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  • Clonality
  • Molecular techniques to diagnose hematological malignancies based on the detection of clonality have been with us since the mid-1980s, based on the seminal observation that lymphoid cells rearrange their antigen receptor genes and that recurrent genetic rearrangements are present in myeloid neoplasms. (springer.com)
  • T-cell clonality determination using polymerase chain reaction (PCR) amplification of the T-cell receptor gamma-chain gene and capillary electrophoresis of fluorescently labeled PCR products. (springer.com)
  • In the present study, a case of primary pulmonary NK cell lymphoma from a 73-year-old Chinese female patient is reported and its clinicopathological characteristics, immunophenotype, EBV in situ hybridization, T cell receptor (TCR) gene rearrangement, and clonality are described. (biomedcentral.com)
  • Mutation
  • Once the total outcomes of the two molecular analyses had been mixed, 28.6% from the cases were discordant in X-chromosome inactivation design and/or mutation, recommending multicentric origin. (immune-source.com)
  • mutation, clonal evaluation, HUMARA, intraglandular metastasis, multicentric incident, multiple papillary thyroid carcinoma, X-chromosome inactivation design Launch Papillary thyroid carcinoma (PTC) may be the most typical thyroid carcinoma, accounting for about 90% of all thyroid malignancies 1C3. (immune-source.com)
  • Mutation and imprinting of the XIST gene, a part of the X inactivation centre, can result in skewing. (wikipedia.org)
  • Sp1 is a transcription factor that binds GC-rich consensus sequences, and mutation of the SRY binding sites leads to a 90% reduction in gene transcription. (wikipedia.org)
  • Mutation of the Zinc fingers or inactivation of WT1 results in reduced male gonad size. (wikipedia.org)
  • In this case, should a cell sustain only one mutation in the other RB gene, all Rb in that cell would be ineffective at inhibiting cell cycle progression, allowing cells to divide uncontrollably and eventually become cancerous. (wikipedia.org)
  • The androgen receptor (AR), which is defective due to a mutation in most of these syndromes, is a type of nuclear receptor that is activated by binding to either of the androgenic hormones (testosterone or dihydrotestosterone) in the cytoplasm, and then translocates into the nucleus where it binds to DNA, provided androgen response elements and coactivators are present. (wikipedia.org)
  • Less common are SRY-negative XX males which can be caused by a mutation in an autosomal or X chromosomal gene. (wikipedia.org)
  • Cytogenetic studies localized the region to the long arm of chromosome 13, and molecular genetic studies demonstrated that tumorigenesis was associated with chromosomal mechanisms, such as mitotic recombination or non-disjunction, that could lead to homozygosity of the mutation. (wikipedia.org)
  • clonal
  • Design and standardization of PCR primers and protocols for detection of clonal immunoglobulin and T-cell receptor gene recombinations in suspect lymphoproliferations: report of the BIOMED-2 Concerted Action BMH4-CT98-3936. (springer.com)
  • Thanks to these qualities of HUMARA gene, clonal origin of any tissue from a female mammalian organism can be determined. (wikipedia.org)
  • Two of three evaluable cases had a monoclonal pattern of inactivation, and the third case had a clonal expansion of cells with an altered microsatellite repeat sequence. (nih.gov)
  • The clinicopathologic characteristics, immunophenotype, EBV in situ hybridization, and T cell receptor (TCR) gene rearrangement of primary pulmonary NK cell lymphoma from a 73-year-old Chinese woman were investigated and the clonal status was determined using female X-chromosomal inactivation mosaicism and polymorphisms at the phosphoglycerate kinase (PGK) gene. (biomedcentral.com)
  • In addition, TCR gene rearrangement and clonal analysis, which is based on female X-chromosomal inactivation mosaicism and polymorphisms at PGK and androgen receptor (AR) loci, were found to play important roles in differentiating NK cell lymphoma from T cell lymphoma. (biomedcentral.com)
  • LOH and X-chromosome inactivation assays show that the coexisting tumors in many cases of multifocal urothelial carcinoma have a unique clonal origin and arise from independently transformed progenitor urothelial cells, supporting the "field effect" theory for urothelial carcinogenesis. (aacrjournals.org)
