71 related articles for article (PubMed ID: 10198222)
1. Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21).
Lajic S; Nikoshkov A; Holst M; Wedell A
Biochem Biophys Res Commun; 1999 Apr; 257(2):384-90. PubMed ID: 10198222
[TBL] [Abstract][Full Text] [Related]
2. Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability.
Nikoshkov A; Lajic S; Vlamis-Gardikas A; Tranebjaerg L; Holst M; Wedell A; Luthman H
J Biol Chem; 1998 Mar; 273(11):6163-5. PubMed ID: 9497336
[TBL] [Abstract][Full Text] [Related]
3. CYP21 mutations in simple virilizing congenital adrenal hyperplasia.
Lajić S; Robins T; Krone N; Schwarz HP; Wedell A
J Mol Med (Berl); 2001 Oct; 79(10):581-6. PubMed ID: 11692155
[TBL] [Abstract][Full Text] [Related]
4. Molecular cloning and expression of guinea pig cytochrome P450c21 cDNA (steroid 21-hydroxylase) isolated from the adrenals.
Martineau I; Bélanger A; Tchernof A; Tremblay Y
J Steroid Biochem Mol Biol; 2003 Aug; 86(2):123-32. PubMed ID: 14568563
[TBL] [Abstract][Full Text] [Related]
5. [Expression of the human steroid 21-hydroxylase gene and its mutant variant C169R in insect cells and functional analysis of expression products].
Grishchuk IuV; Rubtsov PM; Belzhelarskaia SN
Mol Biol (Mosk); 2007; 41(1):71-8. PubMed ID: 17380893
[TBL] [Abstract][Full Text] [Related]
6. Expression of human 21-hydroxylase (P450c21) in bacterial and mammalian cells: a system to characterize normal and mutant enzymes.
Hu MC; Chung BC
Mol Endocrinol; 1990 Jun; 4(6):893-8. PubMed ID: 2233746
[TBL] [Abstract][Full Text] [Related]
7. Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein.
Janner M; Pandey AV; Mullis PE; Flück CE
Eur J Endocrinol; 2006 Jul; 155(1):143-51. PubMed ID: 16793961
[TBL] [Abstract][Full Text] [Related]
8. Functional analysis of four CYP21 mutations from spanish patients with congenital adrenal hyperplasia.
Nunez BS; Lobato MN; White PC; Meseguer A
Biochem Biophys Res Commun; 1999 Sep; 262(3):635-7. PubMed ID: 10471376
[TBL] [Abstract][Full Text] [Related]
9. Expression and functional study of wild-type and mutant human cytochrome P450c21 in Saccharomyces cerevisiae.
Wu DA; Hu MC; Chung BC
DNA Cell Biol; 1991 Apr; 10(3):201-9. PubMed ID: 1707279
[TBL] [Abstract][Full Text] [Related]
10. Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.
Nikoshkov A; Lajic S; Holst M; Wedell A; Luthman H
J Clin Endocrinol Metab; 1997 Jan; 82(1):194-9. PubMed ID: 8989258
[TBL] [Abstract][Full Text] [Related]
11. Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.
Grischuk Y; Rubtsov P; Riepe FG; Grötzinger J; Beljelarskaia S; Prassolov V; Kalintchenko N; Semitcheva T; Peterkova V; Tiulpakov A; Sippell WG; Krone N
J Clin Endocrinol Metab; 2006 Dec; 91(12):4976-80. PubMed ID: 16984992
[TBL] [Abstract][Full Text] [Related]
12. Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively.
Wu DA; Chung BC
J Clin Invest; 1991 Aug; 88(2):519-23. PubMed ID: 1864962
[TBL] [Abstract][Full Text] [Related]
13. Extraadrenal steroid 21-hydroxylation is not mediated by P450c21.
Mellon SH; Miller WL
J Clin Invest; 1989 Nov; 84(5):1497-502. PubMed ID: 2808702
[TBL] [Abstract][Full Text] [Related]
14. The N-terminal hydrophobic domain of P450c21 is required for membrane insertion and enzyme stability.
Hsu LC; Hu MC; Cheng HC; Lu JC; Chung BC
J Biol Chem; 1993 Jul; 268(20):14682-6. PubMed ID: 8325846
[TBL] [Abstract][Full Text] [Related]
15. Mutations in steroid 21-hydroxylase (CYP21).
White PC; Tusie-Luna MT; New MI; Speiser PW
Hum Mutat; 1994; 3(4):373-8. PubMed ID: 8081391
[TBL] [Abstract][Full Text] [Related]
16. Interrenal steroid 21-hydroxylase in eels: primary structure, progesterone-specific activity and enhanced expression by ACTH.
Li YY; Inoue K; Takei Y
J Mol Endocrinol; 2003 Oct; 31(2):327-40. PubMed ID: 14519100
[TBL] [Abstract][Full Text] [Related]
17. A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction.
Lajic S; Levo A; Nikoshkov A; Lundberg Y; Partanen J; Wedell A
Hum Genet; 1997 Jun; 99(6):704-9. PubMed ID: 9187661
[TBL] [Abstract][Full Text] [Related]
18. Expression of bovine cytochrome P450c21 and its fused enzymes with yeast NADPH-cytochrome P450 reductase in Saccharomyces cerevisiae.
Sakaki T; Shibata M; Yabusaki Y; Murakami H; Ohkawa H
DNA Cell Biol; 1990 Oct; 9(8):603-14. PubMed ID: 2125425
[TBL] [Abstract][Full Text] [Related]
19. Functional studies of two novel and two rare mutations in the 21-hydroxylase gene.
Barbaro M; Baldazzi L; Balsamo A; Lajic S; Robins T; Barp L; Pirazzoli P; Cacciari E; Cicognani A; Wedell A
J Mol Med (Berl); 2006 Jun; 84(6):521-8. PubMed ID: 16541276
[TBL] [Abstract][Full Text] [Related]
20. Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia.
Robins T; Barbaro M; Lajic S; Wedell A
J Clin Endocrinol Metab; 2005 Apr; 90(4):2148-53. PubMed ID: 15623806
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]