haemolytic uraemic syndrome.
Journal of medical genetics. 2014 Nov;51(11):756-64
Authors: Sansbury FH, Cordell HJ, Bingham C, Bromilow G, Nicholls A, Powell R, Shields B, Smyth L, Warwicker P, Strain L, Wilson V, Goodship JA, Goodship TH, Turnpenny PD
- International Charter of principles for sharing bio-specimens and data.
European journal of human genetics : EJHG. 2015 Jun;23(6):721-8
Authors: Mascalzoni D, Dove ES, Rubinstein Y, Dawkins HJ, Kole A, McCormack P, Woods S, Riess O, Schaefer F, Lochmüller H, Knoppers BM, Hansson M
- The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.
Kidney international. 2015 Mar;87(3):610-22
Authors: Hall AM, Vilasi A, Garcia-Perez I, Lapsley M, Alston CL, Pitceathly RD, McFarland R, Schaefer AM, Turnbull DM, Beaumont NJ, Hsuan JJ, Cutillas PR, Lindon JC, Holmes E, Unwin RJ, Taylor RW, Gorman GS, Rahman S, Hanna MG
- Functional genetic targeting of embryonic kidney progenitor cells ex vivo.
Journal of the American Society of Nephrology : JASN. 2015 May;26(5):1126-37
Authors: Junttila S, Saarela U, Halt K, Manninen A, Pärssinen H, Lecca MR, Brändli AW, Sims-Lucas S, Skovorodkin I, Vainio SJ
- Clinical utility gene card for: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement.
European journal of human genetics : EJHG. 2015 Jun;23(6)
Authors: Claverie-Martín F, Vargas-Poussou R, Müller D, García-Nieto V
- Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2014 Sep;29 Suppl 4:iv113-6
Authors: Mihout F, Devuyst O, Bensman A, Brocheriou I, Ridel C, Wagner CA, Mohebbi N, Boffa JJ, Plaisier E, Ronco P
- Gitelman syndrome and glomerular proteinuria: a link between loss of sodium-chloride cotransporter and podocyte dysfunction?
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2014 Sep;29 Suppl 4:iv117-20
Authors: Demoulin N, Aydin S, Cosyns JP, Dahan K, Cornet G, Auberger I, Loffing J, Devuyst O
- Renal replacement therapy for rare diseases affecting the kidney: an analysis of the ERA-EDTA Registry.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2014 Sep;29 Suppl 4:iv1-8
Authors: Wühl E, van Stralen KJ, Wanner C, Ariceta G, Heaf JG, Bjerre AK, Palsson R, Duneau G, Hoitsma AJ, Ravani P, Schaefer F, Jager KJ
- Urinary tract effects of HPSE2 mutations.
Journal of the American Society of Nephrology : JASN. 2015 Apr;26(4):797-804
Authors: Stuart HM, Roberts NA, Hilton EN, McKenzie EA, Daly SB, Hadfield KD, Rahal JS, Gardiner NJ, Tanley SW, Lewis MA, Sites E, Angle B, Alves C, Lourenço T, Rodrigues M, Calado A, Amado M, Guerreiro N, Serras I, Beetz C, Varga RE, Silay MS, Darlow JM, Dobson MG, Barton DE, Hunziker M, Puri P, Feather SA, Goodship JA, Goodship TH, Lambert HJ, Cordell HJ, UK VUR Study Group., Saggar A, Kinali M, 4C Study Group., Lorenz C, Moeller K, Schaefer F, Bayazit AK, Weber S, Newman WG, Woolf AS
- Complement mutations in diacylglycerol kinase-ε-associated atypical hemolytic uremic syndrome.
Clinical journal of the American Society of Nephrology : CJASN. 2014 Sep 5;9(9):1611-9
Authors: Sánchez Chinchilla D, Pinto S, Hoppe B, Adragna M, Lopez L, Justa Roldan ML, Peña A, Lopez Trascasa M, Sánchez-Corral P, Rodríguez de Córdoba S
- Serum suPAR levels are modulated by immunosuppressive therapy of minimal change nephrotic syndrome.
Pediatric nephrology (Berlin, Germany). 2014 Dec;29(12):2411-4
Authors: Gellermann J, Schaefer F, Querfeld U
- Ten-year advances in immunopathology of glomerulonephritis: translated into patients' care or lost in translation?