  • exhibited that a distinct allele of the X-chromosome was inactivated in different tumor foci in three out of eight cases with multifocal PTC, suggesting independent clonal origins of these foci 13. (immune-source.com)

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  • HUMARA
  • HUMARA gene, in particular, has three important features that make it highly convenient for the purpose. (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)
  • Table 1 Reported concordance of X-chromosome inactivation patterns in multifocal papillary thyroid carcinoma by HUMARA Although many investigators in the field of thyroid pathology are interested in Dovitinib Dilactic acid the pathogenesis of multifocal PTCs, the principal mechanism responsible for multifocal PTCs must still be decided. (immune-source.com)
  • amplification
  • Amplification of the CCND1 gene is present in: non-small cell lung cancers (30-46%) head and neck squamous cell carcinomas (30-50%) pancreatic carcinomas (25%) bladder cancer (15%) pituitary adenomas (49-54%) breast carcinoma (13%) Cyclin D1 overexpression is strongly correlated to ER+ breast cancer and deregulation of cyclin D1 is associated with hormone therapy resistance in breast cancer. (wikipedia.org)
  • transcription
  • This combination functions as a transcription complex to turn on androgen gene expression. (wikipedia.org)
  • MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. (wikipedia.org)
  • Cyclin D1-CDK4 inhibits pRb through phosphorylation, allowing E2F transcription factors to transcribe genes required for entry into the S phase. (wikipedia.org)
  • polymorphisms
  • Recently, we have read with great interest the article entitled "The association between polymorphisms in the leptin receptor (LEPR) gene and risk of breast cancer: a systematic review and pooled analysis" published online by Wang et al. (cancerindex.org)
  • The purpose of this systematic meta-analysis was to evaluate the association between leptin (LEP) and leptin receptor (LEPR) gene polymorphisms and non-Hodgkin lymphoma (NHL) risk. (cancerindex.org)
  • endogenous
  • In contrast, the other endogenous androgens dihydrotestosterone (DHT) and androstenedione show low affinity for the receptor with less than 1% of that of testosterone, although DHT is still effective in activating the receptor at sufficiently high concentrations. (wikipedia.org)
  • Moreover, the synthetic androgens mibolerone and metribolone (R-1881), the endogenous androgen 11-ketotestoterone, and the other steroid hormones estradiol and cortisol are all ineffective competitors for the receptor. (wikipedia.org)
  • multifocal
  • A more recent study showed a high frequency of the same inactivation pattern (nine of 11 cases), which suggests that individual tumors arise from a single clone and that intraglandular metastasis may play an important role in the formation of multifocal PTCs 12. (immune-source.com)
  • tissue
  • 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)
  • Thus, when DNA from a healthy female tissue is amplified by PCR for a specific region of the gene, two separated bands can be seen on the gel. (wikipedia.org)
  • Although in vitro experiments indicate that androgens inhibit breast cell growth ( 1 , 2 ), higher circulating androgen levels in breast cancer cases compared with controls ( 3 ) point to a possible adverse influence of androgenic stimulation in breast cancer tissue. (aacrjournals.org)
  • Researchers hypothesized a link between the slight preference for inactivation of the paternal X in mice tissue, and the preference in extra-embryonic tissue and Marsupials. (wikipedia.org)
  • ZIP9 membrane androgen receptor was first discovered in Atlantic croaker (Micropogonias undulatus) brain, ovary and testicular tissues and named "AR2" in 1999, together with another androgen receptor which was found only in brain tissue, and it was named "AR1" in that time. (wikipedia.org)
  • ZIP9 influxes zinc ions into the cytosol and its gene is expressed almost in every tissue of human body. (wikipedia.org)
  • Synthetic LXR agonist GW3965 improves glucose tolerance in a murine model of diet-induced obesity and insulin resistance by regulating genes involved in glucose metabolism in liver and adipose tissue. (wikipedia.org)
  • mice
