BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

285 related articles for article (PubMed ID: 18273899)

  • 21. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
    Habara Y; Takeshima Y; Awano H; Okizuka Y; Zhang Z; Saiki K; Yagi M; Matsuo M
    J Med Genet; 2009 Aug; 46(8):542-7. PubMed ID: 19001018
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Silencer elements as possible inhibitors of pseudoexon splicing.
    Sironi M; Menozzi G; Riva L; Cagliani R; Comi GP; Bresolin N; Giorda R; Pozzoli U
    Nucleic Acids Res; 2004; 32(5):1783-91. PubMed ID: 15034146
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Molecular analysis of human acatalasemia. Identification of a splicing mutation.
    Wen JK; Osumi T; Hashimoto T; Ogata M
    J Mol Biol; 1990 Jan; 211(2):383-93. PubMed ID: 2308162
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Purine-rich exon sequences are not necessarily splicing enhancer sequence in the dystrophin gene.
    Ito T; Takeshima Y; Sakamoto H; Nakamura H; Matsuo M
    Kobe J Med Sci; 2001 Oct; 47(5):193-202. PubMed ID: 11781497
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. PLP1 alternative splicing in differentiating oligodendrocytes: characterization of an exonic splicing enhancer.
    Wang E; Huang Z; Hobson GM; Dimova N; Sperle K; McCullough A; Cambi F
    J Cell Biochem; 2006 Apr; 97(5):999-1016. PubMed ID: 16288477
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
    Imbard A; Boutron A; Vequaud C; Zater M; de Lonlay P; de Baulny HO; Barnerias C; Miné M; Marsac C; Saudubray JM; Brivet M
    Mol Genet Metab; 2011 Dec; 104(4):507-16. PubMed ID: 21914562
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy.
    De Meirleir L; Lissens W; Benelli C; Ponsot G; Desguerre I; Marsac C; Rodriguez D; Saudubray JM; Poggi F; Liebaers I
    Pediatr Res; 1994 Dec; 36(6):707-12. PubMed ID: 7898978
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Inactivation of the murine pyruvate dehydrogenase (Pdha1) gene and its effect on early embryonic development.
    Johnson MT; Mahmood S; Hyatt SL; Yang HS; Soloway PD; Hanson RW; Patel MS
    Mol Genet Metab; 2001 Nov; 74(3):293-302. PubMed ID: 11708858
    [TBL] [Abstract][Full Text] [Related]  

  • 31. The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues.
    Pepe CM; Saraco NI; Baquedano MS; Guercio G; Vaiani E; Marino R; Pandey AV; Flück CE; Rivarola MA; Belgorosky A
    Clin Endocrinol (Oxf); 2007 Nov; 67(5):698-705. PubMed ID: 17608756
    [TBL] [Abstract][Full Text] [Related]  

  • 32. In vitro expression of beta-thalassaemia gene (IVS1-1G>C) reveals complete inactivation of the normal 5' splice site and alternative aberrant RNA splicing.
    Fujihara N; Yamauchi K; Hirota-Kawadobora M; Ishikawa S; Tozuka M; Ishii E; Katsuyama T; Okumura N; Taniguchi S
    Ann Clin Biochem; 2007 Nov; 44(Pt 6):573-8. PubMed ID: 17961316
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.
    Pagani F; Buratti E; Stuani C; Baralle FE
    J Biol Chem; 2003 Jul; 278(29):26580-8. PubMed ID: 12732620
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.
    Quintana E; Gort L; Busquets C; Navarro-Sastre A; Lissens W; Moliner S; Lluch M; Vilaseca MA; De Meirleir L; Ribes A; Briones P;
    Clin Genet; 2010 May; 77(5):474-82. PubMed ID: 20002461
    [TBL] [Abstract][Full Text] [Related]  

  • 36. The ratio of +/-KTS splice variants of the Wilms' tumour suppressor protein WT1 mRNA is determined by an intronic enhancer.
    Yang C; Romaniuk PJ
    Biochem Cell Biol; 2008 Aug; 86(4):312-21. PubMed ID: 18756326
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Interference with splicing of Presenilin transcripts has potent dominant negative effects on Presenilin activity.
    Nornes S; Newman M; Verdile G; Wells S; Stoick-Cooper CL; Tucker B; Frederich-Sleptsova I; Martins R; Lardelli M
    Hum Mol Genet; 2008 Feb; 17(3):402-12. PubMed ID: 17981814
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.
    Miné M; Brivet M; Touati G; Grabowski P; Abitbol M; Marsac C
    J Biol Chem; 2003 Apr; 278(14):11768-72. PubMed ID: 12551913
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Tau exon 6 is regulated by an intricate interplay of trans factors and cis elements, including multiple branch points.
    Wang J; Tse SW; Andreadis A
    J Neurochem; 2007 Jan; 100(2):437-45. PubMed ID: 17144905
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Pre-mRNA splicing: a source of a diversified gene expression network].
    Mayeda A; Suzuki H
    Tanpakushitsu Kakusan Koso; 2003 Mar; 48(4 Suppl):404-13. PubMed ID: 12696148
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.