• MEN1 encodes a transcriptional regulator protein, menin. (medscape.com)
  • The CF gene encodes the CF transmembrane regulator (CFTR), a membrane bound protein capable of chloride ion transport [ 1 ]. (hindawi.com)
  • This gene encodes one of the non-ATPase subunits of the 19S regulator lid. (novusbio.com)
  • TTC triplet repeat expansion in an intron of the nuclear FXN gene, which encodes the essential mitochondrial protein frataxin ( 1 ). (frontiersin.org)
  • The tumor suppressor gene p16/cyclin-dependent kinase inhibitor-2A (CDKN2A) is located within the chromosomal region 9p21 and encodes a cell-cycle protein that is an inhibitor of cyclin-dependent kinases (CDK)-4 and -6. (iiarjournals.org)
  • 3] Nearly all patients with NBS are homozygous for the same founder mutation, ie, deletion of 5 bp (657del5) in the NBS1 gene, which encodes the protein nibrin. (medscape.com)
  • This gene encodes a basic helix-loop-helix transcription factor which is expressed in oligodendroglial tumors of the brain. (thermofisher.com)
  • This gene encodes a transcription factor that regulates MHC class II genes by binding to a promoter element referred to as an X box. (cancerindex.org)
  • It encodes a membrane-associated protein called the cystic fibrosis transmembrane conductance regulator (CFTR). (msdmanuals.com)
  • Cystic fibrosis, a progressive genetic disease that causes long-term lung infections and limits the ability to breathe over time, is caused by variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7. (genome.gov)
  • Cystic fibrosis (CF) is an autosomal recessive condition caused by the mutation of the cystic fibrosis trans-membrane regulator gene (CFTR) on chromosome 7. (who.int)
  • sults: sodium 133 mmol/L, potassium membrane regulator gene ( CFTR ) on He was readmitted 5 more times 3.4 mmol/L, chloride 100 mmol/L and chromosome 7. (who.int)
  • Regulator of chromosome condensation 1, also known as RCC1, Ran guanine nucleotide exchange factor and RanGEF, is the name for a human gene and protein. (wikipedia.org)
  • Enables cyclin-dependent protein serine/threonine kinase regulator activity. (nih.gov)
  • TTC triplet in the first intron of the FXN gene, encoding the essential mitochondrial protein frataxin. (frontiersin.org)
  • The protein is an essential regulator of ventral neuroectodermal progenitor cell fate. (thermofisher.com)
  • They assigned 88 percent or 23,529 of these protein-coding genes to one of the 10 chromosomes in the Criollo cacao tree. (phys.org)
  • The roles of b-catenin are 'classically' defined: as an adhesion protein and as a signaling protein, transducing extracellular signals to the nucleus to modify gene expression. (chemdiv.com)
  • This gene product is a bZIP protein, which was also identified as a cellular transcription factor that binds to an enhancer in the promoter of the T cell leukemia virus type 1 promoter. (cancerindex.org)
  • What does this gene/protein do? (cancerindex.org)
  • Traditional bioinformatics methods including gene ontology (GO) and pathways enrichment analyses of DEGs combined protein-protein interaction (PPI) network and cytohubber calculating software as well as Molecular Complex Detection (MCODE) analysis were used to analyze the key gene and pathway. (hindawi.com)
  • Analysis of an 11.7 kb DNA fragment of chromosome XI reveals a new tRNA gene and four new open reading frames including a leucine zipper protein and a homologue to the yeast mitochondrial regulator ABF2. (wikigenes.org)
  • In summary, our results show significant genetic effects of the CORT + DFP treatment, which mirrors gene and protein expression changes seen in GWI sufferers, providing insight into the disease and a testbed for future interventions. (cdc.gov)
  • A potential eQTL representing a putative master regulator of several genes in the insulin signaling pathway exists on chromosome 4. (usda.gov)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • MEN-1 is due to mutations in the tumor suppressor gene MEN1, located on chromosome 11q13. (medscape.com)
  • Cystic fibrosis (CF) is an autosomal recessively inherited disease, caused by mutations in the CF gene located at chromosome 7. (hindawi.com)
  • Point mutations in the MCIR gene will affect melanogenesis. (utah.edu)
  • The presence of point mutations in the MCIR gene alleles is a common feature in light skinned and blue/green eyed people (J.A.W. Metzelaar-Blok et al. (utah.edu)
