Sex-specific association of X-linked Toll-like receptor 7 (TLR7) with male systemic lupus erythematosus | PNAS
2008) Androgen receptor gene CAG repeat polymorphism and X-chromosome inactivation in children with premature adrenarche. J ... and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. ... Variation in the androgen receptor gene exon 1 CAG repeat correlates with manifestations of autoimmunity in women with lupus ... Although translocated X chromosome segment in Yaa may contain as many as 16 genes, the major gene for causation of the ...http://www.pnas.org/content/107/36/15838
Techniques to Determine Clonality in Hematolymphoid Malignancies | SpringerLink
... and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. ... Cell Clonality Antigen Receptor Androgen Receptor Gene FLT3 Mutation Clonal Nature These keywords were added by machine and not ... Sleddens HFBM, Oostra BA, Brinkmann AO, Trapman J. Trinucleotide repeat polymorphism in the androgen receptor gene (AR). ... Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet. 1962;14:135-148.PubMedGoogle Scholar ...https://link.springer.com/chapter/10.1007/978-1-4419-5698-9_8
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
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS...
... and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation ... A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with ... NEMO gene mutations in Chinese patients with incontinentia pigmenti. Hsiao, PF; Lin, SP; Chiang, SS; Wu, YH; Chen, HC; Lin, YC ... tial modulator (NEMO)orNF-κB inhibitor, alpha (IKBA) Results The TNF-α production from lipopolysaccharide genes. A heterozygous ...https://www.deepdyve.com/lp/springer_journal/immunodeficiency-in-two-female-patients-with-incontinentia-pigmenti-xEbmEQsPTg
Protocols and Video Articles Authored by Richard D. Schulick (Translated to Danish)
... using X-chromosome inactivation analysis of the human androgen receptor (AR) gene. Five of 7 cases were informative and ... Oct, 2003 , Pubmed ID: 14527906 Aberrant methylation of tumor-suppressor genes is associated with a loss of gene function that ... mutations in the MEN1 and DAXX/ATRX genes were associated with better prognosis. We also found mutations in genes in the mTOR ( ... and identified new mutated genes in each pathway. We also identified frequent and diverse somatic aberrations in genes ...https://www.jove.com/author/Richard+D._Schulick?language=Danish
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
Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease | Molecular...
These deletions appeared in the same X chromosome of the same patient. The patient is a six-year-old boy who presented ... Array-CGH allowed us to determine candidate genes in the deleted region. The disruption and partial loss of CLCN5 confirmed the ... Here we report the clinical and molecular characterization of two Xp11.22 deletions including SHROOM4 and CLCN5 genes. ... and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. ...https://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-015-0107-x
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
High-Resolution Images of Retinal Structure in Patients with Choroideremia | IOVS | ARVO Journals
... n triplet repeat region in the androgen receptor gene on the X chromosome. Methylation sensitive enzymes cut the androgen ... receptor repeat region on the active X chromosome, but leave this site intact on the inactive X chromosome. The X-inactivation ... Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature . 1961; 190: 372-373. [CrossRef] [PubMed] ... Sharp A Robinson D Jacobs P. Age- and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum Genet ...https://iovs.arvojournals.org/article.aspx?articleid=2128921
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
Genetics 2038 test 1 ch 1-4 Flashcards by Kallie Graham | Brainscape
inactive X gene is not expressed and only the hair color linked to the active X chromosome is expressed. ... defective androgen receptor, NOT defect in SRY gene 81 Sex-linked traits ... Chromosomes condense, homologous chromosomes synapse, crossing over takes place, the nuclear envelope breaks down, and the ... "chromosome" is circular DNA (no histones); replication is simple division, with a high rate of production of new copies of DNA ...https://www.brainscape.com/flashcards/genetics-2038-test-1-ch-1-4-6610573/packs/10485186
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
X-inactivation - Wikipedia
... status of the polymorphic human androgen receptor (HUMARA) located on X-chromosome is considered the most accurate method to ... Expressed genes on the inactive X chromosome. A fraction of the genes along the X chromosome escape inactivation on the ... 2.Maternal X chromosome 3.Paternal X chromosome 4.Mitosis and random X chromosome inactivation event 5.Paternal chromosome is ... Prior to inactivation, both X chromosomes weakly express Xist RNA from the Xist gene. During the inactivation process, the ...https://en.wikipedia.org/wiki/X-chromosome_inactivation
Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome | Genome Biology |...
We demonstrate that allelic imbalance can be used to determine an inactivation status for X-linked genes, even without ... The majority of genes are subject to XCI and genes that escape from XCI show a continuum of expression from the inactive X. ... In addition to revealing mechanisms involved in cis-gene regulation, determining which genes escape XCI can expand our ... results in the silencing of most genes on one X chromosome, yielding mono-allelic expression in individual cells. However, ...https://genomebiology.biomedcentral.com/articles/10.1186/gb-2013-14-11-r122
BRCA1 | Cancer Genetics Web
What does this gene/protein do?. Show (74). BRCA1 is implicated in:. - androgen receptor binding - androgen receptor signaling ... dosage compensation by inactivation of X chromosome - double-strand break repair - double-strand break repair via homologous ... chromosome - chromosome segregation - condensed nuclear chromosome - damaged DNA binding - DNA binding - DNA damage response, ... The PALB2 gene, has been accepted as a moderate-penetrance gene associated with breast cancer susceptibility and this gene ...http://www.cancerindex.org/geneweb/BRCA1.htm
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
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
Emergence of Androgen Independence at Early Stages of Prostate Cancer Progression in Nkx3.1; Pten Mice | Cancer Research
... loss-of-function of Pten leads to high-grade PIN and/or carcinoma and can synergize with inactivation of other relevant genes, ... These androgen-independent lesions displayed cytoplasmic as well as nuclear localization of androgen receptor, consistent with ... NKX3.1 maps within a critical region of human chromosome 8p21 that undergoes deletion in prostate cancer ( 8, 9). Furthermore, ... Androgen receptor: a key molecule in the progression of prostate cancer to hormone independence. J Cell Biochem 2004; 91: 483- ...http://cancerres.aacrjournals.org/content/66/16/7929
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