Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

Winchester syndrome (WS, MIM #277950) is an extremely rare autosomal recessive skeletal dysplasia characterized by progressive joint destruction and osteolysis. To date, only one missense mutation in MMP14, encoding the membrane-bound matrix metalloprotease 14, has been reported in WS patients. Here...

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Publicado en:Hum Mol Genet
Autores principales: de Vos, Ivo J H M, Tao, Evelyn Yaqiong, Ong, Sheena Li Ming, Goggi, Julian L, Scerri, Thomas, Wilson, Gabrielle R, Low, Chernis Guai Mun, Wong, Arnette Shi Wei, Grussu, Dominic, Stegmann, Alexander P A, van Geel, Michel, Janssen, Renske, Amor, David J, Bahlo, Melanie, Dunn, Norris R, Carney, Thomas J, Lockhart, Paul J, Coull, Barry J, van Steensel, Maurice A M
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2018
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Original Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6077784/
https://ncbi.nlm.nih.gov/pubmed/29741626
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy168
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