Literature DB >> 17716673

Downstream intronic splicing enhancers.

Julian P Venables1.   

Abstract

Alternative splicing leads to multiple proteins from individual genes and the most common deviation from the norm is precise exon omission. Mutations that cause this can be found deep in introns, especially downstream of the cassette exon. This review summarises what is known about these intronic splicing enhancers and their RNA-binding proteins that cause spliceosome assembly on the upstream exon.

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Year:  2007        PMID： 17716673     DOI： 10.1016/j.febslet.2007.08.012

Source DB:  PubMed          Journal:  FEBS Lett        ISSN： 0014-5793            Impact factor:   4.124


  15 in total

1.  Position-dependent splicing activation and repression by SR and hnRNP proteins rely on common mechanisms.

Authors:  Steffen Erkelenz; William F Mueller; Melanie S Evans; Anke Busch; Katrin Schöneweis; Klemens J Hertel; Heiner Schaal
Journal:  RNA       Date:  2012-11-21       Impact factor: 4.942

Review 2.  Function of alternative splicing.

Authors:  Olga Kelemen; Paolo Convertini; Zhaiyi Zhang; Yuan Wen; Manli Shen; Marina Falaleeva; Stefan Stamm
Journal:  Gene       Date:  2012-08-15       Impact factor: 3.688

3.  Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Authors:  Sandro Rossetti; Katharina Hopp; Robert A Sikkink; Jamie L Sundsbak; Yean Kit Lee; Vickie Kubly; Bruce W Eckloff; Christopher J Ward; Christopher G Winearls; Vicente E Torres; Peter C Harris
Journal:  J Am Soc Nephrol       Date:  2012-03-01       Impact factor: 10.121

4.  Cancer-associated regulation of alternative splicing.

Authors:  Julian P Venables; Roscoe Klinck; ChuShin Koh; Julien Gervais-Bird; Anne Bramard; Lyna Inkel; Mathieu Durand; Sonia Couture; Ulrike Froehlich; Elvy Lapointe; Jean-François Lucier; Philippe Thibault; Claudine Rancourt; Karine Tremblay; Panagiotis Prinos; Benoit Chabot; Sherif Abou Elela
Journal:  Nat Struct Mol Biol       Date:  2009-05-17       Impact factor: 15.369

5.  Genomic features defining exonic variants that modulate splicing.

Authors:  Adam Woolfe; James C Mullikin; Laura Elnitski
Journal:  Genome Biol       Date:  2010-02-16       Impact factor: 13.583

6.  Position-dependent alternative splicing activity revealed by global profiling of alternative splicing events regulated by PTB.

Authors:  Miriam Llorian; Schraga Schwartz; Tyson A Clark; Dror Hollander; Lit-Yeen Tan; Rachel Spellman; Adele Gordon; Anthony C Schweitzer; Pierre de la Grange; Gil Ast; Christopher W J Smith
Journal:  Nat Struct Mol Biol       Date:  2010-08-15       Impact factor: 15.369

7.  Functional selection and systematic analysis of intronic splicing elements identify active sequence motifs and associated splicing factors.

Authors:  Stephanie J Culler; Kevin G Hoff; Rodger B Voelker; J Andrew Berglund; Christina D Smolke
Journal:  Nucleic Acids Res       Date:  2010-04-12       Impact factor: 16.971

8.  Genetic variants in S-adenosyl-methionine synthesis pathway and nonsyndromic cleft lip with or without cleft palate in Chile.

Authors:  Carlos Salamanca; Patricio González-Hormazábal; Andrea S Recabarren; Pamela A Recabarren; Roberto Pantoja; Noemi Leiva; Rosa Pardo; José Suazo
Journal:  Pediatr Res       Date:  2020-06-03       Impact factor: 3.756

9.  The function of introns.

Authors:  Michal Chorev; Liran Carmel
Journal:  Front Genet       Date:  2012-04-13       Impact factor: 4.599

10.  Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12.

Authors:  Ariful Haque; Emanuele Buratti; Francisco E Baralle
Journal:  Nucleic Acids Res       Date:  2009-11-12       Impact factor: 16.971
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