BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

191 related articles for article (PubMed ID: 2246255)

  • 1. Analysis of a splice acceptor site mutation which produces multiple splicing abnormalities in the human argininosuccinate synthetase locus.
    Su TS; Lin LH
    J Biol Chem; 1990 Nov; 265(32):19716-20. PubMed ID: 2246255
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Usage of cryptic splice sites in citrullinemia fibroblasts suggests role of polyadenylation in splice-site selection during terminal exon definition.
    Tsai TF; Wu MJ; Su TS
    DNA Cell Biol; 1998 Aug; 17(8):717-25. PubMed ID: 9726254
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.
    Kobayashi K; Kakinoki H; Fukushige T; Shaheen N; Terazono H; Saheki T
    Hum Genet; 1995 Oct; 96(4):454-63. PubMed ID: 7557970
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.
    Kobayashi K; Jackson MJ; Tick DB; O'Brien WE; Beaudet AL
    J Biol Chem; 1990 Jul; 265(19):11361-7. PubMed ID: 2358466
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.
    Kobayashi K; Shaheen N; Terazono H; Saheki T
    Am J Hum Genet; 1994 Dec; 55(6):1103-12. PubMed ID: 7977368
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Messenger RNA coding for argininosuccinate synthetase in citrullinemia.
    Kobayashi K; Saheki T; Imamura Y; Noda T; Inoue I; Matuo S; Hagihara S; Nomiyama H; Jinno Y; Shimada K
    Am J Hum Genet; 1986 May; 38(5):667-80. PubMed ID: 3459354
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Additional mutations in argininosuccinate synthetase causing citrullinemia.
    Kobayashi K; Rosenbloom C; Beaudet AL; O'Brien WE
    Mol Biol Med; 1991 Feb; 8(1):95-100. PubMed ID: 1943692
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular definition of bovine argininosuccinate synthetase deficiency.
    Dennis JA; Healy PJ; Beaudet AL; O'Brien WE
    Proc Natl Acad Sci U S A; 1989 Oct; 86(20):7947-51. PubMed ID: 2813370
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia.
    Kobayashi K; Ichiki H; Saheki T; Tatsuno M; Uchiyama C; Nukada O; Yoda T
    Hum Genet; 1987 May; 76(1):27-32. PubMed ID: 3570300
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations in argininosuccinate synthetase mRNA in Japanese patients, causing classical citrullinemia.
    Kobayashi K; Shaheen N; Terazono H; Saheki T
    Am J Hum Genet; 1995 Jan; 56(1):356. PubMed ID: 7825601
    [No Abstract]   [Full Text] [Related]  

  • 11. Exon 10 skipping caused by intron 10 splice donor site mutation in cholesteryl ester transfer protein gene results in abnormal downstream splice site selection.
    Sakai N; Santamarina-Fojo S; Yamashita S; Matsuzawa Y; Brewer HB
    J Lipid Res; 1996 Oct; 37(10):2065-73. PubMed ID: 8906584
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The human argininosuccinate synthetase locus and citrullinemia.
    Beaudet AL; O'Brien WE; Bock HG; Freytag SO; Su TS
    Adv Hum Genet; 1986; 15():161-96, 291-2. PubMed ID: 3513483
    [No Abstract]   [Full Text] [Related]  

  • 13. Abnormal mRNA for argininosuccinate synthetase in citrullinaemia.
    Su TS; Beaudet AL; O'Brien WE
    Nature; 1983 Feb; 301(5900):533-4. PubMed ID: 6823333
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Molecular structure of the human argininosuccinate synthetase gene: occurrence of alternative mRNA splicing.
    Freytag SO; Beaudet AL; Bock HG; O'Brien WE
    Mol Cell Biol; 1984 Oct; 4(10):1978-84. PubMed ID: 6095035
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Alternative splicing of the human alpha 2(VI) collagen gene generates multiple mRNA transcripts which predict three protein variants with distinct carboxyl termini.
    Saitta B; Stokes DG; Vissing H; Timpl R; Chu ML
    J Biol Chem; 1990 Apr; 265(11):6473-80. PubMed ID: 1690728
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.
    Kimani JK; Wei T; Chol K; Li Y; Yu P; Ye S; Huang X; Qi M
    Clin Chim Acta; 2015 Jan; 438():323-9. PubMed ID: 25179242
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene.
    Nakamura K; Fukao T; Perez-Cerda C; Luque C; Song XQ; Naiki Y; Kohno Y; Ugarte M; Kondo N
    Mol Genet Metab; 2001 Feb; 72(2):115-21. PubMed ID: 11161837
    [TBL] [Abstract][Full Text] [Related]  

  • 19. BAP1 missense mutation c.2054 A>T (p.E685V) completely disrupts normal splicing through creation of a novel 5' splice site in a human mesothelioma cell line.
    Morrison A; Chekaluk Y; Bacares R; Ladanyi M; Zhang L
    PLoS One; 2015; 10(4):e0119224. PubMed ID: 25830670
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular characterization of the murine argininosuccinate synthetase locus.
    Surh LC; Beaudet AL; O'Brien WE
    Gene; 1991 Mar; 99(2):181-9. PubMed ID: 1708740
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.