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Journal Abstract Search

338 related items for PubMed ID: 8413310

  • 1. A point mutation in the second zinc finger of the DNA-binding domain of the androgen receptor gene causes complete androgen insensitivity in two siblings with receptor-positive androgen resistance.
    Mowszowicz I, Lee HJ, Chen HT, Mestayer C, Portois MC, Cabrol S, Mauvais-Jarvis P, Chang C.
    Mol Endocrinol; 1993 Jul; 7(7):861-9. PubMed ID: 8413310
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  • 2. Partial androgen insensitivity caused by an androgen receptor mutation at amino acid 907 (Gly-->Arg) that results in decreased ligand binding affinity and reduced androgen receptor messenger ribonucleic acid levels.
    Choong CS, Sturm MJ, Strophair JA, McCulloch RK, Tilley WD, Leedman PJ, Hurley DM.
    J Clin Endocrinol Metab; 1996 Jan; 81(1):236-43. PubMed ID: 8550758
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  • 3. 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 Jan; 6(2):152-62. PubMed ID: 7581399
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  • 4. Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity.
    Brown TR, Lubahn DB, Wilson EM, French FS, Migeon CJ, Corden JL.
    Mol Endocrinol; 1990 Dec; 4(12):1759-72. PubMed ID: 2082179
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  • 5. Complete androgen insensitivity due to deletion of exon C of the androgen receptor gene highlights the functional importance of the second zinc finger of the androgen receptor in vivo.
    Quigley CA, Evans BA, Simental JA, Marschke KB, Sar M, Lubahn DB, Davies P, Hughes IA, Wilson EM, French FS.
    Mol Endocrinol; 1992 Jul; 6(7):1103-12. PubMed ID: 1508223
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  • 6. A novel substitution (Leu707Arg) in exon 4 of the androgen receptor gene causes complete androgen resistance.
    Lumbroso S, Lobaccaro JM, Georget V, Leger J, Poujol N, Térouanne B, Evain-Brion D, Czernichow P, Sultan C.
    J Clin Endocrinol Metab; 1996 May; 81(5):1984-8. PubMed ID: 8626869
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  • 7. A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome.
    Nakao R, Yanase T, Sakai Y, Haji M, Nawata H.
    J Clin Endocrinol Metab; 1993 Jul; 77(1):103-7. PubMed ID: 8325932
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  • 12. A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance.
    Marcelli M, Zoppi S, Grino PB, Griffin JE, Wilson JD, McPhaul MJ.
    J Clin Invest; 1991 Mar; 87(3):1123-6. PubMed ID: 1999491
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  • 14. Substitution of aspartic acid-686 by histidine or asparagine in the human androgen receptor leads to a functionally inactive protein with altered hormone-binding characteristics.
    Ris-Stalpers C, Trifiro MA, Kuiper GG, Jenster G, Romalo G, Sai T, van Rooij HC, Kaufman M, Rosenfield RL, Liao S.
    Mol Endocrinol; 1991 Oct; 5(10):1562-9. PubMed ID: 1775137
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  • 16. Androgen resistance associated with a mutation of the androgen receptor at amino acid 772 (Arg----Cys) results from a combination of decreased messenger ribonucleic acid levels and impairment of receptor function.
    Marcelli M, Tilley WD, Zoppi S, Griffin JE, Wilson JD, McPhaul MJ.
    J Clin Endocrinol Metab; 1991 Aug; 73(2):318-25. PubMed ID: 1856263
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  • 17. Specific region in hormone binding domain is essential for hormone binding and trans-activation by human androgen receptor.
    Govindan MV.
    Mol Endocrinol; 1990 Mar; 4(3):417-27. PubMed ID: 2342476
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  • 18. Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.
    De Bellis A, Quigley CA, Marschke KB, el-Awady MK, Lane MV, Smith EP, Sar M, Wilson EM, French FS.
    J Clin Endocrinol Metab; 1994 Mar; 78(3):513-22. PubMed ID: 8126121
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  • 20. Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes.
    Kazemi-Esfarjani P, Beitel LK, Trifiro M, Kaufman M, Rennie P, Sheppard P, Matusik R, Pinsky L.
    Mol Endocrinol; 1993 Jan; 7(1):37-46. PubMed ID: 8446106
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