259 related articles for article (PubMed ID: 16357104)
1. 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]
2. 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]
3. 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]
4. 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]
5. A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families.
Stella A; Wagner A; Shito K; Lipkin SM; Watson P; Guanti G; Lynch HT; Fodde R; Liu B
Cancer Res; 2001 Oct; 61(19):7020-4. PubMed ID: 11585727
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
Zatkova A; Messiaen L; Vandenbroucke I; Wieser R; Fonatsch C; Krainer AR; Wimmer K
Hum Mutat; 2004 Dec; 24(6):491-501. PubMed ID: 15523642
[TBL] [Abstract][Full Text] [Related]
10. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.
Liu HX; Cartegni L; Zhang MQ; Krainer AR
Nat Genet; 2001 Jan; 27(1):55-8. PubMed ID: 11137998
[TBL] [Abstract][Full Text] [Related]
11. Missense and nonsense mutations in codon 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds.
Nyström-Lahti M; Holmberg M; Fidalgo P; Salovaara R; de la Chapelle A; Jiricny J; Peltomäki P
Genes Chromosomes Cancer; 1999 Dec; 26(4):372-5. PubMed ID: 10534773
[TBL] [Abstract][Full Text] [Related]
12. A 'nonsense' mutation leads to aberrant splicing of hMLH1 in a German hereditary non-polyposis colorectal cancer family.
Baehring J; Sutter C; Kadmon M; Doeberitz MV; Gebert J
Fam Cancer; 2006; 5(2):195-9. PubMed ID: 16736291
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Missense mutations in cancer suppressor gene TP53 are colocalized with exonic splicing enhancers (ESEs).
Gorlov IP; Gorlova OY; Frazier ML; Amos CI
Mutat Res; 2004 Oct; 554(1-2):175-83. PubMed ID: 15450416
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes.
Jakubowska A; Górski B; Kurzawski G; Debniak T; Hadaczek P; Cybulski C; Kladny J; Oszurek O; Scott RJ; Lubinski J
Hum Mutat; 2001; 17(1):52-60. PubMed ID: 11139242
[TBL] [Abstract][Full Text] [Related]
17. Pathological exon skipping in an HNPCC proband with MLH1 splice acceptor site mutation.
Clarke LA; Veiga I; Isidro G; Jordan P; Ramos JS; Castedo S; Boavida MG
Genes Chromosomes Cancer; 2000 Dec; 29(4):367-70. PubMed ID: 11066084
[TBL] [Abstract][Full Text] [Related]
18. [The analysis for mRNA mutation of MLH1, MSH2 genes and the gene diagnosis for hereditary nonpolyposis colorectal cancer].
Wang CF; Zhou XY; Zhang TM; Sun MH; Xu Y; Shi DR
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Feb; 23(1):32-6. PubMed ID: 16456782
[TBL] [Abstract][Full Text] [Related]
19. Listening to silence and understanding nonsense: exonic mutations that affect splicing.
Cartegni L; Chew SL; Krainer AR
Nat Rev Genet; 2002 Apr; 3(4):285-98. PubMed ID: 11967553
[TBL] [Abstract][Full Text] [Related]
20. An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.
Disset A; Bourgeois CF; Benmalek N; Claustres M; Stevenin J; Tuffery-Giraud S
Hum Mol Genet; 2006 Mar; 15(6):999-1013. PubMed ID: 16461336
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
