(Q42796464)

English

Two cysteine substitutions in procollagen I: a glycine replacement near the N-terminus of alpha 1(I) chain causes lethal osteogenesis imperfecta and a glycine replacement in the alpha 2(I) chain markedly destabilizes the triple helix

scientific article published on January 1993

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Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

7 November 2017

Two cysteine substitutions in procollagen I: a glycine replacement near the N-terminus of alpha 1(I) chain causes lethal osteogenesis imperfecta and a glycine replacement in the alpha 2(I) chain markedly destabilizes the triple helix (English)

1 reference

Europe PubMed Central

PMC publication ID

7 November 2017

osteogenesis imperfecta

0 references

author name string

A Fertala

1

1 reference

Europe PubMed Central

PMC publication ID

7 November 2017

A Westerhausen

2

1 reference

Europe PubMed Central

PMC publication ID

7 November 2017

G Morris

3

1 reference

Europe PubMed Central

PMC publication ID

7 November 2017

J E Rooney

4

1 reference

Europe PubMed Central

PMC publication ID

7 November 2017

D J Prockop

5

1 reference

Europe PubMed Central

PMC publication ID

7 November 2017

language of work or name

0 references

publication date

1 January 1993

1 reference

Europe PubMed Central

PMC publication ID

7 November 2017

number of pages

5

1 reference

based on heuristic

inferred from page(s)

Biochemical Journal

1 reference

Europe PubMed Central

PMC publication ID

7 November 2017

289 ( Pt 1)

1 reference

Europe PubMed Central

PMC publication ID

7 November 2017

195-199

1 reference

Europe PubMed Central

PMC publication ID

7 November 2017

A simple and very efficient method for generating cDNA libraries

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132149

27 May 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=1132149

27 May 2018

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132149

27 May 2018

Brittle bones--fragile molecules: disorders of collagen gene structure and expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132149

27 May 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=1132149

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=1132149

27 May 2018

A sequence polymorphism in the 3'-nontranslated region of the pro alpha 1 chain 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=1132149

27 May 2018

Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132149

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=1132149

27 May 2018

Copolymerization of normal type I collagen with three mutated type I collagens containing substitutions of cysteine at different glycine positions in the alpha 1 (I) chain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132149

27 May 2018

Quantitative Film Detection of 3H and 14C in Polyacrylamide Gels by Fluorography

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132149

27 May 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=1132149

27 May 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132149

27 May 2018

Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the molecule

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1132149

16 August 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=1132149

16 August 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8424758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta: an expanding panorama of variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/8424758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/8424758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Allele-specific hybridization using oligonucleotide probes of very high specific activity: discrimination of the human beta A- and beta S-globin genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8424758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/8424758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino aci

1 reference

https://pubmed.ncbi.nlm.nih.gov/8424758

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1042/BJ2890195

1 reference

Europe PubMed Central

PMC publication ID

7 November 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

7 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

7 November 2017

ResearchGate publication ID

0 references

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