Females genes androgen receptor x chromosome inactivation. Medical search. Frequent questions

The method is based on X chromosome inactivation and it takes the advantage of having different methylation status of a gene called HUMARA (short for human androgen receptor) that is located on X chromosome. (wikipedia.org)
1-) The gene is located on X chromosome and it goes through inactivation by methylation in normal embryogenesis of a female infant. (wikipedia.org)
We analyzed the XCI pattern in blood samples of 194 women with idiopathic ID, using the androgen receptor gene (AR) methylation assay. (bvsalud.org)
To study the clinical overlap between Rett (RTT) and Angelman syndromes (AS), we screened the MECP2 gene in a cohort of 78 patients diagnosed as possible AS but who showed a normal methylation pattern at the UBE3A locus. (bmj.com)
A total of 78 children (40 females and 38 males), referred for clinical features consistent with the diagnosis of Angelman syndrome but displaying a normal methylation pattern at the UBE3A locus, were further screened for MECP2 gene mutations. (bmj.com)
Epigenetic mechanisms like DNA methylation and histone modifications are essential for multiple physiological processes like development, establishment of tissue identity, imprinting, X-chromosome inactivation, chromosomal stability and gene transcription regulation. (pediatricendoreviews.com)
A number of mechanisms play a large role in the initiation of neoplastic transformation of bladder or kidney cancer, including: mutation of suppressor genes, activation of proto-oncogenes, abnormal and over-expression of oncogenes through amplification and deletion of some regions of chromosomes, and methylation. (biomedcentral.com)
A total of 7 possible genetic alterations and epigenetic changes in CAFs are discussed, including gene differential expression, karyotype analysis, gene copy number variation, loss of heterozygosis, allelic imbalance, microsatellite instability, post‑transcriptional control and DNA methylation. (spandidos-publications.com)

Chromosomal abnormalities, HLA phenotypes, and polymorphisms of various genes have been associated with acne. (springer.com)
This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. (cancerindex.org)
Inversion of chromosome #9--one of the heterochromatin variants associated with elevated chromosomal instability , increased congenital abnormalities , and cancer proneness--may have been causally connected with a genetic imbalance resulting in the de novo deletion of 11p11. (lookfordiagnosis.com)
Methylenetetrahydrofolate reductase gene polymorphisms are not associated with embryo chromosomal abnormalities and IVF outcomes. (cdc.gov)

Angelman syndrome (AS) is an epileptic encephalopathy with microcephaly, absent speech, ataxia, and inappropriate laughter mapped to chromosome 15q11 and ascribed to deletion, uniparental disomy, and mutations of either the imprinting centre or the UBE3A gene. (bmj.com)
MECP2 mutations in females included missense (R106W) or nonsense mutations (R255X, R270X) or frameshift deletion (803delG), which involved either the methyl binding domain or the transcription repression domain of the protein (table 2 ). (bmj.com)
1- 3 Contiguous gene syndromes are phenotypically complex disorders associated with the deletion of multiple adjacent genes. (bmj.com)
4, 5 Until recently, the only known contiguous gene syndrome involving the COL4A5 gene was Alport syndrome and diffuse leiomyomatosis (ATS-DL, OMIM 308940), 6- 9 in which the deletion extends towards the centromere to include the first two exons of the adjacent COL4A6 gene. (bmj.com)
A long range deletion map was constructed using available X chromosome YAC contigs and the DNA of the proband of family 1, hybrid 1C3 derived from the mother of family 2, and patients 3 and 4. (bmj.com)
We report statistical evidence that deletion of Xp22.3, an interval containing 31 annotated genes, is sufficient to cause the neurocognitive phenotype described by the TSCS score. (biomedcentral.com)
Constitutional interstitial deletion of 11p11 and pericentric inversion of chromosome 9 in a patient with Wiedemann-Beckwith syndrome and hepatoblastoma . (lookfordiagnosis.com)
A constitutional interstitial deletion on the short arm of chromosome #11 and an inversion of the heterochromatin of chromosome #9 were detected in a 1.5-year-old boy with Wiedemann-Beckwith syndrome (WBS) and hepatoblastoma . (lookfordiagnosis.com)
In hypermobility type of Ehlers-Danlos syndrome , haploinsufficiency (where one copy is unable to produce the protein in sufficient quantity) due to a 30-kb deletion of tenascin-X (TNXB) gene is responsible for the disease. (dorak.info)
In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)

