Expression of bovine 17 alpha-hydroxylase cytochrome P-450 cDNA in nonsteroidogenic (COS 1) cells. Zuber MX, Simpson ER, Waterman MR (1986) Science 234: 1258-61 Genetic variants and associations of 25-hydroxyvitamin D concentrations with major clinical outcomes. Levin GP, Robinson-Cohen C, de Boer IH, Houston DK, Lohman K, Liu Y, Kritchevsky SB, Cauley JA, Tanaka T, Ferrucci L, Bandinelli S, Patel KV, Hagström E, Michaëlsson K, Melhus H, Wang T, Wolf M, Psaty BM, Siscovick D, Kestenbaum B (2012) JAMA 308: 1898-905 17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. Yanase T, Simpson ER, Waterman MR (1991) Endocr Rev 12: 91-108 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk. Zeng C, Matsuda K, Jia WH, Chang J, Kweon SS, Xiang YB, Shin A, Jee SH, Kim DH, Zhang B, Cai Q, Guo X, Long J, Wang N, Courtney R, Pan ZZ, Wu C, Takahashi A, Shin MH, Matsuo K, Matsuda F, Gao YT, Oh JH, Kim S, Jung KJ, Ahn YO, Ren Z, Li HL, Wu J, Shi J, Wen W, Yang G, Li B, Ji BT, Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), Brenner H, Schoen RE, Küry S, Colorectal Transdisciplinary (CORECT) Study, Gruber SB, Schumacher FR, Stenzel SL, Colon Cancer Family Registry (CCFR), Casey G, Hopper JL, Jenkins MA, Kim HR, Jeong JY, Park JW, Tajima K, Cho SH, Kubo M, Shu XO, Lin D, Zeng YX, Zheng W (2016) Gastroenterology 150: 1633-1645 Transcriptional regulation of steroid hydroxylase genes by corticotropin. John ME, John MC, Boggaram V, Simpson ER, Waterman MR (1986) Proc Natl Acad Sci U S A 83: 4715-9 Simultaneous transfection of COS-1 cells with mitochondrial and microsomal steroid hydroxylases: incorporation of a steroidogenic pathway into nonsteroidogenic cells. Zuber MX, Mason JI, Simpson ER, Waterman MR (1988) Proc Natl Acad Sci U S A 85: 699-703 Expression and enzymatic activity of recombinant cytochrome P450 17 alpha-hydroxylase in Escherichia coli. Barnes HJ, Arlotto MP, Waterman MR (1991) Proc Natl Acad Sci U S A 88: 5597-601 Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity. Hanna IH, Dawling S, Roodi N, Guengerich FP, Parl FF (2000) Cancer Res 60: 3440-4 CYP24A1 and CYP27B1 polymorphisms modulate vitamin D metabolism in colon cancer cells. Jacobs ET, Van Pelt C, Forster RE, Zaidi W, Hibler EA, Galligan MA, Haussler MR, Jurutka PW (2013) Cancer Res 73: 2563-73 The serum 24,25-dihydroxyvitamin D concentration, a marker of vitamin D catabolism, is reduced in chronic kidney disease. Bosworth CR, Levin G, Robinson-Cohen C, Hoofnagle AN, Ruzinski J, Young B, Schwartz SM, Himmelfarb J, Kestenbaum B, de Boer IH (2012) Kidney Int 82: 693-700 Regulation of steroid hydroxylase gene expression: importance to physiology and disease. Keeney DS, Waterman MR (1993) Pharmacol Ther 58: 301-17 Progesterone 16 alpha-hydroxylase activity is catalyzed by human cytochrome P450 17 alpha-hydroxylase. Swart P, Swart AC, Waterman MR, Estabrook RW, Mason JI (1993) J Clin Endocrinol Metab 77: 98-102 Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency. Ahlgren R, Yanase T, Simpson ER, Winter JS, Waterman MR (1992) J Clin Endocrinol Metab 74: 667-72 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 (1990) J Clin Endocrinol Metab 70: 1325-9 Dominant suppression of Addison's disease associated with HLA-B15. Baker PR, Baschal EE, Fain PR, Nanduri P, Triolo TM, Siebert JC, Armstrong TK, Babu SR, Rewers MJ, Gottlieb