(Q42829232)

English

A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing th

scientific article published on September 1994

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing th (English)

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

author name string

Bateman JF

1

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

Chan D

2

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

Moeller I

3

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

Hannagan M

4

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

Cole WG

5

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

language of work or name

0 references

publication date

1 September 1994

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

Biochemical Journal

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

302 ( Pt 3)

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

729-735

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta

1 reference

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Induction of metallothionein mRNA in rat liver and kidney after copper chloride injection

1 reference

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Collagen defects in lethal perinatal osteogenesis imperfecta

1 reference

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

1 reference

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An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

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

1 reference

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Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

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Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human type I procollagen

1 reference

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Splicing of messenger RNA precursors

1 reference

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Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human pro alpha 1(I) collagen gene (COL1A1)

1 reference

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Changes in collagen stability and folding in lethal perinatal osteogenesis imperfecta. The effect of alpha 1 (I)-chain glycine-to-arginine substitutions

1 reference

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Alternative splicing in the control of gene expression

1 reference

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The control of muscle gene expression: a review of molecular studies on the production and processing of primary transcripts

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A frameshift mutation results in a truncated nonfunctional carboxyl-terminal pro alpha 1(I) propeptide of type I collagen in osteogenesis imperfecta

1 reference

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Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

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Regulation of procollagen synthesis and processing during ascorbate-induced extracellular matrix accumulation in vitro

1 reference

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Differential expression of a cysteine-rich domain in the amino-terminal propeptide of type II (cartilage) procollagen by alternative splicing of mRNA.

1 reference

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Improvement of PCR amplified DNA sequencing with the aid of detergents

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An intron mutation in the human alpha 1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1137292

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Effect of 5' splice site mutations on splicing of the preceding intron

1 reference

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Brittle bones--fragile molecules: disorders of collagen gene structure and expression

1 reference

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Tropoelastin heterogeneity: implications for protein function and disease

1 reference

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Exon definition may facilitate splice site selection in RNAs with multiple exons

1 reference

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Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency

1 reference

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Mutations in collagen genes: causes of rare and some common diseases in humans

1 reference

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Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of southern Europe

1 reference

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Genetics and molecular biology of haemophilias A and B

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Alternative splicing of fibronectin: Three variants, three functions

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The steroid receptor superfamily: mechanisms of diversity

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Alternative splicing of the human alpha 2(VI) collagen gene generates multiple mRNA transcripts which predict three protein variants with distinct carboxyl termini

1 reference

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Molecular characterization of plasma membrane calcium pump isoforms

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Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency

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De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis

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Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene

1 reference

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Genetic heterogeneity in osteogenesis imperfecta

1 reference

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1 reference

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1 reference

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A structural mutation of the collagen alpha 1(I)CB7 peptide in lethal perinatal osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/7945197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical heterogeneity of type I collagen mutations in osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/7945197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/7945197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection and localization of base changes in RNA using a chemical cleavage method

1 reference

https://pubmed.ncbi.nlm.nih.gov/7945197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence specific thermal stability of the collagen triple helix

1 reference

https://pubmed.ncbi.nlm.nih.gov/7945197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human pre-mRNA splicing signals

1 reference

https://pubmed.ncbi.nlm.nih.gov/7945197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Invariant exon skipping in the human α-galactosidase A pre-mRNA: A g+1 to t substitution in a 5′-splice site causing Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7945197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Splice site mutations are a common cause of X-linked chronic granulomatous disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7945197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deposition and selective degradation of structurally-abnormal type I collagen in a collagen matrix produced by osteogenesis imperfecta fibroblasts in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/7945197

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1042/BJ3020729

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

8 November 2017

ResearchGate publication ID

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