Chavanas S - Search Results

1

A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy.

Chavanas S, Pulkkinen L, Gache Y, Smith FJ, McLean WH, Uitto J, Ortonne JP, Meneguzzi G. Chavanas S, et al. J Clin Invest. 1996 Nov 15;98(10):2196-200. doi: 10.1172/JCI119028. J Clin Invest. 1996. PMID: 8941634 Free PMC article.

2

Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy.

Gache Y, Chavanas S, Lacour JP, Wiche G, Owaribe K, Meneguzzi G, Ortonne JP. Gache Y, et al. Among authors: chavanas s. J Clin Invest. 1996 May 15;97(10):2289-98. doi: 10.1172/JCI118671. J Clin Invest. 1996. PMID: 8636409 Free PMC article.

3

A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa.

Chavanas S, Gache Y, Tadini G, Pulkkinen L, Uitto J, Ortonne JP, Meneguzzi G. Chavanas S, et al. J Invest Dermatol. 1997 Jul;109(1):74-8. doi: 10.1111/1523-1747.ep12276614. J Invest Dermatol. 1997. PMID: 9204958 Free article.

4

Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.

Chavanas S, Gache Y, Vailly J, Kanitakis J, Pulkkinen L, Uitto J, Ortonne J, Meneguzzi G. Chavanas S, et al. Hum Mol Genet. 1999 Oct;8(11):2097-105. doi: 10.1093/hmg/8.11.2097. Hum Mol Genet. 1999. PMID: 10484780

5

Reduced expression of the epithelial adhesion ligand laminin 5 in the skin causes intradermal tissue separation.

Spirito F, Chavanas S, Prost-Squarcioni C, Pulkkinen L, Fraitag S, Bodemer C, Ortonne JP, Meneguzzi G. Spirito F, et al. Among authors: chavanas s. J Biol Chem. 2001 Jun 1;276(22):18828-35. doi: 10.1074/jbc.M100381200. Epub 2001 Mar 14. J Biol Chem. 2001. PMID: 11279058 Free article.

6

Role of the bullous pemphigoid antigen 180 (BP180) in the assembly of hemidesmosomes and cell adhesion--reexpression of BP180 in generalized atrophic benign epidermolysis bullosa keratinocytes.

Borradori L, Chavanas S, Schaapveld RQ, Gagnoux-Palacios L, Calafat J, Meneguzzi G, Sonnenberg A. Borradori L, et al. Among authors: chavanas s. Exp Cell Res. 1998 Mar 15;239(2):463-76. doi: 10.1006/excr.1997.3923. Exp Cell Res. 1998. PMID: 9521865

7

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.

Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, Silverman R, Esterly NB, Spraker MK, Guelig E, de Luna ML, Williams ML, Buehler B, Siegfried EC, Van Maldergem L, Pfendner E, Bale SJ, Uitto J, Hovnanian A, Richard G. Sprecher E, et al. Among authors: chavanas s. J Invest Dermatol. 2001 Aug;117(2):179-87. doi: 10.1046/j.1523-1747.2001.01389.x. J Invest Dermatol. 2001. PMID: 11511292 Free article.

8

The peptidylarginine deiminases expressed in human epidermis differ in their substrate specificities and subcellular locations.

Méchin MC, Enji M, Nachat R, Chavanas S, Charveron M, Ishida-Yamamoto A, Serre G, Takahara H, Simon M. Méchin MC, et al. Among authors: chavanas s. Cell Mol Life Sci. 2005 Sep;62(17):1984-95. doi: 10.1007/s00018-005-5196-y. Cell Mol Life Sci. 2005. PMID: 16091842

9

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.

Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, Bonafé JL, Wilkinson J, Taïeb A, Barrandon Y, Harper JI, de Prost Y, Hovnanian A. Chavanas S, et al. Nat Genet. 2000 Jun;25(2):141-2. doi: 10.1038/75977. Nat Genet. 2000. PMID: 10835624

10

Gene polymorphism in Netherton and common atopic disease.

Walley AJ, Chavanas S, Moffatt MF, Esnouf RM, Ubhi B, Lawrence R, Wong K, Abecasis GR, Jones EY, Harper JI, Hovnanian A, Cookson WO. Walley AJ, et al. Among authors: chavanas s. Nat Genet. 2001 Oct;29(2):175-8. doi: 10.1038/ng728. Nat Genet. 2001. PMID: 11544479

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