(Q39113625)

English

Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

scientific article published on 8 September 2006

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scholarly article

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Europe PubMed Central

PMC publication ID

9 September 2017

Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization (English)

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Europe PubMed Central

PMC publication ID

9 September 2017

author name string

Igor Vorechovský

1

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Europe PubMed Central

PMC publication ID

9 September 2017

language of work or name

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publication date

8 September 2006

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Europe PubMed Central

PMC publication ID

9 September 2017

Nucleic Acids Research

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Europe PubMed Central

PMC publication ID

9 September 2017

34

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Europe PubMed Central

PMC publication ID

9 September 2017

16

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Europe PubMed Central

PMC publication ID

9 September 2017

4630-4641

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Europe PubMed Central

PMC publication ID

9 September 2017

describes a project that uses

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Europe PubMed Central

26 June 2022

https://europepmc.org/article/PMC/PMC1636351

based on heuristic

inferred from PubMed Central ID database lookup

Structural basis for polypyrimidine tract recognition by the essential pre-mRNA splicing factor U2AF65.

1 reference

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RS domains contact splicing signals and promote splicing by a common mechanism in yeast through humans

1 reference

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Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing

1 reference

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Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa

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Characterization and prediction of alternative splice sites

1 reference

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Biased exon/intron distribution of cryptic and de novo 3' splice sites

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Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries.

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Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity

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21 August 2018

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Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636351

21 August 2018

Inhibition of msl-2 splicing by Sex-lethal reveals interaction between U2AF35 and the 3' splice site AG.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636351

21 August 2018

A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636351

21 August 2018

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636351

21 August 2018

Single base-pair substitutions in pathology and evolution: two sides to the same coin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636351

21 August 2018

A mutational analysis of the polypyrimidine tract of introns. Effects of sequence differences in pyrimidine tracts on splicing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636351

21 August 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKL535

21 January 2018

Autoimmune Regulator-1 Messenger Ribonucleic Acid Analysis in a Novel Intronic Mutation and Two Additional NovelAIREGene Mutations in a Cohort of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKL535

21 January 2018

Diffusion mechanisms in metallic supercooled liquids and glasses

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKL535

21 January 2018

Evidence for an essential non-Watson–Crick interaction between the first and last nucleotides of a nuclear pre-mRNA intron

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKL535

21 January 2018

Branch site haplotypes that control alternative splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human-mouse comparative analysis reveals that branch-site plasticity contributes to splicing regulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RNA splicing promotes translation and RNA surveillance

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: exon skipping and one base insertion

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and characterization of -3c-g acceptor splice site mutation in human α- l-iduronidase associated with mucopolysaccharidosis type IH/S

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel p53 splice site mutations in three families with Li-Fraumeni syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

p53 intronic point mutation, aberrant splicing and telomeric associations in a case of B-chronic lymphocytic leukaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A 3′ splice site consensus sequence mutation in the intron 3 of the α-galactosidase a gene in a patient with Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome)

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interaction of U2AF65 RS region with pre-mRNA branch point and promotion of base pairing with U2 snRNA [corrected]

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of the mammalian branchpoint sequence in pre-mRNA splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel acceptor splice site mutation in the invariant AG of intron 6 of alpha-galactosidase A gene, causing Fabry disease. Mutations in brief no. 146. Online

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan

1 reference

https://pubmed.ncbi.nlm.nih.gov/16963498

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/NAR/GKL535

1 reference

Europe PubMed Central

PMC publication ID

9 September 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

9 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

9 September 2017

ResearchGate publication ID

0 references

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