165 related articles for article (PubMed ID: 8281140)
1. A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro.
Adeyemo O; Kallio PJ; Palvimo JJ; Kontula K; Jänne OA
Hum Mol Genet; 1993 Nov; 2(11):1809-12. PubMed ID: 8281140
[TBL] [Abstract][Full Text] [Related]
2. Complete androgen insensitivity due to mutations in the probable alpha-helical segments of the DNA-binding domain in the human androgen receptor.
Beitel LK; Prior L; Vasiliou DM; Gottlieb B; Kaufman M; Lumbroso R; Alvarado C; McGillivray B; Trifiro M; Pinsky L
Hum Mol Genet; 1994 Jan; 3(1):21-7. PubMed ID: 8162033
[TBL] [Abstract][Full Text] [Related]
3. 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
[TBL] [Abstract][Full Text] [Related]
4. 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
[TBL] [Abstract][Full Text] [Related]
5. Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations.
Holterhus PM; Werner R; Hoppe U; Bassler J; Korsch E; Ranke MB; Dörr HG; Hiort O
J Mol Med (Berl); 2005 Dec; 83(12):1005-13. PubMed ID: 16283146
[TBL] [Abstract][Full Text] [Related]
6. 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; 6(2):152-62. PubMed ID: 7581399
[TBL] [Abstract][Full Text] [Related]
7. 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
[TBL] [Abstract][Full Text] [Related]
8. 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
[TBL] [Abstract][Full Text] [Related]
9. Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
Lubahn DB; Brown TR; Simental JA; Higgs HN; Migeon CJ; Wilson EM; French FS
Proc Natl Acad Sci U S A; 1989 Dec; 86(23):9534-8. PubMed ID: 2594783
[TBL] [Abstract][Full Text] [Related]
10. 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
[TBL] [Abstract][Full Text] [Related]
11. Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome.
Klocker H; Kaspar F; Eberle J; Uberreiter S; Radmayr C; Bartsch G
Am J Hum Genet; 1992 Jun; 50(6):1318-27. PubMed ID: 1598912
[TBL] [Abstract][Full Text] [Related]
12. A new mutation within the deoxyribonucleic acid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome.
Lumbroso S; Lobaccaro JM; Belon C; Martin D; Chaussain JL; Sultan C
Fertil Steril; 1993 Nov; 60(5):814-9. PubMed ID: 8224266
[TBL] [Abstract][Full Text] [Related]
13. Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.
Prior L; Bordet S; Trifiro MA; Mhatre A; Kaufman M; Pinsky L; Wrogeman K; Belsham DD; Pereira F; Greenberg C
Am J Hum Genet; 1992 Jul; 51(1):143-55. PubMed ID: 1609793
[TBL] [Abstract][Full Text] [Related]
14. Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome.
Holterhus PM; Brüggenwirth HT; Hiort O; Kleinkauf-Houcken A; Kruse K; Sinnecker GH; Brinkmann AO
J Clin Endocrinol Metab; 1997 Nov; 82(11):3584-9. PubMed ID: 9360511
[TBL] [Abstract][Full Text] [Related]
15. A single amino acid substitution (Met786----Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome.
Nakao R; Haji M; Yanase T; Ogo A; Takayanagi R; Katsube T; Fukumaki Y; Nawata H
J Clin Endocrinol Metab; 1992 May; 74(5):1152-7. PubMed ID: 1569163
[TBL] [Abstract][Full Text] [Related]
16. Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome.
Saunders PT; Padayachi T; Tincello DG; Shalet SM; Wu FC
Clin Endocrinol (Oxf); 1992 Sep; 37(3):214-20. PubMed ID: 1424203
[TBL] [Abstract][Full Text] [Related]
17. 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
[TBL] [Abstract][Full Text] [Related]
18. Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families.
Shkolny DL; Brown TR; Punnett HH; Kaufman M; Trifiro MA; Pinsky L
Hum Mol Genet; 1995 Apr; 4(4):515-21. PubMed ID: 7633398
[TBL] [Abstract][Full Text] [Related]
19. Mutant androgen receptor detected in an advanced-stage prostatic carcinoma is activated by adrenal androgens and progesterone.
Culig Z; Hobisch A; Cronauer MV; Cato AC; Hittmair A; Radmayr C; Eberle J; Bartsch G; Klocker H
Mol Endocrinol; 1993 Dec; 7(12):1541-50. PubMed ID: 8145761
[TBL] [Abstract][Full Text] [Related]
20. 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
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
