183 related articles for article (PubMed ID: 19111562)
21. 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]
22. The SR splicing factors ASF/SF2 and SC35 have antagonistic effects on intronic enhancer-dependent splicing of the beta-tropomyosin alternative exon 6A.
Gallego ME; Gattoni R; Stévenin J; Marie J; Expert-Bezançon A
EMBO J; 1997 Apr; 16(7):1772-84. PubMed ID: 9130721
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. [Familial adenomatous polyposis coli in the Czech population. I. Detection of an additional 3 mutations out of a total of 7 in exon 15 of the APC gene].
Jirásek V; Olschwang S; Boisson C; Janda J; Thomas G; Martásek P
Cas Lek Cesk; 1997 Dec; 136(23):733-8. PubMed ID: 9476377
[TBL] [Abstract][Full Text] [Related]
25. cis-Acting and trans-acting modulation of equine infectious anemia virus alternative RNA splicing.
Liao HJ; Baker CC; Princler GL; Derse D
Virology; 2004 May; 323(1):131-40. PubMed ID: 15165825
[TBL] [Abstract][Full Text] [Related]
26. Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer.
Ruiz-Ponte C; Vega A; Carracedo A; Barros F
Hum Mutat; 2001 Oct; 18(4):355. PubMed ID: 11668620
[TBL] [Abstract][Full Text] [Related]
27. Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
Gaildrat P; Krieger S; Di Giacomo D; Abdat J; Révillion F; Caputo S; Vaur D; Jamard E; Bohers E; Ledemeney D; Peyrat JP; Houdayer C; Rouleau E; Lidereau R; Frébourg T; Hardouin A; Tosi M; Martins A
J Med Genet; 2012 Oct; 49(10):609-17. PubMed ID: 22962691
[TBL] [Abstract][Full Text] [Related]
28. Detection of protein truncating mutations in exons 1-14 of the APC gene using an in vivo fusion protein assay. Mutations in brief no. 214. Online.
Andreutti-Zaugg C; Couturier A; Chappuis P; Hutter P
Hum Mutat; 1999; 13(2):170-1. PubMed ID: 10094557
[TBL] [Abstract][Full Text] [Related]
29. Antagonistic SR proteins regulate alternative splicing of tumor-related Rac1b downstream of the PI3-kinase and Wnt pathways.
Gonçalves V; Matos P; Jordan P
Hum Mol Genet; 2009 Oct; 18(19):3696-707. PubMed ID: 19602482
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.
Bonnet C; Krieger S; Vezain M; Rousselin A; Tournier I; Martins A; Berthet P; Chevrier A; Dugast C; Layet V; Rossi A; Lidereau R; Frébourg T; Hardouin A; Tosi M
J Med Genet; 2008 Jul; 45(7):438-46. PubMed ID: 18424508
[TBL] [Abstract][Full Text] [Related]
32. Evidence for a novel exon in the coding region of the adenomatous polyposis coli (APC) gene.
Xia L; St Denis KA; Bapat B
Genomics; 1995 Aug; 28(3):589-91. PubMed ID: 7490101
[TBL] [Abstract][Full Text] [Related]
33. Identification of a novel duplication in the APC gene using multiple ligation probe amplification in a patient with familial adenomatous polyposis.
Pedace L; Majore S; Megiorni F; Binni F; De Bernardo C; Antigoni I; Preziosi N; Mazzilli MC; Grammatico P
Cancer Genet Cytogenet; 2008 Apr; 182(2):130-5. PubMed ID: 18406876
[TBL] [Abstract][Full Text] [Related]
34. The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
Olsen RK; Brøner S; Sabaratnam R; Doktor TK; Andersen HS; Bruun GH; Gahrn B; Stenbroen V; Olpin SE; Dobbie A; Gregersen N; Andresen BS
Hum Mutat; 2014 Jan; 35(1):86-95. PubMed ID: 24123825
[TBL] [Abstract][Full Text] [Related]
35. An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.
Smith PJ; Zhang C; Wang J; Chew SL; Zhang MQ; Krainer AR
Hum Mol Genet; 2006 Aug; 15(16):2490-508. PubMed ID: 16825284
[TBL] [Abstract][Full Text] [Related]
36. Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Novel criteria of assessment and correlations with constitutional adenomatous polyposis coli gene mutations.
Valanzano R; Cama A; Volpe R; Curia MC; Mencucci R; Palmirotta R; Battista P; Ficari F; Mariani-Costantini R; Tonelli F
Cancer; 1996 Dec; 78(11):2400-10. PubMed ID: 8941012
[TBL] [Abstract][Full Text] [Related]
37. Promoter hypermethylation leads to decreased APC mRNA expression in familial polyposis and sporadic colorectal tumours, but does not substitute for truncating mutations.
Segditsas S; Sieber OM; Rowan A; Setien F; Neale K; Phillips RK; Ward R; Esteller M; Tomlinson IP
Exp Mol Pathol; 2008 Dec; 85(3):201-6. PubMed ID: 18977219
[TBL] [Abstract][Full Text] [Related]
38.
Disciglio V; Forte G; Fasano C; Sanese P; Lepore Signorile M; De Marco K; Grossi V; Cariola F; Simone C
Genes (Basel); 2021 Feb; 12(3):. PubMed ID: 33670833
[TBL] [Abstract][Full Text] [Related]
39. Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.
Heintz C; Dobrowolski SF; Andersen HS; Demirkol M; Blau N; Andresen BS
Mol Genet Metab; 2012 Aug; 106(4):403-11. PubMed ID: 22698810
[TBL] [Abstract][Full Text] [Related]
40. Tra2 beta, SF2/ASF and SRp30c modulate the function of an exonic splicing enhancer in exon 10 of tau pre-mRNA.
Kondo S; Yamamoto N; Murakami T; Okumura M; Mayeda A; Imaizumi K
Genes Cells; 2004 Feb; 9(2):121-30. PubMed ID: 15009090
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