  • APS1 is caused by gene mutations in the autoimmune regulator gene, AIRE , on chromosome 21q22. (dermnetnz.org)
  • These gene mutations lead to autoantibodies and cause chronic inflammatory cell infiltrates in the affected organs. (dermnetnz.org)
  • Omenn syndrome is the result of mutations in the genes coding for recombinases (recombination activating genes). (medscape.com)
  • DNA sequence analyses and reporter gene assays were performed in order to identify candidate gene mutations. (bmj.com)
  • The genomic island harbours genes for the restriction-modification system commonly found on SCC elements, a putative transposon with IS6 family element similar to IS431mec, a putative transcriptional regulator and accessory genes, which have been found frequently on plasmids. (muni.cz)
  • Some genes act as instructions to make molecules called proteins. (medlineplus.gov)
  • However, many genes do not code for proteins . (medlineplus.gov)
  • The coiled-coil domain is a structural motif found in proteins that are involved in a diverse array of biological functions such as the regulation of gene expression, cell division, membrane fusion and drug extrusion and delivery. (antikoerper-online.de)
  • The fusion proteins SYT-SSX1 and SYT-SSX2 are believed to function as aberrant transcriptional regulators, resulting in either activation of proto-oncogenes or inhibition of tumor suppressor genes. (medscape.com)
  • The researchers assembled 84 percent of the genome identifying 28,798 genes that code for proteins. (phys.org)
  • It has been found that upon accumulation of unfolded proteins in the endoplasmic reticulum (ER), the mRNA of this gene is processed to an active form by an unconventional splicing mechanism that is mediated by the endonuclease inositol-requiring enzyme 1 (IRE1). (cancerindex.org)
  • To reduce the risk of analyzing cell line- pathway can be divided into distinct stages based on the specific features, we used several representative cell lines for recombination status of the Ig genes and on the expression each of four major stages in B cell development: pro-B, pre-B, pattern of surface markers and the presence of intracellular proteins [1- 6]. (lu.se)
  • This specific chromosomal translocation between chromosome X and chromosome 18 has been noted in more than 90% of cases. (medscape.com)
  • The gene is involved in a chromosomal translocation t(14;21)(q11.2;q22) associated with T-cell acute lymphoblastic leukemia. (thermofisher.com)
  • Mixed lineage leukemia is caused by a chromosomal translocation of the gene named MLL, resulting in its fusion to a seemingly random collection of other genes. (stowers.org)
  • The Regulator of Chromosome Condensation 1 (RCC1) was identified over 20 years ago as a critical cell cycle regulator. (nih.gov)
  • By interrogating microarray data from neuronal cells treated with inhibitors of different specificity, we selected two genes encoding histone macroH2A ( H2AFY2 ) and Polycomb group ring finger 2 ( PCGF2 ) that were specifically down-regulated by the inhibitors targeting HDACs1 and 3 versus the more selective inhibitors for further investigation. (frontiersin.org)
  • Among them, 25 cases presented deletion of p16 gene in 21.43%-86.3% of the examined cells. (iiarjournals.org)
  • However, the function of SEC in our cells is not to give us leukemia, but rather to regulate transcription of developmentally regulated genes, and therefore, we tried to learn more about the normal biological function of SEC. (stowers.org)
  • In light of the functional links between MLL and SEC emerging from Shilatifard's lab it made sense to study the induction of Hox genes in murine embryonic stem cells, as model system to learn more about SEC and its role during early development," recalls Krumlauf. (stowers.org)
  • Hox genes are not only rapidly turned on in differentiating ES cells but because precise regulation of their gene expression is so important to coordinating normal development, they seem to use every known mechanism in the book," says Krumlauf. (stowers.org)
  • Gene expression provides cells with a blueprint that orchestrates their behavior, including growth, death, and responses to changes in the cellular environment. (technologynetworks.com)
  • however, cancer cells express genes that carry a defective set of instructions that often lead to uncontrolled growth. (technologynetworks.com)
