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Journal Abstract Search

151 related items for PubMed ID: 14715826

  • 1. Two intronic mutations cause 17-hydroxylase deficiency by disrupting splice acceptor sites: direct demonstration of aberrant splicing and absent enzyme activity by expression of the entire CYP17 gene in HEK-293 cells.
    Costa-Santos M, Kater CE, Dias EP, Auchus RJ.
    J Clin Endocrinol Metab; 2004 Jan; 89(1):43-8. PubMed ID: 14715826
    [Abstract] [Full Text] [Related]

  • 2. A 5'-splice site mutation in the cytochrome P450 steroid 17alpha-hydroxylase gene in 17alpha-hydroxylase deficiency.
    Yamaguchi H, Nakazato M, Miyazato M, Kangawa K, Matsukura S.
    J Clin Endocrinol Metab; 1997 Jun; 82(6):1934-8. PubMed ID: 9177409
    [Abstract] [Full Text] [Related]

  • 3. CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency.
    Hwang DY, Hung CC, Riepe FG, Auchus RJ, Kulle AE, Holterhus PM, Chao MC, Kuo MC, Hwang SJ, Chen HC.
    PLoS One; 2011 Jun; 6(9):e25492. PubMed ID: 21966534
    [Abstract] [Full Text] [Related]

  • 4. Identification of a novel splicing mutation and 1-bp deletion in the 17alpha-hydroxylase gene of Japanese patients with 17alpha-hydroxylase deficiency.
    Yamaguchi H, Nakazato M, Miyazato M, Toshimori H, Oki S, Shimizu K, Suiko M, Kangawa K, Matsukura S.
    Hum Genet; 1998 Jun; 102(6):635-9. PubMed ID: 9703423
    [Abstract] [Full Text] [Related]

  • 5. Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling.
    Patocs A, Liko I, Varga I, Gergics P, Boros A, Futo L, Kun I, Bertalan R, Toth S, Pazmany T, Toth M, Szücs N, Horanyi J, Glaz E, Racz K.
    J Steroid Biochem Mol Biol; 2005 Nov; 97(3):257-65. PubMed ID: 16176874
    [Abstract] [Full Text] [Related]

  • 6. Seventeen alpha-hydroxylase deficiency with one base pair deletion of the cytochrome P450c17 (CYP17) gene.
    Oshiro C, Takasu N, Wakugami T, Komiya I, Yamada T, Eguchi Y, Takei H.
    J Clin Endocrinol Metab; 1995 Aug; 80(8):2526-9. PubMed ID: 7629254
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

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  • 9. A unique exonic splicing mutation in the CYP17A1 gene as the cause for steroid 17{alpha}-hydroxylase deficiency.
    Qiao J, Han B, Liu BL, Liu W, Wu JJ, Pan CM, Jiang H, Gu T, Jiang BR, Zhu H, Lu YL, Wu WL, Chen MD, Song HD.
    Eur J Endocrinol; 2011 Apr; 164(4):627-33. PubMed ID: 21282350
    [Abstract] [Full Text] [Related]

  • 10. Altered mRNA expression due to insertion or substitution of thymine at position +3 of two splice-donor sites in the androgen receptor gene.
    Trifiro MA, Lumbroso R, Beitel LK, Vasiliou DM, Bouchard J, Deal C, Van Vliet G, Pinsky L.
    Eur J Hum Genet; 1997 Apr; 5(1):50-8. PubMed ID: 9156321
    [Abstract] [Full Text] [Related]

  • 11. A rare intronic mutation in the splice acceptor site of the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency.
    Guo X, Wang H, Xiang Y, Ren X, Jiang S.
    Gynecol Endocrinol; 2021 Jan; 37(1):97-100. PubMed ID: 32945709
    [Abstract] [Full Text] [Related]

  • 12. Multiple transcripts of the CYP21 gene are generated by the mutation of the splicing donor site in intron 2 from GT to AT in 21-hydroxylase deficiency.
    Lee HH, Chang SF.
    J Endocrinol; 2001 Dec; 171(3):397-402. PubMed ID: 11739005
    [Abstract] [Full Text] [Related]

  • 13. A novel compound heterozygous mutation in the CYP17 (P450 17alpha-hydroxylase) gene leading to 17alpha-hydroxylase/17,20-lyase deficiency.
    Hahm JR, Kim DR, Jeong DK, Chung JH, Lee MS, Min YK, Kim KW, Lee MK.
    Metabolism; 2003 Apr; 52(4):488-92. PubMed ID: 12701064
    [Abstract] [Full Text] [Related]

  • 14. Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.
    Fujimaru M, Tanaka A, Choeh K, Wakamatsu N, Sakuraba H, Isshiki G.
    Hum Genet; 1998 Oct; 103(4):462-9. PubMed ID: 9856491
    [Abstract] [Full Text] [Related]

  • 15. Characterization of hprt splicing mutations induced by the ultimate carcinogenic metabolite of benzo[a]pyrene in Chinese hamster V-79 cells.
    Hennig EE, Conney AH, Wei SJ.
    Cancer Res; 1995 Apr 01; 55(7):1550-8. PubMed ID: 7882364
    [Abstract] [Full Text] [Related]

  • 16. 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 Apr 01; 10(4):e0119224. PubMed ID: 25830670
    [Abstract] [Full Text] [Related]

  • 17. Genotyping of five chinese patients with 17alpha-hydroxylase deficiency diagnosed through high-performance liquid chromatography serum adrenal profile: identification of two novel CYP17 mutations.
    Wei JQ, Wei JL, Li WC, Bi YS, Wei FC.
    J Clin Endocrinol Metab; 2006 Sep 01; 91(9):3647-53. PubMed ID: 16822828
    [Abstract] [Full Text] [Related]

  • 18. A new compound heterozygous mutation (W17X, 436 + 5G --> T) in the cytochrome P450c17 gene causes 17 alpha-hydroxylase/17,20-lyase deficiency.
    Suzuki Y, Nagashima T, Nomura Y, Onigata K, Nagashima K, Morikawa A.
    J Clin Endocrinol Metab; 1998 Jan 01; 83(1):199-202. PubMed ID: 9435441
    [Abstract] [Full Text] [Related]

  • 19. Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses.
    Holla ØL, Nakken S, Mattingsdal M, Ranheim T, Berge KE, Defesche JC, Leren TP.
    Mol Genet Metab; 2009 Apr 01; 96(4):245-52. PubMed ID: 19208450
    [Abstract] [Full Text] [Related]

  • 20. Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences.
    Mayer K, Ballhausen W, Leistner W, Rott H.
    Biochim Biophys Acta; 2000 Nov 15; 1502(3):495-507. PubMed ID: 11068191
    [Abstract] [Full Text] [Related]

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