(Q42825662)

English

Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships

scientific article published on May 1995

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships (English)

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

author name string

J Bonaventure

1

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

L Cohen-Solal

2

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

P Ritvaniemi

3

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

L Van Maldergem

4

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

N Kadhom

5

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

A L Delezoide

6

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

P Maroteaux

7

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

D J Prockop

8

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

L Ala-Kokko

9

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

language of work or name

0 references

publication date

1 May 1995

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

Biochemical Journal

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

307 ( Pt 3)

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

823-830

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

Deletion of a large domain in recombinant human procollagen II does not alter the thermal stability of the triple helix

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1136723

27 May 2018

Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and 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=1136723

27 May 2018

Molecular weight determination of membrane protein and glycoprotein subunits by discontinuous gel electrophoresis in dodecyl sulfate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1136723

27 May 2018

Pattern recognition in bone dysplasias.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1136723

27 May 2018

Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1136723

27 May 2018

Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1136723

27 May 2018

Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1136723

27 May 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=1136723

27 May 2018

Effect of relaxin on the phenotype of collagens synthesized by cultured rabbit chondrocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1136723

27 May 2018

Energetics of intrachain salt-linkage formation in collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1136723

27 May 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=1136723

27 May 2018

Mutations in collagen genes: causes of rare and some common diseases in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1136723

27 May 2018

Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal d

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1136723

27 May 2018

Osteogenesis imperfecta: translation of mutation to phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1136723

27 May 2018

An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1136723

27 May 2018

Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1136723

27 May 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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1136723

27 July 2018

A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1136723

16 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1136723

16 August 2018

A Mutation in the Amino-Terminal End of the Triple Helix of Type II Collagen Causing Severe Osteochondrodysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1136723

1 December 2018

Dedifferentiated chondrocytes reexpress the differentiated collagen phenotype when cultured in agarose gels

1 reference

https://pubmed.ncbi.nlm.nih.gov/7741714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypochondrogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7741714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The absence of type II collagen and changes in proteoglycan structure of hyaline cartilage in a case of Langer-Saldino achondrogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7741714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Synthesis and Turnover of Proteoglycans by Human and Bovine Adult Articular Chondrocytes Cultured in Alginate Beads

1 reference

https://pubmed.ncbi.nlm.nih.gov/7741714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7741714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose

1 reference

https://pubmed.ncbi.nlm.nih.gov/7741714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reexpression of cartilage-specific genes by dedifferentiated human articular chondrocytes cultured in alginate beads

1 reference

https://pubmed.ncbi.nlm.nih.gov/7741714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7741714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Microdetermination of hydroxyproline with chloramine-T and p-dimethylaminobenzaldehyde]

1 reference

https://pubmed.ncbi.nlm.nih.gov/7741714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proteolytic enzymes as probes for the triple-helical conformation of procollagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/7741714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1042/BJ3070823

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

ResearchGate publication ID

0 references

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