However, YY1 is a known transcriptional repressor that acts in the binding of the XIST long noncoding RNA on the inactive X chromosome, providing a mechanistic link between the pathogenic variant and the detected skewed XCI in the carrier. (bvsalud.org)
Parental origin of the inactive X chromosome was investigated for ten patients for whom maternal DNA was informative, and the inactive X chromosome was of maternal origin in eight patients and of paternal origin in two patients. (bilkent.edu.tr)
Back selection for the inactive X on one diploid clone yielded 12 hybrids containing the deleted inactive X chromosome, three of which were selected for analysis. (bmj.com)

About 195 female scleroderma patients and 160 female controls were analyzed for the androgen receptor locus to assess XCI patterns in the DNA extracted from peripheral blood cells. (bilkent.edu.tr)
We are examining the underlying molecular genetic consequences of two kinds of mutations that cause PMD: mutations that may cause alterations in RNA splicing and gene duplications in and around the PLP1 locus that may alter PLP1 expression. (centerforpediatricresearch.org)
In another project, we are determining the molecular mechanisms that cause the most common type of PMD, gene duplication at the PLP1 locus. (centerforpediatricresearch.org)
Generation of homozygosity at the c-Ha-ras-1 locus on chromosome 11p in an adrenal adenoma from an adult with Wiedemann-Beckwith syndrome. (lookfordiagnosis.com)
The UGT1 family constitutes a complex gene locus on human chromosome 2q37 and comprises 13 first exons that encode the unique N-terminal domains of the UGT1A proteins and exons 2 to 5 that encode the C-terminal domain, which is identical in all UGT1A family members ( Owens and Ritter, 1992 ). (aspetjournals.org)
A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. (lookformedical.com)
A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human chromosome 13 at locus 13q12.3. (lookformedical.com)

Gonadotropin receptor polymorphisms (FSHR N680S and LHCGR N312S) are not predictive of clinical outcome and live birth in assisted reproductive technology. (cdc.gov)
Investigation of the role of X chromosome inactivation and androgen receptor CAG repeat polymorphisms in patients with recurrent pregnancy loss: a prospective case-control study. (cdc.gov)
The report covers research from the authors' laboratories on the structure and regulation of UDP-glucuronosyltransferase (UGT) genes, glucuronidation of xenobiotics and endobiotics, the toxicological relevance of UGTs, the role of UGT polymorphisms in cancer susceptibility, and gene therapy for UGT deficiencies. (aspetjournals.org)
Thus the genetic basis leading to a better or worse prognosis for survival in cancer patients may be dependent on functional polymorphisms in genes such as genes responsible for tumor transformation, xenobiotic metabolism, oxidative stress, detoxification and DNA repair. (biomedcentral.com)

2-) Human Androgen Receptor gene alleles have varying numbers of CAG repeats. (wikipedia.org)
The HUMARA gene contains two alleles located on the X chromosome. (globale-dermatologie.com)
Indeed, in a clone of cells, only one of the alleles is expressed, because the same X chromosome is inactivated by lyonisation{Allen, 1992}, in a clone, whereas in normal {Nakamura, 2001} skin (polyclonal), the inactivated HUMARA gene allele isn't always on the same X chromosome. (globale-dermatologie.com)
This gene is located on the X chromosome and one of the alleles is thus inactivated. (globale-dermatologie.com)
nevertheless X-inactivation may complicate the interpretation from the mutation results particularly when among the two alleles in the X chromosome is certainly partly inactivated [24]. (bioinf.org)

It is noteworthy that the HOXB13 gene is located on chromosome 17q, the loss of heterozygosity of which has been noted in cancer of the kidney, breast, ovary, colon and some haematological malignancies. (biomedcentral.com)
Genetic alterations include genetic mutation, gene copy number variation (CNV), loss of heterozygosity (LOH), allelic imbalance (AI) and microsatellite instability (MSI). (spandidos-publications.com)

LKB1 is a serine/threonine kinase mutated in Peutz-Jeghers syndrome (PJS), implicated in many cellular processes including energy metabolism, cell polarization and cell cycle arrest and has also been shown to play an essential role as a tumor suppressor gene by negatively regulating the mTOR pathway. (scirp.org)
A mutation in the TP53 gene overexpresses the p53 protein and increases the risk of tumor progression [ 7 ]. (biomedcentral.com)
Altered expression of HOX genes may be important for oncogenesis and tumor suppression by influencing various pathways that promote tumorigenesis and metastasis. (biomedcentral.com)

