(Q36273390)

English

Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta

scientific article published on July 1, 1984

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta (English)

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

1 reference

based on heuristic

inferred from title

osteogenesis imperfecta

0 references

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%3A6087329

2 August 2023

1 reference

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author name string

L. A. Dickson

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%3A6087329

2 August 2023

T. Pihlajaniemi

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%3A6087329

2 August 2023

S. Deak

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%3A6087329

2 August 2023

F. M. Pope

4

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%3A6087329

2 August 2023

A. Nicholls

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%3A6087329

2 August 2023

D. J. Prockop

6

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%3A6087329

2 August 2023

J. C. Myers

7

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%3A6087329

2 August 2023

language of work or name

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publication date

1 July 1984

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

full work available at URL

https://europepmc.org/articles/PMC345623

online access status

content deliverer

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%3A6087329

2 August 2023

https://europepmc.org/articles/PMC345623?pdf=render

Portable Document Format

online access status

content deliverer

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%3A6087329

2 August 2023

https://pnas.org/doi/pdf/10.1073/pnas.81.14.4524

1 reference

10.1073/PNAS.81.14.4524

https://api.crossref.org/works/10.1073/PNAS.81.14.4524

2 August 2023

Proceedings of the National Academy of Sciences of the United States of America

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

81

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

14

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

4524-4528

1 reference

Europe PubMed Central

PMC publication ID

13 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=345623

30 September 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=345623

30 September 2017

A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=345623

30 September 2017

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=345623

30 September 2017

Genetic disorders of collagen metabolism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=345623

30 September 2017

Analysis of the 3' end of the human pro-alpha 2(I) collagen gene. Utilization of multiple polyadenylation sites in cultured fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=345623

30 September 2017

Cloning a cDNA for the pro-alpha 2 chain of human type I collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=345623

30 September 2017

57 Sequencing end-labeled DNA with base-specific chemical cleavages

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=345623

30 September 2017

Cloning and characterization of five overlapping cDNAs specific for the human proα 1(I) collagen chain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=345623

30 September 2017

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=345623

30 September 2017

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=345623

30 September 2017

Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=345623

30 September 2017

Kinetics for the secretion of nonhelical 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=345623

30 September 2017

Spliced early mRNAs of simian virus 40

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=345623

30 September 2017

Termination of procollagen chain synthesis by puromycin. Evidence that assembly and secretion require a COOH-terminal extension

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=345623

30 September 2017

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=345623

29 June 2018

Purification and Further Properties of Single-Strand-Specific Nuclease from Aspergillus oryzae

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=345623

29 June 2018

Isolation and translation of elastin mRNA from chick aorta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=345623

29 June 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=345623

22 September 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=345623

22 September 2018

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/6087329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical heterogeneity of osteogenesis imperfecta: New variant

1 reference

https://pubmed.ncbi.nlm.nih.gov/6087329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Folding mechanism of the triple helix in type-III collagen and type-III pN-collagen. Role of disulfide bridges and peptide bond isomerization

1 reference

https://pubmed.ncbi.nlm.nih.gov/6087329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chain assembly intermediate in the biosynthesis of type III procollagen in chick embryo blood vessels

1 reference

https://pubmed.ncbi.nlm.nih.gov/6087329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Globin structural mutant α125Leu→Pro is a novel cause of α-thalassaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/6087329

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/6087329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.81.14.4524

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

1984PNAS...81.4524D

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

ResearchGate publication ID

0 references

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