Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing (Q24540533)

6 July 2017

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

1 reference

single-nucleotide polymorphism

6 July 2017

1 reference

based on heuristic

inferred from title

alternative mRNA splicing, via spliceosome

1 reference

2

1 reference

6 July 2017

5

1 reference

6 July 2017

8

Matthias Platzer

1 reference

6 July 2017

7

Rolf Backofen

1 reference

6 July 2017

6

Stefan Schreiber

1 reference

6 July 2017

Michael Hiller

1

1 reference

6 July 2017

Niels Jahn

series ordinal

4

1 reference

6 July 2017

Karol Szafranski

series ordinal

3

1 reference

6 July 2017

language of work or name

English

0 references

publication date

22 December 2005

1 reference

American Journal of Human Genetics

6 July 2017

1 reference

6 July 2017

78

1 reference

6 July 2017

291-302

1 reference

6 July 2017

2

1 reference

Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence

6 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

Insights into the ubiquitin transfer cascade from the structure of the activating enzyme for NEDD8

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

Are splicing mutations the most frequent cause of hereditary disease?

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

Sarcoidosis is associated with a truncating splice site mutation in BTNL2.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

APP induces neuronal apoptosis through APP-BP1-mediated downregulation of beta-catenin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

Genomic variants in exons and introns: identifying the splicing spoilers

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

DNA sequence and comparative analysis of chimpanzee chromosome 22.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) pharmacogenetics: gene resequencing, genetic polymorphisms and functional characterization of variant allozymes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

A CD45 polymorphism associated with multiple sclerosis disrupts an exonic splicing silencer

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

Multiple distinct splicing enhancers in the protein-coding sequences of a constitutively spliced pre-mRNA.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

Mutation in the tau gene in familial multiple system tauopathy with presenile dementia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

Truncated WT1 mutants alter the subnuclear localization of the wild-type protein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

Two alternatively spliced forms of the human insulin-like growth factor I receptor have distinct biological activities and internalization kinetics

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

Effect of genotype on the levels of surfactant protein A mRNA and on the SP-A2 splice variants in adult humans

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

Frequent occurrence of protein isoforms with or without a single amino acid residue by subtle alternative splicing: the case of Gln in DRPLA affects subcellular localization of the products

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

Alternative splicing in disease and therapy

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

The impact of SNP density on fine-scale patterns of linkage disequilibrium

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

An alternative-exon database and its statistical analysis.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380236

Association of intron phases with conservation at splice site sequences and evolution of spliceosomal introns

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16400609

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/500151

1 reference

release_dxl7ilcbavaypiicx5vwsz4uuy

6 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/dxl7ilcbavaypiicx5vwsz4uuy

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

1380236

1 reference

6 July 2017

1 reference