Seminars in immunopathology. 2014 Jul;36(4):377-9
Authors: Ronco P, Floege J
- Dynamics of complement activation in aHUS and how to monitor eculizumab therapy.
Blood. 2014 Sep 11;124(11):1715-26
Authors: Noris M, Galbusera M, Gastoldi S, Macor P, Banterla F, Bresin E, Tripodo C, Bettoni S, Donadelli R, Valoti E, Tedesco F, Amore A, Coppo R, Ruggenenti P, Gotti E, Remuzzi G
- WT1 controls antagonistic FGF and BMP-pSMAD pathways in early renal progenitors.
Nature communications. 2014 Jul 17;5:4444
Authors: Motamedi FJ, Badro DA, Clarkson M, Lecca MR, Bradford ST, Buske FA, Saar K, Hübner N, Brändli AW, Schedl A
- New insights into disease-specific absence of complement factor H related protein C in mouse models of spontaneous autoimmune diseases.
Molecular immunology. 2014 Nov;62(1):235-48
Authors: Mehta G, Ferreira VP, Skerka C, Zipfel PF, Banda NK
- Mg2+ homeostasis: the balancing act of TRPM6.
Current opinion in nephrology and hypertension. 2014 Jul;23(4):361-9
Authors: van der Wijst J, Bindels RJ, Hoenderop JG
- Apolipoprotein M modulates erythrocyte efflux and tubular reabsorption of sphingosine-1-phosphate.
Journal of lipid research. 2014 Aug;55(8):1730-7
Authors: Sutter I, Park R, Othman A, Rohrer L, Hornemann T, Stoffel M, Devuyst O, von Eckardstein A
- Next-generation sequencing for research and diagnostics in kidney disease.
Nature reviews. Nephrology. 2014 Aug;10(8):433-44
Authors: Renkema KY, Stokman MF, Giles RH, Knoers NV
- A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation.
Journal of the American Society of Nephrology : JASN. 2015 Jan;26(1):209-19
Authors: Valoti E, Alberti M, Tortajada A, Garcia-Fernandez J, Gastoldi S, Besso L, Bresin E, Remuzzi G, Rodriguez de Cordoba S, Noris M
- The role of the cilium in hereditary tumor predisposition syndromes.
Journal of pediatric genetics. 2014 Jun;3(2):129-40
Authors: Klasson TD, Giles RH
- A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
Journal of the American Society of Nephrology : JASN. 2014 Nov;25(11):2435-43
Authors: Huynh Cong E, Bizet AA, Boyer O, Woerner S, Gribouval O, Filhol E, Arrondel C, Thomas S, Silbermann F, Canaud G, Hachicha J, Ben Dhia N, Peraldi MN, Harzallah K, Iftene D, Daniel L, Willems M, Noel LH, Bole-Feysot C, Nitschké P, Gubler MC, Mollet G, Saunier S, Antignac C
- Rare inherited kidney diseases: challenges, opportunities, and perspectives.
Lancet (London, England). 2014 May 24;383(9931):1844-59
Authors: Devuyst O, Knoers NV, Remuzzi G, Schaefer F, Board of the Working Group for Inherited Kidney Diseases of the European Renal Association and European Dialysis and Transplant Association.
- Kinase and channel activity of TRPM6 are co-ordinated by a dimerization motif and pocket interaction.
The Biochemical journal. 2014 Jun 1;460(2):165-75
Authors: van der Wijst J, Blanchard MG, Woodroof HI, Macartney TJ, Gourlay R, Hoenderop JG, Bindels RJ, Alessi DR
- Mutations in EMP2 cause childhood-onset nephrotic syndrome.
American journal of human genetics. 2014 Jun 5;94(6):884-90
Authors: Gee HY, Ashraf S, Wan X, Vega-Warner V, Esteve-Rudd J, Lovric S, Fang H, Hurd TW, Sadowski CE, Allen SJ, Otto EA, Korkmaz E, Washburn J, Levy S, Williams DS, Bakkaloglu SA, Zolotnitskaya A, Ozaltin F, Zhou W, Hildebrandt F
- Genetics of atypical hemolytic uremic syndrome (aHUS).
