(Q34790129)

4 August 2017

title

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia (English)

1 reference

4 August 2017

Thomas Voets

14

0 references

Bernd Nilius

18

object named as

Bernd Nilius

1 reference

4 August 2017

12

Grzegorz Owsianik

1 reference

4 August 2017

2

Jean Prenen

1 reference

4 August 2017

17

David L Rimoin

1 reference

4 August 2017

7

Ralph S Lachman

1 reference

4 August 2017

6

Stanley F Nelson

1 reference

4 August 2017

Matthew J Rock

1

1 reference

4 August 2017

Vincent A Funari

3

1 reference

4 August 2017

Tara L Funari

4

1 reference

4 August 2017

Barry Merriman

5

1 reference

4 August 2017

William R Wilcox

8

1 reference

4 August 2017

Soraya Reyno

9

1 reference

4 August 2017

Roberto Quadrelli

10

1 reference

4 August 2017

Alicia Vaglio

11

1 reference

4 August 2017

Annelies Janssens

13

1 reference

4 August 2017

Shiro Ikegawa

15

1 reference

4 August 2017

Toshiro Nagai

16

1 reference

4 August 2017

Daniel H Cohn

19

1 reference

4 August 2017

language of work or name

English

0 references

publication date

29 June 2008

1 reference

4 August 2017

1 reference

4 August 2017

volume

40

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4 August 2017

issue

8

1 reference

4 August 2017

page(s)

999-1003

1 reference

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

4 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Functional gene screening system identified TRPV4 as a regulator of chondrogenic differentiation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Determinants of 4 alpha-phorbol sensitivity in transmembrane domains 3 and 4 of the cation channel TRPV4.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Transient receptor potential cation channels in disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Cilia-like structures and polycystin-1 in osteoblasts/osteocytes and associated abnormalities in skeletogenesis and Runx2 expression.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

The versatile nature of the calcium-permeable cation channel TRPP2

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

TRP channels: an overview

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

TRPV4 exhibits a functional role in cell-volume regulation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Cyclic GMP-dependent protein kinase II is a molecular switch from proliferation to hypertrophic differentiation of chondrocytes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

TRPV4 calcium entry channel: a paradigm for gating diversity.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Genetic disorders of the skeleton: a developmental approach

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

The TRPV4 channel: structure-function relationship and promiscuous gating behaviour.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Molecular-pathogenetic classification of genetic disorders of the skeleton

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Activation of TRPV4 channels (hVRL-2/mTRP12) by phorbol derivatives

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Differential activation of the volume-sensitive cation channel TRP12 (OTRPC4) and volume-regulated anion currents in HEK-293 cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Brachyolmia: radiographic and genetic evidence of heterogeneity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Proceedings: Pure spondyloepiphyseal dysplasia or brachyolmia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: A possible error of chondroitin-6-sulfate synthesis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Anandamide and arachidonic acid use epoxyeicosatrienoic acids to activate TRPV4 channels

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Modulation of TRPV4 gating by intra- and extracellular Ca2+.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Impaired Pressure Sensation in Mice Lacking TRPV4

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Mechanism of longitudinal bone growth and its regulation by growth plate chondrocytes

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525077

Brachyolmia: an autosomal dominant form

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18587396

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18587396

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.166

1 reference

4 August 2017

1 reference

4 August 2017

1 reference