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Items: 1 to 50 of 285

1.

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Brix Folsted Andersen C, Bergmann C, Antignac C, Simons M.

J Clin Invest. 2019 Oct 15. pii: 129937. doi: 10.1172/JCI129937. [Epub ahead of print]

2.

Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression.

Janssens V, Gaide Chevronnay HP, Marie S, Vincent MF, Van Der Smissen P, Nevo N, Vainio S, Nielsen R, Christensen EI, Jouret F, Antignac C, Pierreux CE, Courtoy PJ.

J Am Soc Nephrol. 2019 Nov;30(11):2177-2190. doi: 10.1681/ASN.2019040371. Epub 2019 Sep 23.

PMID:
31548351
3.

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.

Arrondel C, Missoury S, Snoek R, Patat J, Menara G, Collinet B, Liger D, Durand D, Gribouval O, Boyer O, Buscara L, Martin G, Machuca E, Nevo F, Lescop E, Braun DA, Boschat AC, Sanquer S, Guerrera IC, Revy P, Parisot M, Masson C, Boddaert N, Charbit M, Decramer S, Novo R, Macher MA, Ranchin B, Bacchetta J, Laurent A, Collardeau-Frachon S, van Eerde AM, Hildebrandt F, Magen D, Antignac C, van Tilbeurgh H, Mollet G.

Nat Commun. 2019 Sep 3;10(1):3967. doi: 10.1038/s41467-019-11951-x.

4.

Central nervous system complications in adult cystinosis patients.

Servais A, Saitovitch A, Hummel A, Boisgontier J, Scemla A, Sberro-Soussan R, Snanoudj R, Lemaitre H, Legendre C, Pontoizeau C, Antignac C, Anglicheau D, Funalot B, Boddaert N.

J Inherit Metab Dis. 2019 Aug 24. doi: 10.1002/jimd.12164. [Epub ahead of print]

PMID:
31444911
5.

Urokinase-type plasminogen activator contributes to amiloride-sensitive sodium retention in nephrotic range glomerular proteinuria in mice.

Hinrichs GR, Weyer K, Friis UG, Svenningsen P, Lund IK, Nielsen R, Mollet G, Antignac C, Bistrup C, Jensen BL, Birn H.

Acta Physiol (Oxf). 2019 Dec;227(4):e13362. doi: 10.1111/apha.13362. Epub 2019 Sep 17.

PMID:
31423748
6.

WITHDRAWN: APOL1 risk genotype in Europe: Data in patients with focal segmental glomerulosclerosis and after renal transplantation.

Servais A, Gribouval O, Gaillard F, Antignac C.

Nephrol Ther. 2019 Apr;15 Suppl 1:S85-S89. doi: 10.1016/j.nephro.2019.02.005.

PMID:
30981401
7.

Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.

Lobry T, Miller R, Nevo N, Rocca CJ, Zhang J, Catz SD, Moore F, Thomas L, Pouly D, Bailleux A, Guerrera IC, Gubler MC, Cheung WW, Mak RH, Montier T, Antignac C, Cherqui S.

Kidney Int. 2019 Aug;96(2):350-362. doi: 10.1016/j.kint.2019.01.029. Epub 2019 Mar 6.

PMID:
30928021
8.

Nephrotic syndrome and mitochondrial disorders: answers.

Bernardor J, Faudeux C, Chaussenot A, Antignac C, Goldenberg A, Gubler MC, Wagner N, Bérard E.

Pediatr Nephrol. 2019 Aug;34(8):1375-1377. doi: 10.1007/s00467-019-04217-7. Epub 2019 Mar 12. No abstract available.

PMID:
30863911
9.

Nephrotic syndrome and mitochondrial disorders: Questions.

Bernardor J, Faudeux C, Chaussenot A, Antignac C, Goldenberg A, Gubler MC, Wagner N, Bérard E.

Pediatr Nephrol. 2019 Aug;34(8):1373-1374. doi: 10.1007/s00467-019-04216-8. Epub 2019 Mar 12. No abstract available.

PMID:
30863910
10.

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.

Dorval G, Kuzmuk V, Gribouval O, Welsh GI, Bierzynska A, Schmitt A, Miserey-Lenkei S, Koziell A, Haq S, Benmerah A, Mollet G, Boyer O, Saleem MA, Antignac C.

Am J Hum Genet. 2019 Feb 7;104(2):348-355. doi: 10.1016/j.ajhg.2018.12.016. Epub 2019 Jan 17.

11.

Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

Gonçalves S, Patat J, Guida MC, Lachaussée N, Arrondel C, Helmstädter M, Boyer O, Gribouval O, Gubler MC, Mollet G, Rio M, Charbit M, Bole-Feysot C, Nitschke P, Huber TB, Wheeler PG, Haynes D, Juusola J, de Villemeur TB, Nava C, Afenjar A, Keren B, Bodmer R, Antignac C, Simons M.

PLoS Genet. 2018 Oct 26;14(10):e1007748. doi: 10.1371/journal.pgen.1007748. eCollection 2018 Oct.

12.

Identification of genetic causes for sporadic steroid-resistant nephrotic syndrome in adults.

Gribouval O, Boyer O, Hummel A, Dantal J, Martinez F, Sberro-Soussan R, Etienne I, Chauveau D, Delahousse M, Lionet A, Allard J, Pouteil Noble C, Tête MJ, Heidet L, Antignac C, Servais A.

Kidney Int. 2018 Nov;94(5):1013-1022. doi: 10.1016/j.kint.2018.07.024.

PMID:
30348286
13.

The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.

Mikó Á, K Menyhárd D, Kaposi A, Antignac C, Tory K.

Hum Mutat. 2018 Dec;39(12):1854-1860. doi: 10.1002/humu.23660. Epub 2018 Oct 22. Review.

PMID:
30260545
14.

Comparison of Postdonation Kidney Function Between Caucasian Donors and Low-risk APOL1 Genotype Living Kidney Donors of African Ancestry.

Gaillard F, Gribouval O, Courbebaisse M, Fournier C, Antignac C, Legendre C, Servais A.

Transplantation. 2018 Nov;102(11):e462-e463. doi: 10.1097/TP.0000000000002405. No abstract available.

PMID:
30247453
15.

Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.

Assoum M, Lines MA, Elpeleg O, Darmency V, Whiting S, Edvardson S, Devinsky O, Heinzen E, Hernan RR, Antignac C, Deleuze JF, Des Portes V, Bertholet-Thomas A, Belot A, Geller E, Lemesle M, Duffourd Y, Thauvin-Robinet C, Thevenon J, Chung W, Lowenstein DH, Faivre L.

Am J Med Genet A. 2018 Nov;176(11):2470-2478. doi: 10.1002/ajmg.a.40357. Epub 2018 Sep 23.

PMID:
30244534
16.

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.

Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F.

J Clin Invest. 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4.

17.

Renal tubular dysgenesis and microcolon, a novel association. Report of three cases.

Saskin A, Alfares A, Bernard C, Blumenkrantz M, Braverman N, Gupta I, Brosnihan KB, Antignac C, Gubler MC, Morinière V, De Bie I, Bitzan M.

Eur J Med Genet. 2019 Apr;62(4):254-258. doi: 10.1016/j.ejmg.2018.07.024. Epub 2018 Jul 31.

PMID:
30071301
18.

APOL1 risk genotype in European steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis patients of different African ancestries.

Gribouval O, Boyer O, Knebelmann B, Karras A, Dantal J, Fourrage C, Alibeu O, Hogan J, Dossier C, Tête MJ, Antignac C, Servais A.

Nephrol Dial Transplant. 2019 Nov 1;34(11):1885-1893. doi: 10.1093/ndt/gfy176.

PMID:
29992269
19.

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

Gonçalves S, Patat J, Guida MC, Lachaussée N, Arrondel C, Helmstädter M, Boyer O, Gribouval O, Gubler MC, Mollet G, Rio M, Charbit M, Bole-Feysot C, Nitschke P, Huber TB, Wheeler PG, Haynes D, Juusola J, Billette de Villemeur T, Nava C, Afenjar A, Keren B, Bodmer R, Antignac C, Simons M.

PLoS Genet. 2018 May 16;14(5):e1007386. doi: 10.1371/journal.pgen.1007386. eCollection 2018 May. Erratum in: PLoS Genet. 2018 Oct 26;14(10):e1007748.

20.

C-terminal oligomerization of podocin mediates interallelic interactions.

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.

Biochim Biophys Acta Mol Basis Dis. 2018 Jul;1864(7):2448-2457. doi: 10.1016/j.bbadis.2018.04.008. Epub 2018 Apr 13.

21.

Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.

Serrano-Perez MC, Tilley FC, Nevo F, Arrondel C, Sbissa S, Martin G, Tory K, Antignac C, Mollet G.

J Biol Chem. 2018 Mar 16;293(11):4122-4133. doi: 10.1074/jbc.RA117.001159. Epub 2018 Jan 30.

22.

