• 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)
  • deletion in the gene. (healthdisparitiesks.org)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • Androgen ablation and chemotherapy provide effective palliation for most patients with advanced prostate cancer, but eventually progressing androgen-independent prostate cancer threatens the lives of patients usually within a few years, mandating improvement in therapy. (aacrjournals.org)
  • This trial included a large fraction of patients with androgen-independent prostate cancer. (aacrjournals.org)
  • This Phase I trial and preclinical studies support additional testing of bortezomib in combination with radiation or chemotherapy for androgen-independent prostate cancer. (aacrjournals.org)
  • Androgens are necessary for normal prostate cell growth (1) , and in animal models, androgen ablation causes cell atrophy and death of prostate epithelial cells (2) . (aacrjournals.org)
  • Likewise, in the early stages of prostate cancer, the growth of cancerous prostatic epithelial cells is often androgen dependent (3) . (aacrjournals.org)
  • Androgen ablation remains the main initial treatment of advanced prostate cancer and provides palliation of symptoms and survival benefit. (aacrjournals.org)
  • Several mechanisms have been proposed to account for the development of androgen independence in prostate cancer cells (4) . (aacrjournals.org)
  • 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)
  • This gene has also been linked to other cancers, including androgen-independent prostate cancer. (cancer-genetics.org)
  • Most prostate cancers can be treated by targeting the androgen-receptor pathway and decreasing androgen production or binding to androgen receptors (AR). (bjbms.org)
  • 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)
  • Prostate Cancer Transcriptomic Regulation by the Interplay of Germline Risk Alleles, Somatic Mutations, and 3D Genomic Architecture. (stanford.edu)
  • We used integrative three-dimensional (3D) spatial genomics to identify the chromatin interaction targets of 45 prostate cancer risk alleles, 31 of which were associated with the transcriptional regulation of target genes in 565 localized prostate tumors. (stanford.edu)
  • The androgen receptor (AR) is known to play a critical role in prostate cancer (PC). (oncotarget.com)
  • p53 likely also plays a role given that p53 mutations are commonly found in advanced PC, and loss of wild-type protein function contributes to the phenotype of castration-resistant prostate cancer (CRPC). (oncotarget.com)
  • Androgen deprivation therapy is currently the standard treatment for locally advanced, recurrent, or metastatic prostate cancer (PC). (oncotarget.com)
  • However, most patients with metastatic carcinomas progress to a state of disease insensitive to androgen ablation, called castration resistant prostate cancer (CRPC) [ 1 , 2 ]. (oncotarget.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)
  • 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)
  • Germline mutations in BRCA2 predispose to both breast and ovarian cancer making it a good candidate gene for prostate cancer etiology. (prolekarniky.cz)
  • There is an increased risk of prostate cancer in individuals carrying a mutation in BRCA2 , particularly early-onset disease [7] - [10] . (prolekarniky.cz)
  • Chromosomal abnormalities, HLA phenotypes, and polymorphisms of various genes have been associated with acne. (springer.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)
  • This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. (cancerindex.org)
  • Methylenetetrahydrofolate reductase gene polymorphisms are not associated with embryo chromosomal abnormalities and IVF outcomes. (cdc.gov)
  • 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)
  • 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)
  • This gene thus plays a role in both cell-cycle and epigenetic regulation. (cancerindex.org)
  • Notably, mutations in the TPP1 OB-fold domain compromise telomerase-dependent telomere extension but not telomere end protection [ 18 , 21 ], indicating that TPP1 performs a role in telomerase regulation which is distinct from its contribution to chromosome end protection. (prolekarniky.cz)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • Emergence of LSC is dependent on individual or combined genetic mutations that broadly determine the cellular affiliation of the leukemia, and permit or impose ectopic self-renewal and a restricted differentiation potential into what constitutes the proliferative bulk of the leukemia ( 5 , 6 ). (frontiersin.org)
  • 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)
