BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

182 related articles for article (PubMed ID: 18445671)

  • 1. Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.
    Riepe FG; Hiort O; Grötzinger J; Sippell WG; Krone N; Holterhus PM
    J Clin Endocrinol Metab; 2008 Jul; 93(7):2891-5. PubMed ID: 18445671
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Krone N; Riepe FG; Grötzinger J; Partsch CJ; Sippell WG
    J Clin Endocrinol Metab; 2005 Jan; 90(1):445-54. PubMed ID: 15483094
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. The residue E351 is essential for the activity of human 21-hydroxylase: evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutions.
    Krone N; Riepe FG; Grötzinger J; Partsch CJ; Brämswig J; Sippell WG
    J Mol Med (Berl); 2005 Jul; 83(7):561-8. PubMed ID: 15830218
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.
    Robins T; Carlsson J; Sunnerhagen M; Wedell A; Persson B
    Mol Endocrinol; 2006 Nov; 20(11):2946-64. PubMed ID: 16788163
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia.
    Robins T; Bellanne-Chantelot C; Barbaro M; Cabrol S; Wedell A; Lajic S
    J Mol Med (Berl); 2007 Mar; 85(3):247-55. PubMed ID: 17119906
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Krone N; Riepe FG; Partsch CJ; Vorhoff W; Brämswig J; Sippell WG
    Exp Clin Endocrinol Diabetes; 2006 Mar; 114(3):111-7. PubMed ID: 16636976
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.
    Kawashima Y; Usui T; Fujimoto M; Miyahara N; Nishimura R; Hanaki K; Kanzaki S
    Endocr J; 2015; 62(1):101-6. PubMed ID: 25319875
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations.
    Concolino P; Mello E; Zuppi C; Capoluongo E
    Clin Chem Lab Med; 2010 Aug; 48(8):1057-62. PubMed ID: 20482300
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.
    Menassa R; Tardy V; Despert F; Bouvattier-Morel C; Brossier JP; Cartigny M; Morel Y
    J Clin Endocrinol Metab; 2008 May; 93(5):1901-8. PubMed ID: 18319307
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency.
    Araújo RS; Mendonca BB; Barbosa AS; Lin CJ; Marcondes JA; Billerbeck AE; Bachega TA
    J Clin Endocrinol Metab; 2007 Oct; 92(10):4028-34. PubMed ID: 17666484
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [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]  

  • 15. Novel mutations in CYP21 detected in individuals with hyperandrogenism.
    Lajić S; Clauin S; Robins T; Vexiau P; Blanché H; Bellanne-Chantelot C; Wedell A
    J Clin Endocrinol Metab; 2002 Jun; 87(6):2824-9. PubMed ID: 12050257
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene.
    Krone N; Riepe FG; Götze D; Korsch E; Rister M; Commentz J; Partsch CJ; Grötzinger J; Peter M; Sippell WG
    J Clin Endocrinol Metab; 2005 Jun; 90(6):3724-30. PubMed ID: 15755848
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia.
    Dolzan V; Sólyom J; Fekete G; Kovács J; Rakosnikova V; Votava F; Lebl J; Pribilincova Z; Baumgartner-Parzer SM; Riedl S; Waldhauser F; Frisch H; Stopar-Obreza M; Krzisnik C; Battelino T
    Eur J Endocrinol; 2005 Jul; 153(1):99-106. PubMed ID: 15994751
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Functional and structural analysis of four novel mutations of CYP21A2 gene in Italian patients with 21-hydroxylase deficiency.
    Massimi A; Malaponti M; Federici L; Vinciguerra D; Manca Bitti ML; Vottero A; Ghizzoni L; Maccarrone M; Cappa M; Bernardini S; Porzio O
    Horm Metab Res; 2014 Jun; 46(7):515-20. PubMed ID: 24799024
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Combined homozygous 21 hydroxylase with heterozygous P450 oxidoreductase mutation in a Saudi boy presented with hypertension.
    Aljabri A; Alnaim F; Alsaleh Y
    BMJ Case Rep; 2020 Sep; 13(9):. PubMed ID: 32994263
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [From gene to disease: adrenogenital syndrome and the CYP21A2 gene].
    Claahsen-van der Grinten HL; Hoefsloot LH
    Ned Tijdschr Geneeskd; 2007 May; 151(21):1174-7. PubMed ID: 17557757
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.