(Q35815832)

English

Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype

scientific article published in October 1989

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype (English)

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

osteogenesis imperfecta

0 references

1 reference

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author name string

B J Starman

1

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

D Eyre

2

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

H Charbonneau

3

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

M Harrylock

4

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

M A Weis

5

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

L Weiss

6

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

J M Graham

7

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

P H Byers

8

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

language of work or name

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publication date

1 October 1989

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Europe PubMed Central

PMC publication ID

10 August 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

84

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

4

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

1206-1214

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329779

27 July 2018

Abnormal alpha 2-chain in type I collagen from a patient with a 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=329779

27 July 2018

The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329779

27 July 2018

Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329779

27 July 2018

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329779

27 July 2018

Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal 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=329779

27 July 2018

Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329779

27 July 2018

Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329779

27 July 2018

Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329779

27 July 2018

Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329779

27 July 2018

Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329779

27 July 2018

Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329779

27 July 2018

A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstab

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329779

27 July 2018

Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329779

27 July 2018

Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329779

27 July 2018

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329779

27 July 2018

A 19-base pair deletion in the pro-alpha 2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic mother

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329779

24 September 2018

A substitution of cysteine for glycine 748 of the alpha 1 chain produces a kink at this site in the procollagen I molecule and an altered N-proteinase cleavage site over 225 nm away

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329779

24 September 2018

The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains

1 reference

https://pubmed.ncbi.nlm.nih.gov/2794057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/2794057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of α1-CB8, a large cyanogen bromide produced fragment from the α1 chain of rat collagen. The nature of a hydroxylamine-sensitive bond and composition of tryptic peptides

1 reference

https://pubmed.ncbi.nlm.nih.gov/2794057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A procedure for in situ alkylation of cystine residues on glass fiber prior to protein microsequence analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2794057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the collagenous proteins synthesized by cultured cells from human skin

1 reference

https://pubmed.ncbi.nlm.nih.gov/2794057

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/2794057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Collagen of fibrocartilage: a distinctive molecular phenotype in bovine meniscus

1 reference

https://pubmed.ncbi.nlm.nih.gov/2794057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/2794057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain

1 reference

https://pubmed.ncbi.nlm.nih.gov/2794057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/2794057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/2794057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of cytoplasmic and nuclear messenger RNA in fibroblasts from patients with type I osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/2794057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/2794057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation causes a perinatal lethal form of osteogenesis imperfecta. An insertion in one alpha 1(I) collagen allele (COL1A1)

1 reference

https://pubmed.ncbi.nlm.nih.gov/2794057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta is linked to both type I collagen structural genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2794057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI114286

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

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