(Q34949511)

English

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

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scholarly article

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Europe PubMed Central

PubMed publication ID

5 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

spondylometaphyseal dysplasia, Kozlowski type

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object named as

Ingrid A Holm

9

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object named as

Joris Vriens

2

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object named as

Thomas Voets

13

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object named as

Bernd Nilius

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

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object named as

David L Rimoin

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Ralph S. Lachman

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object named as

Ralph S Lachman

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Europe PubMed Central

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5 August 2017

Carlos A Bacino

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object named as

Carlos A Bacino

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Europe PubMed Central

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5 August 2017

author name string

Deborah Krakow

1

1 reference

Europe PubMed Central

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5 August 2017

Natalia Camacho

3

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5 August 2017

Phi Luong

4

1 reference

Europe PubMed Central

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5 August 2017

Hannah Deixler

5

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Europe PubMed Central

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5 August 2017

Tara L Funari

6

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Europe PubMed Central

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5 August 2017

Mira B Irons

8

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Europe PubMed Central

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5 August 2017

Laurie Sadler

10

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Europe PubMed Central

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5 August 2017

Ericka B Okenfuss

11

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5 August 2017

Annelies Janssens

12

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5 August 2017

Daniel H Cohn

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5 August 2017

language of work or name

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publication date

19 February 2009

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5 August 2017

American Journal of Human Genetics

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5 August 2017

84

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5 August 2017

3

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5 August 2017

307-315

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5 August 2017

Multiple unbiased prospective screens identify TRP channels and their conserved gating elements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

8 July 2018

TRPs in our senses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

8 July 2018

TRP channels entering the structural era.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

8 July 2018

A primer on ankyrin repeat function in TRP channels and beyond

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

8 July 2018

Dependence of regulatory volume decrease on transient receptor potential vanilloid 4 (TRPV4) expression in human corneal epithelial cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

8 July 2018

Interplay between TRP channels and the cytoskeleton in health and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

8 July 2018

Transient receptor potential cation channels in disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

8 July 2018

Kozlowski type spondylometaphyseal dysplasia: a case report with literature review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

8 July 2018

Cervical spinal stenosis in metatropic dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

8 July 2018

TRP channels: an overview

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

8 July 2018

TRPV4 exhibits a functional role in cell-volume regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

8 July 2018

Heterogeneity of metatropic dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

8 July 2018

The spondylometaphyseal dysplasias. A tentative classification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

8 July 2018

TRPV4-mediated calcium influx regulates terminal differentiation of osteoclasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

26 October 2018

Transient receptor potential (TRP) cation channels: rewarding unique proteins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

26 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

26 October 2018

Transient receptor potential channels in mechanosensing and cell volume regulation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

26 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

26 October 2018

Detecting polymorphisms and mutations in candidate genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

26 October 2018

Spondylo-Metaphyseal Dysplasia. (Report of 7 cases and essay of classification).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667978

26 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19232556

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Metatrophic dwarfism]

1 reference

https://pubmed.ncbi.nlm.nih.gov/19232556

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Odontoid hypoplasia with vertebral cervical subluxation and ventriculomegaly in metatropic dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19232556

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brachyolmia: an autosomal dominant form

1 reference

https://pubmed.ncbi.nlm.nih.gov/19232556

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2009.01.021

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

ResearchGate publication ID

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