4205 related articles for article (PubMed ID: 25525159)
1. RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
Xiong HY; Alipanahi B; Lee LJ; Bretschneider H; Merico D; Yuen RK; Hua Y; Gueroussov S; Najafabadi HS; Hughes TR; Morris Q; Barash Y; Krainer AR; Jojic N; Scherer SW; Blencowe BJ; Frey BJ
Science; 2015 Jan; 347(6218):1254806. PubMed ID: 25525159
[TBL] [Abstract][Full Text] [Related]
2. Genetic variation and alternative splicing.
Estivill X
Nat Biotechnol; 2015 Apr; 33(4):357-9. PubMed ID: 25850059
[No Abstract] [Full Text] [Related]
3. RNA. Prescribing splicing.
Guigó R; Valcárcel J
Science; 2015 Jan; 347(6218):124-5. PubMed ID: 25574005
[TBL] [Abstract][Full Text] [Related]
4. RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.
Sharp A; Pichert G; Lucassen A; Eccles D
Hum Mutat; 2004 Sep; 24(3):272. PubMed ID: 15300854
[TBL] [Abstract][Full Text] [Related]
5. Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.
Pagenstecher C; Wehner M; Friedl W; Rahner N; Aretz S; Friedrichs N; Sengteller M; Henn W; Buettner R; Propping P; Mangold E
Hum Genet; 2006 Mar; 119(1-2):9-22. PubMed ID: 16341550
[TBL] [Abstract][Full Text] [Related]
6. Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay.
Naruse H; Ikawa N; Yamaguchi K; Nakamura Y; Arai M; Ishioka C; Sugano K; Tamura K; Tomita N; Matsubara N; Yoshida T; Moriya Y; Furukawa Y
Fam Cancer; 2009; 8(4):509-17. PubMed ID: 19685281
[TBL] [Abstract][Full Text] [Related]
7. Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.
Betz B; Theiss S; Aktas M; Konermann C; Goecke TO; Möslein G; Schaal H; Royer-Pokora B
J Cancer Res Clin Oncol; 2010 Jan; 136(1):123-34. PubMed ID: 19669161
[TBL] [Abstract][Full Text] [Related]
8. Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
Soukarieh O; Gaildrat P; Hamieh M; Drouet A; Baert-Desurmont S; Frébourg T; Tosi M; Martins A
PLoS Genet; 2016 Jan; 12(1):e1005756. PubMed ID: 26761715
[TBL] [Abstract][Full Text] [Related]
9. In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
Lastella P; Surdo NC; Resta N; Guanti G; Stella A
BMC Genomics; 2006 Sep; 7():243. PubMed ID: 16995940
[TBL] [Abstract][Full Text] [Related]
10. Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
Auclair J; Busine MP; Navarro C; Ruano E; Montmain G; Desseigne F; Saurin JC; Lasset C; Bonadona V; Giraud S; Puisieux A; Wang Q
Hum Mutat; 2006 Feb; 27(2):145-54. PubMed ID: 16395668
[TBL] [Abstract][Full Text] [Related]
11. Identification of a splicing enhancer in MLH1 using COMPARE, a new assay for determination of relative RNA splicing efficiencies.
Xu DQ; Mattox W
Hum Mol Genet; 2006 Jan; 15(2):329-36. PubMed ID: 16357104
[TBL] [Abstract][Full Text] [Related]
12. A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
Tournier I; Vezain M; Martins A; Charbonnier F; Baert-Desurmont S; Olschwang S; Wang Q; Buisine MP; Soret J; Tazi J; Frébourg T; Tosi M
Hum Mutat; 2008 Dec; 29(12):1412-24. PubMed ID: 18561205
[TBL] [Abstract][Full Text] [Related]
13. Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.
Cartegni L; Hastings ML; Calarco JA; de Stanchina E; Krainer AR
Am J Hum Genet; 2006 Jan; 78(1):63-77. PubMed ID: 16385450
[TBL] [Abstract][Full Text] [Related]
14. Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.
Lee M; Roos P; Sharma N; Atalar M; Evans TA; Pellicore MJ; Davis E; Lam AN; Stanley SE; Khalil SE; Solomon GM; Walker D; Raraigh KS; Vecchio-Pagan B; Armanios M; Cutting GR
Am J Hum Genet; 2017 May; 100(5):751-765. PubMed ID: 28475858
[TBL] [Abstract][Full Text] [Related]
15. Computational analysis of splicing errors and mutations in human transcripts.
Kurmangaliyev YZ; Gelfand MS
BMC Genomics; 2008 Jan; 9():13. PubMed ID: 18194514
[TBL] [Abstract][Full Text] [Related]
16. Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family.
McVety S; Li L; Gordon PH; Chong G; Foulkes WD
J Med Genet; 2006 Feb; 43(2):153-6. PubMed ID: 15923275
[TBL] [Abstract][Full Text] [Related]
17. Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.
Nielsen KB; Sørensen S; Cartegni L; Corydon TJ; Doktor TK; Schroeder LD; Reinert LS; Elpeleg O; Krainer AR; Gregersen N; Kjems J; Andresen BS
Am J Hum Genet; 2007 Mar; 80(3):416-32. PubMed ID: 17273963
[TBL] [Abstract][Full Text] [Related]
18. Aberrant splicing caused by a MLH1 splice donor site mutation found in a young Japanese patient with Lynch syndrome.
Takahashi M; Furukawa Y; Shimodaira H; Sakayori M; Moriya T; Moriya Y; Nakamura Y; Ishioka C
Fam Cancer; 2012 Dec; 11(4):559-64. PubMed ID: 22766992
[TBL] [Abstract][Full Text] [Related]
19. An intronic mutation in MLH1 associated with familial colon and breast cancer.
Bianchi F; Raponi M; Piva F; Viel A; Bearzi I; Galizia E; Bracci R; Belvederesi L; Loretelli C; Brugiati C; Corradini F; Baralle D; Cellerino R
Fam Cancer; 2011 Mar; 10(1):27-35. PubMed ID: 20717847
[TBL] [Abstract][Full Text] [Related]
20. Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.
Petersen SM; Dandanell M; Rasmussen LJ; Gerdes AM; Krogh LN; Bernstein I; Okkels H; Wikman F; Nielsen FC; Hansen TV
BMC Med Genet; 2013 Oct; 14():103. PubMed ID: 24090359
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
