*  A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps...
... and Hhal sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. ... Age- and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum Genet 107:343-349.. *CrossRef, ...
  http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.35743/references
*  CTCF deletion syndrome: clinical features and epigenetic delineation | Journal of Medical Genetics
... and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. ... Androgen receptor gene DNA methylation. We used androgen receptor gene DNA methylation to analyse the XCI.11 Genomic DNA ... an X-linked gene that marks the active X chromosome; and UTX, an X-linked gene that escapes X inactivation and is therefore ... we used an androgen receptor X inactivation assay (figure 2A). Both patients demonstrated random X inactivation with the ratio ...
  http://jmg.bmj.com/content/54/12/836
*  Autism and other Neuropsychiatric Symptoms are Prevalent in Individuals with MECP2 Duplication Syndrome
... and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. ... Results of X-chromosome inactivation studies. Leukocyte DNA from nine carrier females was tested for X-chromosome inactivation ... Size and gene content of each duplication were determined by array-CGH. X-chromosome inactivation patterns were analyzed using ... X-chromosome inactivation studies. X-inactivation studies were performed based on the protocol described by Allen et al. with ...
  http://pubmedcentralcanada.ca/pmcc/articles/PMC2801873/?lang=en-ca
*  HUMARA assay - Wikipedia
... and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation". ... short for Human Androgen receptor) that is located on X chromosome. Considering the fact that once one X chromosome is ... 1-) The gene is located on X chromosome and it goes through inactivation by methylation in normal embryogenesis of a female ... 2-) Human Androgen Receptor gene alleles have varying numbers of CAG repeats. Thus, when DNA from a healthy female tissue is ...
  https://en.wikipedia.org/wiki/HUMARA_assay
*  Scientific Protocols - Clonality - X Chromosome Inactivation Assay
... and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. ... Forward and reverse primers, each 20 µM (Human Androgen Receptor Gene (HUMARA) CAG trinucleotide repeat microsatellite primers ... Investigators can utilize X chromosome inactivation (methylation) to determine the clonality status of a tumor or premalignant ... The technique is based on a methylation-sensitive restriction enzyme and analysis of a polymorphic locus on the X chromosome. ...
  https://protocols.scienceexchange.com/protocols/clonality-x-chromosome-inactivation-assay
*  AIDS-related Kaposi's sarcoma is a clonal neoplasm. - PubMed - NCBI
... based on a methyl-sensitive restriction digest followed by PCR amplification of the highly polymorphic androgen receptor gene. ... We used an X chromosome inactivation assay to determine the clonality of Kaposi's sarcoma nodules from patients with AIDS- ... Two of three evaluable cases had a monoclonal pattern of inactivation, and the third case had a clonal expansion of cells with ...
  https://www.ncbi.nlm.nih.gov/pubmed/9815980
*  Associations between Androgen and Vitamin D Receptor Microsatellites and Postmenopausal Breast Cancer | Cancer Epidemiology,...
Because AR is located on the X chromosome, men only have one copy of the AR gene. Women, on the other hand, have two copies of ... Unmeasured X inactivation status may be one explanation for the divergent results about the influence of AR CAGn on diseases ... Polymorphisms of the androgen receptor gene and the estrogen receptor β gene are associated with androgen levels in women. J ... We investigated the association between polymorphism in the androgen receptor (AR) and vitamin D receptor (VDR) genes and ...
  http://cebp.aacrjournals.org/content/16/9/1775
*  Plus it
II and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation ... Detection of X-chromosome inactivation. X-chromosome inactivation analysis was done on the urothelial carcinomas from the 11 ... and on chromosome 17p13 (TP53), the p53 tumor suppressor gene locus, were done. X-chromosome inactivation analysis was done on ... Nonrandom methylation of X chromosomes may occur in women by the hypermethylation of exon 1 of the AR gene on the X chromosome ...
  http://clincancerres.aacrjournals.org/content/11/18/6512
*  Papillary thyroid carcinomas (PTCs) occasionally form multiple tumor foci in various | immune-source.com
To date, there have been five reports that used Human androgen receptor gene-based assay (HUMARA, Table?Table1)1) to the clonal ... demonstrated a concordant inactivation design Dovitinib Dilactic acid from the X-chromosome. AS-PCR indicated that mutational ... reported on Rabbit Polyclonal to CEBPD/E a discordant X-chromosome inactivation pattern between individual tumor foci in half ... In the current study, we examined X-chromosome inactivation patterns and mutations of multiple PTCs using HUMARA and AS-PCR, ...
  http://www.immune-source.com/2017/08/papillary-thyroid-carcinomas-ptcs-occasionally-form-multiple-tumor-foci-in-various/
*  X chromosome studies and breast and ovarian carcinoma - UBC Library Open Collections
... employed to assess X-chromosome inactivation that makes use of a hormone receptor polymorphism in the androgen receptor gene. ... 1992). 1.4.2 Genes that escape X chromosome inactivation Despite XCI, approximately 15% of X chromosome genes are expressed ... 33 1.6.1 Androgen receptor The androgen receptor (AR) is a ligand-dependent nuclear receptor in the activated Class I steroid ... LSI Androgen Receptor Spectrum Orange, a directly labeled DNA probe to the androgen receptor (AR) gene, was used (Abbott ...