  • Previous findings that duplicated Toll-like receptor 7 ( Tlr7 ) promotes lupus-like disease in male BXSB mice prompted us to evaluate TLR7 in human SLE. (pnas.org)
  • Serotonergic gene inactivation in mice: models for anxiety and aggression? (wiley.com)
  • Skewed X inactivation in mice is controlled by the Xce gene on the X chromosome. (wikipedia.org)
  • SRY gene has little in common with sex determination genes of other model organisms, and mice are the main model research organisms that can be utilized for its study. (wikipedia.org)
  • Scientists have created a DKK1 knockout model in mice that revealed the effects of this gene. (wikipedia.org)
  • mosaic
  • The normal human female as a mosaic of X-chromosome activity: studies using the gene for G-6-PD-deficiency as a marker. (springer.com)
  • 2 Cells expressing the mutant X-chromosome are interspersed with cells expressing the normal X-chromosome, creating a mosaic pattern with the proportion of cells expressing the mutant X-chromosome determining the extent and severity of disease. (arvojournals.org)
  • DAX1
  • DAX1 represses masculinizing genes, therefore, if there is a loss of function of DAX1 then testes can develop in an XX individual. (wikipedia.org)
  • Thus
  • 5 CTCF was shown to be involved in X chromosome counting, the first step of XCI, along with non-coding RNA Jpx , and thus haploinsufficiency of CTCF would result in aberrant XCI. (bmj.com)
  • The extraembryonic tissues (which give rise to the placenta and other tissues supporting the embryo) retain this early imprinted inactivation, and thus only the maternal X chromosome is active in these tissues. (wikipedia.org)
  • One explanation for this disparity is that over 25%[citation needed] of genes on the inactivated X chromosome remain expressed, thus providing women with added protection against defective genes coded by the X-chromosome. (wikipedia.org)
  • With LH attached, the receptor shifts conformation and thus mechanically activates the G protein, which detaches from the receptor and activates the cAMP system. (wikipedia.org)
  • tissues
  • LXRβ is expressed in almost all tissues and organs, hence the early name UR (ubiquitous receptor). (wikipedia.org)
  • Cancer is a classic example of what evolutionary biologists call multilevel selection: at the level of the organism, cancer is usually fatal so there is selection for genes and the organization of tissues that suppress cancer. (wikipedia.org)
  • Xq28
  • The MECP2 gene is located on the long (q) arm of the X chromosome in band 28 ("Xq28"), from base pair 152,808,110 to base pair 152,878,611. (wikipedia.org)
  • activates
  • Upon binding of LH to the external part of the membrane spanning receptor, a transduction of the signal takes place that activates the G protein that is bound to the receptor internally. (wikipedia.org)
  • binds
  • Cyclin D1 also binds to histone acetylases and histone deacetylases to regulate cell proliferation and cell differentiation genes in the early to mid-G1 phase. (wikipedia.org)
  • After activation, LXR binds to LXR response element (LXRE), usually a variant of the idealized sequence AGGTCAN4AGGTCA, in the promoters of LXRs' target genes. (wikipedia.org)
  • normal
  • Despite the haploinsufficiency of CTCF, X chromosome inactivation was normal. (bmj.com)
  • This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. (cancerindex.org)
  • mild androgen insensitivity syndrome (MAIS) is indicated when the external genitalia are that of a normal male, and partial androgen insensitivity syndrome (PAIS) is indicated when the external genitalia are partially, but not fully, masculinized. (wikipedia.org)
  • Researchers have not yet determined which genes are targeted by the MeCP2 protein, but such genes are probably important for the normal function of the central nervous system. (wikipedia.org)
  • When the X with the SRY gene combines with a normal X from the mother during fertilization, the result is an XX male. (wikipedia.org)
  • transcriptional
  • This was an unexpected finding which suggests that MeCP2 is a key transcriptional regulator with potentially dual roles in gene expression. (wikipedia.org)
  • protein encoded by this gene
  • The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. (wikipedia.org)
  • The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. (wikipedia.org)
  • syndrome
