(Q34191229)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

9

R J McKinlay Gardner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

16

Ravi Savarirayan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

author name string

Elena Andreucci

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Salim Aftimos

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Melanie Alcausin

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Eric Haan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Warwick Hunter

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Peter Kannu

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Bronwyn Kerr

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

George McGillivray

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Maria G Patricelli

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

David Sillence

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Elizabeth Thompson

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Margaret Zacharin

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Andreas Zankl

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

publication date

9 June 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

Orphanet Journal of Rare Diseases

3 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

page(s)

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

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

3 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135501

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135501

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135501

Global comparative transcriptome analysis of cartilage formation in vivo

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135501

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135501

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135501

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135501

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135501

Kozlowski type spondylometaphyseal dysplasia: a case report with literature review

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135501

Heterogeneity of metatropic dysplasia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135501

Brachyolmia: radiographic and genetic evidence of heterogeneity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135501

The spondylometaphyseal dysplasias. A tentative classification

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135501

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

28 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-37

Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-37

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-37

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-37

Lethal metatropic dysplasia: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-37

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135501

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135501

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135501

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

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

3 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21658220%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

PubMed publication ID

21658220

1 reference