Although several previous studies have suggested that chromoanagenesis is often a genetic disease source in postnatal diagnostic screening, due to either the challenge of clinical interpretation of these complex rearrangements or the limitation of microarray resolution relative to the small size and complexity of chromogenic induced chromosome abnormalities, bringing further attention and to study its occurrence in the clinical setting is extremely important. (bvsalud.org)
This categorization of NAA10 -related syndrome also includes Lenz microphthalmia syndrome (MIM#309800), a disorder also caused by pathogenic variants in the NAA10 gene which is characterized by abnormalities of the skeletal and urinary systems, teeth, ears, digits, and several ocular defects that may include unilateral or bilateral microphthalmia/anophthalmia, cataracts, nystagmus, coloboma, and glaucoma [ 3 ]. (hindawi.com)
1981), with mental retardation and alpha-thalassemia without molecular abnormalities of the alpha-globin gene complex on chromosome 16p. (findzebra.com)

MECP2 missense (R106W, G428S), nonsense (R255X, R270X), and frameshift mutations (803 delG) were identified in 6/78 patients including 4/6 female cases consistent with RTT, one female case with progressive encephalopathy of neonatal onset, and one isolated male case with non-fatal, non-progressive encephalopathy of neonatal onset. (bmj.com)
This study shows that MECP2 mutations can account for a broad spectrum of clinical presentations and raises the difficult issue of the screening of the MECP2 gene in severe encephalopathy in both males and females. (bmj.com)
1 Recently, RTT has been ascribed to mutations of the MECP2 gene, which encodes a protein involved in transcription repression and gene silencing, via a methyl-CpG binding domain (MBD) and a transcription repression domain (TRD). (bmj.com)
2 3 Screening RTT patients for MECP2 mutations has shown random X inactivation in over 90% of RTT females, 4 the paternal origin of de novo MECP2 mutations, 5 and the maternal inheritance of mutations in familial forms, with a skewed X inactivation pattern in circulating white blood cells of healthy female carriers. (bmj.com)
X linked Alport syndrome (ATS, OMIM 301050) is a hereditary glomerulonephritis resulting from either point mutations or intragenic deletions of the COL4A5 gene encoding the α5 chain of type IV collagen. (bmj.com)
By controlling gene activity and therefore the availability of the final gene product in the cell, epigenetic alterations can have similar effects as classical genetic mutations. (pediatricendoreviews.com)
BRCA2 has also been implicated in prostate cancer etiology, but it is unclear the impact that mutations in this gene have on prostate tumourigenesis. (prolekarniky.cz)
Germline mutations in BRCA2 predispose to both breast and ovarian cancer making it a good candidate gene for prostate cancer etiology. (prolekarniky.cz)
Further investigations are necessary to identify these mutations and understand how these AKR1C genes affect these important reproductive traits. (biomedcentral.com)
In cases with mutations in the HOXB13 gene, the family history of cancer was negative. (biomedcentral.com)
Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. (lookformedical.com)
Mutations in this gene predispose humans to breast and ovarian cancer. (lookformedical.com)

Insulin-induced conformational changes in the full-length insulin receptor: structural insights gained from molecular modeling analyses. (cuhk.edu.cn)
Of the 31 genes, the 21 upregulated genes were primarily associated with cell paracrine and intracellular signaling, transcription regulation and cell adhesion and migration, and their transcriptional products included transforming growth factor-β2 (TGF-β2), insulin-like growth factor-binding protein 2 and transcriptional factor AP-2α/γ ( 11 ). (spandidos-publications.com)

Although sex hormones play a key role in sex differences in susceptibility, severity, outcomes, and response to therapy of different diseases, sex chromosomes are also increasingly recognized as an important factor. (biomedcentral.com)
Y chromosome harbors male‑specific genes, which either solely or in cooperation with their X-counterpart, and independent or in conjunction with sex hormones have a considerable impact on basic physiology and disease mechanisms in most or all tissues development. (biomedcentral.com)
Sex hormones and genes on the sex chromosomes are not only key factors in the regulation of sexual differentiation and reproduction but they are also deeply involved in brain homeostasis. (mdpi.com)
Two biological factors are important for understanding sex differences: sex hormones and sex chromosome effects ( McCarthy and Arnold, 2011 ). (jneurosci.org)
Sex differences may be induced by specific genes , by hormones, by anatomy , or by social learning . (en-academic.com)
The early stages of human differentiation appear to be quite similar to the same biological processes in other mammals and the interaction of genes, hormones and body structures is fairly well understood. (en-academic.com)
The various ways that genes, hormones, and upbringing affect different human behaviors and mental traits are difficult to test experimentally and charged with political conflict. (en-academic.com)