  • The role of MECP2 in disease is primarily associated with either a loss of function (under expression) of the MECP2 gene as in Rett syndrome or in a gain of function (over expression) as in MECP2 Duplication Syndrome. (wikipedia.org)
  • In 90% of these individuals the syndrome is caused by unequal crossing over between X and Y chromosomes during meiosis in the father, and results in the X chromosome containing the SRY gene, as opposed to the Y chromosome where it is normally found. (wikipedia.org)
  • Genetic
  • The critical role of the Y chromosome and of male hormones in male orientation is well documented, the development of the female sexual differentiation occurring in the absence of male genetic determinants. (gfmer.ch)
  • Genetic sex is established at the time of fecundation by the nature of the chromosomal composition of the spermatozoon, whether it contains a Y chromosome which has a dominant effect (23,Y constitution), or an X chromosome (23,X constitution). (gfmer.ch)
  • XX males that are SRY-positive have two X chromosomes, with one of them containing genetic material from the Y chromosome, making them phenotypically male but genetically female. (wikipedia.org)
  • For an individual cell or lineage the inactivation is therefore skewed or 'non-random', and this can give rise to mild symptoms in female 'carriers' of X-linked genetic disorders. (wikipedia.org)
  • autosomal
  • However, testis development must only be possible through the interaction of Sry gene with other genes, located on autosomal chromosomes, some of which being involved in the regulation of Sry expression, others possibly being downstream targets of Sry (27). (gfmer.ch)
  • Less common are SRY-negative XX males which can be caused by a mutation in an autosomal or X chromosomal gene. (wikipedia.org)
  • DAX1
  • DAX1 represses masculinizing genes, therefore, if there is a loss of function of DAX1 then testes can develop in an XX individual. (wikipedia.org)
  • testis
  • Sex chromosomes promote the development and the differentiation of the primary gonad but the decisive influences are the presence or absence of testosterone and of antimüllerian hormone production by the testis. (gfmer.ch)
  • The development of such gonad into a testis depends upon the presence of the Y chromosome (59), whereas the absence of the Y chromosome will result in female development, irrespective of the number of X chromosomes (12,31,42). (gfmer.ch)
  • Several years ago, such effect was supposed to be linked to a male-specific histocompatibility gene named the H-Y antigen (34), which was thought to be the primary testis-inducer (58). (gfmer.ch)
  • Since then several genes have been proposed as candidates for the testis-determining factor ( Fig. 1 ). (gfmer.ch)
  • tissues
  • Since the evolution of such a complex regulatory system would require significant energy resources (to cover the production of the various mediators and modulators of gene action and their distribution in the different tissues and organs) one might assume a need for a justification for its evolutionary maintenance within the global context of cellular economy. (biomedcentral.com)
  • LXRβ is expressed in almost all tissues and organs, hence the early name UR (ubiquitous receptor). (wikipedia.org)
  • Cancer is a classic example of what evolutionary biologists call multilevel selection: at the level of the organism, cancer is usually fatal so there is selection for genes and the organization of tissues that suppress cancer. (wikipedia.org)
  • The extraembryonic tissues (which give rise to the placenta and other tissues supporting the embryo) retain this early imprinted inactivation, and thus only the maternal X chromosome is active in these tissues. (wikipedia.org)
  • exons
  • The hTERT gene, located on chromosome 5, consists of 16 exons and 15 introns spanning 35 kb. (wikipedia.org)
  • The core promoter of hTERT includes 330 base pairs upstream of the translation start site (AUG since it's RNA by using the words "exons" and "introns"), as well as 37 base pairs of exon 2 of the hTERT gene. (wikipedia.org)
  • consists
  • The human genome consists of two copies of each of 23 chromosomes (a total of 46). (wikipedia.org)
  • The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component that serves as a template for the telomere repeat. (wikipedia.org)
  • Cancer
