(Q33633029)

English

Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain

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scholarly article

1 reference

Europe PubMed Central

28 July 2017

Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain (English)

1 reference

Europe PubMed Central

28 July 2017

author name string

G Tromp

1

1 reference

Europe PubMed Central

28 July 2017

D J Prockop

2

1 reference

Europe PubMed Central

28 July 2017

language of work or name

0 references

publication date

1 July 1988

1 reference

Europe PubMed Central

28 July 2017

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

1 reference

Europe PubMed Central

28 July 2017

85

1 reference

Europe PubMed Central

28 July 2017

5254-5258

1 reference

Europe PubMed Central

28 July 2017

14

1 reference

Europe PubMed Central

28 July 2017

A catalogue of splice junction sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=281728

21 June 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=281728

21 June 2018

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=281728

21 June 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=281728

21 June 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=281728

21 June 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=281728

21 June 2018

Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=281728

21 June 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=281728

21 June 2018

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=281728

21 June 2018

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=281728

21 June 2018

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=281728

21 June 2018

A DNA insertion/deletion necessitates an aberrant RNA splice accounting for a mu heavy chain disease protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=281728

21 June 2018

The molecular basis of a familial apoE deficiency. An acceptor splice site mutation in the third intron of the deficient apoE gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=281728

21 June 2018

Spontaneous splicing mutations at the dihydrofolate reductase locus in Chinese hamster ovary cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=281728

21 June 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=281728

21 June 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=281728

21 June 2018

Splicing of messenger RNA precursors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=281728

21 June 2018

Splicing of messenger RNA precursors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=281728

21 June 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=281728

21 June 2018

Biochemical method for mapping mutational alterations in DNA with S1 nuclease: the location of deletions and temperature-sensitive mutations in simian virus 40

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=281728

21 June 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=281728

30 October 2018

Strand separation of DNA fragments and their isolation from nondenaturing polyacrylamide gels

1 reference

https://pubmed.ncbi.nlm.nih.gov/2839839

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain

1 reference

https://pubmed.ncbi.nlm.nih.gov/2839839

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/2839839

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and characterization of the human fibrillar collagen genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2839839

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The structure of the chicken alpha 2 collagen gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/2839839

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/2839839

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/2839839

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/2839839

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/2839839

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Renaturation of Soluble Collagen. Products Formed at Different Temperatures*

1 reference

https://pubmed.ncbi.nlm.nih.gov/2839839

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Collagen structure in solution. III. Effect of cross-links on thermal stability and refolding kinetics

1 reference

https://pubmed.ncbi.nlm.nih.gov/2839839

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/2839839

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.85.14.5254

1 reference

Europe PubMed Central

28 July 2017

1988PNAS...85.5254T

0 references

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

ResearchGate publication ID

0 references

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