(Q30547553)

18 August 2017

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. (English)

1 reference

scapuloperoneal spinal muscular atrophy

18 August 2017

0 references

spinal muscular atrophy

1 reference

1 reference

7

Hau-Jie Yau

1 reference

18 August 2017

Han-Xiang Deng

0 references

Marco Martina

Marco Martina

13

0 references

Christopher J. Klein

Christopher J Klein

2

0 references

Teepu Siddique

Teepu Siddique

15

0 references

E. Tessa Hedley-Whyte

11

E Tessa Hedley-Whyte

1 reference

18 August 2017

Jianhua Yan

3

1 reference

18 August 2017

Yong Shi

4

1 reference

18 August 2017

Yanhong Wu

5

1 reference

18 August 2017

Faisal Fecto

6

1 reference

18 August 2017

Yi Yang

8

1 reference

18 August 2017

Hong Zhai

9

1 reference

18 August 2017

Nailah Siddique

10

1 reference

18 August 2017

Robert Delong

12

1 reference

18 August 2017

Peter J Dyck

14

1 reference

18 August 2017

language of work or name

English

0 references

publication date

27 December 2009

1 reference

18 August 2017

1 reference

18 August 2017

42

1 reference

18 August 2017

2

1 reference

18 August 2017

165-169

1 reference

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

Molecular mechanisms of TRPV4-mediated neural signaling

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

Structural Analyses of the Ankyrin Repeat Domain of TRPV6 and Related TRPV Ion Channels † , ‡

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

Stimulus-specific modulation of the cation channel TRPV4 by PACSIN 3

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

Transient receptor potential cation channels in disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

The HECT ubiquitin ligase AIP4 regulates the cell surface expression of select TRP channels

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

A role for AQP5 in activation of TRPV4 by hypotonicity: concerted involvement of AQP5 and TRPV4 in regulation of cell volume recovery.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

Transient receptor potential vanilloid 4 regulates aquaporin-5 abundance under hypotonic conditions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

WNK kinases influence TRPV4 channel function and localization

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and trafficking

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

TRP channels: an overview

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

Abnormal osmotic regulation in trpv4 -/- mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

Trp12, a novel Trp related protein from kidney

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

A new generation of Ca2+ indicators with greatly improved fluorescence properties

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

Impaired Pressure Sensation in Mice Lacking TRPV4

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

Structure of the N-terminal Ankyrin Repeat Domain of the TRPV2 Ion Channel

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786192

OS-9 regulates the transit and polyubiquitination of TRPV4 in the endoplasmic reticulum

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20037587

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20037587

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.509

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

20037587

1 reference