187 related articles for article (PubMed ID: 12915465)
1. Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model.
Yang Y; Swaminathan S; Martin BK; Sharan SK
Hum Mol Genet; 2003 Sep; 12(17):2121-31. PubMed ID: 12915465
[TBL] [Abstract][Full Text] [Related]
2. Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.
Aretz S; Uhlhaas S; Sun Y; Pagenstecher C; Mangold E; Caspari R; Möslein G; Schulmann K; Propping P; Friedl W
Hum Mutat; 2004 Nov; 24(5):370-80. PubMed ID: 15459959
[TBL] [Abstract][Full Text] [Related]
3. The effect of disease-associated HRPT2 mutations on splicing.
Hahn MA; McDonnell J; Marsh DJ
J Endocrinol; 2009 Jun; 201(3):387-96. PubMed ID: 19332451
[TBL] [Abstract][Full Text] [Related]
4. Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression.
Chen X; Truong TT; Weaver J; Bove BA; Cattie K; Armstrong BA; Daly MB; Godwin AK
Hum Mutat; 2006 May; 27(5):427-35. PubMed ID: 16619214
[TBL] [Abstract][Full Text] [Related]
5. RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain.
Campos B; Díez O; Domènech M; Baena M; Balmaña J; Sanz J; Ramírez A; Alonso C; Baiget M
Hum Mutat; 2003 Oct; 22(4):337. PubMed ID: 12955719
[TBL] [Abstract][Full Text] [Related]
6. Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms.
Pettigrew C; Wayte N; Lovelock PK; Tavtigian SV; Chenevix-Trench G; Spurdle AB; Brown MA
Breast Cancer Res; 2005; 7(6):R929-39. PubMed ID: 16280041
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.
Wimmer K; Roca X; Beiglböck H; Callens T; Etzler J; Rao AR; Krainer AR; Fonatsch C; Messiaen L
Hum Mutat; 2007 Jun; 28(6):599-612. PubMed ID: 17311297
[TBL] [Abstract][Full Text] [Related]
9. Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.
Raponi M; Kralovicova J; Copson E; Divina P; Eccles D; Johnson P; Baralle D; Vorechovsky I
Hum Mutat; 2011 Apr; 32(4):436-44. PubMed ID: 21309043
[TBL] [Abstract][Full Text] [Related]
10. A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene.
Nakamura K; Fukao T; Perez-Cerda C; Luque C; Song XQ; Naiki Y; Kohno Y; Ugarte M; Kondo N
Mol Genet Metab; 2001 Feb; 72(2):115-21. PubMed ID: 11161837
[TBL] [Abstract][Full Text] [Related]
11. The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript.
Vega A; Campos B; Bressac-De-Paillerets B; Bond PM; Janin N; Douglas FS; Domènech M; Baena M; Pericay C; Alonso C; Carracedo A; Baiget M; Diez O
Hum Mutat; 2001 Jun; 17(6):520-1. PubMed ID: 11385711
[TBL] [Abstract][Full Text] [Related]
12. Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.
Anczuków O; Buisson M; Salles MJ; Triboulet S; Longy M; Lidereau R; Sinilnikova OM; Mazoyer S
Genes Chromosomes Cancer; 2008 May; 47(5):418-26. PubMed ID: 18273839
[TBL] [Abstract][Full Text] [Related]
13. ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEs.
Shotelersuk V; Desudchit T; Tongkobpetch S
Int J Mol Med; 2004 Oct; 14(4):683-9. PubMed ID: 15375602
[TBL] [Abstract][Full Text] [Related]
14. The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles.
Steiner B; Truninger K; Sanz J; Schaller A; Gallati S
Hum Mutat; 2004 Aug; 24(2):120-9. PubMed ID: 15241793
[TBL] [Abstract][Full Text] [Related]
15. The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.
Gaildrat P; Krieger S; Théry JC; Killian A; Rousselin A; Berthet P; Frébourg T; Hardouin A; Martins A; Tosi M
J Med Genet; 2010 Jun; 47(6):398-403. PubMed ID: 20522429
[TBL] [Abstract][Full Text] [Related]
16. A missense mutation in the APC tumor suppressor gene disrupts an ASF/SF2 splicing enhancer motif and causes pathogenic skipping of exon 14.
Gonçalves V; Theisen P; Antunes O; Medeira A; Ramos JS; Jordan P; Isidro G
Mutat Res; 2009 Mar; 662(1-2):33-6. PubMed ID: 19111562
[TBL] [Abstract][Full Text] [Related]
17. BRCA1 IVS16+6T-->C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor site.
Scholl T; Pyne MT; Russo D; Ward BE
Am J Med Genet; 1999 Jul; 85(2):113-6. PubMed ID: 10406662
[TBL] [Abstract][Full Text] [Related]
18. Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.
Mucaki EJ; Ainsworth P; Rogan PK
Hum Mutat; 2011 Jul; 32(7):735-42. PubMed ID: 21523855
[TBL] [Abstract][Full Text] [Related]
19. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
20. The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding.
Millevoi S; Bernat S; Telly D; Fouque F; Gladieff L; Favre G; Vagner S; Toulas C
Breast Cancer Res Treat; 2010 Apr; 120(2):391-9. PubMed ID: 19404736
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
