(Q62712510)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9804951%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

review article

1 reference

title

Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9804951%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9804951%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

J P O'Neill

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9804951%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

N Cariello

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9804951%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

J A Nicklas

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9804951%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

language of work or name

English

0 references

publication date

1 November 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9804951%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9804951%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

volume

411

1 reference

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6 December 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9804951%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

page(s)

179-214

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9804951%20AND%20SRC:MED&resulttype=core&format=json

The structure and function of proteins involved in mammalian pre-mRNA splicing

6 December 2019

cites work

1 reference

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7 January 2021

Initial splice-site recognition and pairing during pre-mRNA splicing

1 reference

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7 January 2021

Identification of proteins that interact with exon sequences, splice sites, and the branchpoint sequence during each stage of spliceosome assembly

1 reference

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7 January 2021

hnRNP proteins and the biogenesis of mRNA

1 reference

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7 January 2021

Specific commitment of different pre-mRNAs to splicing by single SR proteins

1 reference

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7 January 2021

Exon recognition in vertebrate splicing

1 reference

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7 January 2021

A novel U2-U6 snRNA structure is necessary for mammalian mRNA splicing

1 reference

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7 January 2021

Complementation by SR proteins of pre-mRNA splicing reactions depleted of U1 snRNP

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Modulation of 5' splice site choice in pre-messenger RNA by two distinct steps

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Regulation of alternative splicing in vivo by overexpression of antagonistic splicing factors

1 reference

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7 January 2021

General splicing factor SF2/ASF promotes alternative splicing by binding to an exonic splicing enhancer

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Distinct binding specificities and functions of higher eukaryotic polypyrimidine tract-binding proteins

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Construction of a novel database containing aberrant splicing mutations of mammalian genes

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Prediction of human mRNA donor and acceptor sites from the DNA sequence

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Specific interactions between proteins implicated in splice site selection and regulated alternative splicing

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

The role of exon sequences in splice site selection.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

The cardiac troponin T alternative exon contains a novel purine-rich positive splicing element

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

A splicing enhancer in the human fibronectin alternate ED1 exon interacts with SR proteins and stimulates U2 snRNP binding

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Alternative processing of bovine growth hormone mRNA is influenced by downstream exon sequences

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Regulation of alternative pre-mRNA splicing by a novel repeated hexanucleotide element

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

The exon sequence TAGG can inhibit splicing

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Distribution and consensus of branch point signals in eukaryotic genes: a computerized statistical analysis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Human pre-mRNA splicing signals

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Sequence walkers: A graphical method to display how binding proteins interact with DNA or RNA sequences

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Branch point selection in alternative splicing of tropomyosin pre-mRNAs

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Exon as well as intron sequences are cis-regulating elements for the mutually exclusive alternative splicing of the beta tropomyosin gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Mutually exclusive splicing of alpha-tropomyosin exons enforced by an unusual lariat branch point location: implications for constitutive splicing

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Splicing mutants and their second-site suppressors at the dihydrofolate reductase locus in Chinese hamster ovary cells

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Scanning and competition between AGs are involved in 3' splice site selection in mammalian introns

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Sequence of the polypyrimidine tract of the 3'-terminal 3' splicing signal can affect intron-dependent pre-mRNA processing in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

A nuclear cap binding protein complex involved in pre-mRNA splicing

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

In vitro polyadenylation is stimulated by the presence of an upstream intron

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

A minimal intron length but no specific internal sequence is required for splicing the large rabbit beta-globin intron

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

In Vivo Recognition of a Vertebrate Mini-Exon as an Exon-Intron-Exon Unit

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Polyoma virus small tumor antigen pre-mRNA splicing requires cooperation between two 3' splice sites

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

A single nucleotide polymorphism in an exon dictates allele dependent differential splicing of episialin mRNA.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

mRNA surveillance by the Caenorhabditis elegans smg genes

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Automated DNA sequencing of the human HPRT locus

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Human HPRT mutant database: software for data entry and retrieval

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

V(D)J recombinase-mediated deletion of the hprt gene in T-lymphocytes from adult humans

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Spectrum of spontaneous HPRT- mutations in TK6 human lymphoblasts

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Mutagenic processing of psoralen monoadducts differ in normal and Fanconi anemia cells

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Spectrum of X-ray-induced mutations in the human hprt gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Mutation specificity of 8-methoxypsoralen plus two doses of UVA irradiation in the hprt gene in diploid human fibroblasts.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Molecular analysis of ethylene oxide-induced mutations at the HPRT locus in human diploid fibroblasts.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Molecular analysis of mutations affecting hprt mRNA splicing in human T-lymphocytes in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Spontaneous mutation spectrum in the hprt gene in human lymphoblastoid TK6 cells

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Large deletions partially external to the human hprt gene result in chimeric transcripts

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Oncogenic conversion of transcription factors by chromosomal translocations

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Low hprt mRNA levels and multiple hprt mRNA species in 6-thioguanine-resistant Chinese hamster cell mutants possessing nonsense mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Defective splicing induced by 4NQO in the hamster hprt gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Spectrum of spontaneously occurring mutations in the hprt gene of V79 Chinese hamster cells

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

Genomic DNA sequencing of mRNA splicing mutants in the hprt gene of chinese hamster ovary cells

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2898%2900013-1

7 January 2021

10.1016/S1383-5742(98)00013-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9804951%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9804951%20AND%20SRC:MED&resulttype=core&format=json