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344 related items for PubMed ID: 12466376

  • 1. 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]

  • 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. 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]

  • 4. 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]

  • 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. The molecular basis of isolated 17,20 lyase deficiency.
    Miller WL, Geller DH, Auchus RJ.
    Endocr Res; 1998 Nov; 24(3-4):817-25. PubMed ID: 9888582
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency.
    Katsumata N, Ogawa E, Fujiwara I, Fujikura K.
    Metabolism; 2010 Feb 05; 59(2):275-8. PubMed ID: 19793597
    [Abstract] [Full Text] [Related]

  • 9. The genetic and functional basis of isolated 17,20-lyase deficiency.
    Geller DH, Auchus RJ, Mendonça BB, Miller WL.
    Nat Genet; 1997 Oct 05; 17(2):201-5. PubMed ID: 9326943
    [Abstract] [Full Text] [Related]

  • 10. Clinical, genetic and functional characteristics of three novel CYP17A1 mutations causing combined 17alpha-hydroxylase/17,20-lyase deficiency.
    Rosa S, Steigert M, Lang-Muritano M, l'Allemand D, Schoenle EJ, Biason-Lauber A.
    Horm Res Paediatr; 2010 Oct 05; 73(3):198-204. PubMed ID: 20197673
    [Abstract] [Full Text] [Related]

  • 11. A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency.
    Brooke AM, Taylor NF, Shepherd JH, Gore ME, Ahmad T, Lin L, Rumsby G, Papari-Zareei M, Auchus RJ, Achermann JC, Monson JP.
    J Clin Endocrinol Metab; 2006 Jun 05; 91(6):2428-31. PubMed ID: 16569739
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 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 05; 13(7):1169-82. PubMed ID: 10406467
    [Abstract] [Full Text] [Related]

  • 14. Towards a unifying mechanism for CYP17 mutations that cause isolated 17,20-lyase deficiency.
    Auchus RJ, Gupta MK.
    Endocr Res; 2002 Nov 05; 28(4):443-7. PubMed ID: 12530647
    [Abstract] [Full Text] [Related]

  • 15. The regulation of 17,20 lyase activity.
    Miller WL, Auchus RJ, Geller DH.
    Steroids; 1997 Jan 05; 62(1):133-42. PubMed ID: 9029728
    [Abstract] [Full Text] [Related]

  • 16. New compound heterozygous mutation in the CYP17 gene in a 46,XY girl with 17 alpha-hydroxylase/17,20-lyase deficiency.
    Katsumata N, Satoh M, Mikami A, Mikami S, Nagashima-Miyokawa A, Sato N, Yokoya S, Tanaka T.
    Horm Res; 2001 Jan 05; 55(3):141-6. PubMed ID: 11549876
    [Abstract] [Full Text] [Related]

  • 17. 17alpha-hydroxylase/17,20-lyase deficiency caused by a novel homozygous mutation (Y27Stop) in the cytochrome CYP17 gene.
    Müssig K, Kaltenbach S, Machicao F, Maser-Gluth C, Hartmann MF, Wudy SA, Schnauder G, Häring HU, Seif FJ, Gallwitz B.
    J Clin Endocrinol Metab; 2005 Jul 05; 90(7):4362-5. PubMed ID: 15811924
    [Abstract] [Full Text] [Related]

  • 18. Partial deficiency of 17α-hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome heme-interacting motif.
    Rubtsov P, Nizhnik A, Dedov I, Kalinchenko N, Petrov V, Orekhova A, Spirin P, Prassolov V, Tiulpakov A.
    Eur J Endocrinol; 2015 May 05; 172(5):K19-25. PubMed ID: 25650406
    [Abstract] [Full Text] [Related]

  • 19. Homozygous CYP17A1 mutation (H373L) identified in a 46,XX female with combined 17α-hydroxylase/17,20-lyase deficiency.
    Lee MH, Won Park S, Yoon TK, Shim SH.
    Gynecol Endocrinol; 2012 Jul 05; 28(7):573-6. PubMed ID: 22452398
    [Abstract] [Full Text] [Related]

  • 20. Metabolic evidence for impaired 17alpha-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity.
    Tiosano D, Knopf C, Koren I, Levanon N, Hartmann MF, Hochberg Z, Wudy SA.
    Eur J Endocrinol; 2008 Mar 05; 158(3):385-92. PubMed ID: 18299473
    [Abstract] [Full Text] [Related]

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