Seminars in thrombosis and hemostasis. 2014 Jun;40(4):422-30
Authors: Rodríguez de Córdoba S, Hidalgo MS, Pinto S, Tortajada A
- Generation of orientation tools for automated zebrafish screening assays using desktop 3D printing.
BMC biotechnology. 2014 May 1;14:36
Authors: Wittbrodt JN, Liebel U, Gehrig J
- A humanized antibody that regulates the alternative pathway convertase: potential for therapy of renal disease associated with nephritic factors.
Journal of immunology (Baltimore, Md. : 1950). 2014 May 15;192(10):4844-51
Authors: Paixão-Cavalcante D, Torreira E, Lindorfer MA, Rodriguez de Cordoba S, Morgan BP, Taylor RP, Llorca O, Harris CL
- Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.
Journal of the American Society of Nephrology : JASN. 2014 Nov;25(11):2425-33
Authors: Wong EK, Anderson HE, Herbert AP, Challis RC, Brown P, Reis GS, Tellez JO, Strain L, Fluck N, Humphrey A, Macleod A, Richards A, Ahlert D, Santibanez-Koref M, Barlow PN, Marchbank KJ, Harris CL, Goodship TH, Kavanagh D
- Immunopathogenesis of membranous nephropathy: an update.
Seminars in immunopathology. 2014 Jul;36(4):381-97
Authors: Debiec H, Ronco P
- The role of the renal ammonia transporter Rhcg in metabolic responses to dietary protein.
Journal of the American Society of Nephrology : JASN. 2014 Sep;25(9):2040-52
Authors: Bounoure L, Ruffoni D, Müller R, Kuhn GA, Bourgeois S, Devuyst O, Wagner CA
- Complement factor B mutations in atypical hemolytic uremic syndrome-disease-relevant or benign?
Journal of the American Society of Nephrology : JASN. 2014 Sep;25(9):2053-65
Authors: Marinozzi MC, Vergoz L, Rybkine T, Ngo S, Bettoni S, Pashov A, Cayla M, Tabarin F, Jablonski M, Hue C, Smith RJ, Noris M, Halbwachs-Mecarelli L, Donadelli R, Fremeaux-Bacchi V, Roumenina LT
- Proteomic urinary biomarker approach in renal disease: from discovery to implementation.
Pediatric nephrology (Berlin, Germany). 2015 May;30(5):713-25
Authors: Schanstra JP, Mischak H
- Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.
Journal of the American Society of Nephrology : JASN. 2014 Aug;25(8):1653-61
Authors: Taskiran EZ, Korkmaz E, Gucer S, Kosukcu C, Kaymaz F, Koyunlar C, Bryda EC, Chaki M, Lu D, Vadnagara K, Candan C, Topaloglu R, Schaefer F, Attanasio M, Bergmann C, Ozaltin F
- [Pathophysiology of extramembranous glomerulopathies. Fifty years of progress, from laboratory to patient].
Biologie aujourd'hui. 2013;207(4):249-59
Authors: Ronco P, Debiec H
- CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.
PLoS genetics. 2014 Apr;10(4):e1004267
Authors: Arjona FJ, de Baaij JH, Schlingmann KP, Lameris AL, van Wijk E, Flik G, Regele S, Korenke GC, Neophytou B, Rust S, Reintjes N, Konrad M, Bindels RJ, Hoenderop JG
- Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.
Journal of the American Society of Nephrology : JASN. 2014 Aug;25(8):1869-82
Authors: Olden M, Corre T, Hayward C, Toniolo D, Ulivi S, Gasparini P, Pistis G, Hwang SJ, Bergmann S, Campbell H, Cocca M, Gandin I, Girotto G, Glaudemans B, Hastie ND, Loffing J, Polasek O, Rampoldi L, Rudan I, Sala C, Traglia M, Vollenweider P, Vuckovic D, Youhanna S, Weber J, Wright AF, Kutalik Z, Bochud M, Fox CS, Devuyst O
- Engineering Xenopus embryos for phenotypic drug discovery screening.
Advanced drug delivery reviews. 2014 Apr;69-70:225-46
Authors: Schmitt SM, Gull M, Brändli AW
- Coordinated regulation of TRPV5-mediated Ca²⁺ transport in primary distal convolution cultures.
