Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta (Q34548125)

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English	Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

osteogenesis imperfecta

0 references

author name string

D W Rowe

1

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

J R Shapiro

2

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

M Poirier

3

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

S Schlesinger

4

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Europe PubMed Central

PubMed publication ID

2 August 2017

language of work or name

0 references

publication date

1 August 1985

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Europe PubMed Central

PubMed publication ID

2 August 2017

Journal of Clinical Investigation

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Europe PubMed Central

PubMed publication ID

2 August 2017

76

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Europe PubMed Central

PubMed publication ID

2 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

604-611

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Posttranscriptional defects in beta-globin messenger RNA metabolism in beta-thalassemia: abnormal accumulation of beta-messenger RNA precursor sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423866

7 July 2018

A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing

1 reference

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7 July 2018

Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423866

7 July 2018

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=423866

7 July 2018

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=423866

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=423866

7 July 2018

Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423866

7 July 2018

Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant 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=423866

7 July 2018

Two cloned β thalassemia genes are associated with amber mutations at codon 39

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423866

7 July 2018

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=423866

7 July 2018

Thalassemia Revisited

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423866

7 July 2018

Hybridization of denatured RNA and small DNA fragments transferred to nitrocellulose

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423866

7 July 2018

Structurally Distinct Collagen Types

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423866

7 July 2018

Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423866

7 July 2018

A Film Detection Method for Tritium-Labelled Proteins and Nucleic Acids in Polyacrylamide Gels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423866

7 July 2018

Collagen polymorphism: characterization of molecules with the chain composition (alpha 1 (3)03 in human tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423866

7 July 2018

Procollagen: intermediate forms containing several types of peptide chains and non-collagen peptide extensions at NH2 and COOH ends

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423866

7 July 2018

Penetrance and variability in neurofibromatosis: a genetic study of 60 families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423866

7 July 2018

Beta thalassemia: aberrant splicing results from a single point mutation in an intron

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423866

27 October 2018

Structure of a cDNA for the pro alpha 2 chain of human type I procollagen. Comparison with chick cDNA for pro alpha 2(I) identifies structurally conserved features of the protein and the gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423866

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=423866

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=423866

27 October 2018

Recovery of DNA fragments from gels by transfer to DEAE-paper in an electrophoresis chamber

1 reference

https://pubmed.ncbi.nlm.nih.gov/4031065

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/4031065

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mRNAs for the pro-alpha 1(I) and pro-alpha 2(I) chains of type I procollagen are translated at the same rate in normal human fibroblasts and in fibroblasts from two variants of osteogenesis imperfecta with altered steady state ratios of the two

1 reference

https://pubmed.ncbi.nlm.nih.gov/4031065

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta and Paget's disease of bone. Biochemical and morphologic studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/4031065

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/4031065

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Confirmation that the type I collagen gene on chromosome 17 is COL1A1 (alpha 1(I), using a human genomic probe

1 reference

https://pubmed.ncbi.nlm.nih.gov/4031065

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta after the menopause

1 reference

https://pubmed.ncbi.nlm.nih.gov/4031065

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Formation of Triple-Helical Collagen Molecules from α1 or α2 Polypeptide Chains

1 reference

https://pubmed.ncbi.nlm.nih.gov/4031065

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of a mixture of proteinase-free collagenases for the specific assay of radioactive collagen in the presence of other proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/4031065

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/4031065

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/4031065

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/4031065

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and genetic patterns in osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/4031065

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormally spliced messenger RNA in erythroid cells from patients with β thalassemia and monkey cells expressing a cloned β -thalassemic gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/4031065

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box

1 reference

https://pubmed.ncbi.nlm.nih.gov/4031065

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/4031065

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI112012

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

ResearchGate publication ID

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