(Q41859694)

English

A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis

scientific article published on 22 July 2005

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

0 references

A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis (English)

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

1 reference

based on heuristic

inferred from title

Rajkumar Ramesar

2

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

author name string

Lindsay Gleghorn

1

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

Peter Beighton

3

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

Gillian Wallis

4

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

language of work or name

0 references

publication date

22 July 2005

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

77

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

3

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

484-490

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226213

5 June 2018

Aberrant mobility phenomena of the DNA repair protein XPA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226213

5 June 2018

Role of the C-terminal G3 domain in sorting and secretion of aggrecan core protein and ubiquitin-mediated degradation of accumulated mutant precursors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226213

5 June 2018

Completion of the mouse aggrecan gene structure and identification of the defect in the cmd-Bc mouse as a near complete deletion of the murine aggrecan gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226213

5 June 2018

Dwarfism and age-associated spinal degeneration of heterozygote cmd mice defective in aggrecan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226213

5 June 2018

A human-specific polymorphism in the coding region of the aggrecan gene. Variable number of tandem repeats produce a range of core protein sizes in the general population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226213

5 June 2018

cDNA cloning of chick cartilage chondroitin sulfate (aggrecan) core protein and identification of a stop codon in the aggrecan gene associated with the chondrodystrophy, nanomelia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226213

5 June 2018

Structure of the human aggrecan gene: exon-intron organization and association with the protein domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226213

5 June 2018

Chondrocytes from the cartilage proteoglycan-deficient mutant, nanomelia, synthesize greatly reduced levels of the proteoglycan core protein transcript

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226213

5 June 2018

Complete coding sequence and deduced primary structure of the human cartilage large aggregating proteoglycan, aggrecan. Human-specific repeats, and additional alternatively spliced forms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226213

5 June 2018

Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226213

18 August 2018

Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226213

18 August 2018

Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/16080123

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nanomelic chondrocytes synthesize, but fail to translocate, a truncated aggrecan precursor

1 reference

https://pubmed.ncbi.nlm.nih.gov/16080123

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NANOMELIA, A LETHAL NUTATION OF THE FOWL

1 reference

https://pubmed.ncbi.nlm.nih.gov/16080123

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

1 reference

Europe PubMed Central

PMC publication ID

13 October 2017

ResearchGate publication ID

0 references

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