PA, Barker JM, Eisenbarth GS (2011) J Clin Endocrinol Metab 96: 2154-62 Homozygosity of the polymorphism MICA5.1 identifies extreme risk of progression to overt adrenal insufficiency among 21-hydroxylase antibody-positive patients with type 1 diabetes. Triolo TM, Baschal EE, Armstrong TK, Toews CS, Fain PR, Rewers MJ, Yu L, Miao D, Eisenbarth GS, Gottlieb PA, Barker JM (2009) J Clin Endocrinol Metab 94: 4517-23 Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients. Sahakitrungruang T, Huang N, Tee MK, Agrawal V, Russell WE, Crock P, Murphy N, Migeon CJ, Miller WL (2009) J Clin Endocrinol Metab 94: 4992-5000 Association of the vitamin D metabolism gene CYP24A1 with coronary artery calcification. Shen H, Bielak LF, Ferguson JF, Streeten EA, Yerges-Armstrong LM, Liu J, Post W, O'Connell JR, Hixson JE, Kardia SL, Sun YV, Jhun MA, Wang X, Mehta NN, Li M, Koller DL, Hakonarson H, Keating BJ, Rader DJ, Shuldiner AR, Peyser PA, Reilly MP, Mitchell BD (2010) Arterioscler Thromb Vasc Biol 30: 2648-54 Distinct biochemical mechanisms for cAMP-dependent transcription of CYP17 and CYP21. Zanger UM, Kagawa N, Lund J, Waterman MR (1992) FASEB J 6: 719-23 Cytochromes P450 12: diversity of ACTH (cAMP)-dependent transcription of bovine steroid hydroxylase genes. Waterman MR, Bischof LJ (1997) FASEB J 11: 419-27 16Alpha-hydroxylation of estrone by human cytochrome P4503A4/5. Huang Z, Guengerich FP, Kaminsky LS (1998) Carcinogenesis 19: 867-72 Catalytic properties of polymorphic human cytochrome P450 1B1 variants. Shimada T, Watanabe J, Kawajiri K, Sutter TR, Guengerich FP, Gillam EM, Inoue K (1999) Carcinogenesis 20: 1607-13 Levels of messenger ribonucleic acid encoding cholesterol side-chain cleavage cytochrome P-450, 17 alpha-hydroxylase cytochrome P-450, adrenodoxin, and low density lipoprotein receptor in bovine follicles and corpora lutea throughout the ovarian cycle. Rodgers RJ, Waterman MR, Simpson ER (1987) Mol Endocrinol 1: 274-9 Research Resource: Correlating Human Cytochrome P450 21A2 Crystal Structure and Phenotypes of Mutations in Congenital Adrenal Hyperplasia. Pallan PS, Lei L, Wang C, Waterman MR, Guengerich FP, Egli M (2015) Mol Endocrinol 29: 1375-84 Activation of CYP11A and CYP11B gene promoters by the steroidogenic cell-specific transcription factor, Ad4BP. Morohashi K, Zanger UM, Honda S, Hara M, Waterman MR, Omura T (1993) Mol Endocrinol 7: 1196-204 Characterization of complementary deoxyribonucleic acid for human adrenocortical 17 alpha-hydroxylase: a probe for analysis of 17 alpha-hydroxylase deficiency. Bradshaw KD, Waterman MR, Couch RT, Simpson ER, Zuber MX (1987) Mol Endocrinol 1: 348-54 Rat P450(17 alpha) from testis: characterization of a full-length cDNA encoding a unique steroid hydroxylase capable of catalyzing both delta 4- and delta 5-steroid-17,20-lyase reactions. Fevold HR, Lorence MC, McCarthy JL, Trant JM, Kagimoto M, Waterman MR, Mason JI (1989) Mol Endocrinol 3: 968-75 Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency. Kagimoto M, Winter JS, Kagimoto K, Simpson ER, Waterman MR (1988) Mol Endocrinol 2: 564-70 Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17 alpha-hydroxylase/17,20-lyase deficiency in an Italian patient. Biason A, Mantero F, Scaroni C, Simpson ER, Waterman MR (1991) Mol Endocrinol 5: 2037-45
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