Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

@article{Rock2008GainoffunctionMI,
  title={Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia},
  author={Matthew James Rock and Jean Prenen and Vincent Anthony Funari and Tara L Funari and Barry Merriman and Stanley F. Nelson and Ralph S. Lachman and William R. Wilcox and S Reyno and Roberto Quadrelli and Alicia Vaglio and Grzegorz Owsianik and Annelies Janssens and Thomas Voets and Shiro Ikegawa and Toshiro Nagai and David L. Rimoin and Bernd Nilius and Daniel H Cohn},
  journal={Nature Genetics},
  year={2008},
  volume={40},
  pages={999-1003}
}
The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosis and mild short stature. Here, we identify a locus for an autosomal dominant form of brachyolmia on chromosome 12q24.1–12q24.2. Among the genes in the genetic interval, we selected TRPV4, which encodes a calcium permeable cation channel of the transient receptor potential (TRP) vanilloid family, as a candidate gene because of its cartilage-selective gene… 

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