Extreme skewing of X-chromosome inactivation (XCI) can be associated with ID phenotypes caused by pathogenic variants in the X chromosome. (bvsalud.org)
These data confirm that extreme XCI skewing in females with ID is highly indicative of causative X-linked pathogenic variants, and point to the possibility of identifying causative variants in autosomal genes with a XCI role. (bvsalud.org)
Mucopolysaccharidosis type II (MPS II) is an X-linked inherited disease caused by pathogenic variants in the IDS gene, leading to deficiency of the lysosomal enzyme iduronate-2-sulfatase and consequent widespread storage of glycosaminoglycans, leading to several clinical consequences, with progressive manifestations which most times includes cognitive decline. (bvsalud.org)
The disorder is caused by pathogenic variants in the NAA10 gene located on chromosome X at position Xq28. (hindawi.com)
Ogden syndrome (MIM #300855) is a rare X-linked neurodevelopmental disorder caused by pathogenic variants of the NAA10 gene located at Xq28 [ 1 ]. (hindawi.com)
Constitutively active AR-V7, one of the major androgen receptor (AR) splice variants lacking the ligand-binding domain, plays a key role in the development of castration-resistant prostate cancer (CRPC) and anti-androgen resistance. (cancerindex.org)
Therefore, we suggest that in these high- risk groups, C-banding studies should be performed together with high resolution chromosome analysis in order to also reveal the incidence and significance of C-band variants in individuals with such cancer prone syndromes. (lookfordiagnosis.com)
The genes encoding enzymes involved in the process of metabolic activation, detoxification and DNA repair are polymorphic and there are some structural variants of genes in the population associated with different activity of the enzyme they encode. (biomedcentral.com)

The two main types of medications are small molecules (that bind to receptors in the body) and biologics (proteins, antibodies, and other substances already found in humans). (genderedinnovations-ochanomizu-univ.jp)
Standard experimental manipulations such as castration, androgen blockage, and transgenic models are obviously unethical in humans. (jneurosci.org)
Humans have forty-six chromosomes, including two sex chromosomes, XX in females and XY in males. (en-academic.com)

Some of these genes have functional Y-linked homologs that are thought to balance their dosage between males and females. (biomedcentral.com)
Their X homologs excessively escape X chromosome inactivation, thus researchers classified them as dose-sensitive and haplolethal genes. (biomedcentral.com)

Genetic analysis included karyotyping, X inactivation studies, fluorescent in situ hybridization, microsatellite marker genotyping, and array comparative genomic hybridization. (biomedcentral.com)
Information is collected on the next exams пїЅ MammaPrint: A genomic take a look at that analyzes the activity of certain genes in early-stage breast cancer. (ehd.org)
These receptors function as ligand-dependent transcription factors [2] - [4] , acting either through the transcriptional regulation of genes (genomic pathway) or through membrane and cytoplasmic signaling cascades (non-genomic pathway). (scirp.org)

By adding adaptable information about the activity of genes, epigenetics enables the activation of specific genes depending on the prevalent environmental conditions and individual requirements of a cell. (pediatricendoreviews.com)
Specific genes induce gonadal differences, which produce hormonal differences, which cause anatomic differences, leading to psychological and behavioral differences, some of which are innate and some induced by the social environment . (en-academic.com)

The pleiotropic harmful effects of EDCs act through hormone-dependent downstream signaling pathways responsible for gonad development either through direct interaction with steroid hormone receptor or via epigenetic regulation. (intechopen.com)
The role of MSY genes in important cellular processes such as transcription regulation, translation, and protein stability in males is vital not only in sex determination but also in sex-dependent organ development [ 3 ]. (biomedcentral.com)
These studies have provided fundamental insights into UGT gene structure and regulation, isozyme substrate selectivity, and interindividual variability. (aspetjournals.org)
Interindividual UGT variability likely plays an important role in drug efficacy and xenobiotic toxicity, as well as in hormonal regulation and certain diseases, which in some cases may be amenable to therapeutic manipulations including gene therapy. (aspetjournals.org)
Structure and Tissue-Specific Regulation of UGT Genes (P.I.M., P.A.G., Y.I., A.J.H. (aspetjournals.org)
HOX and homeobox genes play an important role in the regulation of many processes including cell proliferation, differentiation, angiogenesis, receptor signaling, apoptosis and regulate transcription of target androgen receptor genes [ 16 ]. (biomedcentral.com)

