Literature DB >> 12843337

Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers.

A S Ramalho1, S Beck, D Penque, T Gonska, H H Seydewitz, M Mall, M D Amaral.   

Abstract

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Year:  2003        PMID： 12843337      PMCID： PMC1735516          DOI： 10.1136/jmg.40.7.e88

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  14 in total

1.  Application of multiplex ARMS and SSCP/HD analysis in molecular diagnosis of cystic fibrosis in Indian patients.

Authors:  Tester F Ashavaid; Altaf A Kondkar; Alpa J Dherai; Rani Raghavan; Soonu V Udani; Zarir F Udwadia; Devendra Desai
Journal:  Mol Diagn       Date:  2005

2.  A survey of splice variants of the human hypoxanthine phosphoribosyl transferase and DNA polymerase beta genes: products of alternative or aberrant splicing?

Authors:  Adonis Skandalis; Elke Uribe
Journal:  Nucleic Acids Res       Date:  2004-12-15       Impact factor: 16.971

Review 3.  Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Authors:  C Castellani; H Cuppens; M Macek; J J Cassiman; E Kerem; P Durie; E Tullis; B M Assael; C Bombieri; A Brown; T Casals; M Claustres; G R Cutting; E Dequeker; J Dodge; I Doull; P Farrell; C Ferec; E Girodon; M Johannesson; B Kerem; M Knowles; A Munck; P F Pignatti; D Radojkovic; P Rizzotti; M Schwarz; M Stuhrmann; M Tzetis; J Zielenski; J S Elborn
Journal:  J Cyst Fibros       Date:  2008-05       Impact factor: 5.482

Review 4.  The missing puzzle piece: splicing mutations.

Authors:  Marzena A Lewandowska
Journal:  Int J Clin Exp Pathol       Date:  2013-11-15

5.  Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation.

Authors:  Malka Nissim-Rafinia; Micha Aviram; Scott H Randell; Liat Shushi; Efrat Ozeri; Ornit Chiba-Falek; Ofer Eidelman; Harvey B Pollard; James R Yankaskas; Batsheva Kerem
Journal:  EMBO Rep       Date:  2004-11       Impact factor: 8.807

6.  CAGI experiments: Modeling sequence variant impact on gene splicing using predictions from computational tools.

Authors:  Valer Gotea; Gennady Margolin; Laura Elnitski
Journal:  Hum Mutat       Date:  2019-06-27       Impact factor: 4.700

Review 7.  Splicing mutations in human genetic disorders: examples, detection, and confirmation.

Authors:  Abramowicz Anna; Gos Monika
Journal:  J Appl Genet       Date:  2018-04-21       Impact factor: 3.240

8.  Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight.

Authors:  Mark T W Ebbert; Tanner D Jensen; Karen Jansen-West; Jonathon P Sens; Joseph S Reddy; Perry G Ridge; John S K Kauwe; Veronique Belzil; Luc Pregent; Minerva M Carrasquillo; Dirk Keene; Eric Larson; Paul Crane; Yan W Asmann; Nilufer Ertekin-Taner; Steven G Younkin; Owen A Ross; Rosa Rademakers; Leonard Petrucelli; John D Fryer
Journal:  Genome Biol       Date:  2019-05-20       Impact factor: 13.583

9.  Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka.

Authors:  Neluwa Liyanage Ruwan Indika; Dinesha Maduri Vidanapathirana; Hewa Warawitage Dilanthi; Grace Angeline Malarnangai Kularatnam; Nambage Dona Priyani Dhammika Chandrasiri; Eresha Jasinge
Journal:  BMC Med Genet       Date:  2019-05-24       Impact factor: 2.103

10.  Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Authors:  Patrick R Sosnay; Karen R Siklosi; Fredrick Van Goor; Kyle Kaniecki; Haihui Yu; Neeraj Sharma; Anabela S Ramalho; Margarida D Amaral; Ruslan Dorfman; Julian Zielenski; David L Masica; Rachel Karchin; Linda Millen; Philip J Thomas; George P Patrinos; Mary Corey; Michelle H Lewis; Johanna M Rommens; Carlo Castellani; Christopher M Penland; Garry R Cutting
Journal:  Nat Genet       Date:  2013-08-25       Impact factor: 38.330
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