(Q24811113)

English

Exonization of AluYa5 in the human ACE gene requires mutations in both 3' and 5' splice sites and is facilitated by a conserved splicing enhancer.

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scholarly article

1 reference

Europe PubMed Central

4 July 2017

Exonization of AluYa5 in the human ACE gene requires mutations in both 3' and 5' splice sites and is facilitated by a conserved splicing enhancer. (English)

1 reference

Europe PubMed Central

4 July 2017

author name string

Haixin Lei

1

1 reference

Europe PubMed Central

4 July 2017

Ian N M Day

2

1 reference

Europe PubMed Central

4 July 2017

Igor Vorechovský

3

1 reference

Europe PubMed Central

4 July 2017

language of work or name

0 references

publication date

14 July 2005

1 reference

Europe PubMed Central

4 July 2017

Nucleic Acids Research

1 reference

Europe PubMed Central

4 July 2017

33

1 reference

Europe PubMed Central

4 July 2017

3897-3906

1 reference

Europe PubMed Central

4 July 2017

12

1 reference

Europe PubMed Central

4 July 2017

An upstream AG determines whether a downstream AG is selected during catalytic step II of splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

7 April 2017

Sorting out the complexity of SR protein functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

7 April 2017

Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

7 April 2017

The human splicing factors ASF/SF2 and SC35 possess distinct, functionally significant RNA binding specificities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

7 April 2017

A new regulatory protein, KSRP, mediates exon inclusion through an intronic splicing enhancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

7 April 2017

HnRNP L stimulates splicing of the eNOS gene by binding to variable-length CA repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

7 April 2017

Comprehensive proteomic analysis of the human spliceosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

7 April 2017

A purine-rich intronic element enhances alternative splicing of thyroid hormone receptor mRNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

7 April 2017

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

7 April 2017

Predictive identification of exonic splicing enhancers in human genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

7 April 2017

Systematic identification and analysis of exonic splicing silencers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Variation in sequence and organization of splicing regulatory elements in vertebrate genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Computational definition of sequence motifs governing constitutive exon splicing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Duplication, coclustering, and selection of human Alu retrotransposons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

RNA folding affects the recruitment of SR proteins by mouse and human polypurinic enhancer elements in the fibronectin EDA exon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Intrinsic differences between authentic and cryptic 5' splice sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Epistatic interaction between variations in the angiotensin I converting enzyme and angiotensin II type 1 receptor genes in relation to extent of coronary atherosclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Compensatory evolution of a precursor messenger RNA secondary structure in the Drosophila melanogaster Adh gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Angiotensin-converting enzyme gene polymorphism and carotid artery wall thickness: a meta-analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

The birth of an alternatively spliced exon: 3' splice-site selection in Alu exons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Active Alu element "A-tails": size does matter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Alu-containing exons are alternatively spliced

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Trans-ethnic fine mapping of a quantitative trait locus for circulating angiotensin I-converting enzyme (ACE).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

A polymorphic GT repeat from the human cardiac Na+Ca2+ exchanger intron 2 activates splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Protein diversity from alternative splicing: a challenge for bioinformatics and post-genome biology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Multiple splicing defects in an intronic false exon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Intron 16 insertion of the angiotensin converting enzyme gene and transcriptional regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Intron self-complementarity enforces exon inclusion in a yeast pre-mRNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

G triplets located throughout a class of small vertebrate introns enforce intron borders and regulate splice site selection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

The critical role of tissue angiotensin-converting enzyme as revealed by gene targeting in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Segregation and linkage analysis of serum angiotensin I-converting enzyme levels: evidence for two quantitative-trait loci.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Functional analysis of pre-mRNA splicing factor SF2/ASF structural domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Angiotensin I converting enzyme gene: regulation, polymorphism and implications in cardiovascular diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Familial resemblance of plasma angiotensin-converting enzyme level: the Nancy Study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

UACUAAC is the preferred branch site for mammalian mRNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

The essential pre-mRNA splicing factor SF2 influences 5' splice site selection by activating proximal sites.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Structure and variability of recently inserted Alu family members

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Recently transposed Alu repeats result from multiple source genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Molecular biology of the renin-angiotensin system: implications for hypertension and beyond

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

General splicing factors SF2 and SC35 have equivalent activities in vitro, and both affect alternative 5' and 3' splice site selection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Evidence, from combined segregation and linkage analysis, that a variant of the angiotensin I-converting enzyme (ACE) gene controls plasma ACE levels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 September 2017

Identification of splicing silencers and enhancers in sense Alus: a role for pseudoacceptors in splice site repression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

30 May 2018

Determinants of the inherent strength of human 5' splice sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

30 May 2018

Haplotypes extending across ACE are associated with Alzheimer's disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

30 May 2018

Mice lacking angiotensin-converting enzyme have low blood pressure, renal pathology, and reduced male fertility.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

30 May 2018

Standardized nomenclature for Alu repeats.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

30 May 2018

Alu sequences in the coding regions of mRNA: a source of protein variability.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

30 May 2018

A cladistic model of ACE sequence variation with implications for myocardial infarction, Alzheimer disease and obesity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 November 2018

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 November 2018

Angiotensin-1-converting enzyme (ACE) plasma concentration is influenced by multiple ACE-linked quantitative trait nucleotides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 November 2018

Mapping quantitative effects of oligogenes by allelic association.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 November 2018

Multiple cis elements regulate an alternative splicing event at 4.1R pre-mRNA during erythroid differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 November 2018

5' splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 November 2018

Sequence variation in the human angiotensin converting enzyme.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 November 2018

A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 November 2018

The age of Alu subfamilies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 November 2018

Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1175817

28 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16027113

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Angiotensin-converting enzyme gene polymorphism and cardiovascular endocrine system in coronary angiography patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/16027113

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Measured Haplotype Analysis of the Angiotensin-I Converting Enzyme Gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16027113

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Splice-Site Mutations in Atherosclerosis Candidate Genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/16027113

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Branch site haplotypes that control alternative splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/16027113

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneous nuclear ribonucleoprotein (hnRNP) K is a component of an intronic splicing enhancer complex that activates the splicing of the alternative exon 6A from chicken beta-tropomyosin pre-mRNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/16027113

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Large-scale test of hypothesised associations between the angiotensin-converting-enzyme insertion/deletion polymorphism and myocardial infarction in about 5000 cases and 6000 controls. International Studies of Infarct Survival (ISIS) Collaborators

1 reference

https://pubmed.ncbi.nlm.nih.gov/16027113

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

1 reference

https://pubmed.ncbi.nlm.nih.gov/16027113

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An intronic downstream enhancer promotes 3' splice site usage of a neural cell-specific exon

1 reference

https://pubmed.ncbi.nlm.nih.gov/16027113

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association of ACE I/D polymorphism with cardiovascular risk factors

1 reference

https://pubmed.ncbi.nlm.nih.gov/16027113

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High-resolution genetic mapping of the ACE-linked QTL influencing circulating ACE activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/16027113

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/NAR/GKI707

1 reference

Europe PubMed Central

4 July 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Europe PubMed Central

4 July 2017

ResearchGate publication ID

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