Kennedy's disease is an X-linked recessive disorder with onset in adulthood, characterized by progressive degeneration of spinal motor neurons due to a dynamic mutation in the androgen receptor gene. We report three families (five cases) characterized by progressive weakness involving both limbs and bulbar muscles, atrophy, tremor, cramps and endocrinologic disturbances; the neurophysiological ...

BACKGROUND/AIMS Fetuin-A (alpha-2-HS-glycoprotein, AHSG), a liver borne plasma protein, contributes to the prevention of soft tissue calcification, modulates inflammation, reduces insulin sensitivity and fosters weight gain following high fat diet or ageing. In polycystic ovary syndrome, fetuin-A levels correlate with free androgen levels, an observation pointing to androgen sensitivity of fetu...

Abstract The need to rear the offspring necessitated evolution of female’s immune system mount stronger responses than males. One consequence it is that major autoimmune diseases manifest in a sex biased manner with predominance females. However, mechanisms underlying bias have not been clearly defined. We investigated molecular by which male hormones (androgens) regulate αβ T cell function aut...

tuberculosis is one of the most common infectious diseases in the world. in recent years, genetically approach has been developed. one of the interesting gene for investigator is ifn-γr1. in this study we determind susceptibility to tuberculosis with polymorphism of ifn-γr1 gene. fifthly patients with smear positive tuberculosis have been chosen randomly. they were matched with 54 healthy contr...

expression of receptor tyrosine kinase ror1 in a wide variety of cancers has emerged as a new era focusing on targeting this receptor in cancer therapy. our preliminary re-sults indicate the presence of a truncated transcript of ror1 in tumor cells. the trun-cated ror1 encompasses extracellular and transmembrane domains, lacking catalytic kinase domain (ror1-ecd). as enzyme activity is highly d...

G-protein-coupled receptor (GPCR)-stimulated androgen-independent activation of androgen receptor (AR) contributes to acquisition of a hormone-refractory phenotype by prostate cancer. We previously reported that regulator of G-protein signaling (RGS) 2, an inhibitor of GPCRs, inhibits androgen-independent AR activation (Cao et al., Oncogene 2006;25:3719-34). Here, we show reduced RGS2 protein e...

The complete form of androgen insensitivity syndrome (testicular feminization) occurs in a 46,XY karyotype with a mutant X-linked recessive gene that is responsible for the androgen intracellular receptor [l]. An individual with androgen insensitivity syndrome is a male pseudohermaphrodite. Phenotypic characterizations include scanty or absent axillary and pubic hair, slight vulvar hair, a rudi...