Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Channelopathies converge on TRPV4

(2010) Bernd Nilius et al.   NATURE GENETICS

Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

(2009) Deborah Krakow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

(2009) K. G. Claeys et al.   BRAIN

Differential Regulation of TRPV1, TRPV3, and TRPV4 Sensitivity through a Conserved Binding Site on the Ankyrin Repeat Domain

(2009) Christopher B. Phelps et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

(2009) Michaela Auer-Grumbach et al.   NATURE GENETICS

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

(2009) Han-Xiang Deng et al.   NATURE GENETICS

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

(2009) Guida Landouré et al.   NATURE GENETICS

Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24

(2009) R. Schule et al.   NEUROLOGY

Stimulus-specific Modulation of the Cation Channel TRPV4 by PACSIN 3

(2008) Dieter D'hoedt et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A primer on ankyrin repeat function in TRP channels and beyond

(2008) Rachelle Gaudet   Molecular BioSystems

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

(2008) Matthew J Rock et al.   NATURE GENETICS