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.

Lata S, Marasa M, Li Y, Fasel DA, Groopman E, Jobanputra V, Rasouly H, Mitrotti A, Westland R, Verbitsky M, Nestor J, Slater LM, D'Agati V, Zaniew M, Materna-Kiryluk A, Lugani F, Caridi G, Rampoldi L, Mattoo A, Newton CA, Rao MK, Radhakrishnan J, Ahn W, Canetta PA, Bomback AS, Appel GB, Antignac C, Markowitz GS, Garcia CK, Kiryluk K, Sanna-Cherchi S, Gharavi AG.

Ann Intern Med. 2018 Jan 16;168(2):100-109. doi: 10.7326/M17-1319. Epub 2017 Dec 5. Erratum in: Ann Intern Med. 2018 Feb 20;168(4):308.

23.

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.

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.

Pediatr Nephrol. 2018 Mar;33(3):473-483. doi: 10.1007/s00467-017-3819-9. Epub 2017 Oct 23.

PMID:
29058154
24.

An inducible mouse model of podocin-mutation-related nephrotic syndrome.

Tabatabaeifar M, Wlodkowski T, Simic I, Denc H, Mollet G, Weber S, Moyers JJ, Brühl B, Randles MJ, Lennon R, Antignac C, Schaefer F.

PLoS One. 2017 Oct 19;12(10):e0186574. doi: 10.1371/journal.pone.0186574. eCollection 2017.

25.

Abolishment of proximal tubule albumin endocytosis does not affect plasma albumin during nephrotic syndrome in mice.

Weyer K, Andersen PK, Schmidt K, Mollet G, Antignac C, Birn H, Nielsen R, Christensen EI.

Kidney Int. 2018 Feb;93(2):335-342. doi: 10.1016/j.kint.2017.07.024. Epub 2017 Oct 14.

PMID:
29032953
26.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

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.

Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14.

27.

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.

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.

PLoS One. 2017 Aug 10;12(8):e0180926. doi: 10.1371/journal.pone.0180926. eCollection 2017.

28.

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

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.

J Am Soc Nephrol. 2017 Oct;28(10):2901-2914. doi: 10.1681/ASN.2017010043. Epub 2017 May 31.

29.

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

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.

J Clin Invest. 2017 Mar 1;127(3):912-928. doi: 10.1172/JCI89626. Epub 2017 Feb 6.

30.

Impact of Cystinosin Glycosylation on Protein Stability by Differential Dynamic Stable Isotope Labeling by Amino Acids in Cell Culture (SILAC).

Nevo N, Thomas L, Chhuon C, Andrzejewska Z, Lipecka J, Guillonneau F, Bailleux A, Edelman A, Antignac C, Guerrera IC.

Mol Cell Proteomics. 2017 Mar;16(3):457-468. doi: 10.1074/mcp.M116.063867. Epub 2017 Jan 12.

31.

QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions.

Jávorszky E, Morinière V, Kerti A, Balogh E, Pikó H, Saunier S, Karcagi V, Antignac C, Tory K.

Clin Chem Lab Med. 2017 May 1;55(6):809-816. doi: 10.1515/cclm-2016-0819.

PMID:
28002029
32.

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease.

Lewis WR, Malarkey EB, Tritschler D, Bower R, Pasek RC, Porath JD, Birket SE, Saunier S, Antignac C, Knowles MR, Leigh MW, Zariwala MA, Challa AK, Kesterson RA, Rowe SM, Drummond IA, Parant JM, Hildebrandt F, Porter ME, Yoder BK, Berbari NF.

PLoS Genet. 2016 Jul 29;12(7):e1006220. doi: 10.1371/journal.pgen.1006220. eCollection 2016 Jul.

33.

Karyomegalic Interstitial Nephritis: A Case Report and Review of the Literature.

Isnard P, Rabant M, Labaye J, Antignac C, Knebelmann B, Zaidan M.

Medicine (Baltimore). 2016 May;95(20):e3349. doi: 10.1097/MD.0000000000003349. Review.

34.

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.

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.

PLoS Genet. 2016 Mar 11;12(3):e1005894. doi: 10.1371/journal.pgen.1005894. eCollection 2016 Mar.

35.

Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Lipocalin 2.

El Karoui K, Viau A, Dellis O, Bagattin A, Nguyen C, Baron W, Burtin M, Broueilh M, Heidet L, Mollet G, Druilhe A, Antignac C, Knebelmann B, Friedlander G, Bienaimé F, Gallazzini M, Terzi F.

