(Q34566616)

English

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

osteogenesis imperfecta

0 references

author name string

C D Constantinou

1

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

K B Nielsen

2

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

D J Prockop

3

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

language of work or name

0 references

publication date

1 February 1989

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

83

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

574-584

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Reduced secretion of structurally abnormal type I procollagen in 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=303717

7 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=303717

7 July 2018

Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303717

7 July 2018

Nucleotide sequences of complementary deoxyribonucleic acids for the pro alpha 1 chain of human type I procollagen. Statistical evaluation of structures that are conserved during evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303717

7 July 2018

The collagen substrate specificity of human skin fibroblast collagenase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303717

7 July 2018

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=303717

7 July 2018

Heritable diseases of collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303717

7 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=303717

7 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=303717

7 July 2018

Use of R-loop mapping for the assessment of human collagen mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303717

7 July 2018

Collagen genes and inherited connective tissue disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303717

7 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=303717

7 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=303717

7 July 2018

Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a 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=303717

7 July 2018

The A and B fragments of normal type I procollagen have a similar thermal stability to proteinase digestion but are selectively destabilized by structural mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303717

7 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=303717

7 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=303717

7 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=303717

7 July 2018

Kinetics for the secretion of procollagen by freshly isolated tendon cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303717

7 July 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=303717

7 July 2018

Human skin collagenase: isolation of precursor and active forms from both fibroblast and organ cultures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303717

7 July 2018

A heterozygous defect for structurally altered pro-alpha 2 chain of type I procollagen in a mild variant of osteogenesis imperfecta. The altered structure decreases the thermal stability of procollagen and makes it resistant to procollagen N-protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303717

27 October 2018

Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303717

27 October 2018

Internal deletion in a collagen gene in a perinatal 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=303717

27 October 2018

Peptide mapping of collagen chains using CNBr cleavage of proteins within polyacrylamide gels

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913053

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/2913053

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The molecular defect in a nonlethal variant of osteogenesis imperfecta. Synthesis of pro-alpha 2(I) chains which are not incorporated into trimers of type I procollagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913053

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/2913053

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/2913053

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913053

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/2913053

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/2913053

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/2913053

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/2913053

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/2913053

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Formation of the triple helix of type I procollagen in cellulo. A kinetic model based on cis-trans isomerization of peptide bonds

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913053

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI113920

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

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