Clinical and molecular aspects of androgen insensitivity

O Hiort - Hormone Resistance and Hypersensitivity, 2013 - karger.com
Androgen insensitivity describes the inability of cells to respond adequately to androgens.
The clinical aspects are well characterized and described in the androgen insensitivity …

The molecular basis of androgen insensitivity

EM Nitsche, O Hiort - Hormone Research, 2000 - karger.com
Androgen action is mediated in the peripheral target cell via the androgen receptor (AR).
The AR is a nuclear transcription factor, combining a DNA-binding and a hormone-binding …

Mutations of androgen receptor gene in androgen insensitivity syndromes

C Sultan, S Lumbroso, N Poujol, C Belon… - The Journal of steroid …, 1993 - Elsevier
The androgen receptor belongs to the family of steroid-tyroid hormone-retinoid nuclear
receptors. It contains 3 major domains: a hormone-binding region, a DNA-binding region …

Response to treatment in patients with partial androgen insensitivity due to mutations in the DNA-binding domain of the androgen receptor

Y Lundberg Giwercman, A Nikoshkov, K Lindsten… - Hormone …, 2000 - karger.com
The androgen insensitivity syndrome is a disorder caused by deficient function of the
androgen receptor, characterized by varying degrees of undermasculinization in karyotypic …

Complete androgen insensitivity syndrome caused by a novel mutation in the ligand-binding domain of the androgen receptor: functional characterization

S Rosa, A Biason-Lauber, NP Mongan… - The Journal of …, 2002 - academic.oup.com
Mutations in the X-linked androgen receptor (AR) gene cause the androgen insensitivity
syndrome by impairing androgen-dependent male sexual differentiation to varying degrees …

Androgen receptor mutations and androgen insensitivity

MJ McPhaul - Molecular and cellular endocrinology, 2002 - Elsevier
The androgen receptor (AR) is a high affinity receptor protein encoded on the human X-
chromosome that mediates the actions of androgens during development and in the adult …

Molecular basis of androgen insensitivity

A Brinkmann, G Jenster, C Ris-Stalpers… - Steroids, 1996 - Elsevier
Male sexual differentiation and development proceed under direct control of androgens.
Androgen action is mediated by the intracellular androgen receptor, which belongs to the …

[引用][C] Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys→ Phe substitution in the second zinc finger of the …

L Baldazzl, C Baronclnl, P PIrazzoll… - Human molecular …, 1994 - academic.oup.com
Androgen insensitivity syndrome (AIS) is a disorder of male sexual development which
includes a wide spectrum of phenotypic abnormalities in 46, XY individuals ranging from …

Androgen resistance

IA Hughes, A Deeb - Best practice & research Clinical endocrinology & …, 2006 - Elsevier
Androgen resistance causes the androgen insensitivity syndrome in its variant forms and is
a paradigm of clinical syndromes associated with hormone resistance. In its complete form …

Androgen insensitivity syndrome: clinical features and molecular defects

A Galani, S Kitsiou-Tzeli, C Sofokleous, E Kanavakis… - Hormones, 2008 - Springer
The end-organ resistance to androgens has been designated as Androgen Insensitivity
Syndrome (AIS), an X-linked disorder caused by mutations in the Androgen Receptor (AR) …