(Q33784173)

English

A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calvé-Perthes disease or avascular necrosis of the femoral head

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calvé-Perthes disease or avascular necrosis of the femoral head (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

author name string

Na Li

1

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Jian Yu

2

1 reference

Europe PubMed Central

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29 July 2017

Xiang Cao

3

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Qiu-Yue Wu

4

1 reference

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PubMed publication ID

29 July 2017

Wei-Wei Li

5

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Tian-Fu Li

6

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Cui Zhang

7

1 reference

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PubMed publication ID

29 July 2017

Ying-Xia Cui

8

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Xiao-Jun Li

9

1 reference

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PubMed publication ID

29 July 2017

Zhi-Min Yin

10

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29 July 2017

Xin-Yi Xia

11

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29 July 2017

language of work or name

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publication date

20 June 2014

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29 July 2017

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Europe PubMed Central

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29 July 2017

9

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29 July 2017

6

1 reference

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29 July 2017

e100505

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

copyright license

Creative Commons Attribution 4.0 International

20 June 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

The collagenopathies: review of clinical phenotypes and molecular correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065060

28 July 2018

Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065060

28 July 2018

The heterozygous disproportionate micromelia (dmm) mouse: morphological changes in fetal cartilage precede postnatal dwarfism and compared with lethal homozygotes can explain the mild phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065060

28 July 2018

Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065060

28 July 2018

Avascular necrosis of the femoral head: vascular hypotheses.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065060

28 July 2018

Collagens—structure, function, and biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065060

28 July 2018

Collagen of articular cartilage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065060

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065060

28 July 2018

An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065060

28 July 2018

Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065060

28 July 2018

Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065060

28 July 2018

Expression of the mouse alpha 1(II) collagen gene is not restricted to cartilage during development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065060

28 July 2018

Procollagen folding and assembly: the role of endoplasmic reticulum enzymes and molecular chaperones

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100505

21 January 2018

Nosology and classification of genetic skeletal disorders: 2010 revision.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100505

21 January 2018

Type II collagen gene variants and inherited osteonecrosis of the femoral head

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100505

21 January 2018

A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100505

21 January 2018

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100505

21 January 2018

The phenotypic spectrum of COL2A1 mutations

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100505

21 January 2018

R992C (p.R1192C) Substitution in collagen II alters the structure of mutant molecules and induces the unfolded protein response

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100505

21 January 2018

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0100505

21 January 2018

A mutation of the Col2a1 gene (G1170S) alters the transgenic murine phenotype and cartilage matrix homeostasis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065060

30 October 2018

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 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4065060

30 October 2018

R-banding and nonisotopic in situ hybridization: precise localization of the human type II collagen gene (COL2A1)

1 reference

https://pubmed.ncbi.nlm.nih.gov/24949742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calvé-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/24949742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1

1 reference

https://pubmed.ncbi.nlm.nih.gov/24949742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0100505

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

2014PLoSO...9j0505L

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

ResearchGate publication ID

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