These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

62 related articles for article (PubMed ID: 14552332)

  • 1. Gene symbol: M19489, CYP17. Disease: 17-alpha-hydroxylase/17,20-lyase deficiency.
    Hong T; Zhao-Lin L
    Hum Genet; 2003 Oct; 113(5):465. PubMed ID: 14552332
    [No Abstract]   [Full Text] [Related]  

  • 2. Gene symbol: CYp17, M19489. Disease: 17-alpha-hydroxylase/17,20-lyase deficiency.
    Hong T; Zhao-Lin L
    Hum Genet; 2003 Oct; 113(5):465. PubMed ID: 14552333
    [No Abstract]   [Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Gene symbol: CYP17A1. Disease: Steroid 17-alpha-hydrolylase deficiency.
    Patocs AP; Liko I; Racz K
    Hum Genet; 2005 May; 116(6):539. PubMed ID: 15991317
    [No Abstract]   [Full Text] [Related]  

  • 6. A novel compound heterozygous mutation in the CYP17 (P450 17alpha-hydroxylase) gene leading to 17alpha-hydroxylase/17,20-lyase deficiency.
    Hahm JR; Kim DR; Jeong DK; Chung JH; Lee MS; Min YK; Kim KW; Lee MK
    Metabolism; 2003 Apr; 52(4):488-92. PubMed ID: 12701064
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency.
    Biason-Lauber A; Leiberman E; Zachmann M
    J Clin Endocrinol Metab; 1997 Nov; 82(11):3807-12. PubMed ID: 9360545
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. A compound heterozygous mutation in the CYP17 (17alpha-hydroxylase/17,20-lyase) gene in a Chinese subject with congenital adrenal hyperplasia.
    Won GS; Chiu CY; Tso YC; Jenq SF; Cheng PS; Jap TS
    Metabolism; 2007 Apr; 56(4):504-7. PubMed ID: 17379008
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. A 5'-splice site mutation in the cytochrome P450 steroid 17alpha-hydroxylase gene in 17alpha-hydroxylase deficiency.
    Yamaguchi H; Nakazato M; Miyazato M; Kangawa K; Matsukura S
    J Clin Endocrinol Metab; 1997 Jun; 82(6):1934-8. PubMed ID: 9177409
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Gene symbol: CYP17A1. Disease: 17-alpha-hydroxylase/17,20-lyase deficiency.
    Hong T; Zhao-lin L
    Hum Genet; 2003 Sep; 113(4):367. PubMed ID: 12974278
    [No Abstract]   [Full Text] [Related]  

  • 16. Novel human pathological mutations. Gene symbol: CYP17A1. Disease: 17-alpha-hydroxylase/17,20-lyase deficiency.
    Yao F; qinjie T
    Hum Genet; 2009 Apr; 125(3):351. PubMed ID: 19320038
    [No Abstract]   [Full Text] [Related]  

  • 17. Gene symbol: CYP17A1. Disease: 17-alpha-hydroxylase/17,20-lyase deficiency.
    Hong T; Zhao-lin L
    Hum Genet; 2003 Sep; 113(4):369. PubMed ID: 12974282
    [No Abstract]   [Full Text] [Related]  

  • 18. 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]  

  • 19. Lysine mutagenesis identifies cationic charges of human CYP17 that interact with cytochrome b5 to promote male sex-hormone biosynthesis.
    Lee-Robichaud P; Akhtar ME; Akhtar M
    Biochem J; 1999 Sep; 342 ( Pt 2)(Pt 2):309-12. PubMed ID: 10455016
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 4.