  • Although in vitro experiments indicate that androgens inhibit breast cell growth ( 1 , 2 ), higher circulating androgen levels in breast cancer cases compared with controls ( 3 ) point to a possible adverse influence of androgenic stimulation in breast cancer tissue. (aacrjournals.org)
  • Genes Chromosomes Cancer 55(9):677-687. (embl.de)
  • The official symbol (BRCA1, italic for the gene, nonitalic for the protein) and the official name (breast cancer 1) are maintained by the HGNC. (wikipedia.org)
  • The first evidence for the existence of a gene encoding for a DNA repair enzyme involved in breast cancer susceptibility was provided by Mary-Claire King's laboratory at UC Berkeley in 1990. (wikipedia.org)
  • Amplification of the CCND1 gene is present in: non-small cell lung cancers (30-46%) head and neck squamous cell carcinomas (30-50%) pancreatic carcinomas (25%) bladder cancer (15%) pituitary adenomas (49-54%) breast carcinoma (13%) Cyclin D1 overexpression is strongly correlated to ER+ breast cancer and deregulation of cyclin D1 is associated with hormone therapy resistance in breast cancer. (wikipedia.org)
  • in fact, up to 70% of men with prostate cancer are estimated to have lost a copy of the PTEN gene at the time of diagnosis. (wikipedia.org)
  • marsupials
  • Researchers hypothesized a link between the slight preference for inactivation of the paternal X in mice tissue, and the preference in extra-embryonic tissue and Marsupials. (wikipedia.org)
  • mutation
  • Sp1 is a transcription factor that binds GC-rich consensus sequences, and mutation of the SRY binding sites leads to a 90% reduction in gene transcription. (wikipedia.org)
  • Mutation of the Zinc fingers or inactivation of WT1 results in reduced male gonad size. (wikipedia.org)
  • In this case, should a cell sustain only one mutation in the other RB gene, all Rb in that cell would be ineffective at inhibiting cell cycle progression, allowing cells to divide uncontrollably and eventually become cancerous. (wikipedia.org)
  • Mutation and imprinting of the XIST gene, a part of the X inactivation centre, can result in skewing. (wikipedia.org)
  • differentiation
  • SRY is a gene which regulates sexual differentiation. (wikipedia.org)
  • On the other hand, common elements appear throughout the animal kingdom, with regard to a) conserved key genes and b) a central role of sex steroid control as a prerequisite for ultimately normal sex differentiation. (biomedcentral.com)
  • Gene knockdown of Oct-4 promotes differentiation, thereby demonstrating a role for these factors in human embryonic stem cell self-renewal. (wikipedia.org)
  • Cyclin D1 also binds to histone acetylases and histone deacetylases to regulate cell proliferation and cell differentiation genes in the early to mid-G1 phase. (wikipedia.org)
  • sequence
  • However, an homologous sequence called zinc finger X (ZFX) was found on the X chromosome which questioned this hypothesis. (gfmer.ch)
  • This allows for the recruitment of histone acetyltransferase (HAT) to unwind the sequence allowing for transcription of the gene. (wikipedia.org)
  • After activation, LXR binds to LXR response element (LXRE), usually a variant of the idealized sequence AGGTCAN4AGGTCA, in the promoters of LXRs' target genes. (wikipedia.org)
  • mosaic
  • 2 Cells expressing the mutant X-chromosome are interspersed with cells expressing the normal X-chromosome, creating a mosaic pattern with the proportion of cells expressing the mutant X-chromosome determining the extent and severity of disease. (arvojournals.org)
  • normally
  • In 90% of these individuals the syndrome is caused by unequal crossing over between X and Y chromosomes during meiosis in the father, and results in the X chromosome containing the SRY gene, as opposed to the Y chromosome where it is normally found. (wikipedia.org)
  • SRY gene effects normally take place 6-8 weeks after foetus formation and inhibits the female anatomical structural growth in males. (wikipedia.org)
  • transcriptional
  • This was an unexpected finding which suggests that MeCP2 is a key transcriptional regulator with potentially dual roles in gene expression. (wikipedia.org)
  • human
  • This 14-kb gene has been named sex-determining region of the Y (SRY) in the human. (gfmer.ch)
  • The Human Y Chromosome showing the SRY gene. (wikipedia.org)
  • A human egg contains only one set of chromosomes (23) and is said to be haploid . (wikipedia.org)
