... with NGS technology and describe the challenges to interpret contribution of these genes to DSD phenotypic variability and pathogenicity. Key Messages: Variants in common DSD genes like androgen receptor ( AR ), mitogen-activated protein kinase kinase kinase 1 ( MAP3K1 ), Hydroxy-Delta-5-Steroid...

... such effects will be physiologically relevant is still not known. Nevertheless, in the worst-case scenario, there are no threshold levels below which there are no effects at all, and one target molecule is the androgen receptor. This mini review focuses on the androgen receptor gene, its link with classical...

... focus on DAX-1, androgen receptor and cytochrome P450cl7, and discuss their functions in sex differentiation. We analyzed the DAX-1 genes of two unrelated Japanese patients with congenital adrenal hypoplasia and hypogonadotropic hypogonadism using PCR amplification of genomic DNA and complete exonic...

...Serge Lumbroso; Jean-Marc Lobaccaro; Christophe Vial; Geneviève Sassolas; Brigitte Ollagnon; Charles Belon; Jean Pouget; Charles Sultan We have performed a molecular analysis of the androgen receptor gene in two families with suspected Kennedy’s disease (spinal and bulbar muscular atrophy, SBMA...

...W. Jacobson; J. Routledge; H. Davies; T. Saich; I. Hughes; A. Brinkmann; B. Brown; P. Clarkson Human genital skin fibroblasts show the androgen receptor (AR) as bright red granules (0.5 μm in diameter) after treatment with one (of 3) primary polyclonal antibody and a secondary antibody linked...

..., the androgen receptor, which is a member of the nuclear receptor superfamily. The androgen receptor gene has been cloned and is located on the X chromosome at Xq11-12. Mutations of this gene have been found in subjects with both complete and partial androgen insensitivity. In a study of 27 subjects...

...M. Kaufman; L. Pinsky; B. Gottlieb; M. Schweitzer; A. Brezezinski; C. von Westarp; J. Ginsberg We have characterized intracellularly the androgen-receptor (A-R) complexes formed by genital skin fibroblasts from 2 unrelated males with qualitative defects of the androgen receptor: one has a small...

...Hans-Udo Schweikert; Lothar Weissbach; Christine Stangenberg; Gerhard Leyendecker; Hans-Kuno Kley; James E. Griffin; Jean D. Wilson The androgen receptor in fibroblasts cultured from a biopsy of scrotal skin from 1 subject with Reifenstein syndrome has been found to be normal in amount and to bind...

...I.A. Hughes; B.A.J. Evans Androgen receptor binding was studied in genital skin fibroblasts from 49 patients with androgen insensitivity syndrome (AIS) classified as complete (CAIS) or partial (PAIS) based on the clinical phenotype. The majority (64%) of CAIS and a minority (7%) of PAIS patients...

... be obtained in the clinic from systematic assays of urinary and plasma hormones, enzyme activities and target tissue receptor concentrations. The present paper describes the results of our assays of plasma 3α-androstanediol glucuronide, 5α-reductase and androgen receptor in prostate cancer patients...

.... By contrast, their mechanisms of intracellular action remain poorly understood. We used tritiated methyltrienolone (R1881), a synthetic androgen that binds strongly to the androgen receptor, to characterize the binding activity in nuclear extracts of erythroblasts from human bone marrow cultures. The nuclear...

..., instructions or products referred to in the content or advertisements. LHRH agonist Antiandrogen Medical castration Androgen receptor Prostate Cancer Hormone Res. 18: 18-27 (1983) ©1983S.Kargcr AG. Basel 0301-0163/83/0183-0018S2.75/0 New Hormonal Therapy in Prostate Cancer: Combined Use of a Pure...

...Paul W.H. Houben; Leslie P. Bullock 6α-Methylprogesterone (6MP) is an androgenic progestin that binds to the androgen receptor. However, results from an in vivo study suggested that 6MP was also bound by a second receptor. In the present study, we found that 6MP was bound in kidney cytosol from...

...Sabine E. Hannema; Cristin G. Print; D. Stephen Charnock-Jones; Nick Coleman; Ieuan A. Hughes Background: Wolffian ducts (WDs) are the embryonic precursors of the male reproductive tract. Their development is induced by testosterone, which interacts with the androgen receptor (AR). The molecular...

...Dimitrios T. Papadimitriou; Agnès Linglart; Yves Morel; Jean-Louis Chaussain Background: Androgen receptor defects affect the regulation of the gonadotropic axis. However, little is known about the timing of pubertal maturation in complete androgen insensitivity syndrome (CAIS). Aims: To evaluate...

...) and mutant androgen receptor (AR) plasmid constructs, corresponding to partial and complete androgen insensitivity syndrome (PAIS/CAIS). Methods: An AR-negative fibroblast strain (ARD842) was established from the gonads of a CAIS patient. Wt-AR or either mutants L712F (PAIS), R774C or V866M (CAIS) were...

...Rui Ma; Saizhu Wu; Qishui Lin Objective: Androgens play an important role in the arterial vascular system, and androgen receptors (AR) have been identified in vascular smooth muscle cells (VSMCs). This study examined the effects of testosterone exposure on AR gene expression in cultured rat aortic...

.... This region does not contain any identified genes or transcripts. However, the breakpoint is approximately 134 kb from the 5′ end of the androgen receptor (AR) gene. Conclusions: Genetic defects of the AR gene are collectively called androgen insensitivity syndrome and include a range of phenotypes from...

... of IGF-II and IGFBP in GF. This may play a role in the failure to develop male external genitals in CAIS patients. Androgen receptor Complete androgen insensitivity syndrome Genital skin fibroblast Insulin-like growth factor-II IGF binding protein 2 The testicular production of androgen...

...Juan Carlos Zenteno; Bertha Chávez; Felipe Vilchis; Susana Kofman-Alfaro Background/Aims: Mutations in the androgen receptor (AR) gene result in an X-linked recessive form of male pseudohermaphroditism known as the androgen-insensitivity syndrome (AIS). The alterations most frequently observed...