In this report, we summarize the ocular features of the syndrome from a systematic review of the literature and additionally present a young female with the syndrome who initially presented with growth restriction, failure to thrive, and hypotonia. (hindawi.com)
Rett syndrome (RTT) is an X linked condition characterised by the cluster of acquired microcephaly, ataxia, psychomotor regression with loss of purposeful hand skills in females, and lethality in males (MIM 312750). (bmj.com)
Nucleotide variations were identified in 6/78 patients including 4/6 female cases consistent with Rett syndrome, one female case of severe early onset encephalopathy, and one male case (tables 2 and 3 ). (bmj.com)
In 1998, we described a new Xq22.3 contiguous gene syndrome which we named AMME (OMIM 300194) because of the distinctive features observed in affected males: Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E). 10 After the original publication, clinical re-evaluation of the family showed alterations of cardiac rhythm and morphology on echocardiography. (bmj.com)
A number sign (#) is used with this entry because X-linked alpha-thalassemia/mental retardation syndrome is caused by mutation in the ATRX gene (300032) on Xq21. (findzebra.com)
The X-linked mental retardation-hypotonic facies syndrome (309580) is also caused by mutation in the ATRX gene. (findzebra.com)
Turner syndrome (45, X, TS, monosomy X) is the genetic disorder resulting from the absence of all or part of one X chromosome in females. (biomedcentral.com)

Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy caused by genetic defects of the proteolipid protein 1 gene (PLP1) that encodes the major central nervous system myelin protein. (centerforpediatricresearch.org)
Both hormonal and genetic factors may influence the cognitive development of TS females. (biomedcentral.com)
The genetic abnormality in TS is determined by the absence of one copy of genes on the X chromosome. (biomedcentral.com)
Studies demonstrated that the Y chromosome is not a 'genetic wasteland' and can be a useful genetic marker for interpreting various male-specific physiological and pathophysiological characteristics. (biomedcentral.com)
The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive. (lookformedical.com)

In this review, the involvement of Y chromosome genes in male-specific diseases such as prostate cancer and the cases that are more prevalent in men, such as cardiovascular disease, neurological disease, and cancers, has been highlighted. (biomedcentral.com)
In this article, the role of Y chromosome in male-specific diseases (male infertility and prostate cancer (PC), and the ones which primarily affect men such as cardiovascular diseases, inflammatory diseases, and various types of cancers has been reviewed (Fig. 2 ). (biomedcentral.com)
Breast cancer is the most common form of malignancy among women in the United States with 211,240 new cases and 40,410 deaths from the disease anticipated in 2005 ( 1 ). (aacrjournals.org)
Androgens are crucial for normal prostate function, and act as pro-survival and proliferation factors in cancer cells. (prolekarniky.cz)
As such, prostate cancer is sensitive to androgen levels and androgen depletion therapy via chemical or surgical castration is an initial step in treatment, typically resulting in tumour regression. (prolekarniky.cz)
The learning incorporated Twelve,274,948 men and women, of whom Ninety-seven,707 had a blood vessels cancer prognosis. (nutlin-3antagonist.com)
Breast cancer is the most common cancer in women worldwide. (scirp.org)
In 2012, breast cancer was reported to cause the death of more than 522,000 women by the International Agency for Research on Cancer. (scirp.org)
Genes, Chromosomes Cancer 2021:1-10. (cuhk.edu.cn)
In 2017, cancer caused 26% of deaths among men and 23% among women in Poland. (biomedcentral.com)
Genes whose expression leads to the development of bladder and kidney cancer are being searched for. (biomedcentral.com)
To date, no genes with high penetration into bladder cancer or kidney cancer have been identified. (biomedcentral.com)
Fruits, vegetables and endometrial cancer risk in women in the European forces in synthesizing evidence on new methods for the risk of cancer: a multisite case-control study in Prospective Investigation into Cancer and Nutrition cervical cancer prevention. (who.int)

[ 8 , 9 ] Meningiomas associated with neurofibromatosis type 2 (NF2) tend to occur in younger individuals and with equal distribution between males and females. (medscape.com)
No differences between NL3 and their wildtype (WT) littermate controls were detected on measures of juvenile reciprocal social interaction, adult social approach, cognitive abilities, and resistance to change in a spatial habit, findings which were replicated in several cohorts of males and females. (cra-rhone-alpes.org)
In human males, we show that variation in fetal testosterone (FT) predicts later local gray matter volume of specific brain regions in a direction that is congruent with sexual dimorphism observed in a large independent sample of age-matched males and females from the NIH Pediatric MRI Data Repository. (jneurosci.org)
Males and females differ in subtle ways and understanding the mechanisms behind such differences has been a major focus of both scientific inquiry and controversy throughout the decades. (jneurosci.org)
Sexual differentiation is the process of development of the differences between males and females from an undifferentiated zygote (fertilized egg ). (en-academic.com)

The present review summarizes the recent achievements in understanding the gene profiles of CAFs and pays special attention to their possible epigenetic alterations. (spandidos-publications.com)

Hormonal influences are attributable to deficient ovarian production of estrogen, androgen, or both. (biomedcentral.com)
In the first weeks of life, a fetus has no anatomic or hormonal sex , and only a karyotype distinguishes male from female. (en-academic.com)

