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Splicing regulation as a potential genetic modifier
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
11858835
retrieved
2 August 2017
review article
1 reference
stated in
Europe PubMed Central
title
Splicing regulation as a potential genetic modifier
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
11858835
retrieved
2 August 2017
author name string
Malka Nissim-Rafinia
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
11858835
retrieved
2 August 2017
Batsheva Kerem
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
11858835
retrieved
2 August 2017
publication date
1 March 2002
1 reference
stated in
Europe PubMed Central
PubMed ID
11858835
retrieved
2 August 2017
published in
Trends in Genetics
1 reference
stated in
Europe PubMed Central
PubMed ID
11858835
retrieved
2 August 2017
volume
18
1 reference
stated in
Europe PubMed Central
PubMed ID
11858835
retrieved
2 August 2017
page(s)
123-127
1 reference
stated in
Europe PubMed Central
PubMed ID
11858835
retrieved
2 August 2017
issue
3
1 reference
stated in
Europe PubMed Central
PubMed ID
11858835
retrieved
2 August 2017
cites work
Modifier genes in mice and humans
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7 January 2021
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Splicing of messenger RNA precursors
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Alternative splicing in the control of gene expression
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7 January 2021
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Pre-mRNA splicing in the new millennium
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7 January 2021
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Alternative pre-mRNA splicing: the logic of combinatorial control
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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences
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Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome
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Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
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The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation
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Testicular CFTR Splice Variants in Patients with Congenital Absence of the Vas Deferens
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Variable levels of normal RNA in different fetal organs carrying a cystic fibrosis transmembrane conductance regulator splicing mutation
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Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens.
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The association of nonsense codons with exon skipping
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7 January 2021
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Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy
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A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
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7 January 2021
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Differential SMN2 expression associated with SMA severity
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Alternative splicing: increasing diversity in the proteomic world
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7 January 2021
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Analysis of expressed sequence tags indicates 35,000 human genes
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Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17
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Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion
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Modification of alternative splicing pathways as a potential approach to chemotherapy
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7 January 2021
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Soluble CD44 isoforms in serum as potential markers of metastatic gastric carcinoma.
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Stage-specific changes in SR splicing factors and alternative splicing in mammary tumorigenesis
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7 January 2021
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Cell type-specific expression of hnRNP proteins
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Crossref
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7 January 2021
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Distinct functions of SR proteins in alternative pre-mRNA splicing.
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7 January 2021
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Regulation of alternative splicing in vivo by overexpression of antagonistic splicing factors
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7 January 2021
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Pre-mRNA splicing in the absence of an SR protein RS domain
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7 January 2021
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The subcellular localization of SF2/ASF is regulated by direct interaction with SR protein kinases (SRPKs)
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Nucleocytoplasmic shuttling of heterodimeric splicing factor U2AF
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7 January 2021
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The dynamics of a pre-mRNA splicing factor in living cells
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Crossref
reference URL
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7 January 2021
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Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations
1 reference
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Crossref
reference URL
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Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
1 reference
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Crossref
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Regulation of Ich-1 pre-mRNA alternative splicing and apoptosis by mammalian splicing factors
1 reference
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Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse
1 reference
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Crossref
reference URL
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7 January 2021
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Treatment of spinal muscular atrophy by sodium butyrate
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Effect of sodium butyrate on the expression of genes transduced by retroviral vectors
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7 January 2021
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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
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7 January 2021
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1 reference
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Crossref
reference URL
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7 January 2021
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Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1
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7 January 2021
based on heuristic
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Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1
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7 January 2021
based on heuristic
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Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors
1 reference
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Crossref
reference URL
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7 January 2021
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Mild familial neurofibromatosis 2 associates with expression of merlin with altered COOH-terminus
1 reference
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Crossref
reference URL
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7 January 2021
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Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1
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7 January 2021
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Donor splice-site mutations in WT1 are responsible for Frasier syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1
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7 January 2021
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A BRCA1 nonsense mutation causes exon skipping
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1
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7 January 2021
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Expression of CD44 adhesion molecules in nonpapillary renal cell carcinoma and normal kidneys
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1
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7 January 2021
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1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1
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7 January 2021
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Alternative splicing of fibroblast growth factor receptors in human prostate cancer
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1
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7 January 2021
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Mechanism for elimination of a tumor suppressor: aberrant splicing of a brain-specific exon causes loss of function of Bin1 in melanoma.
1 reference
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Crossref
reference URL
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7 January 2021
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Identifiers
DOI
10.1016/S0168-9525(01)02619-1
1 reference
stated in
Europe PubMed Central
PubMed ID
11858835
retrieved
2 August 2017
PubMed ID
11858835
1 reference
stated in
Europe PubMed Central
PubMed ID
11858835
retrieved
2 August 2017
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