  • Each of us inherits hundreds of genetic mutations from our parents, as they did from their forebears. (dorak.info)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • Here we model occult preneoplasia by biallelic inactivation of TP53, a common early event in gastric cancer, in human gastric organoids. (stanford.edu)
  • A mutation in the TP53 gene overexpresses the p53 protein and increases the risk of tumor progression [ 7 ]. (biomedcentral.com)
  • Insulin-induced conformational changes in the full-length insulin receptor: structural insights gained from molecular modeling analyses. (cuhk.edu.cn)
  • It is thought that leiomyoma is the result of either transformation of normal uterine muscle cells into abnormal cells through somatic mutations , or through the growth of abnormal uterine muscle cells into tumors. (wikidoc.org)
  • Mutations in this gene have been found in somatic sebaceous tumors. (cancer-genetics.org)
  • Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not. (lookformedical.com)
  • 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 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)
  • Men of European descent with higher genetic risk were diagnosed earlier, had less genomic instability, and fewer driver genes mutated. (stanford.edu)
  • 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)
  • 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)
  • 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 protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. (cancerindex.org)
  • Further analysis revealed that a lower AR occupancy was accompanied by a reduction in FoxA1 binding at regulatory regions of AR-dependent genes. (oncotarget.com)
  • The majority of CRPCs continue to express the androgen receptor (AR) and are dependent on AR signaling for malignant progression [ 3 - 5 ]. (oncotarget.com)
  • However, this activity is regulated in an androgen receptor (AR) dependent manner. (biomedcentral.com)
  • ARA55, ARA54, ARA70, BRCA1, and heat-shock proteins) may allow cells to become independent of androgens (intrinsic activation). (aacrjournals.org)
  • This gene encodes a transcription factor belonging to a family of proteins that share homology with the high mobility group protein-1. (cancer-genetics.org)
  • With the launch of the human proteome project (HPP), the association of Y chromosome proteins with pathological conditions has been increasingly explored. (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)
  • Both 1 and 6 have short C terminal regions that lack the consensus PDZ1 binding motif that is a distinctive characteristic of the four subunits known collectively because the TARP proteins Chromoblastomycosis that control AMPA receptor trafficking and function. (plcsignaling.com)
  • Androgen receptor splice variant 7 (AR-V7) is an important oncogenic driver and an early diagnostic and prognostic marker, as well as a therapeutic target in hormone-resistant CRPC. (bjbms.org)
  • However, androgen-independent cells are eventually selected during androgen ablation therapy (4) , and progression to an androgen-independent state remains the primary cause of mortality in these patients within an average of 1.5 years. (aacrjournals.org)
  • 1981), with mental retardation and alpha-thalassemia without molecular abnormalities of the alpha-globin gene complex on chromosome 16p. (findzebra.com)
  • In essence, there is evidence for a molecular androgen memory at both the transcriptome and the epigenome level. (pediatricendoreviews.com)
  • Specific molecular therapy can target mutated cell lines in which DNA defect repair is altered, caused by mutations of BRCA2, partner and localizer of BRCA2 (PALB2), and phosphatase and tensin homolog (PTEN) or the transmembrane protease serine 2-ERG (TMPRSS2-ERG) fusion. (bjbms.org)
  • Understanding the molecular mechanisms underlying Y chromosome-related diseases can have a significant impact on the prevention, diagnosis, and treatment of diseases. (biomedcentral.com)
  • Germline mutations in BRCA2 predispose to breast and ovarian cancer with its predominant tumour suppressor function thought to be the repair of DNA double-strand breaks. (prolekarniky.cz)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. (lookformedical.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)
  • In addition, the DNA in our own cells undergoes an estimated 30 new mutations during our lifetime, either through mistakes during DNA copying or cell division or, more often, because of damage from the environment. (dorak.info)
  • Scope includes mutations and abnormal protein expression. (cancerindex.org)
