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Journal Abstract Search

178 related items for PubMed ID: 9326943

  • 1. The genetic and functional basis of isolated 17,20-lyase deficiency.
    Geller DH, Auchus RJ, Mendonça BB, Miller WL.
    Nat Genet; 1997 Oct; 17(2):201-5. PubMed ID: 9326943
    [Abstract] [Full Text] [Related]

  • 2. Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency.
    Gupta MK, Geller DH, Auchus RJ.
    J Clin Endocrinol Metab; 2001 Sep; 86(9):4416-23. PubMed ID: 11549685
    [Abstract] [Full Text] [Related]

  • 3. Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.
    Van Den Akker EL, Koper JW, Boehmer AL, Themmen AP, Verhoef-Post M, Timmerman MA, Otten BJ, Drop SL, De Jong FH.
    J Clin Endocrinol Metab; 2002 Dec; 87(12):5714-21. PubMed ID: 12466376
    [Abstract] [Full Text] [Related]

  • 4. The regulation of 17,20 lyase activity.
    Miller WL, Auchus RJ, Geller DH.
    Steroids; 1997 Jan; 62(1):133-42. PubMed ID: 9029728
    [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. A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency.
    Biason-Lauber A, Leiberman E, Zachmann M.
    J Clin Endocrinol Metab; 1997 Nov; 82(11):3807-12. PubMed ID: 9360545
    [Abstract] [Full Text] [Related]

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  • 8. Steroid 17 alpha-hydroxylase and 17,20-lyase activities of P450c17: contributions of serine106 and P450 reductase.
    Lin D, Black SM, Nagahama Y, Miller WL.
    Endocrinology; 1993 Jun; 132(6):2498-506. PubMed ID: 8504753
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  • 10. Molecular basis of 17α-hydroxylase/17,20-lyase deficiency.
    Yanase T, Imai T, Simpson ER, Waterman MR.
    J Steroid Biochem Mol Biol; 1992 Dec; 43(8):973-9. PubMed ID: 22217842
    [Abstract] [Full Text] [Related]

  • 11. P450c17 mutations R347H and R358Q selectively disrupt 17,20-lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b5.
    Geller DH, Auchus RJ, Miller WL.
    Mol Endocrinol; 1999 Jan; 13(1):167-75. PubMed ID: 9892022
    [Abstract] [Full Text] [Related]

  • 12. Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.
    Hershkovitz E, Parvari R, Wudy SA, Hartmann MF, Gomes LG, Loewental N, Miller WL.
    J Clin Endocrinol Metab; 2008 Sep; 93(9):3584-8. PubMed ID: 18559916
    [Abstract] [Full Text] [Related]

  • 13. Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations.
    Auchus RJ, Miller WL.
    Mol Endocrinol; 1999 Jul; 13(7):1169-82. PubMed ID: 10406467
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  • 15. Modeling and mutagenesis of the active site of human P450c17.
    Lin D, Zhang LH, Chiao E, Miller WL.
    Mol Endocrinol; 1994 Mar; 8(3):392-402. PubMed ID: 8015556
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  • 17. CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding.
    Sherbet DP, Tiosano D, Kwist KM, Hochberg Z, Auchus RJ.
    J Biol Chem; 2003 Dec 05; 278(49):48563-9. PubMed ID: 14504283
    [Abstract] [Full Text] [Related]

  • 18. Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
    Auchus RJ.
    J Steroid Biochem Mol Biol; 2017 Jan 05; 165(Pt A):71-78. PubMed ID: 26862015
    [Abstract] [Full Text] [Related]

  • 19. Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.
    Di Cerbo A, Biason-Lauber A, Savino M, Piemontese MR, Di Giorgio A, Perona M, Savoia A.
    J Clin Endocrinol Metab; 2002 Feb 05; 87(2):898-905. PubMed ID: 11836339
    [Abstract] [Full Text] [Related]

  • 20. Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.
    Fardella CE, Hum DW, Homoki J, Miller WL.
    J Clin Endocrinol Metab; 1994 Jul 05; 79(1):160-4. PubMed ID: 8027220
    [Abstract] [Full Text] [Related]

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