BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

175 related articles for article (PubMed ID: 15375602)

  • 1. 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]  

  • 2. 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]  

  • 3. PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping.
    Suphapeetiporn K; Kongkam P; Tantivatana J; Sinthuwiwat T; Tongkobpetch S; Shotelersuk V
    Jpn J Clin Oncol; 2006 Dec; 36(12):814-21. PubMed ID: 17043057
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.
    Draghia R; Letourneur F; Drugan C; Manicom J; Blanchot C; Kahn A; Poenaru L; Caillaud C
    Hum Mutat; 1997; 9(3):234-42. PubMed ID: 9090526
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene.
    Pastor-Soler NM; Rafi MA; Hoffman JD; Hu D; Wenger DA
    Hum Mutat; 1994; 4(3):199-207. PubMed ID: 7833949
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.
    Olkhovich NV; Takamura N; Pichkur NA; Gorovenko NG; Aoyagi K; Yamashita S
    Mol Genet Metab; 2003 Nov; 80(3):360-3. PubMed ID: 14680985
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy.
    Kang DH; Lee DH; Hong YH; Lee ST; Jeon BR; Lee YK; Ki CS; Lee YW
    Korean J Lab Med; 2010 Oct; 30(5):516-20. PubMed ID: 20890085
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers.
    Gorlov IP; Gorlova OY; Frazier ML; Amos CI
    Am J Hum Genet; 2003 Nov; 73(5):1157-61. PubMed ID: 14526391
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Li-Fraumeni and Li-Fraumeni-like syndrome mutations in p53 are associated with exonic methylation and splicing regulatory elements.
    Kouidou S; Malousi A; Maglaveras N
    Mol Carcinog; 2009 Oct; 48(10):895-902. PubMed ID: 19367569
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
    Qu Y; Shapira E; Desnick RJ
    Mol Genet Metab; 1999 Jul; 67(3):206-12. PubMed ID: 10381328
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients.
    Barth ML; Fensom A; Harris A
    Hum Mol Genet; 1993 Dec; 2(12):2117-21. PubMed ID: 7906588
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.