  • Oncogenic mutations or abnormal expression of signaling components disrupt the regulatory networks that govern cell function, thus enabling tumor cells to undergo dysregulated mitogenesis, to resist apoptosis, and to promote invasion to neighboring tissues. (eurekaselect.com)
  • Hepatocyte growth factor (HGF) is produced by stromal and mesenchymal cells, and it stimulates epithelial cell proliferation, motility, morphogenesis and angiogenesis in various organs via tyrosine phosphorylation of its cognate receptor, Met. (spandidos-publications.com)
  • point stop mutations), hemophilia ( A , B ), phenylketonuria -PKU (point mutation), Duchenne muscular dystrophy (DMD) , adenosine deaminase (ADA) deficiency causing severe combined immune deficiency (SCID), Tay-Sachs disease (hexosaminidase A deficiency). (dorak.info)
  • 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)
  • 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)
  • Labeled cosmid probes for PLP1 and androgen receptor (AR) were hybridized to nuclei of white blood cells. (centerforpediatricresearch.org)
  • 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)
  • 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)
  • What pathways are this gene/protein implicaed in? (cancer-genetics.org)
  • Altered expression of HOX genes may be important for oncogenesis and tumor suppression by influencing various pathways that promote tumorigenesis and metastasis. (biomedcentral.com)
  • DBC1 functions as a coactivator for AR-V7 and is required for the expression of AR-V7 target genes including CDH2, a mesenchymal marker linked to CRPC progression. (cancerindex.org)
  • Our study also identifies a pool of genes that may be transcriptionally regulated by AR only in the absence of p53, and that may contribute to the CRPC phenotype. (oncotarget.com)
  • In this study, we have identified TIN2-R282H, the most common DC-causing mutation in shelterin subunit TIN2, as a separation-of-function mutant which impairs telomerase recruitment to telomeres, but not chromosome end protection. (prolekarniky.cz)
  • The multi-subunit shelterin complexes bind along mammalian telomeres, shielding the natural chromosome ends from engaging the DNA damage signaling and repair machinery [ 1 ]. (prolekarniky.cz)
  • Mutations in this gene predispose humans to breast and ovarian cancer. (lookformedical.com)
  • 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)
  • 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)
  • The vast majority of cases are sporadic, but rare familial forms have allowed the disease gene to be mapped to chromosome Xq28. (bmj.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)
  • There were no significant associations between CDK2AP1 expression and estrogen receptor status, tumour grade and tumour type. (cancerindex.org)
  • Hormonal influences are attributable to deficient ovarian production of estrogen, androgen, or both. (biomedcentral.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)
  • 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)
  • The presence or absence of androgens acting via the androgen receptor plays a key role therein. (pediatricendoreviews.com)
  • The telomerase recruitment defect conferred by TIN2-R282H is likely through a mechanism independent of TIN2's role in anchoring TPP1 at telomeres, since TPP1 localization to telomeres is unaffected by the mutation. (prolekarniky.cz)
  • 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)
  • The role of TRAIL/TRAIL receptors in central nervous system pathology. (mdc-berlin.de)
  • 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)
  • The protein encoded by this gene can bind to a functionally important site in the T-cell receptor-alpha enhancer, thereby conferring maximal enhancer activity. (cancer-genetics.org)
  • Nakamura, 2001}, there is inactivation of one of the two genes of the Human activated receptor of androgens (HUMARA). (globale-dermatologie.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)
  • 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)
  • We will use the model to analyze how tandem gene duplication can alter the myelin program in males and the X-chromosome inactivation pattern in females. (centerforpediatricresearch.org)
  • 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)
  • Mutations in shelterin components cause Dyskeratosis Congenita (DC) and related disease syndromes due to the inability to maintain telomere homeostasis. (prolekarniky.cz)
  • 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)
  • Using the IMpRH 7000rad and IMNpRH2 12000rad radiation hybrid panels, these 5 genes mapped between microsatellite markers SWR67 and SW2067 . (biomedcentral.com)