The Tsk2/+ Mouse Fibrotic Phenotype Is Due to a Gain-of-Function Mutation in the PIIINP Segment of the Col3a1 Gene

Autor:	Garth D. Ehrlich, Susanna G. Choe, Rory A. Eutsey, Kristen B. Long, Elizabeth P. Blankenhorn, Chelsea M. Burgwin, Josh Earl, Viktor Martyanov, Carol M. Artlett, Zhenghui Li, Azad Ahmed, Sihem Sassi-Gaha, Michael L. Whitfield
Jazyk:	angličtina
Předmět:	Male Genotype Genetic Linkage Mutation Missense Dermatology Biology Gene mutation Protein Serine-Threonine Kinases medicine.disease_cause Polymorphism Single Nucleotide Biochemistry Article Extracellular matrix Mice Fibrosis medicine Missense mutation Animals Gene Molecular Biology Skin Mutation Scleroderma Systemic integumentary system Point mutation Cell Biology medicine.disease Molecular biology Peptide Fragments Mice Inbred C57BL Procollagen peptidase Disease Models Animal Collagen Type III Phenotype Female Procollagen
Zdroj:	The Journal of investigative dermatology
ISSN:	0022-202X
DOI:	10.1038/jid.2014.455
Popis:	Systemic sclerosis (SSc) is a polygenic, autoimmune disorder of unknown etiology, characterized by the excessive accumulation of extracellular matrix (ECM) proteins, vascular alterations, and autoantibodies. The tight skin (Tsk)2/+ mouse model of SSc demonstrates signs similar to SSc including tight skin and excessive deposition of dermal ECM proteins. By linkage analysis, we mapped the Tsk2 gene mutation to
Databáze:	OpenAIRE
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