  https://open.library.ubc.ca/cIRcle/collections/ubctheses/24/items/1.0066174
*  Skewed X-inactivation - Wikipedia
... and Hhal Sites Near the Polymorphic CAG Repeat in the Human Androgen-Receptor Gene Correlates with X Chromosome Inactivation." ... this particular gene will be expressed from both chromosomes. It is estimated 25% of the genes escape inactivation. Genes used ... The Xist gene is responsible for inactivating the X chromosome from which it is transcribed. X chromosome inactivation in ... Skewed X chromosome inactivation occurs when the inactivation of one X chromosome is favored over the other, leading to an ...
  https://en.wikipedia.org/wiki/Skewed_X-inactivation
*  http://ufdc.ufl.edu/IR00001148/00001
Gene expression profiling services at ICBR 117. Prenatal inactivation of androgen receptor activity feminizes external ... The gene that encodes alpha 1 antitrypsin is SerpinA1 located in the long arm of chromosome 14, nested in a cluster of related ... Gene for gene interaction between the Pinus taeda resistance gene Fr1, and the corresponding pathogen avirulence gene Avr1 has ... 117 Prenatal inactivation of androgen receptor activity feminizes external genitalia but masculinizes brain development Zheng Z ...
  http://ufdc.ufl.edu/IR00001148/00001
*  Protocols and Video Articles Authored by Luis Lassaletta
Microarray Analysis of Gene Expression in Vestibular Schwannomas Reveals SPP1/MET Signaling Pathway and Androgen Receptor ... of chromosome 22q. The microarray analysis demonstrated that 1,516 genes were deregulated and 48 of the genes were validated by ... The inactivation of unidentified genes located in these regions appears associated with tumor progression in meningiomas, but ... androgen receptor (AR) downregulation may denote a hormonal effect or cause in this tumor. Furthermore, the osteopontin gene ( ...
  https://www.jove.com/author/Luis_Lassaletta
*  No Association of Androgen Receptor GGN Repeat Length Polymorphism With Infertility in Indian Men - Rajender - 2013 - Journal...
The androgen receptor CAG repeat polymorphism and X-chromosome inactivation in Australian Caucasian women with infertility ... Androgen receptor gene CAG and GGC repeat lengths in idiopathic male infertility. Mol Hum Reprod. 2004;10: 417-421. *CrossRef, ... Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991;352: 77-79. *CrossRef, ... Cloning of human androgen receptor complementary DNA and localization to the X chromosome. Science. 1988b;240: 327-330. * ...
  http://onlinelibrary.wiley.com/doi/10.2164/jandrol.106.000166/references
*  ZIP9 - Wikipedia
... deletes the SLC39A9 gene along with 18 other genes found close to the SLC39A9 gene on chromosome 14 Although specific gene ... Pascal LE, Wang Z (November 2014). "Unzipping androgen action through ZIP9: a novel membrane androgen receptor". Endocrinology ... "Biallelic inactivation of TRAF3 in a subset of B-cell lymphomas with interstitial del (14)(q24. 1 q32. 33)". Missing or empty , ... This protein is the 9th member out of 14 ZIP family proteins, which is a membrane androgen receptor (mAR) coupled to G proteins ...
  https://en.wikipedia.org/wiki/ZIP9
*  Books - Lane Medical Library - Stanford University School of Medicine
Introduction to gene therapy -- Molecular regulation of reproductive hormones -- GnRH-GnRH-receptor system in the mammalian ... meiotic sex chromosome inactivation, and spermatic head shaping. ... Androgens: molecular basis and related disorders -- Leptin as a ... Prenatal gene therapy / Khalil Abi-Nader and Anna David -- Ethical aspects of stem cell therapy and gene therapy / Søren Holm ... Revealing looping organization of mammalian photoreceptor genes using chromosome conformation capture (3C) assays / Guang-Hua ...
  http://lane.stanford.edu/biomed-resources/eb.html?a=r&page=3&proxy-links=false
*  Testis-determining factor - Wikipedia
Individuals with AIS are unable to respond to androgens properly due to a defect in their androgen receptor gene, and affected ... the SRY gene stays on the Y chromosome. If it is transferred to the X chromosome, however, the resulting Y chromosome will not ... Mutation of the Zinc fingers or inactivation of WT1 results in reduced male gonad size. Deletion of the gene resulted in ... SRY has been shown to interact with the androgen receptor and individuals with XY karyotype and a functional SRY gene can have ...
  https://en.wikipedia.org/wiki/Testis-determining_factor
*  KAKEN - Research Projects | Crosstalk between chromosome modification and transcription factors in the differentiation of...
