ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type (Q50278125)

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scientific article published on May 3, 2011

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English	ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type	scientific article published on May 3, 2011

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scholarly article

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Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/21538020

ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type (English)

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Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/21538020

platyspondylic lethal skeletal dysplasia, Torrance type

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animal disease model

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Europe PubMed Central

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1 December 2024

Tatsuya Furuichi

1

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Tatsuya Furuichi

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1 December 2024

author name string

Hiroshi Masuya

2

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28 February 2018

http://europepmc.org/abstract/MED/21538020

Tomohiko Murakami

3

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28 February 2018

http://europepmc.org/abstract/MED/21538020

Keiichiro Nishida

4

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28 February 2018

http://europepmc.org/abstract/MED/21538020

Gen Nishimura

5

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28 February 2018

http://europepmc.org/abstract/MED/21538020

Tomohiro Suzuki

6

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28 February 2018

http://europepmc.org/abstract/MED/21538020

Kazunori Imaizumi

7

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28 February 2018

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Takashi Kudo

8

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28 February 2018

http://europepmc.org/abstract/MED/21538020

Kiyoshi Ohkawa

9

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28 February 2018

http://europepmc.org/abstract/MED/21538020

Shigeharu Wakana

10

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28 February 2018

http://europepmc.org/abstract/MED/21538020

Shiro Ikegawa

11

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28 February 2018

http://europepmc.org/abstract/MED/21538020

language of work or name

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National Center for Biotechnology Information

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1 December 2024

publication date

3 May 2011

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28 February 2018

http://europepmc.org/abstract/MED/21538020

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11

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full work available at URL

http://link.springer.com/content/pdf/10.1007/s00335-011-9329-3.pdf

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10.1007/S00335-011-9329-3

https://api.crossref.org/works/10.1007/S00335-011-9329-3

1 December 2024

http://link.springer.com/article/10.1007/s00335-011-9329-3/fulltext.html

1 reference

10.1007/S00335-011-9329-3

https://api.crossref.org/works/10.1007/S00335-011-9329-3

1 December 2024

http://link.springer.com/content/pdf/10.1007/s00335-011-9329-3

1 reference

10.1007/S00335-011-9329-3

https://api.crossref.org/works/10.1007/S00335-011-9329-3

1 December 2024

Mammalian Genome

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28 February 2018

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28 February 2018

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28 February 2018

http://europepmc.org/abstract/MED/21538020

318-328

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Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/21538020

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

1 reference

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21 January 2018

Skeletal abnormalities and ultrastructural changes of cartilage in transgenic mice expressing a collagen II gene (COL2A1) with a Cys for Arg-alpha1-519 substitution

1 reference

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21 January 2018

Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations

1 reference

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21 January 2018

A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis

1 reference

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21 January 2018

Protein consequences of the Col2a1 C-propeptide mutation in the chondrodysplastic Dmm mouse

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

Cells expressing partially unfolded R789C/p.R989C type II procollagen mutant associated with spondyloepiphyseal dysplasia undergo apoptosis

1 reference

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21 January 2018

Dose-repetition increases the mutagenic effectiveness of N-ethyl-N-nitrosourea in mouse spermatogonia

1 reference

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21 January 2018

Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese population

1 reference

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21 January 2018

A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

Molecular recognition in the assembly of collagens: terminal noncollagenous domains are key recognition modules in the formation of triple helical protomers.

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

Transgenic mice with targeted inactivation of the Col2 alpha 1 gene for collagen II develop a skeleton with membranous and periosteal bone but no endochondral bone

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

Genetic epidemiology of primary osteoarthritis

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

Implementation of the modified-SHIRPA protocol for screening of dominant phenotypes in a large-scale ENU mutagenesis program

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI)

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 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://api.crossref.org/works/10.1007/S00335-011-9329-3

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/10.1007/S00335-011-9329-3

21 January 2018

Collagens, modifying enzymes and their mutations in humans, flies and worms

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

The phenotypic spectrum of COL2A1 mutations

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

Random mutagenesis screen for dominant behavioral mutations in mice

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

New insights into the function of collagens from genetic analysis

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

Signal integration in the endoplasmic reticulum unfolded protein response

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

Regulation of endoplasmic reticulum stress response by a BBF2H7-mediated Sec23a pathway is essential for chondrogenesis

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

ER stress and the unfolded protein response

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 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://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

Surviving endoplasmic reticulum stress is coupled to altered chondrocyte differentiation and function

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 2018

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

1 reference

https://api.crossref.org/works/10.1007/S00335-011-9329-3

21 January 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://pubmed.ncbi.nlm.nih.gov/21538020

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21538020

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early-onset osteoarthritis linked to the type II procollagen gene. Detailed clinical phenotype and further analyses of the gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/21538020

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disproportionate micromelia (Dmm): an incomplete dominant mouse dwarfism with abnormal cartilage matrix

1 reference

https://pubmed.ncbi.nlm.nih.gov/21538020

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type II collagenopathies: are there additional family members?

1 reference

https://pubmed.ncbi.nlm.nih.gov/21538020

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Skeletal development in transgenic mice expressing a mutation at Gly574Ser of type II collagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/21538020

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/21538020

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Folding of carboxyl domain and assembly of procollagen I

1 reference

https://pubmed.ncbi.nlm.nih.gov/21538020

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The reliability of the mankin score for osteoarthritis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21538020

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical and metabolic abnormalities in articular cartilage from osteo-arthritic human hips. II. Correlation of morphology with biochemical and metabolic data

1 reference

https://pubmed.ncbi.nlm.nih.gov/21538020

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disproportionate micromelia (Dmm) in mice caused by a mutation in the C-propeptide coding region of Col2a1

1 reference

https://pubmed.ncbi.nlm.nih.gov/21538020

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Premature osteoarthritis in the Disproportionate micromelia (Dmm) mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/21538020

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chondrocalcin is identical with the C-propeptide of type II procollagen.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21538020

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

17

1 reference

10.1007/S00335-011-9329-3

https://api.crossref.org/works/10.1007/S00335-011-9329-3

1 December 2024

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia

44

1 reference

10.1007/S00335-011-9329-3

https://api.crossref.org/works/10.1007/S00335-011-9329-3

1 December 2024

Identifiers

10.1007/S00335-011-9329-3

1 reference

Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/21538020

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1 reference

https://api.fatcat.wiki/v0/release/meqhe2hbi5gbrnqhi6icbmaj24

24 November 2022

based on heuristic

mapped directly with Wikidata item

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/21538020

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