Pflugers Archiv : European journal of physiology. 2014 Nov;466(11):2077-87
Authors: van der Hagen EA, Lavrijsen M, van Zeeland F, Praetorius J, Bonny O, Bindels RJ, Hoenderop JG
- Hemolytic uremic syndrome.
Seminars in immunopathology. 2014 Jul;36(4):399-420
Authors: Mele C, Remuzzi G, Noris M
- Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.
Nature genetics. 2014 Mar;46(3):299-304
Authors: Tory K, Menyhárd DK, Woerner S, Nevo F, Gribouval O, Kerti A, Stráner P, Arrondel C, Huynh Cong E, Tulassay T, Mollet G, Perczel A, Antignac C
- The von Hippel-Lindau tumor suppressor regulates programmed cell death 5-mediated degradation of Mdm2.
Oncogene. 2015 Feb 5;34(6):771-9
Authors: Essers PB, Klasson TD, Pereboom TC, Mans DA, Nicastro M, Boldt K, Giles RH, MacInnes AW
- Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
American journal of human genetics. 2014 Feb 6;94(2):288-94
Authors: Humbert C, Silbermann F, Morar B, Parisot M, Zarhrate M, Masson C, Tores F, Blanchet P, Perez MJ, Petrov Y, Khau Van Kien P, Roume J, Leroy B, Gribouval O, Kalaydjieva L, Heidet L, Salomon R, Antignac C, Benmerah A, Saunier S, Jeanpierre C
- Cardiovascular complications in atypical haemolytic uraemic syndrome.
Nature reviews. Nephrology. 2014 Mar;10(3):174-80
Authors: Noris M, Remuzzi G
- P2X4 receptor regulation of transient receptor potential melastatin type 6 (TRPM6) Mg2+ channels.
Pflugers Archiv : European journal of physiology. 2014 Oct;466(10):1941-52
Authors: de Baaij JH, Blanchard MG, Lavrijsen M, Leipziger J, Bindels RJ, Hoenderop JG
- Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.
The New England journal of medicine. 2014 Jan 9;370(2):129-38
Authors: Klootwijk ED, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette SL, Reinders J, Peindl D, Renner K, Eberhart K, Assmann N, Oefner PJ, Dettmer K, Sterner C, Schroeder J, Zorger N, Witzgall R, Reinhold SW, Stanescu HC, Bockenhauer D, Jaureguiberry G, Courtneidge H, Hall AM, Wijeyesekera AD, Holmes E, Nicholson JK, O'Brien K, Bernardini I, Krasnewich DM, Arcos-Burgos M, Izumi Y, Nonoguchi H, Jia Y, Reddy JK, Ilyas M, Unwin RJ, Gahl WA, Warth R, Kleta R
- Genotype-phenotype associations in WT1 glomerulopathy.
Kidney international. 2014 May;85(5):1169-78
Authors: Lipska BS, Ranchin B, Iatropoulos P, Gellermann J, Melk A, Ozaltin F, Caridi G, Seeman T, Tory K, Jankauskiene A, Zurowska A, Szczepanska M, Wasilewska A, Harambat J, Trautmann A, Peco-Antic A, Borzecka H, Moczulska A, Saeed B, Bogdanovic R, Kalyoncu M, Simkova E, Erdogan O, Vrljicak K, Teixeira A, Azocar M, Schaefer F, PodoNet Consortium.
- A novel claudin-16 mutation, severe bone disease, and nephrocalcinosis.
Lancet (London, England). 2014 Jan 4;383(9911):98
Authors: Nadarajah L, Khosravi M, Dumitriu S, Klootwijk E, Kleta R, Yaqoob MM, Walsh SB
- Clinical proteomics in obstetrics and neonatology.
Expert review of proteomics. 2014 Feb;11(1):75-89
Authors: Klein J, Buffin-Meyer B, Mullen W, Carty DM, Delles C, Vlahou A, Mischak H, Decramer S, Bascands JL, Schanstra JP
- Complement factor H-related hybrid protein deregulates complement in dense deposit disease.
The Journal of clinical investigation. 2014 Jan;124(1):145-55
Authors: Chen Q, Wiesener M, Eberhardt HU, Hartmann A, Uzonyi B, Kirschfink M, Amann K, Buettner M, Goodship T, Hugo C, Skerka C, Zipfel PF
- Complement factor H related proteins (CFHRs).
