BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

169 related articles for article (PubMed ID: 12551913)

  • 61. 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]  

  • 62. A single base mutation in the 5' splice site of intron 7 of the lck gene is responsible for the deletion of exon 7 in lck mRNA of the JCaM1 cell line.
    Rouer E; Brule F; Benarous R
    Oncogene; 1999 Jul; 18(29):4262-8. PubMed ID: 10435639
    [TBL] [Abstract][Full Text] [Related]  

  • 63. 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]  

  • 64. Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G-->A) associated with intron retention.
    Hayashi T; Gekka T; Omoto S; Takeuchi T; Kitahara K
    Ophthalmic Res; 2005; 37(4):214-24. PubMed ID: 16006781
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation.
    Hujová P; Souček P; Grodecká L; Grombiříková H; Ravčuková B; Kuklínek P; Hakl R; Litzman J; Freiberger T
    J Clin Immunol; 2020 Apr; 40(3):435-446. PubMed ID: 31982983
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Splicing mutations in human genetic disorders: examples, detection, and confirmation.
    Anna A; Monika G
    J Appl Genet; 2018 Aug; 59(3):253-268. PubMed ID: 29680930
    [TBL] [Abstract][Full Text] [Related]  

  • 67. A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro.
    Thi Tran HT; Takeshima Y; Surono A; Yagi M; Wada H; Matsuo M
    Mol Genet Metab; 2005 Jul; 85(3):213-9. PubMed ID: 15979033
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Biochemical characterization of two mutants of human pyruvate dehydrogenase, F205L and T231A of the E1alpha subunit.
    Wu YG; Chen WY; Zhang ZW; Yang GZ; Li W; Duggleby RG
    J Inherit Metab Dis; 2003; 26(7):671-4. PubMed ID: 14707515
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation.
    Schwarze U; Starman BJ; Byers PH
    Am J Hum Genet; 1999 Aug; 65(2):336-44. PubMed ID: 10417276
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Alteration of introns in a hyaluronan synthase 1 (HAS1) minigene convert Pre-mRNA [corrected] splicing to the aberrant pattern in multiple myeloma (MM): MM patients harbor similar changes.
    Kriangkum J; Warkentin A; Belch AR; Pilarski LM
    PLoS One; 2013; 8(1):e53469. PubMed ID: 23301075
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA).
    Attanasio C; David A; Neerman-Arbez M
    Blood; 2003 Mar; 101(5):1851-6. PubMed ID: 12406899
    [TBL] [Abstract][Full Text] [Related]  

  • 72. A novel intronic mutation results in the use of a cryptic splice acceptor site within the coding region of UGT1A1, causing Crigler-Najjar syndrome type 1.
    Sappal BS; Ghosh SS; Shneider B; Kadakol A; Chowdhury JR; Chowdhury NR
    Mol Genet Metab; 2002 Feb; 75(2):134-42. PubMed ID: 11855932
    [TBL] [Abstract][Full Text] [Related]  

  • 73. E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.
    Chuang JL; Cox RP; Chuang DT
    J Clin Invest; 1997 Aug; 100(3):736-44. PubMed ID: 9239422
    [TBL] [Abstract][Full Text] [Related]  

  • 74. Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.
    Béroud C; Carrié A; Beldjord C; Deburgrave N; Llense S; Carelle N; Peccate C; Cuisset JM; Pandit F; Carré-Pigeon F; Mayer M; Bellance R; Récan D; Chelly J; Kaplan JC; Leturcq F
    Neuromuscul Disord; 2004 Jan; 14(1):10-8. PubMed ID: 14659407
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
    Lai LW; Whitehair O; Wu MJ; O'Meara M; Lien YH
    Clin Genet; 2003 Jun; 63(6):476-82. PubMed ID: 12786754
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.
    Ridout CK; Brown RM; Walter JH; Brown GK
    Hum Genet; 2008 Sep; 124(2):187-93. PubMed ID: 18709504
    [TBL] [Abstract][Full Text] [Related]  

  • 77. A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors.
    Chen LL; Sabripour M; Wu EF; Prieto VG; Fuller GN; Frazier ML
    Oncogene; 2005 Jun; 24(26):4271-80. PubMed ID: 15824741
    [TBL] [Abstract][Full Text] [Related]  

  • 78. An Alu-derived intronic splicing enhancer facilitates intronic processing and modulates aberrant splicing in ATM.
    Pastor T; Talotti G; Lewandowska MA; Pagani F
    Nucleic Acids Res; 2009 Nov; 37(21):7258-67. PubMed ID: 19773425
    [TBL] [Abstract][Full Text] [Related]  

  • 79. A G-to-T transversion at the splice acceptor site of dystrophin exon 14 shows multiple splicing outcomes that are not exemplified by transition mutations.
    Ota M; Takeshima Y; Nishida A; Awano H; Lee T; Yagi M; Matsuo M
    Genet Test Mol Biomarkers; 2012 Jan; 16(1):3-8. PubMed ID: 21854195
    [TBL] [Abstract][Full Text] [Related]  

  • 80. tau Exon 10 expression involves a bipartite intron 10 regulatory sequence and weak 5' and 3' splice sites.
    D'Souza I; Schellenberg GD
    J Biol Chem; 2002 Jul; 277(29):26587-99. PubMed ID: 12000767
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.