148 related articles for article (PubMed ID: 7626447)
1. 17 alpha-Hydroxylase/17,20-lyase defects.
Yanase T
J Steroid Biochem Mol Biol; 1995 Jun; 53(1-6):153-7. PubMed ID: 7626447
[TBL] [Abstract][Full Text] [Related]
2. 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
[TBL] [Abstract][Full Text] [Related]
3. 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
J Clin Endocrinol Metab; 1992 Mar; 74(3):667-72. PubMed ID: 1740503
[TBL] [Abstract][Full Text] [Related]
4. 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; 1139(4):275-9. PubMed ID: 1515452
[TBL] [Abstract][Full Text] [Related]
5. Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients.
Laflamme N; Leblanc JF; Mailloux J; Faure N; Labrie F; Simard J
J Clin Endocrinol Metab; 1996 Jan; 81(1):264-8. PubMed ID: 8550762
[TBL] [Abstract][Full Text] [Related]
6. 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; 70(5):1325-9. PubMed ID: 2335573
[TBL] [Abstract][Full Text] [Related]
7. 17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition.
Yanase T; Simpson ER; Waterman MR
Endocr Rev; 1991 Feb; 12(1):91-108. PubMed ID: 2026124
[No Abstract] [Full Text] [Related]
8. 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
Mol Endocrinol; 1991 Dec; 5(12):2037-45. PubMed ID: 1665206
[TBL] [Abstract][Full Text] [Related]
9. Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families.
Kagimoto K; Waterman MR; Kagimoto M; Ferreira P; Simpson ER; Winter JS
Hum Genet; 1989 Jun; 82(3):285-6. PubMed ID: 2786493
[TBL] [Abstract][Full Text] [Related]
10. Molecular cloning and expression of guinea pig cytochrome P450c17 cDNA (steroid 17 alpha-hydroxylase/17,20 lyase): tissue distribution, regulation, and substrate specificity of the expressed enzyme.
Tremblay Y; Fleury A; Beaudoin C; Vallée M; Bélanger A
DNA Cell Biol; 1994 Dec; 13(12):1199-212. PubMed ID: 7811386
[TBL] [Abstract][Full Text] [Related]
11. Combined 17-hydroxylase and 17,20-desmolase deficiencies: evidence for synthesis of a defective cytochrome P450c17.
Winter JS; Couch RM; Muller J; Perry YS; Ferreira P; Baydala L; Shackleton CH
J Clin Endocrinol Metab; 1989 Feb; 68(2):309-16. PubMed ID: 2493025
[TBL] [Abstract][Full Text] [Related]
12. Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.
Yanase T; Kagimoto M; Suzuki S; Hashiba K; Simpson ER; Waterman MR
J Biol Chem; 1989 Oct; 264(30):18076-82. PubMed ID: 2808364
[TBL] [Abstract][Full Text] [Related]
13. Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17 alpha-hydroxylase cytochrome P-450.
Yanase T; Kagimoto M; Matsui N; Simpson ER; Waterman MR
Mol Cell Endocrinol; 1988 Oct; 59(3):249-53. PubMed ID: 3263289
[TBL] [Abstract][Full Text] [Related]
14. Disorders of steroid 17 alpha-hydroxylase deficiency.
Kater CE; Biglieri EG
Endocrinol Metab Clin North Am; 1994 Jun; 23(2):341-57. PubMed ID: 8070426
[TBL] [Abstract][Full Text] [Related]
15. 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
Mol Endocrinol; 1988 Jun; 2(6):564-70. PubMed ID: 2843762
[TBL] [Abstract][Full Text] [Related]
16. Combined 17 alpha-hydroxylase/17,20-lyase deficiency caused by heterozygous stop codons in the cytochrome P450 17 alpha-hydroxylase gene.
Rumsby G; Skinner C; Lee HA; Honour JW
Clin Endocrinol (Oxf); 1993 Oct; 39(4):483-5. PubMed ID: 8287576
[TBL] [Abstract][Full Text] [Related]
17. 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
[TBL] [Abstract][Full Text] [Related]
18. 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
[TBL] [Abstract][Full Text] [Related]
19. 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; 91(6):2428-31. PubMed ID: 16569739
[TBL] [Abstract][Full Text] [Related]
20. Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.
Fardella CE; Zhang LH; Mahachoklertwattana P; Lin D; Miller WL
J Clin Endocrinol Metab; 1993 Aug; 77(2):489-93. PubMed ID: 8345056
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
