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A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
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. Huynh Cong E, et al. Among authors: mollet g. J Am Soc Nephrol. 2014 Nov;25(11):2435-43. doi: 10.1681/ASN.2013101126. Epub 2014 May 29. J Am Soc Nephrol. 2014. PMID: 24876116 Free PMC article.
Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis.
Boyer O, Benoit G, Gribouval O, Nevo F, Tête MJ, Dantal J, Gilbert-Dussardier B, Touchard G, Karras A, Presne C, Grunfeld JP, Legendre C, Joly D, Rieu P, Mohsin N, Hannedouche T, Moal V, Gubler MC, Broutin I, Mollet G, Antignac C. Boyer O, et al. Among authors: mollet g. J Am Soc Nephrol. 2011 Feb;22(2):239-45. doi: 10.1681/ASN.2010050518. Epub 2011 Jan 21. J Am Soc Nephrol. 2011. PMID: 21258034 Free PMC article.
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tête MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G. Boyer O, et al. Among authors: mollet g. N Engl J Med. 2011 Dec 22;365(25):2377-88. doi: 10.1056/NEJMoa1109122. N Engl J Med. 2011. PMID: 22187985 Free article.
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
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. Bouchireb K, et al. Among authors: mollet g. Hum Mutat. 2014 Feb;35(2):178-86. doi: 10.1002/humu.22485. Epub 2013 Dec 9. Hum Mutat. 2014. PMID: 24227627 Review.
43 results