Literature DB >> 9311728

The regulation of splice-site selection, and its role in human disease.

T A Cooper1, W Mattox.   

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Year:  1997        PMID: 9311728      PMCID: PMC1715899          DOI: 10.1086/514856

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


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  70 in total

Review 1.  SR proteins and splicing control.

Authors:  J L Manley; R Tacke
Journal:  Genes Dev       Date:  1996-07-01       Impact factor: 11.361

Review 2.  Initial splice-site recognition and pairing during pre-mRNA splicing.

Authors:  R Reed
Journal:  Curr Opin Genet Dev       Date:  1996-04       Impact factor: 5.578

3.  A complex of nuclear proteins mediates SR protein binding to a purine-rich splicing enhancer.

Authors:  J M Yeakley; J P Morfin; M G Rosenfeld; X D Fu
Journal:  Proc Natl Acad Sci U S A       Date:  1996-07-23       Impact factor: 11.205

4.  The polyadenylation factor CstF-64 regulates alternative processing of IgM heavy chain pre-mRNA during B cell differentiation.

Authors:  Y Takagaki; R L Seipelt; M L Peterson; J L Manley
Journal:  Cell       Date:  1996-11-29       Impact factor: 41.582

5.  Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.

Authors:  Y Jin; H C Dietz; R A Montgomery; W R Bell; I McIntosh; B Coller; P F Bray
Journal:  J Clin Invest       Date:  1996-10-15       Impact factor: 14.808

6.  Muscle-specific splicing enhancers regulate inclusion of the cardiac troponin T alternative exon in embryonic skeletal muscle.

Authors:  K J Ryan; T A Cooper
Journal:  Mol Cell Biol       Date:  1996-08       Impact factor: 4.272

7.  Repair of thalassemic human beta-globin mRNA in mammalian cells by antisense oligonucleotides.

Authors:  H Sierakowska; M J Sambade; S Agrawal; R Kole
Journal:  Proc Natl Acad Sci U S A       Date:  1996-11-12       Impact factor: 11.205

8.  The mammalian homolog of suppressor-of-white-apricot regulates alternative mRNA splicing of CD45 exon 4 and fibronectin IIICS.

Authors:  M Sarkissian; A Winne; R Lafyatis
Journal:  J Biol Chem       Date:  1996-12-06       Impact factor: 5.157

9.  Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.

Authors:  I Santisteban; F X Arredondo-Vega; S Kelly; M Loubser; N Meydan; C Roifman; P L Howell; T Bowen; K I Weinberg; M L Schroeder
Journal:  Hum Mol Genet       Date:  1995-11       Impact factor: 6.150

10.  Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3.

Authors:  D H Llewellyn; G A Scobie; A J Urquhart; S D Whatley; A G Roberts; P R Harrison; G H Elder
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

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  61 in total

1.  A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping.

Authors:  M B Coulter-Mackie
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

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

Authors:  E Stickeler; S D Fraser; A Honig; A L Chen; S M Berget; T A Cooper
Journal:  EMBO J       Date:  2001-07-16       Impact factor: 11.598

3.  Global analysis of ATM polymorphism reveals significant functional constraint.

Authors:  Y R Thorstenson; P Shen; V G Tusher; T L Wayne; R W Davis; G Chu; P J Oefner
Journal:  Am J Hum Genet       Date:  2001-07-03       Impact factor: 11.025

Review 4.  RNA-protein interactions that regulate pre-mRNA splicing.

Authors:  Ravinder Singh
Journal:  Gene Expr       Date:  2002

5.  Trans-acting factors required for inclusion of regulated exons in the Ultrabithorax mRNAs of Drosophila melanogaster.

Authors:  J M Burnette; A R Hatton; A J Lopez
Journal:  Genetics       Date:  1999-04       Impact factor: 4.562

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

Authors:  Y Hofmann; C L Lorson; S Stamm; E J Androphy; B Wirth
Journal:  Proc Natl Acad Sci U S A       Date:  2000-08-15       Impact factor: 11.205

7.  Dual utilization of an acceptor/donor splice site governs the alternative splicing of the IRF-3 gene.

Authors:  A Y Karpova; P M Howley; L V Ronco
Journal:  Genes Dev       Date:  2000-11-15       Impact factor: 11.361

8.  PSKH1, a novel splice factor compartment-associated serine kinase.

Authors:  Gaute Brede; Jorun Solheim; Hans Prydz
Journal:  Nucleic Acids Res       Date:  2002-12-01       Impact factor: 16.971

9.  Conserved sequence elements associated with exon skipping.

Authors:  Elana Miriami; Hanah Margalit; Ruth Sperling
Journal:  Nucleic Acids Res       Date:  2003-04-01       Impact factor: 16.971

10.  Alternative splicing of transcripts of the transposon Restless is maintained in the foreign host Neurospora crassa and can be modified by introducing mutations at the 5' and 3' splice sites.

Authors:  Frank Kempken; Frank Windhofer
Journal:  Curr Genet       Date:  2004-05-18       Impact factor: 3.886

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