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Journal Abstract Search

273 related items for PubMed ID: 22217842

  • 41. A single amino acid residue, Ala 105, confers 16alpha-hydroxylase activity to human cytochrome P450 17alpha-hydroxylase/17,20 lyase.
    Swart AC, Storbeck KH, Swart P.
    J Steroid Biochem Mol Biol; 2010 Apr; 119(3-5):112-20. PubMed ID: 20043997
    [Abstract] [Full Text] [Related]

  • 42. Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496)----Cys, Gln(461)----Stop) actually cause combined 17 alpha-hydroxylase/17,20-lyase deficiency.
    Yanase T, Waterman MR, Zachmann M, Winter JS, Simpson ER, Kagimoto M.
    Biochim Biophys Acta; 1992 Aug 25; 1139(4):275-9. PubMed ID: 1515452
    [Abstract] [Full Text] [Related]

  • 43. Mutagenesis of putative serine-threonine phosphorylation sites proximal to Arg255 of human cytochrome P450c17 does not selectively promote its 17,20-lyase activity.
    Souter I, Munir I, Mallick P, Weitsman SR, Geller DH, Magoffin DA.
    Fertil Steril; 2006 Apr 25; 85 Suppl 1():1290-9. PubMed ID: 16616104
    [Abstract] [Full Text] [Related]

  • 44. New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency.
    Zhang M, Sun S, Liu Y, Zhang H, Jiao Y, Wang W, Li X.
    J Steroid Biochem Mol Biol; 2015 Jun 25; 150():11-6. PubMed ID: 25697092
    [Abstract] [Full Text] [Related]

  • 45. Compound heterozygous mutations (PHE53/54DEL and HIS373LEU) of the P450c17 gene result in a 17alpha-hydroxylase/17,20-lyase deficient male pseudohermaphrodite with unambiguous external genitalia.
    Uehara S, Sato J, Nishiyama Y, Matsuzaki S, Funato T, Murotsuki J, Yaegashi N, Okamura K, Yajima A.
    Tohoku J Exp Med; 2000 Apr 25; 190(4):279-87. PubMed ID: 10877510
    [Abstract] [Full Text] [Related]

  • 46. P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.
    Martin RM, Lin CJ, Costa EM, de Oliveira ML, Carrilho A, Villar H, Longui CA, Mendonca BB.
    J Clin Endocrinol Metab; 2003 Dec 25; 88(12):5739-46. PubMed ID: 14671162
    [Abstract] [Full Text] [Related]

  • 47. [New compound heterozygous mutation causes partial combined 17 alpha-hydroxylase/17,20-lyase deficiency].
    Tao H, Zhang B, Lu ZL, Pei Y, Mi SH.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Feb 25; 24(1):19-22. PubMed ID: 17285537
    [Abstract] [Full Text] [Related]

  • 48. Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene.
    Yang J, Cui B, Sun S, Shi T, Zheng S, Bi Y, Liu J, Zhao Y, Chen J, Ning G, Li X.
    J Clin Endocrinol Metab; 2006 Sep 25; 91(9):3619-25. PubMed ID: 16772352
    [Abstract] [Full Text] [Related]

  • 49. Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
    Auchus RJ.
    J Steroid Biochem Mol Biol; 2017 Jan 25; 165(Pt A):71-78. PubMed ID: 26862015
    [Abstract] [Full Text] [Related]

  • 50. The regulation of 17,20 lyase activity.
    Miller WL, Auchus RJ, Geller DH.
    Steroids; 1997 Jan 25; 62(1):133-42. PubMed ID: 9029728
    [Abstract] [Full Text] [Related]

  • 51. Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17alpha-hydroxylase/17,20-lyase deficiency.
    Qiao J, Chen X, Zuo CL, Gu YY, Liu BL, Liang J, Lu YL, Tang JF, Wu YX, Chen MD, Chen JL, Wu WL, Song HD.
    Clin Endocrinol (Oxf); 2010 Mar 25; 72(3):312-9. PubMed ID: 19508587
    [Abstract] [Full Text] [Related]

  • 52. Subtle 17alpha-hydroxylase/17,20-lyase deficiency with homozygous Y201N mutation in an infertile woman.
    Taniyama M, Tanabe M, Saito H, Ban Y, Nawata H, Yanase T.
    J Clin Endocrinol Metab; 2005 May 25; 90(5):2508-11. PubMed ID: 15713706
    [Abstract] [Full Text] [Related]

  • 53. Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P45017 alpha (CYP17) gene.
    Yanase T, Sanders D, Shibata A, Matsui N, Simpson ER, Waterman MR.
    J Clin Endocrinol Metab; 1990 May 25; 70(5):1325-9. PubMed ID: 2335573
    [Abstract] [Full Text] [Related]

  • 54. Biochemical differences between rat and human cytochrome P450c17 support the different steroidogenic needs of these two species.
    Brock BJ, Waterman MR.
    Biochemistry; 1999 Feb 02; 38(5):1598-606. PubMed ID: 9931027
    [Abstract] [Full Text] [Related]

  • 55. Molecular evolution of adrenarche: structural and functional analysis of p450c17 from four primate species.
    Arlt W, Martens JW, Song M, Wang JT, Auchus RJ, Miller WL.
    Endocrinology; 2002 Dec 02; 143(12):4665-72. PubMed ID: 12446594
    [Abstract] [Full Text] [Related]

  • 56. Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency.
    Monno S, Ogawa H, Date T, Fujioka M, Miller WL, Kobayashi M.
    J Biol Chem; 1993 Dec 05; 268(34):25811-7. PubMed ID: 8245018
    [Abstract] [Full Text] [Related]

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  • 58. An easily missed diagnosis: 17-alpha-hydroxylase/17,20-lyase deficiency.
    Küçükemre-Aydın B, Öğrendil-Yanar Ö, Bilge I, Baş F, Poyrazoğlu Ş, Yılmaz A, Emre S, Bundak R, Saka N, Darendeliler F.
    Turk J Pediatr; 2015 Dec 05; 57(3):277-81. PubMed ID: 26701948
    [Abstract] [Full Text] [Related]

  • 59. A complex heterozygous mutation of His373Leu and Asp487-Ser488-Phe489 deletion in human cytochrome P450c17 causes 17alpha-hydroxylase/17,20-lyase deficiency in three Chinese sisters.
    Qiao J, Hu RM, Peng YD, Song HD, Peng YW, Gao GF, Hao JH, Hu NY, Xu MY, Chen JL.
    Mol Cell Endocrinol; 2003 Mar 28; 201(1-2):189-95. PubMed ID: 12706306
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