347 related articles for article (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
[TBL] [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
[TBL] [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
[TBL] [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
[TBL] [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
[TBL] [Abstract][Full Text] [Related]
6. The molecular basis of isolated 17,20 lyase deficiency.
Miller WL; Geller DH; Auchus RJ
Endocr Res; 1998; 24(3-4):817-25. PubMed ID: 9888582
[TBL] [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; 278(49):48563-9. PubMed ID: 14504283
[TBL] [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; 59(2):275-8. PubMed ID: 19793597
[TBL] [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; 17(2):201-5. PubMed ID: 9326943
[TBL] [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; 73(3):198-204. PubMed ID: 20197673
[TBL] [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; 91(6):2428-31. PubMed ID: 16569739
[TBL] [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; 87(2):898-905. PubMed ID: 11836339
[TBL] [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
[TBL] [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; 28(4):443-7. PubMed ID: 12530647
[TBL] [Abstract][Full Text] [Related]
15. The regulation of 17,20 lyase activity.
Miller WL; Auchus RJ; Geller DH
Steroids; 1997 Jan; 62(1):133-42. PubMed ID: 9029728
[TBL] [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; 55(3):141-6. PubMed ID: 11549876
[TBL] [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; 90(7):4362-5. PubMed ID: 15811924
[TBL] [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; 172(5):K19-25. PubMed ID: 25650406
[TBL] [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; 28(7):573-6. PubMed ID: 22452398
[TBL] [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; 158(3):385-92. PubMed ID: 18299473
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]