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Journal Abstract Search

496 related items for PubMed ID: 18577874

  • 1. In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits.
    Werner R, Zhan J, Gesing J, Struve D, Hiort O.
    Sex Dev; 2008; 2(2):73-83. PubMed ID: 18577874
    [Abstract] [Full Text] [Related]

  • 2. Mutations in the amino-terminal domain of the human androgen receptor may be associated with partial androgen insensitivity and impaired transactivation in vitro.
    Holterhus PM, Werner R, Struve D, Hauffa BP, Schroeder C, Hiort O.
    Exp Clin Endocrinol Diabetes; 2005 Sep; 113(8):457-63. PubMed ID: 16151980
    [Abstract] [Full Text] [Related]

  • 3. Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome.
    Jääskeläinen J, Mongan NP, Harland S, Hughes IA.
    Hum Mutat; 2006 Mar; 27(3):291. PubMed ID: 16470553
    [Abstract] [Full Text] [Related]

  • 4. Comparison of the molecular consequences of different mutations at residue 754 and 690 of the androgen receptor (AR) and androgen insensitivity syndrome (AIS) phenotype.
    Tadokoro R, Bunch T, Schwabe JW, Hughes IA, Murphy JC.
    Clin Endocrinol (Oxf); 2009 Aug; 71(2):253-60. PubMed ID: 19178528
    [Abstract] [Full Text] [Related]

  • 5. A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH-terminal domain interaction and TIF2 co-activation.
    Wong HY, Hoogerbrugge JW, Pang KL, van Leeuwen M, van Royen ME, Molier M, Berrevoets CA, Dooijes D, Dubbink HJ, van de Wijngaart DJ, Wolffenbuttel KP, Trapman J, Kleijer WJ, Drop SL, Grootegoed JA, Brinkmann AO.
    Mol Cell Endocrinol; 2008 Sep 24; 292(1-2):69-78. PubMed ID: 18656523
    [Abstract] [Full Text] [Related]

  • 6. Partial androgen insensitivity with phenotypic variation caused by androgen receptor mutations that disrupt activation function 2 and the NH(2)- and carboxyl-terminal interaction.
    Quigley CA, Tan JA, He B, Zhou ZX, Mebarki F, Morel Y, Forest MG, Chatelain P, Ritzén EM, French FS, Wilson EM.
    Mech Ageing Dev; 2004 Sep 24; 125(10-11):683-95. PubMed ID: 15541764
    [Abstract] [Full Text] [Related]

  • 7. Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome.
    Raicu F, Giuliani R, Gatta V, Palka C, Franchi PG, Lelli-Chiesa P, Tumini S, Stuppia L.
    Asian J Androl; 2008 Jul 24; 10(4):687-91. PubMed ID: 18097502
    [Abstract] [Full Text] [Related]

  • 8. Ala 586 Asp mutation in androgen receptor disrupts transactivation function without affecting androgen binding.
    Rajender S, Gupta NJ, Chakrabarty B, Singh L, Thangaraj K.
    Fertil Steril; 2009 Mar 24; 91(3):933.e23-8. PubMed ID: 19062009
    [Abstract] [Full Text] [Related]

  • 9. Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome.
    MacLean HE, Ball EM, Rekaris G, Warne GL, Zajac JD.
    Hum Mutat; 2004 Mar 24; 23(3):287. PubMed ID: 14974091
    [Abstract] [Full Text] [Related]

  • 10. Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility.
    Zuccarello D, Ferlin A, Vinanzi C, Prana E, Garolla A, Callewaert L, Claessens F, Brinkmann AO, Foresta C.
    Clin Endocrinol (Oxf); 2008 Apr 24; 68(4):580-8. PubMed ID: 17970778
    [Abstract] [Full Text] [Related]

  • 11. L859F mutation in androgen receptor gene results in complete loss of androgen binding to the receptor.
    Rajender S, Singh L, Thangaraj K.
    J Androl; 2007 Apr 24; 28(5):772-6. PubMed ID: 17522416
    [Abstract] [Full Text] [Related]

  • 12. Human androgen insensitivity syndrome.
    Brown TR.
    J Androl; 1995 Apr 24; 16(4):299-303. PubMed ID: 8537246
    [Abstract] [Full Text] [Related]

  • 13. Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome.
    Deeb A, Mason C, Lee YS, Hughes IA.
    Clin Endocrinol (Oxf); 2005 Jul 24; 63(1):56-62. PubMed ID: 15963062
    [Abstract] [Full Text] [Related]

  • 14. A naturally occurring mutation in the human androgen receptor of a subject with complete androgen insensitivity confers binding and transactivation by estradiol.
    Bonagura TW, Deng M, Brown TR.
    Mol Cell Endocrinol; 2007 Jan 15; 263(1-2):79-89. PubMed ID: 17011702
    [Abstract] [Full Text] [Related]

  • 15. Impaired helix 12 dynamics due to proline 892 substitutions in the androgen receptor are associated with complete androgen insensitivity.
    Elhaji YA, Stoica I, Dennis S, Purisima EO, Lumbroso R, Beitel LK, Trifiro MA.
    Hum Mol Genet; 2006 Mar 15; 15(6):921-31. PubMed ID: 16449235
    [Abstract] [Full Text] [Related]

  • 16. Genotype versus phenotype in families with androgen insensitivity syndrome.
    Boehmer AL, Brinkmann O, Brüggenwirth H, van Assendelft C, Otten BJ, Verleun-Mooijman MC, Niermeijer MF, Brunner HG, Rouwé CW, Waelkens JJ, Oostdijk W, Kleijer WJ, van der Kwast TH, de Vroede MA, Drop SL.
    J Clin Endocrinol Metab; 2001 Sep 15; 86(9):4151-60. PubMed ID: 11549642
    [Abstract] [Full Text] [Related]

  • 17. Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development.
    Barbaro M, Oscarson M, Almskog I, Hamberg H, Wedell A.
    Clin Endocrinol (Oxf); 2007 Jun 15; 66(6):822-6. PubMed ID: 17408421
    [Abstract] [Full Text] [Related]

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  • 20. Bridging structural biology and genetics by computational methods: an investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndrome.
    Wu JH, Gottlieb B, Batist G, Sulea T, Purisima EO, Beitel LK, Trifiro M.
    Hum Mutat; 2003 Dec 15; 22(6):465-75. PubMed ID: 14635106
    [Abstract] [Full Text] [Related]

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