Citations for
1BCYM3, CBSMA, CMT2C, METTD, SMDK, SPSMA, TRPV4
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S.
J Med Genet 47(10):704-9. Epub 2010 Jun 24.PMID: 20577006 2010
2BCYM3, TRPV4
Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force.
Loukin S, Zhou X, Su Z, Saimi Y, Kung C.
J Biol Chem 285(35):27176-81. Epub 2010 Jul 6.PMID: 20605796 2010
3BCYM3, TRPV4
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH.
Nat Genet 40(8):999-1003. Epub 2008 Jun 29. 2008