A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.

Claus, Stephanie; Fischer, Judith; Mégarbané, Hala; Mégarbané, André; Jobard, Florence; Debret, Romain; Peyrol, Simone; Saker, Safa; Devillers, Martine; Sommer, Pascal; Damour, Odile

Claus, Stephanie; Fischer, Judith; Mégarbané, Hala; Mégarbané, André; Jobard, Florence; Debret, Romain; Peyrol, Simone; Saker, Safa; Devillers, Martine; Sommer, Pascal; Damour, Odile.

Affiliation

Claus S; Institut de Biologie et de Chimie des Protéines, Centre National de la Recherche Scientifique, Université Lyon 1, Institut Fédératif de Recherches 128, Lyon, France.

J Invest Dermatol ; 128(6): 1442-50, 2008 Jun.

Article in En | MEDLINE | ID: mdl-18185537

Subject(s)

Cutis Laxa/genetics; Extracellular Matrix Proteins/genetics; Extracellular Matrix/metabolism; Mutation; Skin/pathology; Basement Membrane/metabolism; Collagen Type VII/metabolism; Cutis Laxa/pathology; DNA Mutational Analysis; Female; Fibroblasts/metabolism; Homozygote; Humans; Male; Models, Biological; Mutation, Missense

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Skin / Extracellular Matrix Proteins / Cutis Laxa / Extracellular Matrix / Mutation Type of study: Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: J Invest Dermatol Year: 2008 Document type: Article Affiliation country: France

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