TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

DominantTRPV4mutations in nonlethal and lethal metatropic dysplasia

(2010) Natalia Camacho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

(2010) J. Dai et al.   JOURNAL OF MEDICAL 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

Global comparative transcriptome analysis of cartilage formation in vivo

(2009) Trevor L Cameron et al.   BMC DEVELOPMENTAL BIOLOGY

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

Transient receptor potential vanilloid 4 deficiency suppresses unloading-induced bone loss

(2008) Fumitaka Mizoguchi et al.   JOURNAL OF CELLULAR PHYSIOLOGY

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

(2008) Matthew J Rock et al.   NATURE GENETICS