Antignac C - Search Results

1

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.

Gee HY, Saisawat P, Ashraf S, Hurd TW, Vega-Warner V, Fang H, Beck BB, Gribouval O, Zhou W, Diaz KA, Natarajan S, Wiggins RC, Lovric S, Chernin G, Schoeb DS, Ovunc B, Frishberg Y, Soliman NA, Fathy HM, Goebel H, Hoefele J, Weber LT, Innis JW, Faul C, Han Z, Washburn J, Antignac C, Levy S, Otto EA, Hildebrandt F. Gee HY, et al. Among authors: antignac c. J Clin Invest. 2013 Aug;123(8):3243-53. doi: 10.1172/JCI69134. Epub 2013 Jul 8. J Clin Invest. 2013. PMID: 23867502 Free PMC article.

2

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.

Fuchshuber A, Jean G, Gribouval O, Gubler MC, Broyer M, Beckmann JS, Niaudet P, Antignac C. Fuchshuber A, et al. Among authors: antignac c. Hum Mol Genet. 1995 Nov;4(11):2155-8. doi: 10.1093/hmg/4.11.2155. Hum Mol Genet. 1995. PMID: 8589695

3

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.

Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F. Otto EA, et al. Among authors: antignac c. Nat Genet. 2003 Aug;34(4):413-20. doi: 10.1038/ng1217. Nat Genet. 2003. PMID: 12872123 Free PMC article.

4

Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.

Roselli S, Moutkine I, Gribouval O, Benmerah A, Antignac C. Roselli S, et al. Among authors: antignac c. Traffic. 2004 Jan;5(1):37-44. doi: 10.1046/j.1600-0854.2003.00148.x. Traffic. 2004. PMID: 14675423 Free article.

5

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

Weber S, Gribouval O, Esquivel EL, Morinière V, Tête MJ, Legendre C, Niaudet P, Antignac C. Weber S, et al. Among authors: antignac c. Kidney Int. 2004 Aug;66(2):571-9. doi: 10.1111/j.1523-1755.2004.00776.x. Kidney Int. 2004. PMID: 15253708 Free article.

6

In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation.

Zhang SY, Marlier A, Gribouval O, Gilbert T, Heidet L, Antignac C, Gubler MC. Zhang SY, et al. Among authors: antignac c. Kidney Int. 2004 Sep;66(3):945-54. doi: 10.1111/j.1523-1755.2004.00840.x. Kidney Int. 2004. PMID: 15327385 Free article.

7

A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome.

Ozer EA, Aksu N, Erdogan H, Yavascan O, Kara O, Gribouval O, Gubler MC, Antignac C. Ozer EA, et al. Among authors: antignac c. Nephrology (Carlton). 2004 Oct;9(5):310-2. doi: 10.1111/j.1440-1797.2004.00324.x. Nephrology (Carlton). 2004. PMID: 15504144

8

[Mutations in genes in the renin-angiotensin system and renal tubular dysgenesis].

Gribouval O, Antignac C, Gubler MC. Gribouval O, et al. Among authors: antignac c. Med Sci (Paris). 2006 Mar;22(3):246-8. doi: 10.1051/medsci/2006223246. Med Sci (Paris). 2006. PMID: 16527202 Free article. French. No abstract available.

9

Evidence of oligogenic inheritance in nephronophthisis.

Hoefele J, Wolf MT, O'Toole JF, Otto EA, Schultheiss U, Dêschenes G, Attanasio M, Utsch B, Antignac C, Hildebrandt F. Hoefele J, et al. Among authors: antignac c. J Am Soc Nephrol. 2007 Oct;18(10):2789-95. doi: 10.1681/ASN.2007020243. Epub 2007 Sep 12. J Am Soc Nephrol. 2007. PMID: 17855640

10

Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).

Gbadegesin R, Hinkes BG, Hoskins BE, Vlangos CN, Heeringa SF, Liu J, Loirat C, Ozaltin F, Hashmi S, Ulmer F, Cleper R, Ettenger R, Antignac C, Wiggins RC, Zenker M, Hildebrandt F. Gbadegesin R, et al. Among authors: antignac c. Nephrol Dial Transplant. 2008 Apr;23(4):1291-7. doi: 10.1093/ndt/gfm759. Epub 2007 Dec 8. Nephrol Dial Transplant. 2008. PMID: 18065803

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