Androgen receptor gene
A mutation in the DNA binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor positive androgen resistance
... of androgen resistance express normal quantities of apparently normal androgen receptor in cultured genital skin fibroblasts (receptor-positive androgen ...the androgen ...
5
A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor negative androgen resistance
... the androgen receptor that impair the action of 5 alpha-dihydrotestosterone and testosterone result in abnormal male sexual ...the androgen receptor gene has permitted us to examine its ...
8
Mutations in the ligand binding domain of the androgen receptor gene cluster in two regions of the gene
... We have analyzed the nucleotide sequence of the androgen receptor from 22 unrelated subjects with substitution mutations of the hormone-binding domain. Eleven had the phenotype of complete testicular ...
6
Related individuals with different androgen receptor gene deletions
... affected (XY) aunt has a normal exon E, but a deletion of exons F and G of the same gene. The mother and maternal grandmother of the children both carry the exon E deletion, but not the exon F, G deletion. Both ...
7
Original Article Identification of novel single nucleotide polymorphisms in androgen receptor gene in two families with complete androgen insensitivity syndrome
... family members of the boy participated in the genetic analysis for AR gene variants. A SNP (c.946T>V, p.Y316H) was identified in the boy and 3 other members of his family (Table 3). His mother and grandmother ...
6
Severe forms of partial androgen insensitivity syndrome due to p L830F novel mutation in androgen receptor gene in a Brazilian family
... the androgen receptor that allosterically regulates coactivator ...human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH- terminal domain interaction ...
6
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
... The receptor shares sequence similarity with other steroid receptors within its three primary functional re- gions: the amino-terminal, DNA binding, and steroid binding ...for receptor stabilization and ...
10
Androgen receptor gene amplification in bone metastases from hormone-refractory prostate cancer
... in androgen-dependent epithelium and is usually androgen ...via androgen receptor-mediated mechanisms on a background of endogenous genotoxic carcinogens and possibly weak environmental ...
297
Monoclonal endothelial cell proliferation is present in primary but not secondary pulmonary hypertension
... human androgen receptor gene by PCR (HU- MARA) in proliferated endothelial cells in plexiform lesions from female PPH patients ( n 5 4) compared with secondary pulmonary hypertension (PH) patients ( ...
9
CAG repeat polymorphisms in the androgen receptor and breast cancer risk in women: a meta-analysis of 17 studies
... the androgen receptor gene in women and breast cancer susceptibility has been studied ...whether androgen receptor CAG repeat lengths were related to breast cancer ...
10
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
... the androgen receptor gene with receptor phenotypes and with clinical phenotypes of androgen ...Their androgen receptor mutation changed arginine-839 to ...normal ...
10
Syndromes d’insensibilite aux androgenes: Aspects moleculaires
... A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminiz- tion in a patient with receptor-positive androgen resistance.. Molecular bas[r] ...
6
Food components and contaminants as (anti)androgenic molecules
... of androgen-target genes [77 – ...of androgen-dependent tissues (ventral prostate, seminal ves- icles, and levator ani plus bulbocavernosus muscles) in a dose-dependent manner in the Hershberger assay using ...
16
Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy
... region of the human androgen receptor (AR) gene located in Xq11-q12. This AR region corresponded to nucleotides 451-661 of the HUMANDREC sequence [49] (GenBank M20132), containing restriction sites ...
13
Kinase mediated regulation of common transcription factors accounts for the bone protective effects of sex steroids
... fer greatly from raloxifene, a prototypic SERM, which also dissociates estrogenic effects on bone versus repro- ductive organs such as the uterus. Importantly, we determined here that the lack of uterotropic effects of ...
15
LSD1 inhibition attenuates androgen receptor V7 splice variant activation in castration resistant prostate cancer models
... Fig. 3 LSD1 chemical inhibition depletes AR response element activation through the AR-V7 splice variant. Luciferase reporter assay of AR response element (ARE) promotor activation in HEK293 cells co-transfected, 24 h ...
9
Evaluation of denaturing gradient gel electrophoresis (DGGE) as a method of mutation detection
... The PCR, introduced by Kary M ullis et al. in 1987 has revolutionised the whole field of molecular biology. It allows the enzym atic am plification of target sequences from small amount of genom ic DNA. In the context of ...
207
Ubiquitin-specific protease 12 interacting partners Uaf-1 and WDR20 are potential therapeutic targets in prostate cancer
... affect AR activity. Firstly, luciferase reporter assays were conducted following Uaf-1 and WDR20 silencing in the LNCaP variant cell line LNCaP-7B7. These cells have a stably integrated luciferase gene located ...
13
Androgen Receptor as a Driver of Therapeutic Resistance in Advanced Prostate Cancer
... the androgen receptor (AR) signaling axis in the progression of prostate cancer is a cornerstone to our understanding of the molecular mechanisms causing castration-resistant prostate cancer ...ago, ...
8
Recent advances on the progressive mechanism and therapy in castration-resistant prostate cancer
... vital gene of CRPC and the application of targeting drugs for CRPC might play an important part in future, while targeting the individual gene expression will bring big rewards for the therapeutic effect ...
12