Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia (Q34388150)

1 August 2017

title

Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia (English)

1 reference

1 August 2017

Ikegawa S

1

1 reference

1 August 2017

Nishimura G

2

1 reference

1 August 2017

Nagai T

3

1 reference

1 August 2017

Hasegawa T

4

1 reference

1 August 2017

Ohashi H

5

1 reference

1 August 2017

Nakamura Y

6

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 December 1998

1 reference

American Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

63

1 reference

1 August 2017

issue

6

1 reference

1 August 2017

page(s)

1659-1662

1 reference

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377637

Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377637

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377637

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377637

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377637

The type II collagenopathies: a spectrum of chondrodysplasias

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377637

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377637

Immunohistochemical localization of short chain cartilage collagen (type X) in avian tissues

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377637

The spondylometaphyseal dysplasias. A tentative classification

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377637

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377637

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377637

Isolation of human type X collagen and immunolocalization in fetal human cartilage

6 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9837818

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9837818

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Japanese type of spondylo-metaphyseal dysplasia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9837818

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302158

1 reference

1 August 2017

1 reference

1 August 2017

1 reference