Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Wendy E. Kutz"'
Autor:
Shweta Singh, Wendy E. Kutz, Lauren W. Wang, Dieter P. Reinhardt, Michael W. Jenkins, Timothy J. Mead, Lauren C. Beene, Suneel S. Apte
Publikováno v:
Matrix Biol
Mutations in the secreted metalloproteinase ADAMTS10 cause recessive Weill-Marchesani syndrome (WMS), comprising ectopia lentis, short stature, brachydactyly, thick skin and cardiac valve anomalies. Dominant WMS caused by FBN1 mutations is clinically
Publikováno v:
Journal of Cell Communication and Signaling
Loss-of-function mutations in the gene WISP3 cause the autosomal recessive human skeletal disease Progressive Pseudorheumatoid Dysplasia, whereas mice with knockout mutations of Wisp3 have no phenotype. The lack of a phenotype in the Wisp3 knockout m
Publikováno v:
Molecular and Cellular Biology. 25:414-421
In humans, loss-of-function mutations in WISP3 cause the autosomal recessive skeletal disease progressive pseudorheumatoid dysplasia (PPD) (Online Mendelian Inheritance in Man database number 208230). WISP3 encodes Wnt1-inducible signaling protein 3,
Autor:
Suneel S. Apte, Elias I. Traboulsi, Hannah L. Bader, Wendy E. Kutz, Douglas R. Keene, Lauren W. Wang, Lynn Y. Sakai, Alana K. Majors, Kazushi Iwata
Publikováno v:
The Journal of biological chemistry. 286(19)
Autosomal recessive and autosomal dominant forms of Weill-Marchesani syndrome, an inherited connective tissue disorder, are caused by mutations in ADAMTS10 (encoding a secreted metalloprotease) and FBN1 (encoding fibrillin-1, which forms tissue micro
Autor:
Valérie Cormier-Daire, Lauren W. Wang, Suneel S. Apte, Wendy E. Kutz, Elias I. Traboulsi, Nathalie Dagoneau, Kazimir J. Odrcic
Publikováno v:
Human mutation. 29(12)
We report the identification and functional analysis of the first missense ADAMTS10 mutation (c.73G>A; p.Ala25Thr) causing recessive Weill-Marchesani syndrome (WMS). The Ala25 residue affected by the missense mutation is at the −1 position relative