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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: gubler mc. 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.
X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.
Jais JP, Knebelmann B, Giatras I, Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. Jais JP, et al. Among authors: gubler mc. J Am Soc Nephrol. 2000 Apr;11(4):649-657. doi: 10.1681/ASN.V114649. J Am Soc Nephrol. 2000. PMID: 10752524
Podocin localizes in the kidney to the slit diaphragm area.
Roselli S, Gribouval O, Boute N, Sich M, Benessy F, Attié T, Gubler MC, Antignac C. Roselli S, et al. Among authors: gubler mc. Am J Pathol. 2002 Jan;160(1):131-9. doi: 10.1016/S0002-9440(10)64357-X. Am J Pathol. 2002. PMID: 11786407 Free PMC article.
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.
Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. Jais JP, et al. Among authors: gubler mc. J Am Soc Nephrol. 2003 Oct;14(10):2603-10. doi: 10.1097/01.asn.0000090034.71205.74. J Am Soc Nephrol. 2003. PMID: 14514738
290 results