Nat Commun. 2016 Jan 20;7:10330. doi: 10.1038/ncomms10330.

36.

Macroscopic hematuria with normal renal biopsy-following the chain to the diagnosis: Answers.

Truong J, Deschênes G, Callard P, Antignac C, Niel O.

Pediatr Nephrol. 2017 Feb;32(2):279-281. doi: 10.1007/s00467-015-3268-2. Epub 2015 Dec 1.

PMID:
26628280
37.

Macroscopic hematuria with normal renal biopsy-following the chain to the diagnosis: Questions.

Truong J, Deschênes G, Callard P, Antignac C, Niel O.

Pediatr Nephrol. 2017 Feb;32(2):277-278. doi: 10.1007/s00467-015-3266-4. Epub 2015 Dec 1.

PMID:
26628277
38.

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

Bizet AA, Becker-Heck A, Ryan R, Weber K, Filhol E, Krug P, Halbritter J, Delous M, Lasbennes MC, Linghu B, Oakeley EJ, Zarhrate M, Nitschké P, Garfa-Traore M, Serluca F, Yang F, Bouwmeester T, Pinson L, Cassuto E, Dubot P, Elshakhs NAS, Sahel JA, Salomon R, Drummond IA, Gubler MC, Antignac C, Chibout S, Szustakowski JD, Hildebrandt F, Lorentzen E, Sailer AW, Benmerah A, Saint-Mezard P, Saunier S.

Nat Commun. 2015 Oct 21;6:8666. doi: 10.1038/ncomms9666.

39.

Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling.

Andrzejewska Z, Nevo N, Thomas L, Chhuon C, Bailleux A, Chauvet V, Courtoy PJ, Chol M, Guerrera IC, Antignac C.

J Am Soc Nephrol. 2016 Jun;27(6):1678-88. doi: 10.1681/ASN.2014090937. Epub 2015 Oct 8.

40.

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.

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.

J Am Soc Nephrol. 2016 Jan;27(1):63-8. doi: 10.1681/ASN.2014121240. Epub 2015 May 12.

41.

The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees.

Antignac C, Calvet JP, Germino GG, Grantham JJ, Guay-Woodford LM, Harris PC, Hildebrandt F, Peters DJ, Somlo S, Torres VE, Walz G, Zhou J, Yu AS.

J Am Soc Nephrol. 2015 Sep;26(9):2081-95. doi: 10.1681/ASN.2014121192. Epub 2015 May 7.

42.

A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing.

Gaide Chevronnay HP, Janssens V, Van Der Smissen P, Liao XH, Abid Y, Nevo N, Antignac C, Refetoff S, Cherqui S, Pierreux CE, Courtoy PJ.

Endocrinology. 2015 Jun;156(6):2349-64. doi: 10.1210/en.2014-1672. Epub 2015 Mar 26.

43.

Lysosomal Targeting of Cystinosin Requires AP-3.

Andrzejewska Z, Névo N, Thomas L, Bailleux A, Chauvet V, Benmerah A, Antignac C.

Traffic. 2015 Jul;16(7):712-26. doi: 10.1111/tra.12277. Epub 2015 Mar 24.

44.

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

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.

Kidney Int. 2015 Oct;88(4):676-83. doi: 10.1038/ki.2015.28. Epub 2015 Mar 4.

PMID:
25738250
45.

The swan-neck lesion: proximal tubular adaptation to oxidative stress in nephropathic cystinosis.

Galarreta CI, Forbes MS, Thornhill BA, Antignac C, Gubler MC, Nevo N, Murphy MP, Chevalier RL.

Am J Physiol Renal Physiol. 2015 May 15;308(10):F1155-66. doi: 10.1152/ajprenal.00591.2014. Epub 2015 Feb 18.

46.

Evidence of digenic inheritance in Alport syndrome.

Mencarelli MA, Heidet L, Storey H, van Geel M, Knebelmann B, Fallerini C, Miglietti N, Antonucci MF, Cetta F, Sayer JA, van den Wijngaard A, Yau S, Mari F, Bruttini M, Ariani F, Dahan K, Smeets B, Antignac C, Flinter F, Renieri A.

J Med Genet. 2015 Mar;52(3):163-74. doi: 10.1136/jmedgenet-2014-102822. Epub 2015 Jan 9.

PMID:
25575550
47.

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.

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.

Am J Hum Genet. 2014 Dec 4;95(6):637-48. doi: 10.1016/j.ajhg.2014.10.011. Epub 2014 Nov 13.

48.

Nephropathic cystinosis: an international consensus document.

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