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Journal Abstract Search

547 related items for PubMed ID: 16470553

  • 1. 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
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  • 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
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  • 3. 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; 23(3):287. PubMed ID: 14974091
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  • 5. 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
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  • 7. 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 Mar 15; 28(5):772-6. PubMed ID: 17522416
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  • 8. 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 Mar 15; 125(10-11):683-95. PubMed ID: 15541764
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  • 11. 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 15; 91(3):933.e23-8. PubMed ID: 19062009
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  • 13. Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain.
    Murono K, Mendonca BB, Arnhold IJ, Rigon AC, Migeon CJ, Brown TR.
    Hum Mutat; 1995 Mar 15; 6(2):152-62. PubMed ID: 7581399
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  • 15. [Mutation analysis of the androgen receptor gene in a complete androgen insensitivity syndrome family].
    Wu W, Luo F, Geng Q, Hao Y, Chen W, Cai J, Xie J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Dec 15; 26(6):606-9. PubMed ID: 19953479
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  • 16. 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
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  • 17. A novel androgen receptor mutation resulting in complete androgen insensitivity syndrome and bilateral Leydig cell hyperplasia.
    Singh R, Shastry PK, Rasalkar AA, Singh L, Thangaraj K.
    J Androl; 2006 Dec 15; 27(4):510-6. PubMed ID: 16582414
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  • 19. [An acceptor-splice-site mutation responsible for complete androgen insensitivity syndrome].
    Zhang W, Li X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Feb 15; 18(1):14-6. PubMed ID: 11172634
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  • 20. 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
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