  • The sex chromosome in a human egg is always an X chromosome, since a female only has X sex chromosomes. (wikipedia.org)
  • The single survivin gene can give rise to four different alternatively spliced transcripts: Survivin, which has a three-intron-four-exon structure in both the mouse and human. (wikipedia.org)
  • The human LXRα gene is located on chromosome 11p11.2, while the LXRβ gene is located on chromosome 19q13.3. (wikipedia.org)
  • Crystal structure of human liver X receptor β(LXRβ) forming heterodimer with its partner retinoid X receptor α(RXRα) on its cognate element, an AGGTCA direct repeat spaced by 4 nt shows an extended X-shaped arrangement, with DNA- and ligand-binding domains crossed, in contrast to the parallel domain arrangement of other NRs that bind an AGGTCA direct repeat spaced by 1 nt. (wikipedia.org)
  • BRCA1 and BRCA1 (/ˌbrækəˈwʌn/) are a human gene and its protein product, respectively. (wikipedia.org)
  • The human BRCA1 gene is located on the long (q) arm of chromosome 17 at region 2 band 1, from base pair 41,196,312 to base pair 41,277,500 (Build GRCh37/hg19) (map). (wikipedia.org)
  • regulates
  • However, it remains controversial whether MeCP2 regulates these genes directly or whether these changes are secondary in nature. (wikipedia.org)
  • Thus
  • Thus, when DNA from a healthy female tissue is amplified by PCR for a specific region of the gene, two separated bands can be seen on the gel. (wikipedia.org)
  • One explanation for this disparity is that over 25%[citation needed] of genes on the inactivated X chromosome remain expressed, thus providing women with added protection against defective genes coded by the X-chromosome. (wikipedia.org)
  • With LH attached, the receptor shifts conformation and thus mechanically activates the G protein, which detaches from the receptor and activates the cAMP system. (wikipedia.org)
  • embryo
  • The presence of the translocated SRY gene leads to an XX embryo developing male characteristics. (wikipedia.org)
  • In the early blastocyst, this initial, imprinted X-inactivation is reversed in the cells of the inner cell mass (which give rise to the embryo), and in these cells both X chromosomes become active again. (wikipedia.org)
  • It is understood that X-chromosome inactivation is a random process, occurring at about the time of gastrulation in the epiblast (cells that will give rise to the embryo). (wikipedia.org)
  • determination
  • Sex determination is a complicated process involving large-scale modifications in gene expression affecting virtually every tissue in the body. (biomedcentral.com)
  • The SRY gene plays an important role in sex determination by initiating testicular development. (wikipedia.org)
  • SRY gene has little in common with sex determination genes of other model organisms, and mice are the main model research organisms that can be utilized for its study. (wikipedia.org)
  • expression
  • The complementary result for the X-chromosome follows, either a double or a single X. Therefore, direct sex differences are usually binary in expression (although the deviations in complex biological processes produce a menagerie of exceptions). (wikipedia.org)
  • The role of MECP2 in disease is primarily associated with either a loss of function (under expression) of the MECP2 gene as in Rett syndrome or in a gain of function (over expression) as in MECP2 Duplication Syndrome. (wikipedia.org)
  • female
  • In some cases, for example, chromosomally female babies that have been exposed to high levels of androgens before birth can develop masculinized genitals by the time they are born. (wikipedia.org)
  • 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)
  • Thanks to these qualities of HUMARA gene, clonal origin of any tissue from a female mammalian organism can be determined. (wikipedia.org)
  • insulin
  • Synthetic LXR agonist GW3965 improves glucose tolerance in a murine model of diet-induced obesity and insulin resistance by regulating genes involved in glucose metabolism in liver and adipose tissue. (wikipedia.org)
  • Estrogens
  • It specifically acts to up-regulate the enzyme cholesterol side chain cleaving enzyme, which leads to the greater conversion of cholesterol into androgen precursors required to make many steroid hormones, including testosterone and estrogens. (wikipedia.org)