(Q40725171)

23 September 2017

0 references

Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype (English)

1 reference

alternative mRNA splicing, via spliceosome

23 September 2017

1 reference

1 reference

4

Robert J Desnick

1 reference

23 September 2017

Satoshi Ishii

1

1 reference

23 September 2017

Shoichiro Nakao

series ordinal

2

1 reference

23 September 2017

Reiko Minamikawa-Tachino

series ordinal

3

1 reference

23 September 2017

Jian-Qiang Fan

series ordinal

5

1 reference

23 September 2017

language of work or name

English

0 references

publication date

4 February 2002

1 reference

American Journal of Human Genetics

23 September 2017

1 reference

23 September 2017

70

1 reference

23 September 2017

994-1002

1 reference

23 September 2017

4

1 reference

The RNA binding protein YB-1 binds A/C-rich exon enhancers and stimulates splicing of the CD44 alternative exon v4.

23 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

The SRm160/300 splicing coactivator is required for exon-enhancer function

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Two different sequence elements within exon 4 are necessary for calcitonin-specific splicing of the human calcitonin/calcitonin gene-related peptide I pre-mRNA.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Intrinsic U2AF binding is modulated by exon enhancer signals in parallel with changes in splicing activity

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

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

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Splicing of messenger RNA precursors

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Nucleotide sequence of the human alpha-galactosidase A gene

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Absolute mRNA quantification using the polymerase chain reaction (PCR). A novel approach by a PCR aided transcript titration assay (PATTY).

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

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

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

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

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Efficient selection for high-expression transfectants with a novel eukaryotic vector

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry disease

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Restricted accumulation of globotriaosylceramide in the hearts of atypical cases of Fabry's disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Regulation of doublesex pre-mRNA processing occurs by 3'-splice site activation.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Synergistic interactions between two distinct elements of a regulated splicing enhancer.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379133

Invariant exon skipping in the human α-galactosidase A pre-mRNA: A g+1 to t substitution in a 5′-splice site causing Fabry disease

4 November 2018

1 reference

12 December 2020

Quantitative analysis of dystrophin gene amplification products using a PC-based image analysis system

1 reference

12 December 2020

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

12 December 2020

Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA

1 reference

12 December 2020

Human alpha-galactosidase gene expression: significance of two peptide regions encoded by exons 1-2 and 6

1 reference

12 December 2020

An atypical variant of Fabry's disease in men with left ventricular hypertrophy

1 reference

12 December 2020

Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease

1 reference

12 December 2020

Two novel mutations in the alpha-galactosidase gene in Japanese classical hemizygotes with Fabry disease

1 reference

12 December 2020

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

12 December 2020

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

1 reference

12 December 2020

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

12 December 2020

Identifiers

DOI

10.1086/339431

1 reference

23 September 2017

1 reference

23 September 2017

1 reference