Molecular defects of the androgen receptor

Recent Progress in Hormone Research

Volumn 57, Issue , 2002, Pages 181-194

  McPhaul, Michael J ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR;

AMINO ACID SUBSTITUTION; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; BREAST DEVELOPMENT; DNA BINDING; FEMALE GENITAL SYSTEM; GENE MUTATION; HORMONE RESISTANCE; INFERTILITY; LIGAND BINDING; OPEN READING FRAME; PHENOTYPE; PROTEIN DOMAIN; PROTEIN LOCALIZATION; SEXUAL DEVELOPMENT; TESTICULAR FEMINIZATION;

ANDROGENS; ANIMALS; CLONING, MOLECULAR; DRUG RESISTANCE; HUMANS; MALE; MUTATION; RECEPTORS, ANDROGEN;

EID: 0036374390     PISSN: 00799963     EISSN: None     Source Type: Journal    
DOI: 10.1210/rp.57.1.181     Document Type: Article

References (48)

1. Pseudo-hypoparathyroidism - An example of the "Seabright Bantam Syndrome."
2. Immunoreactive androgen receptor (AR) in genital skin fibroblasts from subjects with androgen resistance and undetectable levels of AR in ligand binding assays
3. Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance
4. Complete androgen insensitivity due to mutations in the probable alpha-helical segments of the DNA-binding domain in the human androgen receptor
5. Human complete androgen insensitivity with normal dihydrotestosterone receptor binding capacity in cultured genital skin fibroblasts: Evidence for a qualitative abnormality of the receptor
6. Structural analysis of complementary DNA and amino acid sequences of human and rat androgen receptor
7. A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation
8. Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome
9. The N-terminal domain of the human androgen receptor is encoded by one, large exon
10. Functional activities of the A- and B- forms of the human androgen receptor in response to androgen receptor agonists and antagonists
11. Transcriptional activation and transient expression of the human androgen receptor
12. Androgen resistance - The clinical and molecular spectrum
13. Qualitative receptor defects in families with androgen resistance: Failure of stabilization of the fibroblast cytosol androgen receptor
14. The androgen resistance syndromes: Steroid 5-reductase 2 deficiency, testicular feminization, and related disorders
15. Androgen resistance associated with a qualitative abnormality of the androgen receptor and responsive to high dose androgen therapy
16. 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
17. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
18. The human androgen receptor: Complementary deoxyribonucleic acid cloning, sequence analysis and gene expression in prostate
19. A new mutation within the deoxyribonucleic acid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome
20. The nuclear receptor superfamily: The second decade
21. 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
22. Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex
23. Structural evidence for ligand specificity in the binding domain of human androgen receptor. Implications for pathogenic gene mutations
24. The androgen receptor in syndromes of androgen insensitivity and in prostate cancer
25. Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene
26. The spectrum of mutations in the androgen receptor gene that causes androgen resistance
27. Studies of the locus for androgen receptor: Localization on the human X chromosome and evidence for homology with the Tfm locus in the mouse
28. The syndrome of testicular feminization in male pseudohermaphrodites
29. Further observations on the syndrome, "testicular feminization"
30. 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
31. Congenital androgen insensitivity due to a qualitatively abnormal androgen receptor
32. Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes
33. Androgen receptor defects: Historical, clinical, and molecular perspectives
34. Hereditary familial hypogonadism
35. 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
36. Differential splicing of human androgen receptor pre-mRNA in X-linked Reifenstein syndrome, because of a deletion involving a putative branch site
37. Familial gynecomastia
38. Novel point mutation in the splice donor site of exon-intron junction 6 of the androgen receptor gene in a patient with partial androgen insensitivity syndrome
39. Mutations of androgen receptor gene in androgen insensitivity syndromes
40. Characterization and expression of a cDNA encoding the human androgen receptor
41. Correlation of clinical, endocrine and molecular abnormalities with in vivo responses to high-dose testosterone in patients with partial androgen insensitivity syndrome
42. Abnormal sex differentiation: Hermaphroditism and gonadal dysgenesis
43. A and B forms of the androgen receptor are present in human genital skin fibroblasts
44. A and B forms of the androgen receptor are expressed in a variety of human tissues
45. Familial incomplete male pseudohermaphrodifism, type 1. Evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome
46. Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance
47. Complete testicular feminization caused by an amino-terminal truncation of the androgen receptor with downstream initiation
48. Regulation of gene expression by the nuclear receptor family