Literature DB >> 15168696

Genomic variants in exons and introns: identifying the splicing spoilers.

Franco Pagani1, Francisco E Baralle.   

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Year:  2004        PMID： 15168696     DOI： 10.1038/nrg1327

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN： 1471-0056            Impact factor:   53.242


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  197 in total

1.  Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.

Authors:  Emmi Helle; Aldo Córdova-Palomera; Tiina Ojala; Priyanka Saha; Praneetha Potiny; Stefan Gustafsson; Erik Ingelsson; Michael Bamshad; Deborah Nickerson; Jessica X Chong; Euan Ashley; James R Priest
Journal:  Genet Epidemiol       Date:  2018-12-04       Impact factor: 2.135

2.  Identification of a fructose-1,6-bisphosphate aldolase gene and association of the single nucleotide polymorphisms with growth traits in the clam Meretrix meretrix.

Authors:  Chao Wang; Hongxia Wang; Yan Li; Baozhong Liu
Journal:  Mol Biol Rep       Date:  2011-12-08       Impact factor: 2.316

Review 3.  Argonaute and the nuclear RNAs: new pathways for RNA-mediated control of gene expression.

Authors:  Keith T Gagnon; David R Corey
Journal:  Nucleic Acid Ther       Date:  2012-01-27       Impact factor: 5.486

4.  WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.

Authors:  Katrin Friedrich; Lin Lee; Dru F Leistritz; Gudrun Nürnberg; Bidisha Saha; Fuki M Hisama; Daniel K Eyman; Davor Lessel; Peter Nürnberg; Chumei Li; María J Garcia-F-Villalta; Carolien M Kets; Joerg Schmidtke; Vítor Tedim Cruz; Peter C Van den Akker; Joseph Boak; Dincy Peter; Goli Compoginis; Kivanc Cefle; Sukru Ozturk; Norberto López; Theda Wessel; Martin Poot; P F Ippel; Birgit Groff-Kellermann; Holger Hoehn; George M Martin; Christian Kubisch; Junko Oshima
Journal:  Hum Genet       Date:  2010-05-05       Impact factor: 4.132

5.  Are Synonymous Sites in Primates and Rodents Functionally Constrained?

Authors:  Nicholas Price; Dan Graur
Journal:  J Mol Evol       Date:  2015-11-12       Impact factor: 2.395

Review 6.  Influence of RNA secondary structure on the pre-mRNA splicing process.

Authors:  Emanuele Buratti; Francisco E Baralle
Journal:  Mol Cell Biol       Date:  2004-12       Impact factor: 4.272

Review 7.  Splicing in action: assessing disease causing sequence changes.

Authors:  D Baralle; M Baralle
Journal:  J Med Genet       Date:  2005-10       Impact factor: 6.318

8.  ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis.

Authors:  Ulla Hodgson; Ville Pulkkinen; Morag Dixon; Myriam Peyrard-Janvid; Marko Rehn; Paivi Lahermo; Vesa Ollikainen; Kaisa Salmenkivi; Vuokko Kinnula; Juha Kere; Pentti Tukiainen; Tarja Laitinen
Journal:  Am J Hum Genet       Date:  2006-05-09       Impact factor: 11.025

9.  Sequence variations of the human MPDZ gene and association with alcoholism in subjects with European ancestry.

Authors:  Victor M Karpyak; Jeong-Hyun Kim; Joanna M Biernacka; Eric D Wieben; David A Mrazek; John L Black; Doo-Sup Choi
Journal:  Alcohol Clin Exp Res       Date:  2009-01-21       Impact factor: 3.455

10.  XRCC2 and XRCC3 gene polymorphism and risk of pancreatic cancer.

Authors:  Li Jiao; Manal M Hassan; Melissa L Bondy; Robert A Wolff; Douglas B Evans; James L Abbruzzese; Donghui Li
Journal:  Am J Gastroenterol       Date:  2007-11-06       Impact factor: 10.864
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