... regulates progression of prostate cancer to androgen-independent growth through modulation of androgen receptor signaling2012. ... Presentation] MLL fusion genes transform hematopoietic stem cells through an aberrant self-renewal program by Plzf.2012. *. ... Journal Article] Survival and death signals can predict tumor response to therapy after oncogene inactivation2012. *. Author(s) ... Journal Article] Identification of RHOXF2 (PEPP2) as a cancer-promoting gene by expression cloning2012. *. Author(s). Shibata- ...
  https://kaken.nii.ac.jp/grant/KAKENHI-PLANNED-22118002/
*  Free Download Prostate Cancer by University of Wisconsin PowerPoint Presentation Slides
The CAG and GGC microsatellites of the androgen receptor gene are in linkage disequilibrium in men with prostate cancer. Cancer ... Chromosome 16q loss PTEN mutation (10q23) p53 inactivation (17p) ... a Novel Protein that Associates with the Androgen Receptor. J ... Predisposing Gene for Early-Onset Prostate Cancer, Localized on Chromosome 1q42.2-43. Am J. Hum Genet 62:1416-1424, 1998. ... Possible Germline Mutations Hereditary Prostate Cancer 1 gene (HPC1) on chromosome 1q24-q25 Predisposing locus for early-onset ...
  http://www.slidesfinder.com/presentation/prostate-cancer-by-university-of-wisconsin-ppt-slides/1260.aspx
*  X-inactivation - Wikipedia
... status of the polymorphic human androgen receptor (HUMARA) located on X-chromosome is considered the most accurate method to ... Prior to inactivation, both X chromosomes weakly express Xist RNA from the Xist gene. During the inactivation process, the ... A fraction of the genes along the X chromosome escape inactivation on the Xi. The Xist gene is expressed at high levels on the ... As nearly all female mammals have two X chromosomes, X-inactivation prevents them from having twice as many X chromosome gene ...
  https://en.wikipedia.org/wiki/X-inactivation
*  Sex & vision I: Spatio-temporal resolution
It seems parsimonious to assume that the plethora of androgen receptors and androgen effects in primary visual cortex exert a ... X-chromosome inactivation. Curr Biol. 1999;9(7):R235-7. doi: 10.1016/S0960-9822(99)80151-1. [PubMed] [Cross Ref] ... Moreover, the X-chromosome may have a loading of "male-benefit" genes: thus, any recessive alleles must, of necessity, be ... large numbers of androgen receptors are found on neurons throughout the cerebral cortex, including visual cortex. This androgen ...
  http://pubmedcentralcanada.ca/pmcc/articles/PMC3447704/
*  Klinefelter Syndrome
The AR gene is located on the X chromosome and plays a role in the sensitivity of the androgen receptor to androgen. A ... which is called skewed inactivation. In variant Klinefelter syndrome with more than two X chromosomes, all but one X chromosome ... However, a small portion of the X chromosome remains active. Those genes that are expressed in duplicate are thought to cause ... of a female karyotype resulting from the translocation of part of the Y chromosome containing the SRY gene to an X chromosome. ...
  https://www.clinicalpainadvisor.com/pediatrics/klinefelter-syndrome/article/621304/
*  Faculty of Medicine - Faculty of Medicine, Memorial University of Newfoundland
AIS is primarily linked to mutations in the androgen receptor (AR) gene, the steroid-binding nuclear transcription factor that ... Chromosome interval map for the Gct1 tumour susceptibility locus showing the peak DNA marker D4Mit232 with a highly significant ... that the process of Chr X inactivation (a gene dosage compensation mechanism in mammalian females) is skewed in the daughters ... Androgen Insensitivity Syndrome:. Androgen insensitivity syndrome is clinically defined as the under-masculinization of ...
  http://www.med.mun.ca/Medicine/Faculty/Dorward,-Ann.aspx
*  Plus it
It has been suggested that activation of Ras through the MAPK pathways can modulate androgen-dependent gene expression; on the ... Activation of membrane androgen receptors potentiates the antiproliferative effects of paclitaxel on human prostate cancer ... several studies imply that JNK inactivation might also have a role in growth and proliferation control (31). Similar to JNK, ... phosphatase and tensin homologue deleted on chromosome 10; SHBG, sex hormone-binding globulin; TPA, 12-O-tetradecanoylphorbol- ...
  http://mct.aacrjournals.org/content/6/3/811
*  Bigfoot: Hair, hypertrichosis in Sasquatches & hair history, hair analysis....2009
X-inactivation occurs so that the female, with two X chromosomes, does not have twice as many X chromosome gene products as the ... receptors. Androgens are better known as anabolic steroids in sport medicine. Androgens, which were first discovered in 1936, ... Lyonization also called X-inactivation is a process by which one of the two copies of the X chromosome present in female ... in a limited gene pool such as the pockets of Sasquatches in northern California (for example) -the gene pool is so ...
  http://www.bigfootencounters.com/biology/hair.htm