Mutations in TRPV4 cause an inherited arthropathy of hands and feet

Mutant TRPV4-mediated Toxicity Is Linked to Increased Constitutive Function in Axonal Neuropathies

(2011) Faisal Fecto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies

(2011) C. J. Klein et al.   NEUROLOGY

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

(2011) Elena Andreucci et al.   Orphanet Journal of Rare Diseases

Increased Basal Activity Is a Key Determinant in the Severity of Human Skeletal Dysplasia Caused by TRPV4 Mutations

(2011) Stephen Loukin et al.   PLoS One

De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation

(2010) Akira Nishimura et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

DominantTRPV4mutations in nonlethal and lethal metatropic dysplasia

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

Chondroprotective role of the osmotically sensitive ion channel transient receptor potential vanilloid 4: Age- and sex-dependent progression of osteoarthritis in Trpv4-deficient mice

(2010) Andrea L. Clark et al.   ARTHRITIS AND RHEUMATISM

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

(2010) Magdalena Zimoń et al.   BRAIN

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

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

(2010) D.- H. Chen et al.   NEUROLOGY

S100A8 and S100A9 in experimental osteoarthritis

(2010) Hala Zreiqat et al.   ARTHRITIS RESEARCH & THERAPY

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

Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

(2009) Ana Belinda Campos-Xavier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional characterization of TRPV4 as an osmotically sensitive ion channel in porcine articular chondrocytes

(2009) Mimi N. Phan et al.   ARTHRITIS AND RHEUMATISM

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

N-((1S)-1- -3-hydroxypropanoyl)-1-piperazinyl]carbonyl}-3-methylbutyl)-1-benzothiophene-2-carboxamide (GSK1016790A), a Novel and Potent Transient Receptor Potential Vanilloid 4 Channel Agonist Induces Urinary Bladder Contraction and Hyperactivity: Part I

(2008) K. S. Thorneloe et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

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

(2008) Matthew J Rock et al.   NATURE GENETICS