There are several examples of such syndromes on the X chromosome. (bmj.com)
We now propose renaming this condition ATS-MR, so that consistent terminology is used to describe the known ATS contiguous gene syndromes. (bmj.com)

Understanding the molecular mechanisms underlying Y chromosome-related diseases can have a significant impact on the prevention, diagnosis, and treatment of diseases. (biomedcentral.com)
In essence, there is evidence for a molecular androgen memory at both the transcriptome and the epigenome level. (pediatricendoreviews.com)

Haploinsufficiency of the short stature gene SHOX in PAR1 probably does not cause this TS neurocognitive phenotype. (biomedcentral.com)
Two genes proximal to PAR1 within the 8.3 Mb critical region, STS and NLGN4X , are attractive candidates for this neurocognitive phenotype. (biomedcentral.com)
Whether any PAR1 genes contribute to other aspects of the TS phenotype is unknown. (biomedcentral.com)
About 95% of the Y chromosome is composed of the male-specific region of the Y chromosome (MSY), and the other 5% is two pseudoautosomal regions (PAR1 and PAR2) in two ends of this chromosome (Fig. 1 ). (biomedcentral.com)

CAFs are different from NFs, and their unique phenotypes and functions are partly determined by differences in gene expression. (spandidos-publications.com)

Although one X chromosome undergoes inactivation in normal females during early embryogenesis, about 15% of all X chromosome genes, mostly situated on the short arm (Xp), remain active to some degree on both X chromosomes [ 17 ]. (biomedcentral.com)

Using the IMpRH 7000rad and IMNpRH2 12000rad radiation hybrid panels, these 5 genes mapped between microsatellite markers SWR67 and SW2067 . (biomedcentral.com)

Despite extensive studies on the effect of these genes on the development pathways, some MSY genes have remained as missing proteins with no experimental protein evidence due to highly transient and spatio-temporal restricted expression patterns. (biomedcentral.com)
Estrogens stimulate the proliferation and the differentiation of breast epithelial cells through the activation of downstream mitogenic signaling pathways, namely via the estrogen receptors ERα and ERβ. (scirp.org)

Two fundamental gender differences, skewed X-chromosome inactivation (XCI) and pregnancy-related microchimerism, have been implicated in scleroderma. (bilkent.edu.tr)
Minor developmental differences were detected between NL3 and WT, including slightly different rates of somatic growth, slower righting reflexes at postnatal days 2-6, faster homing reflexes in females, and less vocalizations on postnatal day 8 in males. (cra-rhone-alpes.org)
Furthermore, loss of Y chromosome and/or aberrant expression of Y chromosome genes cause sex differences in disease mechanisms. (biomedcentral.com)
If female cells and animals are not included in the early phases of drug development, sex-specific differences in efficacy and toxicity will not be detected. (genderedinnovations-ochanomizu-univ.jp)
Studies on the mechanisms that regulate UGT genes, in a temporal and tissue-specific manner, should contribute significantly to understanding the basis for these differences. (aspetjournals.org)
Nevertheless, even the sex-dichotomous differences are not absolute in the human population, and there are individuals who are exceptions (e.g., males with a uterus, or females with an XY karyotype ), or who exhibit biological and/or behavioral characteristics of both sexes. (en-academic.com)

Female-typical bodies and male-typical bodies may also respond differently to biologics since the production and function of immune cells and antibodies can be affected by an individual's sex chromosomes and levels of estrogens and androgens. (genderedinnovations-ochanomizu-univ.jp)
Aldo-keto reductases interconvert weak androgens, estrogens, progestins, mineralocorticoids and glucocorticoids to their more potent counterparts by catalyzing the reduction and oxidation of keto- and hydroxysteroids, respectively, thereby regulating a wide range of physiological processes involved in development, homeostasis and reproduction [ 16 ]. (biomedcentral.com)

The vast majority of cases are sporadic, but rare familial forms have allowed the disease gene to be mapped to chromosome Xq28. (bmj.com)

Two other cardinal TS features, ovarian failure and short stature, as well as X chromosome inactivation pattern and subject's age, were unrelated to the TSCS score. (biomedcentral.com)
Ovarian insufficiency is a failure of the ovary to function adequately in a woman younger than 40 years, in its role either as an endocrine organ or as a reproductive organ. (medscape.com)
In women aged 40 years or older, the expected physiologic decline of ovarian function that takes place with aging is termed perimenopause or the menopausal transition. (medscape.com)
Primary ovarian insufficiency (POI) (premature ovarian failure, premature menopause, or early menopause) is a condition characterized by amenorrhea, hypoestrogenism, and elevated serum gonadotropin levels in women younger than 40 years. (medscape.com)
Most women with POI retain intermittent ovarian function for many years, and, unlike women who are menopausal, pregnancies may occur. (medscape.com)
Ovarian ultrasonography can be useful in the workup of patients with primary ovarian insufficiency, as it will identify those women with multifollicular ovaries and suggest the diagnosis of either autoimmune oophoritis or 17-20 desmolase deficiency. (medscape.com)

