(Q37156164)

18 August 2017

A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan (English)

1 reference

spondyloepimetaphyseal dysplasia, aggrecan type

18 August 2017

1 reference

Maryline Fresquet

4

0 references

Stuart W Tompson

object named as

Stuart W Tompson

1

0 references

David Rimoin

6

object named as

David L Rimoin

1 reference

18 August 2017

5

Ralph S Lachman

1 reference

18 August 2017

7

Stanley F Nelson

1 reference

18 August 2017

Barry Merriman

2

1 reference

18 August 2017

Vincent A Funari

3

1 reference

18 August 2017

Michael D Briggs

8

1 reference

18 August 2017

Daniel H Cohn

9

1 reference

18 August 2017

Deborah Krakow

10

1 reference

18 August 2017

language of work or name

English

0 references

publication date

24 December 2008

1 reference

American Journal of Human Genetics

18 August 2017

1 reference

18 August 2017

84

1 reference

18 August 2017

1

1 reference

18 August 2017

72-79

1 reference

Genome-wide association analysis identifies 20 loci that influence adult height

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668039

Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668039

Structural basis for interactions between tenascins and lectican C-type lectin domains: evidence for a crosslinking role for tenascins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668039

The Draft Genome of Ciona intestinalis: Insights into Chordate and Vertebrate Origins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668039

The amino-terminal part of PRELP binds to heparin and heparan sulfate

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668039

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668039

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668039

A rare lethal bone dysplasia with recessive autosomic transmission

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668039

Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668039

Alternative splicing in the aggrecan G3 domain influences binding interactions with tenascin-C and other extracellular matrix proteins

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668039

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668039

NANOMELIA, A LETHAL NUTATION OF THE FOWL

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19110214

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/19110214

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2008.12.001

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

19110214

1 reference