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Journal Abstract Search


433 related items for PubMed ID: 15541764

  • 1. 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; 125(10-11):683-95. PubMed ID: 15541764
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  • 2. 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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  • 3. 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]

  • 4. 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 24; 113(8):457-63. PubMed ID: 16151980
    [Abstract] [Full Text] [Related]

  • 5. Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome.
    Jääskeläinen J, Mongan NP, Harland S, Hughes IA.
    Hum Mutat; 2006 Mar 24; 27(3):291. PubMed ID: 16470553
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  • 7. 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 Mar 24; 2(2):73-83. PubMed ID: 18577874
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  • 8. 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 24; 71(2):253-60. PubMed ID: 19178528
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  • 9. 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
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  • 10. 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 15; 63(1):56-62. PubMed ID: 15963062
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 10(4):687-91. PubMed ID: 18097502
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  • 14. 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 15; 23(3):287. PubMed ID: 14974091
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  • 15. 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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  • 16. Functional in vivo interaction between the amino-terminal, transactivation domain and the ligand binding domain of the androgen receptor.
    Doesburg P, Kuil CW, Berrevoets CA, Steketee K, Faber PW, Mulder E, Brinkmann AO, Trapman J.
    Biochemistry; 1997 Feb 04; 36(5):1052-64. PubMed ID: 9033395
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  • 17. Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome.
    Radmayr C, Culig Z, Glatzl J, Neuschmid-Kaspar F, Bartsch G, Klocker H.
    J Urol; 1997 Oct 04; 158(4):1553-6. PubMed ID: 9302173
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  • 18. Functional characterisation of a natural androgen receptor missense mutation (N771H) causing human androgen insensitivity syndrome.
    Cai J, Cai LQ, Hong Y, Zhu YS.
    Andrologia; 2012 May 04; 44 Suppl 1():523-9. PubMed ID: 21950590
    [Abstract] [Full Text] [Related]

  • 19. Disrupted amino- and carboxyl-terminal interactions of the androgen receptor are linked to androgen insensitivity.
    Thompson J, Saatcioglu F, Jänne OA, Palvimo JJ.
    Mol Endocrinol; 2001 Jun 04; 15(6):923-35. PubMed ID: 11376111
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