Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. (Q30547553)

18 August 2017

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

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scapuloperoneal spinal muscular atrophy

18 August 2017

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spinal muscular atrophy

1 reference

1 reference

7

Hau-Jie Yau

1 reference

18 August 2017

Han-Xiang Deng

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Marco Martina

Marco Martina

13

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Christopher J. Klein

Christopher J Klein

2

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Teepu Siddique

Teepu Siddique

15

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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

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18 August 2017

language of work or name

English

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publication date

27 December 2009

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18 August 2017

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18 August 2017

42

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18 August 2017

2

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18 August 2017

165-169

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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

1 reference