TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. (Q34191229)

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3 February 2020

title

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families (English)

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15

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9

R J McKinlay Gardner

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16

Ravi Savarirayan

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author name string

Elena Andreucci

1

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Salim Aftimos

2

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Melanie Alcausin

3

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Eric Haan

4

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Warwick Hunter

5

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Peter Kannu

6

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Bronwyn Kerr

7

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George McGillivray

8

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Maria G Patricelli

10

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David Sillence

11

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Elizabeth Thompson

12

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Margaret Zacharin

13

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Andreas Zankl

14

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publication date

9 June 2011

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Orphanet Journal of Rare Diseases

3 February 2020

published in

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volume

6

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page(s)

37

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https://scigraph.springernature.com/pub.10.1186/1750-1172-6-37

3 February 2020

exact match

0 references

cites work

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

1 reference

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

28 July 2018

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Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

28 July 2018

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Global comparative transcriptome analysis of cartilage formation in vivo

28 July 2018

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

28 July 2018

1 reference

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

28 July 2018

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

28 July 2018

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

28 July 2018

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Kozlowski type spondylometaphyseal dysplasia: a case report with literature review

28 July 2018

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Heterogeneity of metatropic dysplasia

28 July 2018

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Brachyolmia: radiographic and genetic evidence of heterogeneity

28 July 2018

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The spondylometaphyseal dysplasias. A tentative classification

28 July 2018

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

28 July 2018

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Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.

21 January 2018

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

21 January 2018

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Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

21 January 2018

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Lethal metatropic dysplasia: a case report

21 January 2018

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Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

21 January 2018

1 reference

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Cell swelling, heat, and chemical agonists use distinct pathways for the activation of the cation channel TRPV4.

28 October 2018

1 reference

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

28 October 2018

1 reference

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Brachyolmia: an autosomal dominant form

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21658220

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Nosology and classification of genetic skeletal disorders: 2006 revision

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21658220

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Spondylometaphyseal dysplasia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21658220

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-6-37

1 reference

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Dimensions Publication ID

3 February 2020

0 references

1 reference

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3 February 2020

1 reference