Castration of Brca2;Trp53 mutant animals led to regression of PIN lesions, but atypical cells persisted that continued to proliferate and express nuclear androgen receptor. (prolekarniky.cz)

Nakamura, 2001}, there is inactivation of one of the two genes of the Human activated receptor of androgens (HUMARA). (globale-dermatologie.com)
With the launch of the human proteome project (HPP), the association of Y chromosome proteins with pathological conditions has been increasingly explored. (biomedcentral.com)
The human Y chromosome is a haploid male-specific chromosome. (biomedcentral.com)
It is also estimated that each human being is a carrier of around five recessive lethal genes and perhaps even more recessive disease genes, which may pose risk for the offspring of related individuals (such as cousin marriages). (dorak.info)
Quantitative trait loci (QTL) for age of puberty, nipple number and ovulation rate have been identified in Meishan crosses on pig chromosome 10q (SSC10) near the telomere, which is homologous to human chromosome 10p15 and contains an aldo-keto reductase (AKR) gene cluster with at least six family members. (biomedcentral.com)
One of the QTL regions is located on the long arm of pig chromosome 10 (SSC10q) near the telomere, which is homologous to human chromosome 10p15 [ 5 , 6 ]. (biomedcentral.com)
In the human, an aldo-keto reductase (AKR) gene family (AKR1C) has been identified near the telomere on chromosome 10p15 that contains at least six aldo-keto reductase family 1, member C genes [ 11 ]. (biomedcentral.com)
Investigation of other cases of human sex reversal ( XX males , XY females ) has led to discovery of other genes crucial to testicular differentiation on autosomes (e.g. (en-academic.com)
in one study, 31 genes in breast CAFs, which were identified using Affymetrix Human Genome U133 Plus 2.0 and an empirical Bayesian model, were different from those in NFs ( 11 ). (spandidos-publications.com)

The quantitative detection of the HUMARA gene was done by polymerase chain reaction on 38 non genital specimens in women. (globale-dermatologie.com)

We previously reported evidence that this phenotype results from haploinsufficiency of one or more genes on distal Xp. (biomedcentral.com)
Detailed mapping suggests that haploinsufficiency of one or more genes in Xp22.3, the distal 8.3 megabases (Mb) of the X chromosome, is responsible for a TS neurocognitive phenotype. (biomedcentral.com)

The presence or absence of androgens acting via the androgen receptor plays a key role therein. (pediatricendoreviews.com)
The role of TRAIL/TRAIL receptors in central nervous system pathology. (mdc-berlin.de)

Al1 13 complex events display underlying formation mechanisms, originating either by a synchronization of the shattering of clustered chromosome regions in which regional asynchrony of DNA replication may be one of the main causes of disruption. (bvsalud.org)

X-degenerate sequences are single copy and broadly expressed genes which were evolved from ancestral autosomes to generate sex chromosomes. (biomedcentral.com)

The prostaglandin-endoperoxide synthase 2 gene (PTGS2), which encodes cyclooxygenase-2, was found to upregulate the expression of TGF-β2 ( 14 ). (spandidos-publications.com)

A gene in the sex-determining region of the short arm of the Y, now referred to as SRY , has been found to direct production of a protein which binds to DNA, inducing differentiation of cells derived from the genital ridges into testes. (en-academic.com)

Most single gene disorders can be investigated by prenatal diagnosis using DNA extracted from cells obtained from amniocentesis at 16-18 weeks' gestation or chorionic villus sampling (CVS) at about 10-12 weeks' gestation. (dorak.info)
In single gene disorders (as opposed to multifactorial-complex disorders), the mutation's population frequency is low, its penetrance is high, and the contribution of environment is lower with notable exceptions of PKU and few others. (dorak.info)

Three of the autosomal genes had no obvious correlation with the observed XCI skewing. (bvsalud.org)

Studies on rodent UGT genes have demonstrated that the transcription factors hepatocyte nuclear factor 1 (HNF1) and CAAT-enhancer binding protein are important positive regulators of UGT expression in the liver (Hansen et al. (aspetjournals.org)

Sex chromosomes also exert an important additional influence on sexual differentiation. (jneurosci.org)
The degree of gonadal differentiation (or "testicularization" in the presence of a specific part of the Y chromosome), in combination with expression of embryonic germ cell markers, and (a) Y specific gene(s) related to cell-cycle control and proliferation, determines this risk. (pediatricendoreviews.com)

