(Q51909616)

17 April 2018

title

Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. (English)

1 reference

17 April 2018

7

Bernd Nilius

1 reference

17 April 2018

Natalia Camacho

1

1 reference

17 April 2018

Deborah Krakow

2

1 reference

17 April 2018

Sharlin Johnykutty

3

1 reference

17 April 2018

Philip J Katzman

4

1 reference

17 April 2018

Samuel Pepkowitz

5

1 reference

17 April 2018

Joris Vriens

6

1 reference

17 April 2018

Brendan F Boyce

8

1 reference

17 April 2018

Daniel H Cohn

9

1 reference

17 April 2018

language of work or name

English

0 references

publication date

1 May 2010

1 reference

17 April 2018

American Journal of Medical Genetics

published in

1 reference

17 April 2018

volume

152A

1 reference

17 April 2018

issue

5

1 reference

17 April 2018

page(s)

1169-1177

1 reference

17 April 2018

Genetic control of bone formation

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

Hypotonic shocks activate rat TRPV4 in yeast in the absence of polyunsaturated fatty acids.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

Interplay between TRP channels and the cytoskeleton in health and disease

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

Marked attenuation of inflammatory mediator-induced C-fiber sensitization for mechanical and hypotonic stimuli in TRPV4-/- mice

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

S100A1 and S100B, transcriptional targets of SOX trio, inhibit terminal differentiation of chondrocytes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

Cervical spinal stenosis in metatropic dysplasia

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

The combination of SOX5, SOX6, and SOX9 (the SOX trio) provides signals sufficient for induction of permanent cartilage

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

Interactions between Sox9 and beta-catenin control chondrocyte differentiation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

Regulation of a transient receptor potential (TRP) channel by tyrosine phosphorylation. SRC family kinase-dependent tyrosine phosphorylation of TRPV4 on TYR-253 mediates its response to hypotonic stress

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

Regulation of human COL9A1 gene expression. Activation of the proximal promoter region by SOX9

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha1(II) collagen gene

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

Heterogeneity of metatropic dysplasia

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

TRPV4-mediated calcium influx regulates terminal differentiation of osteoclasts

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

Modulation of the Ca2 permeable cation channel TRPV4 by cytochrome P450 epoxygenases in vascular endothelium.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

Chondrocyte-specific enhancer elements in the Col11a2 gene resemble the Col2a1 tissue-specific enhancer

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169191

13 August 2018

[Metatrophic dwarfism]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20425821

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literature

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20425821

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.33392

1 reference

17 April 2018

PMC publication ID

4169191

1 reference

17 April 2018

PubMed publication ID

20425821

1 reference

17 April 2018