Molecular immunology. 2013 Dec 15;56(3):170-80
Authors: Skerka C, Chen Q, Fremeaux-Bacchi V, Roumenina LT
- Omeprazole enhances the colonic expression of the Mg(2+) transporter TRPM6.
Pflugers Archiv : European journal of physiology. 2013 Nov;465(11):1613-20
Authors: Lameris AL, Hess MW, van Kruijsbergen I, Hoenderop JG, Bindels RJ
- Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis.
Human molecular genetics. 2014 May 1;23(9):2266-78
Authors: Raggi C, Luciani A, Nevo N, Antignac C, Terryn S, Devuyst O
- Development of an automated imaging pipeline for the analysis of the zebrafish larval kidney.
PloS one. 2013;8(12):e82137
Authors: Westhoff JH, Giselbrecht S, Schmidts M, Schindler S, Beales PL, Tönshoff B, Liebel U, Gehrig J
- ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
The Journal of clinical investigation. 2013 Dec;123(12):5179-89
Authors: Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Böckenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F
- Allo-immune membranous nephropathy and recombinant aryl sulfatase replacement therapy: a need for tolerance induction therapy.
Journal of the American Society of Nephrology : JASN. 2014 Apr;25(4):675-80
Authors: Debiec H, Valayannopoulos V, Boyer O, Nöel LH, Callard P, Sarda H, de Lonlay P, Niaudet P, Ronco P
- Epilepsy in kcnj10 morphant zebrafish assessed with a novel method for long-term EEG recordings.
PloS one. 2013;8(11):e79765
Authors: Zdebik AA, Mahmood F, Stanescu HC, Kleta R, Bockenhauer D, Russell C
- Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
Journal of the American Society of Nephrology : JASN. 2014 Mar;25(3):574-86
Authors: Ferrè S, de Baaij JH, Ferreira P, Germann R, de Klerk JB, Lavrijsen M, van Zeeland F, Venselaar H, Kluijtmans LA, Hoenderop JG, Bindels RJ
- Systematically differentiating functions for alternatively spliced isoforms through integrating RNA-seq data.
PLoS computational biology. 2013;9(11):e1003314
Authors: Eksi R, Li HD, Menon R, Wen Y, Omenn GS, Kretzler M, Guan Y
- Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression.
Nature medicine. 2013 Dec;19(12):1655-60
Authors: Trudu M, Janas S, Lanzani C, Debaix H, Schaeffer C, Ikehata M, Citterio L, Demaretz S, Trevisani F, Ristagno G, Glaudemans B, Laghmani K, Dell'Antonio G, SKIPOGH team., Loffing J, Rastaldi MP, Manunta P, Devuyst O, Rampoldi L
- KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
Nephron. Physiology. 2013;123(3-4):7-14
Authors: Parrock S, Hussain S, Issler N, Differ AM, Lench N, Guarino S, Oosterveld MJ, Keijzer-Veen M, Brilstra E, van Wieringen H, Konijnenberg AY, Amin-Rasip S, Dumitriu S, Klootwijk E, Knoers N, Bockenhauer D, Kleta R, Zdebik AA
- Managing and preventing atypical hemolytic uremic syndrome recurrence after kidney transplantation.
Current opinion in nephrology and hypertension. 2013 Nov;22(6):704-12
Authors: Noris M, Remuzzi G
- Overview of complement activation and regulation.
Seminars in nephrology. 2013 Nov;33(6):479-92
Authors: Noris M, Remuzzi G
- NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
Human mutation. 2014 Feb;35(2):178-86
Authors: Bouchireb K, Boyer O, Gribouval O, Nevo F, Huynh-Cong E, Morinière V, Campait R, Ars E, Brackman D, Dantal J, Eckart P, Gigante M, Lipska BS, Liutkus A, Megarbane A, Mohsin N, Ozaltin F, Saleem MA, Schaefer F, Soulami K, Torra R, Garcelon N, Mollet G, Dahan K, Antignac C
- Determination of uromodulin in human urine: influence of storage and processing.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2014 Jan;29(1):136-45
Authors: Youhanna S, Weber J, Beaujean V, Glaudemans B, Sobek J, Devuyst O
- A molecular update on pseudohypoaldosteronism type II.
