Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation

TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients

(2012) Tae-Joon Cho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Structural and Biochemical Consequences of Disease-Causing Mutations in the Ankyrin Repeat Domain of the Human TRPV4 Channel

(2012) Hitoshi Inada et al.   BIOCHEMISTRY

The negative feedback regulation of TRPV4 Ca2+ ion channel function by its C-terminal cytoplasmic domain

(2012) Jaesun Chun et al.   CELLULAR SIGNALLING

Calcium/calmodulin-signaling supports TRPV4 activation in osteoclasts and regulates bone mass

(2012) Ritsuko Masuyama et al.   JOURNAL OF BONE AND MINERAL RESEARCH

TRPV4 axonal neuropathy spectrum disorder

(2012) Meriel McEntagart   JOURNAL OF CLINICAL NEUROSCIENCE

Elementary Ca2+ Signals Through Endothelial TRPV4 Channels Regulate Vascular Function

(2012) S. K. Sonkusare et al.   SCIENCE

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

(2011) Sheila Unger et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation of a putativeS-nitrosylation site of TRPV4 protein facilitates the channel activates

(2011) Eun Jeoung Lee et al.   Animal Cells and Systems

Heteromeric TRPV4-C1 channels contribute to store-operated Ca2+ entry in vascular endothelial cells

(2011) Xin Ma et al.   CELL CALCIUM

Cell Volume Regulation in Chondrocytes

(2011) Rebecca Lewis et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Phosphorylation on the Ser 824 residue of TRPV4 prefers to bind with F-actin than with microtubules to expand the cell surface area

(2011) Sung Hwa Shin et al.   CELLULAR SIGNALLING

TRPV4-Mediated Calcium Influx into Human Bronchial Epithelia upon Exposure to Diesel Exhaust Particles

(2011) Jinju Li et al.   ENVIRONMENTAL HEALTH PERSPECTIVES

A Single Amino Acid Residue Constitutes the Third Dimerization Domain Essential for the Assembly and Function of the Tetrameric Polycystin-2 (TRPP2) Channel

(2011) Shuang Feng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Region-Specific Changes in Transient Receptor Potential Vanilloid Channel Expression in the Vasopressin Magnocellular System in Hepatic Cirrhosis-Induced Hyponatraemia

(2011) T. P. Nedungadi et al.   JOURNAL OF NEUROENDOCRINOLOGY

Functional Expression of TRPV4 Cation Channels in Human Mast Cell Line (HMC-1)

(2011) Kyung Soo Kim et al.   KOREAN JOURNAL OF PHYSIOLOGY & PHARMACOLOGY

Mutations in TRPV4 cause an inherited arthropathy of hands and feet

(2011) Shireen R Lamandé et al.   NATURE GENETICS

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

The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family)

(2011) Stefan F. Nemec et al.   PEDIATRIC RADIOLOGY

A Comprehensive Evaluation of Potential Lung Function Associated Genes in the SpiroMeta General Population Sample

(2011) Ma'en Obeidat et al.   PLoS One

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

The modulation of TRPV4 channel activity through its Ser 824 residue phosphorylation by SGK1

(2010) Eun Jeoung Lee et al.   Animal Cells and Systems

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

(2010) Magdalena Zimoń et al.   BRAIN

TRPV4-mediated channelopathies

(2010) Pratibha Verma et al.   Channels

Wild-type and Brachyolmia-causing Mutant TRPV4 Channels Respond Directly to Stretch Force

(2010) Stephen Loukin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Forward Genetic Analysis Reveals Multiple Gating Mechanisms of TRPV4

(2010) Stephen Loukin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Channelopathies converge on TRPV4

(2010) Bernd Nilius et al.   NATURE GENETICS

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

(2010) D.- H. Chen et al.   NEUROLOGY

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

Involvement of TRPV4-NO-cGMP-PKG pathways in the development of thermal hyperalgesia following chronic compression of the dorsal root ganglion in rats

(2009) Xin-Li Ding et al.   BEHAVIOURAL BRAIN RESEARCH

Association of TRPV4 gene polymorphisms with chronic obstructive pulmonary disease

(2009) G. Zhu et al.   HUMAN MOLECULAR GENETICS

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

Expression of transient receptor potential (TRP) channels in human and murine osteoblast-like cells

(2009) Elie Abed et al.   MOLECULAR MEMBRANE 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

A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia

(2009) W. Tian et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The vanilloid transient receptor potential channel TRPV4: From structure to disease

(2009) Wouter Everaerts et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

Altered central TRPV4 expression and lipid raft association related to inappropriate vasopressin secretion in cirrhotic rats

(2008) Flávia Regina Carreño et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

TRPV4-Mediated Calcium Influx Regulates Terminal Differentiation of Osteoclasts

(2008) Ritsuko Masuyama et al.   Cell Metabolism

Vanilloid Transient Receptor Potential Cation Channels: An Overview

(2008) Bernd Nilius et al.   CURRENT PHARMACEUTICAL DESIGN

IP3sensitizes TRPV4 channel to the mechano- and osmotransducing messenger 5′-6′-epoxyeicosatrienoic acid

(2008) Jacqueline Fernandes et al.   JOURNAL OF CELL BIOLOGY

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

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