BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

215 related articles for article (PubMed ID: 18296749)

  • 41. Cloning, expression, and functional characterization of human cyclooxygenase-1 splicing variants: evidence for intron 1 retention.
    Qin N; Zhang SP; Reitz TL; Mei JM; Flores CM
    J Pharmacol Exp Ther; 2005 Dec; 315(3):1298-305. PubMed ID: 16141368
    [TBL] [Abstract][Full Text] [Related]  

  • 42. A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney.
    Shao L; Liu L; Miao Z; Ren H; Wang W; Lang Y; Yue S; Chen N
    Am J Nephrol; 2008; 28(6):900-7. PubMed ID: 18580052
    [TBL] [Abstract][Full Text] [Related]  

  • 43. An intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pig.
    Sironen A; Thomsen B; Andersson M; Ahola V; Vilkki J
    Proc Natl Acad Sci U S A; 2006 Mar; 103(13):5006-11. PubMed ID: 16549801
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.
    Guella I; Soldà G; Spena S; Asselta R; Ghiotto R; Tenchini ML; Castaman G; Duga S
    Thromb Haemost; 2008 Mar; 99(3):523-30. PubMed ID: 18327400
    [TBL] [Abstract][Full Text] [Related]  

  • 45. A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
    Ridout CK; Keighley P; Krywawych S; Brown RM; Brown GK
    Hum Mutat; 2008 Mar; 29(3):451. PubMed ID: 18273899
    [TBL] [Abstract][Full Text] [Related]  

  • 46. A novel de novo dominant mutation in
    Legati A; Reyes A; Ceccatelli Berti C; Stehling O; Marchet S; Lamperti C; Ferrari A; Robinson AJ; Mühlenhoff U; Lill R; Zeviani M; Goffrini P; Ghezzi D
    J Med Genet; 2017 Dec; 54(12):815-824. PubMed ID: 29079705
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.
    Gamundi MJ; Hernan I; Muntanyola M; Maseras M; López-Romero P; Alvarez R; Dopazo A; Borrego S; Carballo M
    Hum Mutat; 2008 Jun; 29(6):869-78. PubMed ID: 18412284
    [TBL] [Abstract][Full Text] [Related]  

  • 48. A novel CACNA1F gene mutation causes Aland Island eye disease.
    Jalkanen R; Bech-Hansen NT; Tobias R; Sankila EM; Mäntyjärvi M; Forsius H; de la Chapelle A; Alitalo T
    Invest Ophthalmol Vis Sci; 2007 Jun; 48(6):2498-502. PubMed ID: 17525176
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site. Mutation in brief no. 259. Online.
    Colgin LM; Hackmann AF; Monnat RJ
    Hum Mutat; 1999; 14(1):92. PubMed ID: 10447274
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.
    Zhang K; Nowak I; Rushlow D; Gallie BL; Lohmann DR
    Hum Mutat; 2008 Apr; 29(4):475-84. PubMed ID: 18181215
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3.
    Cameron J; Holla ØL; Kulseth MA; Leren TP; Berge KE
    Clin Chim Acta; 2009 May; 403(1-2):131-5. PubMed ID: 19361455
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Effects of a synonymous variant in exon 9 of the CD44 gene on pre-mRNA splicing in a family with osteoporosis.
    Vidal C; Cachia A; Xuereb-Anastasi A
    Bone; 2009 Oct; 45(4):736-42. PubMed ID: 19580891
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Introns in the cytolethal distending toxin gene of Actinobacillus actinomycetemcomitans.
    Tan KS; Ong G; Song KP
    J Bacteriol; 2005 Jan; 187(2):567-75. PubMed ID: 15629928
    [TBL] [Abstract][Full Text] [Related]  

  • 54. A functional homing endonuclease in the Bacillus anthracis nrdE group I intron.
    Nord D; Torrents E; Sjöberg BM
    J Bacteriol; 2007 Jul; 189(14):5293-301. PubMed ID: 17496101
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Tissue specificity of a human mitochondrial disease: differentiation-enhanced mis-splicing of the Fe-S scaffold gene ISCU renders patient cells more sensitive to oxidative stress in ISCU myopathy.
    Crooks DR; Jeong SY; Tong WH; Ghosh MC; Olivierre H; Haller RG; Rouault TA
    J Biol Chem; 2012 Nov; 287(48):40119-30. PubMed ID: 23035118
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.
    Pomares E; Riera M; Castro-Navarro J; Andrés-Gutiérrez A; Gonzàlez-Duarte R; Marfany G
    Invest Ophthalmol Vis Sci; 2009 Nov; 50(11):5107-14. PubMed ID: 19516003
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Nucleotide changes around the splicing acceptor of intron 24 in the factor VIII gene and its impact on splicing.
    Gau JP; Chen CC; Hsu HC; Ho CH; Chau WK; You JY; Yu YB
    Blood Coagul Fibrinolysis; 2006 Jan; 17(1):53-6. PubMed ID: 16607080
    [TBL] [Abstract][Full Text] [Related]  

  • 58. The asymmetric trimeric architecture of [2Fe-2S] IscU: implications for its scaffolding during iron-sulfur cluster biosynthesis.
    Shimomura Y; Wada K; Fukuyama K; Takahashi Y
    J Mol Biol; 2008 Oct; 383(1):133-43. PubMed ID: 18723024
    [TBL] [Abstract][Full Text] [Related]  

  • 59. 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]  

  • 60. Phenotypic consequences of branch point substitutions.
    Královicová J; Lei H; Vorechovský I
    Hum Mutat; 2006 Aug; 27(8):803-13. PubMed ID: 16835862
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.