American journal of physiology. Renal physiology. 2013 Dec 1;305(11):F1513-20
Authors: Pathare G, Hoenderop JG, Bindels RJ, San-Cristobal P
- Eculizumab in an anephric patient with atypical haemolytic uraemic syndrome and advanced vascular lesions.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2013 Nov;28(11):2899-907
Authors: Békássy ZD, Kristoffersson AC, Cronqvist M, Roumenina LT, Rybkine T, Vergoz L, Hue C, Fremeaux-Bacchi V, Karpman D
- Early development of hyperparathyroidism due to loss of PTH transcriptional repression in patients with HNF1β mutations?
The Journal of clinical endocrinology and metabolism. 2013 Oct;98(10):4089-96
Authors: Ferrè S, Bongers EM, Sonneveld R, Cornelissen EA, van der Vlag J, van Boekel GA, Wetzels JF, Hoenderop JG, Bindels RJ, Nijenhuis T
- Eculizumab long-term therapy for pediatric renal transplant in aHUS with CFH/CFHR1 hybrid gene.
Pediatric nephrology (Berlin, Germany). 2014 Jan;29(1):149-53
Authors: Román-Ortiz E, Mendizabal Oteiza S, Pinto S, López-Trascasa M, Sánchez-Corral P, Rodríguez de Cordoba S
- Structural basis for the stabilization of the complement alternative pathway C3 convertase by properdin.
Proceedings of the National Academy of Sciences of the United States of America. 2013 Aug 13;110(33):13504-9
Authors: Alcorlo M, Tortajada A, Rodríguez de Córdoba S, Llorca O
- Ankyrin-3 is a novel binding partner of the voltage-gated potassium channel Kv1.1 implicated in renal magnesium handling.
Kidney international. 2014 Jan;85(1):94-102
Authors: San-Cristobal P, Lainez S, Dimke H, de Graaf MJ, Hoenderop JG, Bindels RJ
- A primary culture system of mouse thick ascending limb cells with preserved function and uromodulin processing.
Pflugers Archiv : European journal of physiology. 2014 Feb;466(2):343-56
Authors: Glaudemans B, Terryn S, Gölz N, Brunati M, Cattaneo A, Bachi A, Al-Qusairi L, Ziegler U, Staub O, Rampoldi L, Devuyst O
- Genetic deletion of aquaporin-1 results in microcardia and low blood pressure in mouse with intact nitric oxide-dependent relaxation, but enhanced prostanoids-dependent relaxation.
Pflugers Archiv : European journal of physiology. 2014 Feb;466(2):237-51
Authors: Montiel V, Leon Gomez E, Bouzin C, Esfahani H, Romero Perez M, Lobysheva I, Devuyst O, Dessy C, Balligand JL
- Complement activation by heme as a secondary hit for atypical hemolytic uremic syndrome.
Blood. 2013 Jul 11;122(2):282-92
Authors: Frimat M, Tabarin F, Dimitrov JD, Poitou C, Halbwachs-Mecarelli L, Fremeaux-Bacchi V, Roumenina LT
- Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
Kidney international. 2013 Jul;84(1):206-13
Authors: Lipska BS, Iatropoulos P, Maranta R, Caridi G, Ozaltin F, Anarat A, Balat A, Gellermann J, Trautmann A, Erdogan O, Saeed B, Emre S, Bogdanovic R, Azocar M, Balasz-Chmielewska I, Benetti E, Caliskan S, Mir S, Melk A, Ertan P, Baskin E, Jardim H, Davitaia T, Wasilewska A, Drozdz D, Szczepanska M, Jankauskiene A, Higuita LM, Ardissino G, Ozkaya O, Kuzma-Mroczkowska E, Soylemezoglu O, Ranchin B, Medynska A, Tkaczyk M, Peco-Antic A, Akil I, Jarmolinski T, Firszt-Adamczyk A, Dusek J, Simonetti GD, Gok F, Gheissari A, Emma F, Krmar RT, Fischbach M, Printza N, Simkova E, Mele C, Ghiggeri GM, Schaefer F, PodoNet Consortium.
- Standardisation of the factor H autoantibody assay.