Considering the fact that once one X chromosome is inactivated in a cell, all other cells derived from it will have the same X chromosome inactivated, this approach becomes a great tool to differentiate a monoclonal population from a polyclonal one in a female tissue. (wikipedia.org)
Labeled cosmid probes for PLP1 and androgen receptor (AR) were hybridized to nuclei of white blood cells. (centerforpediatricresearch.org)

Drug testing has been conducted predominantly on males from preclinical research in rodents to clinical trials that include few women (Mazure & Jones, 2015). (genderedinnovations-ochanomizu-univ.jp)
And if women are not included in clinical trials, the real-world effects of a medication will not be detected before it is released to the market. (genderedinnovations-ochanomizu-univ.jp)

Scleroderma is a female-prevalent autoimmune disease of unclear etiology. (bilkent.edu.tr)

Other benign and malignant cutaneous proliferative entities where the growth hormone receptor was present included histiocytomas, melanomas and acrochordons. (globale-dermatologie.com)
Genes mainly involved in coding adhesion molecules and growth factors have also been found to be upregulated in other types of CAFs, including colon ( 12 ) and pancreatic ( 13 ). (spandidos-publications.com)

Comparison with two other deletions extending beyond COL4A5 in the telomeric direction and generating only ATS allowed us to define the critical region for mental retardation (MR), which contains four candidate genes. (bmj.com)
DNA analysis showed no deletions within the alpha-globin gene cluster. (findzebra.com)
This inference was based on genotype/phenotype comparisons of individual girls and women with partial Xp deletions, with the neurocognitive phenotype considered a dichotomous trait. (biomedcentral.com)
We sought to confirm our findings in a large cohort (n = 47) of adult women with partial deletions of Xp or Xq, enriched for subjects with distal Xp deletions. (biomedcentral.com)

An intronic variant ( Int7G24A ) of TGF-β receptor type I ( TGFBR1 ) is associated with kidney and bladder cancers in our recent study. (aacrjournals.org)
These results are consistent with another study concerning the gene expression profiling of breast CAFs, which were detected using a complementary DNA microarray ( 15 ). (spandidos-publications.com)

16 Selection for the active X chromosome yielded 12 clones bearing only the normal X and five clones retaining both X chromosomes. (bmj.com)
Screening the porcine CHORI-242 BAC library with a full-length AKR1C4 cDNA identified 7 positive clones and sample sequencing of 5 BAC clones revealed 5 distinct AKR1C genes ( AKR1CL2 and AKR1C1 through 4 ), which mapped to 126-128 cM on SSC10. (biomedcentral.com)

HUMARA gene, in particular, has three important features that make it highly convenient for the purpose. (wikipedia.org)
Thanks to these qualities of HUMARA gene, clonal origin of any tissue from a female mammalian organism can be determined. (wikipedia.org)
3-) DNA is cleaned and the certain region of HUMARA gene is amplified by PCR using "suitable" primers (as an example, please see:Ref.2) 4-) After running PCR products through a gel, the gel is visualized and the results are analyzed accordingly. (wikipedia.org)

By contrast, the 10 downregulated genes were primarily associated with epithelial membrane proteins ( 11 ). (spandidos-publications.com)

The UGT2 family, in contrast, is encoded by separate genes clustered on chromosome 4q13 and consists of the UGT2A and UGT2B subfamilies. (aspetjournals.org)

Anatomy60

Organisms2

Diseases17

Chemicals and Drugs31

Analytical, Diagnostic and Therapeutic Techniques and Equipment12

Psychiatry and Psychology1

Phenomena and Processes94

Information Science3

Named Groups1

Methylation8

Chromosomal4

Deletion10

Inactive X chromosome3

Locus7

Polymorphisms4

Alleles5

Loss of Heterozygos2

Tumor3

Abnormalities3

Mutations12

Insulin2

Hormones7

Variants8

Humans3

Homologs2

Genomic3

Specific genes2

Regulation6

Syndrome7

Genetic5

Cancer13

Males and females5

Epigenetic1

Hormonal2

Syndromes2

Molecular2

PAR14

Phenotypes1

Embryogenesis1

Microsatellite1

Pathways2

Differences6

Estrogens2

Xq281

Ovarian6

Brca21

Human9

Polymerase chain re1

Haploinsufficiency2

Role2

Mechanisms1

Autosomes1

Encodes1

Genital1

Disorders2

Autosomal1

Nuclear1

Differentiation2

Cells2

Clinical2

Etiology1

Growth2

Deletions4

Study2

Clones2

HUMARA3

Membrane1

Consists1