• Publications
  • Influence
Testosterone at high concentrations interacts with the human androgen receptor similarly to dihydrotestosterone.
Testosterone and dihydrotestosterone are believed to exert their androgenic effects by interacting with a single intracellular receptor protein in androgen target tissues. During fetal life, however,Expand
  • 367
  • 9
A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance.
Androgen resistance is associated with a wide range of quantitative and qualitative defects in the androgen receptor. However, fibroblast cultures from approximately 10% of patients with theExpand
  • 75
  • 1
  • PDF
A mutation of the androgen receptor associated with partial androgen resistance, familial gynecomastia, and fertility.
A family is described in which gynecomastia and undervirilization in five men (four of whom have fathered children) were inherited in a manner compatible with an X-linked defect. Three members fromExpand
  • 62
  • 1
Androgen resistance due to decreased amounts of androgen receptor: a reinvestigation.
To provide insight into the pathogenesis of the androgen resistance in a previously described family with X-linked Reifenstein syndrome, we have systematically assessed a variety of parameters ofExpand
  • 9
  • 1
Androgen resistance associated with a qualitative abnormality of the androgen receptor and responsive to high dose androgen therapy.
A 46,XY infant with perineoscrotal hypospadias and microphallus was identified in a family in which seven individuals have severe hypospadias that is inherited in a pattern compatible with anExpand
  • 76
Transformation of the androgen receptor to the deoxyribonucleic acid-binding state: studies in homogenates and intact cells.
Transformation of the [3H]dihydrotestosterone-receptor complex to the DNA-binding state was studied in intact monolayers and in homogenates of cultured human fibroblasts and mouse L-cells. WhenExpand
  • 15
Estrogen and androgen production rates in two brothers with Reifenstein syndrome.
Defects of the androgen receptor in 46,XY individuals cause aberrant virilization that varies from a female phenotype to men with minor defects. More severely affected individuals also developExpand
  • 6