Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

TRPV4-pathy, a novel channelopathy affecting diverse systems.

Journal of human genetics - 1 Jul 2010

Dai Jin, Cho Tae-Joon, Unger Sheila, Lausch Ekkehart, Nishimura Gen, Kim Ok-Hwa, Superti-Furga Andrea, Ikegawa Shiro

Abstract excerpt

Transient receptor potential cation channel, subfamily V, member 4 (TRPV4) is a calcium-permeable nonselective cation channel of unknown biological function. TRPV4 mutation was first identified in brachyolmia, and then in a spectrum of autosomal-dominant skeletal dysplasias, which includes Kozlowski type of spondylometaphyseal dysplasia, metatropic dysplasia, Maroteaux type of spondyloepiphyseal dysplasia and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Channelopathies
Share to Disease
Share to TRPV4 gene

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Phenotype

Share to Protein Binding

Share to TRPV Cation Channels

Source

Identifiers

PMID: 20505684
DOI: 10.1038/jhg.2010.37

Genes

TRPV4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

TRPV4-pathy, a novel channelopathy affecting diverse systems.PMID 20505684Read ↗

Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.Semantic proximity Read ↗

TRPV4-associated skeletal dysplasias.Semantic proximity Read ↗

Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.Semantic proximity Read ↗

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.Semantic proximity Read ↗

The puzzle of TRPV4 channelopathies.Semantic proximity Read ↗

Novel TRPV4 mutation in a large Chinese family with congenital distal spinal muscular atrophy, skeletal dysplasia and scaly skin.Semantic proximity Read ↗

Role of TRPV4 in skeletal function and its mutant-mediated skeletal disorders.Semantic proximity Read ↗

TRPV4 axonal neuropathy spectrum disorder.Semantic proximity Read ↗

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.Semantic proximity Read ↗

Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.Semantic proximity Read ↗

Roles for TRPV4 in disease: A discussion of possible mechanisms.Semantic proximity Read ↗

Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4-Related Dysplasia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.