(Q35597903)

English

An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen

scientific article published on February 1, 1992

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

osteogenesis imperfecta

0 references

author name string

J. R. Shapiro

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737847

12 November 2022

M. L. Stover

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737847

12 November 2022

V. E. Burn

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737847

12 November 2022

M. B. McKinstry

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737847

12 November 2022

A. L. Burshell

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737847

12 November 2022

S. D. Chipman

6

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737847

12 November 2022

D. W. Rowe

7

1 reference

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12 November 2022

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publication date

1 February 1992

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Europe PubMed Central

PubMed publication ID

9 August 2017

full work available at URL

https://europepmc.org/articles/PMC442889

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Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737847

12 November 2022

https://europepmc.org/articles/PMC442889?pdf=render

Portable Document Format

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Europe PubMed Central

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737847

12 November 2022

Journal of Clinical Investigation

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

89

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

567-573

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442889

12 July 2018

A cysteine for glycine substitution at position 1017 in an alpha 1(I) chain of type I collagen in a patient with mild dominantly inherited osteogenesis imperfecta.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442889

12 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=442889

12 July 2018

Osteogenesis imperfecta: the molecular basis of clinical heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442889

12 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=442889

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442889

12 July 2018

Peak skeletal mass assessment in young adults with idiopathic scoliosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442889

12 July 2018

Osteoporosis and familial idiopathic scoliosis: association with an abnormal alpha 2(I) collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442889

12 July 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=442889

12 July 2018

Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442889

12 July 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=442889

12 July 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=442889

12 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=442889

12 July 2018

Osteogenesis imperfecta and fractures in childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442889

12 July 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=442889

26 September 2018

Direct cloning and sequence analysis of enzymatically amplified genomic sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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/1737847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical variability of osteogenesis imperfecta reflecting molecular heterogeneity: cysteine substitutions in the alpha 1(I) collagen chain producing lethal and mild forms

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The definition and diagnosis of osteoporosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein fingerprinting by SDS-gel electrophoresis after partial fragmentation with CNBr

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The estimation of two collagens from human dermis by interrupted gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pulmonary hypoplasia and osteogenesis imperfecta type II with defective synthesis of alpha I(1) procollagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta. A model for genetic causes of osteoporosis and perhaps several other common diseases of connective tissue

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural study of a mutant type I collagen from a patient with lethal osteogenesis imperfecta containing an intramolecular disulfide bond in the triple-helical domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Imperfect osteogenesis and osteoporosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737847

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/1737847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of collagen synthesis in fetal rat calvaria by 1,25-dihydroxyvitamin D3

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737847

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI115622

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

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