(Q37535564)

English

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

scientific article published on June 1991

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

0 references

osteogenesis imperfecta

0 references

postmenopausal osteoporosis

1 reference

based on heuristic

inferred from title

author name string

L D Spotila

1

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

C D Constantinou

2

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

L Sereda

3

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

A Ganguly

4

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

B L Riggs

5

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

D J Prockop

6

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

language of work or name

0 references

publication date

1 June 1991

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

number of pages

5

1 reference

based on heuristic

inferred from page(s)

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

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

88

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

12

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

5423-5427

1 reference

Europe PubMed Central

PMC publication ID

20 August 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=51885

23 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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51885

23 August 2017

Involutional osteoporosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51885

23 August 2017

Characterization of DNA sequences associated with residual nuclei of Saccharomyces cerevisiae

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51885

23 August 2017

Structure of a full-length cDNA clone for the prepro alpha 2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51885

23 August 2017

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=51885

23 August 2017

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=51885

23 August 2017

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=51885

23 August 2017

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=51885

6 September 2017

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=51885

6 September 2017

Detection of single-base mutations by reaction of DNA heteroduplexes with a water-soluble carbodiimide followed by primer extension: application to products from the polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51885

14 September 2017

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=51885

25 June 2018

Collagen fibrils in vitro grow from pointed tips in the C- to N-terminal direction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51885

25 June 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=51885

1 September 2018

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/2052622

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reduced bone mass in daughters of women with osteoporosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2052622

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/2052622

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.88.12.5423

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

1991PNAS...88.5423S

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

ResearchGate publication ID

0 references

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