Immunobiology. 2014 Jan;219(1):9-16
Authors: Watson R, Lindner S, Bordereau P, Hunze EM, Tak F, Ngo S, Zipfel PF, Skerka C, Dragon-Durey MA, Marchbank KJ
- Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons. 2013 Aug;13(8):2201-6
Authors: Alberti M, Valoti E, Piras R, Bresin E, Galbusera M, Tripodo C, Thaiss F, Remuzzi G, Noris M
- C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation.
The Journal of clinical investigation. 2013 Jun;123(6):2434-46
Authors: Tortajada A, Yébenes H, Abarrategui-Garrido C, Anter J, García-Fernández JM, Martínez-Barricarte R, Alba-Domínguez M, Malik TH, Bedoya R, Cabrera Pérez R, López Trascasa M, Pickering MC, Harris CL, Sánchez-Corral P, Llorca O, Rodríguez de Córdoba S
- Circulating antipodocyte antibodies in membranous nephropathy: pathophysiologic and clinical relevance.
American journal of kidney diseases : the official journal of the National Kidney Foundation. 2013 Jul;62(1):16-9
Authors: Ronco P, Debiec H, Imai H
- Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.
Journal of applied genetics. 2013 Aug;54(3):327-33
Authors: Lipska BS, Balasz-Chmielewska I, Morzuch L, Wasielewski K, Vetter D, Borzecka H, Drozdz D, Firszt-Adamczyk A, Gacka E, Jarmolinski T, Ksiazek J, Kuzma-Mroczkowska E, Litwin M, Medynska A, Silska M, Szczepanska M, Tkaczyk M, Wasilewska A, Schaefer F, Zurowska A, Limon J
- Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome.
Disease models & mechanisms. 2013 May;6(3):652-60
Authors: Mahmood F, Mozere M, Zdebik AA, Stanescu HC, Tobin J, Beales PL, Kleta R, Bockenhauer D, Russell C
- Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
Nature genetics. 2013 May;45(5):531-6
Authors: Lemaire M, Frémeaux-Bacchi V, Schaefer F, Choi M, Tang WH, Le Quintrec M, Fakhouri F, Taque S, Nobili F, Martinez F, Ji W, Overton JD, Mane SM, Nürnberg G, Altmüller J, Thiele H, Morin D, Deschenes G, Baudouin V, Llanas B, Collard L, Majid MA, Simkova E, Nürnberg P, Rioux-Leclerc N, Moeckel GW, Gubler MC, Hwa J, Loirat C, Lifton RP
- Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy.
Journal of the American Society of Nephrology : JASN. 2013 Mar;24(4):677-83
Authors: Coenen MJ, Hofstra JM, Debiec H, Stanescu HC, Medlar AJ, Stengel B, Boland-Augé A, Groothuismink JM, Bockenhauer D, Powis SH, Mathieson PW, Brenchley PE, Kleta R, Wetzels JF, Ronco P
- Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Nephron. Physiology. 2012;122(1-2):1-6
Authors: Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R
- Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.
Journal of the American Society of Nephrology : JASN. 2013 Feb;24(3):475-86
Authors: Bresin E, Rurali E, Caprioli J, Sanchez-Corral P, Fremeaux-Bacchi V, Rodriguez de Cordoba S, Pinto S, Goodship TH, Alberti M, Ribes D, Valoti E, Remuzzi G, Noris M, European Working Party on Complement Genetics in Renal Diseases.
- Elucidation of the distal convoluted tubule transcriptome identifies new candidate genes involved in renal Mg(2+) handling.
American journal of physiology. Renal physiology. 2013 Dec 1;305(11):F1563-73
Authors: de Baaij JH, Groot Koerkamp MJ, Lavrijsen M, van Zeeland F, Meijer H, Holstege FC, Bindels RJ, Hoenderop JG
- Animal models of nephrotic syndrome.
Pediatric nephrology (Berlin, Germany). 2013 Nov;28(11):2079-88
Authors: Simic I, Tabatabaeifar M, Schaefer F
- [Anti-CD 10 maternal-fetal allo-immunisation].
Bulletin de l'Academie nationale de medecine. 2012 Nov;196(8):1613-22; discussion 1622-3
Authors: Ronco P, Debiec H