(Q36809645)

English

A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression.

scientific article published on 29 August 2012

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22929025%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22929025%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

based on heuristic

inferred from title

3

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Europe PubMed Central

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12 February 2020

author name string

Andrew W Dodd

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22929025%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Catherine M Syddall

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22929025%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

publication date

29 August 2012

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Europe PubMed Central

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12 February 2020

European Journal of Human Genetics

1 reference

Europe PubMed Central

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12 February 2020

21

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12 February 2020

5

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12 February 2020

517-521

1 reference

Europe PubMed Central

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12 February 2020

copyright license

Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

29 August 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

https://scigraph.springernature.com/pub.10.1038/ejhg.2012.197

0 references

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641375

29 September 2017

Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641375

29 September 2017

Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641375

29 September 2017

Hundreds of variants clustered in genomic loci and biological pathways affect human height

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641375

29 September 2017

Open access high throughput drug discovery in the public domain: a Mount Everest in the making

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641375

29 September 2017

Common and rare variants in multifactorial susceptibility to common diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641375

29 September 2017

The Yin and Yang of YY1 in the nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641375

29 September 2017

Multiple effects of GDF-5 deficiency on skeletal tissues: implications for therapeutic bioengineering

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641375

29 September 2017

Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641375

29 September 2017

Targeted disruption of mouse Yin Yang 1 transcription factor results in peri-implantation lethality.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641375

29 September 2017

Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641375

29 September 2017

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641375

29 September 2017

A human chondrodysplasia due to a mutation in a TGF-beta superfamily member

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641375

29 September 2017

A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3641375

5 September 2018

Etiopathogenesis of Osteoarthritis

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.197

21 January 2018

An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage

1 reference

https://pubmed.ncbi.nlm.nih.gov/22929025

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility

1 reference

https://pubmed.ncbi.nlm.nih.gov/22929025

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism

1 reference

https://pubmed.ncbi.nlm.nih.gov/22929025

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GDF5 deficiency in mice is associated with instability-driven joint damage, gait and subchondral bone changes

1 reference

https://pubmed.ncbi.nlm.nih.gov/22929025

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deep sequencing of GDF5 reveals the absence of rare variants at this important osteoarthritis susceptibility locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/22929025

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2012.197

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22929025%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22929025%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22929025%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

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