Mutations in TRPV4 cause an inherited arthropathy of hands and feet-Reference-Cited by-同舟云学术

Mutations in TRPV4 cause an inherited arthropathy of hands and feet

Published:2011-10-02 Issue:11 Volume:43 Page:1142-1146
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Lamandé Shireen R,Yuan Yuan,Gresshoff Irma L,Rowley Lynn,Belluoccio Daniele,Kaluarachchi Kumara,Little Christopher B,Botzenhart Elke,Zerres Klaus,Amor David J,Cole William G,Savarirayan Ravi,McIntyre Peter,Bateman John F

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.945.pdf

Reference33 articles.

1. Amor, D.J. et al. Familial digital arthropathy-brachydactyly. Am. J. Med. Genet. 108, 235–240 (2002).

2. Camacho, N. et al. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am. J. Med. Genet. A. 152A, 1169–1177 (2010).

3. Rock, M.J. et al. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat. Genet. 40, 999–1003 (2008).

4. Krakow, D. et al. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am. J. Hum. Genet. 84, 307–315 (2009).

5. Deng, H.X. et al. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat. Genet. 42, 165–169 (2009).

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