The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences (Q29619441)

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3

Cooper DN

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author name string

Krawczak M

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1

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Reiss J

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2

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publication date

1992

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volume

90

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page(s)

41-54

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issue

1-2

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Intron sequences involved in lariat formation during pre-mRNA splicing.

30 April 2017

cites work

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A mutational analysis of spliceosome assembly: evidence for splice site collaboration during spliceosome formation

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Splicing of messenger RNA precursors

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5' cleavage site in eukaryotic pre-mRNA splicing is determined by the overall 5' splice region, not by the conserved 5' GU

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Mammalian U2 snRNP has a sequence-specific RNA-binding activity

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Identification of nuclear proteins that specifically bind to RNAs containing 5' splice sites

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Signals for the selection of a splice site in pre-mRNA. Computer analysis of splice junction sequences and like sequences

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Structure of spliceosomal snRNPs and their role in pre-mRNA splicing

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

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Selection of splice sites in pre-mRNAs with short internal exons

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Mutations in the RB1 gene and their effects on transcription

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Mechanisms of insertional mutagenesis in human genes causing genetic disease

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Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not othe

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Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

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Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe

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Splice junction mutations in factor IX gene resulting in severe hemophilia B.

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Unexpected point mutations activate cryptic 3' splice sites by perturbing a natural secondary structure within a yeast intron

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A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing

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Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes.

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The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects

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Alternative splicing caused by RNA secondary structure.

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Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene.

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Exon mutations that affect the choice of splice sites used in processing the SV40 late transcripts

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Inhibition of splicing but not cleavage at the 5' splice site by truncating human beta-globin pre-mRNA

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Multiple factors including the small nuclear ribonucleoproteins U1 and U2 are necessary for pre-mRNA splicing in vitro.

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Mammalian pre-mRNA branch site selection by U2 snRNP involves base pairing.

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12 December 2020

The length of the downstream exon and the substitution of specific sequences affect pre-mRNA splicing in vitro

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12 December 2020

Nonconsensus branch-site sequences in the in vitro splicing of transcripts of mutant rabbit beta-globin genes

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12 December 2020

A protein associated with small nuclear ribonucleoprotein particles recognizes the 3' splice site of premessenger RNA

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12 December 2020

Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA

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12 December 2020

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

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12 December 2020

Identification of a specific exon sequence that is a major determinant in the selection between a natural and a cryptic 5' splice site

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12 December 2020

A catalogue of splice junction sequences

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12 December 2020

Haemophilia B: database of point mutations and short additions and deletions--second edition

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The U1 small nuclear RNA-protein complex selectively binds a 5' splice site in vitro

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12 December 2020

Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.

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12 December 2020

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

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12 December 2020

Cryptic branch point activation allows accurate in vitro splicing of human beta-globin intron mutants

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12 December 2020

Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene

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12 December 2020

Characterization of pathological dystrophin transcripts from the lymphocytes of a muscular dystrophy carrier

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12 December 2020

Deletion analysis of a unique 3' splice site indicates that alternating guanine and thymine residues represent an efficient splicing signal

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12 December 2020

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

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12 December 2020

Identification and purification of a 62,000-dalton protein that binds specifically to the polypyrimidine tract of introns

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12 December 2020

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

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12 December 2020

A factor, U2AF, is required for U2 snRNP binding and splicing complex assembly

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12 December 2020

A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.

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12 December 2020

Combinatorial splicing of exon pairs by two-site binding of U1 small nuclear ribonucleoprotein particle

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12 December 2020

Role of the 3' splice site consensus sequence in mammalian pre-mRNA splicing.

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12 December 2020

Control of Alternative Splicing by the Differential Binding of U1 Small Nuclear Ribonucleoprotein Particle

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12 December 2020

A protein that specifically recognizes the 3' splice site of mammalian pre-mRNA introns is associated with a small nuclear ribonucleoprotein

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12 December 2020

Interactions between small nuclear ribonucleoprotein particles in formation of spliceosomes

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12 December 2020

Organization and expression of eucaryotic split genes coding for proteins

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12 December 2020

U1 snRNP can influence 3'-splice site selection as well as 5'-splice site selection

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12 December 2020

A compensatory base change in human U2 snRNA can suppress a branch site mutation

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12 December 2020

The organization of 3' splice-site sequences in mammalian introns

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12 December 2020

A role for exon sequences and splice-site proximity in splice-site selection

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12 December 2020

Identifiers

DOI

10.1007/BF00210743

1 reference

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

1204140

1037661352

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1204140

1 reference

Consolidated OpenCitations Corpus – April 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1427786

2 references

30 April 2017

Consolidated OpenCitations Corpus – April 2017