(Q42430246)

English

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

scientific article published on 18 June 2007

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scholarly article

1 reference

Europe PubMed Central

31 October 2017

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization (English)

1 reference

Europe PubMed Central

31 October 2017

Emanuele Buratti

1

1 reference

Europe PubMed Central

31 October 2017

Maurizio Romano

4

1 reference

Europe PubMed Central

31 October 2017

Adrian Robert Krainer

6

object named as

Adrian R Krainer

1 reference

Europe PubMed Central

31 October 2017

author name string

Martin Chivers

2

1 reference

Europe PubMed Central

31 October 2017

Jana Královicová

3

1 reference

Europe PubMed Central

31 October 2017

Marco Baralle

5

1 reference

Europe PubMed Central

31 October 2017

Igor Vorechovsky

7

1 reference

Europe PubMed Central

31 October 2017

publication date

18 June 2007

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Europe PubMed Central

31 October 2017

number of pages

14

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inferred from page(s)

Nucleic Acids Research

1 reference

Europe PubMed Central

31 October 2017

35

1 reference

Europe PubMed Central

31 October 2017

13

1 reference

Europe PubMed Central

31 October 2017

4250-4263

1 reference

Europe PubMed Central

31 October 2017

describes a project that uses

1 reference

Europe PubMed Central

26 June 2022

https://europepmc.org/article/PMC/PMC1934990

based on heuristic

inferred from PubMed Central ID database lookup

Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes.

1 reference

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Genomic splice-site analysis reveals frequent alternative splicing close to the dominant splice site.

1 reference

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

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Defective splicing, disease and therapy: searching for master checkpoints in exon definition.

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General and specific functions of exonic splicing silencers in splicing control

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Cryptic splice site usage in exon 7 of the human fibrinogen Bbeta-chain gene is regulated by a naturally silent SF2/ASF binding site within this exon

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Splicing in action: assessing disease causing sequence changes

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Extended base pair complementarity between U1 snRNA and the 5' splice site does not inhibit splicing in higher eukaryotes, but rather increases 5' splice site recognition

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DINAMelt web server for nucleic acid melting prediction

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Determinants of the inherent strength of human 5' splice sites

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Influence of RNA secondary structure on the pre-mRNA splicing process

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How did alternative splicing evolve?

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hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes

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Genomic variants in exons and introns: identifying the splicing spoilers

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Computational definition of sequence motifs governing constitutive exon splicing.

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Comparative analysis detects dependencies among the 5' splice-site positions

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Minimal conditions for exonization of intronic sequences: 5' splice site formation in alu exons

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A novel approach to describe a U1 snRNA binding site.

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Intrinsic differences between authentic and cryptic 5' splice sites

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Efficient use of a 'dead-end' GA 5' splice site in the human fibroblast growth factor receptor genes

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Predictive identification of exonic splicing enhancers in human genes

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Listening to silence and understanding nonsense: exonic mutations that affect splicing

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Defining a 5' splice site by functional selection in the presence and absence of U1 snRNA 5' end.

1 reference

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28 May 2018

Splicing regulation as a potential genetic modifier

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Activation of a cryptic 5' splice site by U1 snRNA

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A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria

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SpliceDB: database of canonical and non-canonical mammalian splice sites

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Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia

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A tertiary interaction detected in a human U2-U6 snRNA complex assembled in vitro resembles a genetically proven interaction in yeast

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Positional characterisation of false positives from computational prediction of human splice sites

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Characterization of U6 snRNA-protein interactions

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Allele-specific genetic interactions between Prp8 and RNA active site residues suggest a function for Prp8 at the catalytic core of the spliceosome.

1 reference

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Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

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The regulation of splice-site selection, and its role in human disease

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Prediction of complete gene structures in human genomic DNA

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Mutations associated with variant phenotypes in ataxia-telangiectasia

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U1 snRNA promotes the selection of nearby 5' splice sites by U6 snRNA in mammalian cells

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Pathways for selection of 5' splice sites by U1 snRNPs and SF2/ASF.

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Suppression of mammalian 5' splice-site defects by U1 small nuclear RNAs from a distance

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Interactions between the terminal bases of mammalian introns are retained in inosine-containing pre-mRNAs

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1 reference

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1 reference

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12 December 2020

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inferred from PubMed ID database lookup

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1 reference

https://pubmed.ncbi.nlm.nih.gov/17576681

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Involvement of U6 snRNA in 5' splice site selection

1 reference

https://pubmed.ncbi.nlm.nih.gov/17576681

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

https://pubmed.ncbi.nlm.nih.gov/17576681

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

https://pubmed.ncbi.nlm.nih.gov/17576681

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

https://pubmed.ncbi.nlm.nih.gov/17576681

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

https://pubmed.ncbi.nlm.nih.gov/17576681

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inferred from PubMed ID database lookup

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1 reference

https://pubmed.ncbi.nlm.nih.gov/17576681

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17576681

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A U6 snRNA:pre-mRNA interaction can be rate-limiting for U1-independent splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/17576681

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1

1 reference

https://pubmed.ncbi.nlm.nih.gov/17576681

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal RNA splicing causes one form of alpha thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17576681

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A point mutation in the conserved hexanucleotide at a yeast 5' splice junction uncouples recognition, cleavage, and ligation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17576681

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

https://pubmed.ncbi.nlm.nih.gov/17576681

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

https://pubmed.ncbi.nlm.nih.gov/17576681

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/NAR/GKM402

1 reference

Europe PubMed Central

31 October 2017

1 reference

Europe PubMed Central

31 October 2017

1 reference

Europe PubMed Central

31 October 2017

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