(Q34169901)

English

An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in joints

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Europe PubMed Central

PubMed publication ID

31 July 2017

An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in joints (English)

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Europe PubMed Central

PubMed publication ID

31 July 2017

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author name string

H J Helminen

1

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31 July 2017

K Kiraly

2

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31 July 2017

A Pelttari

3

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31 July 2017

M I Tammi

4

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31 July 2017

P Vandenberg

5

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31 July 2017

R Pereira

6

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31 July 2017

R Dhulipala

7

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31 July 2017

J S Khillan

8

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31 July 2017

L Ala-Kokko

9

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31 July 2017

E L Hume

10

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31 July 2017

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1 August 1993

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31 July 2017

Journal of Clinical Investigation

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31 July 2017

92

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31 July 2017

2

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31 July 2017

582-595

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Europe PubMed Central

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31 July 2017

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294889

28 July 2018

Transgenic mice expressing a partially deleted gene for type I procollagen (COL1A1). A breeding line with a phenotype of spontaneous fractures and decreased bone collagen and mineral

1 reference

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28 July 2018

Heritable diseases of collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294889

28 July 2018

Transient expression of collagen type II at epitheliomesenchymal interfaces during morphogenesis of the cartilaginous neurocranium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294889

28 July 2018

Isolation and partial characterization of the entire human pro alpha 1(II) collagen gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294889

28 July 2018

The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294889

28 July 2018

Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism

1 reference

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28 July 2018

Identification of the molecular defect in a family with spondyloepiphyseal dysplasia

1 reference

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28 July 2018

Transgenic mouse model of the mild dominant form of osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294889

28 July 2018

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294889

28 July 2018

Mutations that alter the primary structure of type I collagen. The perils of a system for generating large structures by the principle of nucleated growth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294889

28 July 2018

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294889

28 July 2018

Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen alpha 1-chain gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294889

28 July 2018

Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294889

28 July 2018

Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294889

28 July 2018

The transient expression of type II collagen at tissue interfaces during mammalian craniofacial development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294889

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=294889

28 July 2018

Seminars in medicine of the Beth Israel Hospital, Boston. Mutations in collagen genes as a cause of connective-tissue diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294889

28 July 2018

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294889

28 July 2018

Chondrodysplasia in transgenic mice harboring a 15-amino acid deletion in the triple helical domain of pro alpha 1(II) collagen chain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294889

28 July 2018

Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294889

28 October 2018

Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294889

28 October 2018

Procollagen II Gene Mutation in Stickler Syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8349798

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The determination of hydroxyproline in tissue and protein samples containing small proportions of this imino acid

1 reference

https://pubmed.ncbi.nlm.nih.gov/8349798

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Suitability of the C57 black mouse as an experimental animal for the study of skeletal changes due to ageing, with special reference to osteo-arthrosis and its response to tribenoside

1 reference

https://pubmed.ncbi.nlm.nih.gov/8349798

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bone status of senescent male rats: chemical, morphometric, and mechanical analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8349798

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PREDISPOSITION TO FAMILIAL OSTEOARTHROSIS LINKED TO TYPE II COLLAGEN GENE

1 reference

https://pubmed.ncbi.nlm.nih.gov/8349798

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8349798

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transgenic mice that express a mini-gene version of the human gene for type I procollagen (COL1A1) develop a phenotype resembling a lethal form of osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/8349798

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/8349798

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI116625

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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