(Q24517907)

English

Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia

scientific article

In more languages

Statements

scholarly article

0 references

Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia (English)

0 references

author name string

G A Wallis

1

0 references

B Rash

2

0 references

B Sykes

3

0 references

J Bonaventure

4

0 references

P Maroteaux

5

0 references

B Zabel

6

0 references

R Wynne-Davies

7

0 references

M E Grant

8

0 references

R P Boot-Handford

9

0 references

language of work or name

0 references

publication date

June 1996

0 references

Journal of Medical Genetics

0 references

33

0 references

6

0 references

450-7

0 references

Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

19 March 2017

The Patterson syndrome, leprechaunism, and pseudoleprechaunism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

19 March 2017

A system for shotgun DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

19 March 2017

The human collagen X gene. Complete primary translated sequence and chromosomal localization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

19 March 2017

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

19 March 2017

Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

19 March 2017

Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

19 March 2017

Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

19 March 2017

Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

19 March 2017

Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

19 March 2017

Cloning of human alpha 1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

19 March 2017

The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

19 March 2017

Genomic organization and full-length cDNA sequence of human collagen X

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

19 March 2017

Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

27 September 2017

Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

27 September 2017

Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

27 September 2017

SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

27 September 2017

Isolation of bovine type X collagen and immunolocalization in growth-plate cartilage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

30 May 2018

The spondylometaphyseal dysplasias. A tentative classification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

30 May 2018

Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

30 May 2018

Distribution of type X collagen mRNA in normal and osteoarthritic human cartilage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

30 May 2018

The fibrillar collagens, collagen VIII, collagen X and the C1q complement proteins share a similar domain in their C-terminal non-collagenous regions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

30 May 2018

Localization of collagen X in human fetal and juvenile articular cartilage and bone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050629

30 May 2018

A short chain (pro)collagen from aged endochondral chondrocytes. Biochemical characterization

1 reference

https://pubmed.ncbi.nlm.nih.gov/8782043

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type X collagen synthesis during endochondral ossification in fracture repair

1 reference

https://pubmed.ncbi.nlm.nih.gov/8782043

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition

1 reference

https://pubmed.ncbi.nlm.nih.gov/8782043

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Seven polymorphisms at the COL10A1 locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/8782043

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Normal long bone growth and development in type X collagen-null mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/8782043

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II

1 reference

https://api.crossref.org/works/10.1136%2FJMG.33.6.450

7 January 2021

based on heuristic

inferred from DOI database lookup

Type X collagen, a product of hypertrophic chondrocytes

1 reference

https://api.crossref.org/works/10.1136%2FJMG.33.6.450

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1136/JMG.33.6.450

0 references

0 references

0 references

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q24517907&oldid=1475449273"