Splicing regulation as a potential genetic modifier (Q34540777)

2 August 2017

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title

Splicing regulation as a potential genetic modifier (English)

1 reference

2 August 2017

Malka Nissim-Rafinia

1

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PubMed ID

11858835

2 August 2017

Batsheva Kerem

series ordinal

2

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2 August 2017

1 March 2002

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2 August 2017

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2 August 2017

18

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2 August 2017

123-127

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2 August 2017

3

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Modifier genes in mice and humans

2 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Splicing of messenger RNA precursors

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Alternative splicing in the control of gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Pre-mRNA splicing in the new millennium

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Alternative pre-mRNA splicing: the logic of combinatorial control

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Testicular CFTR Splice Variants in Patients with Congenital Absence of the Vas Deferens

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Variable levels of normal RNA in different fetal organs carrying a cystic fibrosis transmembrane conductance regulator splicing mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

The association of nonsense codons with exon skipping

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Differential SMN2 expression associated with SMA severity

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Alternative splicing: increasing diversity in the proteomic world

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Analysis of expressed sequence tags indicates 35,000 human genes

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Modification of alternative splicing pathways as a potential approach to chemotherapy

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Soluble CD44 isoforms in serum as potential markers of metastatic gastric carcinoma.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Stage-specific changes in SR splicing factors and alternative splicing in mammary tumorigenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Cell type-specific expression of hnRNP proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Distinct functions of SR proteins in alternative pre-mRNA splicing.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Pre-mRNA splicing in the absence of an SR protein RS domain

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

The subcellular localization of SF2/ASF is regulated by direct interaction with SR protein kinases (SRPKs)

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Nucleocytoplasmic shuttling of heterodimeric splicing factor U2AF

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

The dynamics of a pre-mRNA splicing factor in living cells

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Regulation of Ich-1 pre-mRNA alternative splicing and apoptosis by mammalian splicing factors

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Treatment of spinal muscular atrophy by sodium butyrate

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Effect of sodium butyrate on the expression of genes transduced by retroviral vectors

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Mild familial neurofibromatosis 2 associates with expression of merlin with altered COOH-terminus

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

A BRCA1 nonsense mutation causes exon skipping

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Expression of CD44 adhesion molecules in nonpapillary renal cell carcinoma and normal kidneys

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

FHIT gene alterations in head and neck squamous cell carcinomas

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Alternative splicing of fibroblast growth factor receptors in human prostate cancer

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

Mechanism for elimination of a tumor suppressor: aberrant splicing of a brain-specific exon causes loss of function of Bin1 in melanoma.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902619-1

7 January 2021

10.1016/S0168-9525(01)02619-1

Identifiers

DOI

1 reference

2 August 2017

1 reference

PubMed ID

11858835