  • Cairns and his colleagues, including lab members Cedric Clapier, PhD, and Naveen Verma built on existing knowledge using yeast cells, a classic model system to study chromosomes and gene expression. (technologynetworks.com)
  • This study has crucial implications for our ability to understand how chromosomal genes in healthy and cancer cells are exposed and expressed," said Cairns. (technologynetworks.com)
  • The bone marrow contains various populations of skeletal stem cells (SSCs) in the stromal compartment, which are important regulators of bone formation. (nature.com)
  • Overall, our findings indicate that Fgfr3 + endosteal stem/stromal cells with OCT identities dictate active and aggressive osteogenesis, identifying these cells as an important regulator of long-term bone homeostasis. (nature.com)
  • A basic helix-loop-helix transcription factor that plays a critical role in HEMATOPOIESIS and as a positive regulator in the differentiation of ERYTHROID CELLS. (bvsalud.org)
  • immature cell is then subjected to negative selection to delete grouped based on their previously defined pheno- self-reactive cells before it leaves the BM to enter peripheral typic features, and a gene expression pattern for lymphoid organs, where it becomes a mature B cell [9]. (lu.se)
  • Materials and Methods: To investigate both the presence of numerical abnormalities of chromosome 9 and p16 gene alterations in ovarian cancer, we studied 28 cases by the fluorescence in situ hybridization (FISH) technique using a DNA p16 probe and an a-satellite probe specific for chromosome 9. (iiarjournals.org)
  • Results: Numerical abnormalities of chromosome 9 were found in all studied cases. (iiarjournals.org)
  • An international research effort called the Human Genome Project, which worked to determine the sequence of the human genome and identify the genes that it contains, estimated that humans have between 20,000 and 25,000 genes. (medlineplus.gov)
  • Because the Criollo trees are self-pollinating, they are generally highly homozygous, possessing two identical forms of each gene, making this particular variety a good choice for accurate genome assembly. (phys.org)
  • Interestingly, only 20 percent of the genome was made up of transposable elements, one of the natural pathways through which genetic sequences change," said Guiltinan "They do this by moving around the chromosomes, changing the order of the genetic material. (phys.org)
  • The researchers identified two types of disease resistance genes in the Criollo genome. (phys.org)
  • The team suggests that a functional genomics approach, one that looks at what the genes do, is needed to confirm potential disease resistant genes in the Criollo genome. (phys.org)
  • Hidden in the genome the researchers also found genes that code for the production of cocoa butter, a substance highly prized in chocolate making, confectionary, pharmaceuticals and cosmetics. (phys.org)
  • In participating UK research institutions, investigators can publish open access in Genome Research, Genes & Development, RNA, and Learning & Memory without article publication charges and all staff can read the entire renowned Cold Spring Harbor journal collection. (cshlpress.com)
  • Instead of being scattered about the genome randomly they congregate into tight clusters on several chromosomes. (stowers.org)
  • Once the RSC complex binds to the genome, it executes machine-like movements that expose segments of DNA in chromosomes, leading to the initiation of gene expression. (technologynetworks.com)
  • Even though diverse strains of S. aureus have been extensively studied, and subjected to genome sequencing, the function of a large proportion of their genes remains unidentified. (biomedcentral.com)
  • Genome-wide identification and expression analysis of the bZIP transcription factor family genes in response to abiotic stress in Nicotiana tabacum L. (biomedcentral.com)
  • We also identified 21 differentially expressed genes having significant QTLs related to CORT + DFP, but without evidence for untreated and DFP treated controls, suggesting regions of the genome specifically involved in the response to CORT + DFP. (cdc.gov)
  • The two expression profile datasets were integrated and we found out coexpression of differentially expressed genes (DEGs) using bioinformatics methods. (hindawi.com)
  • With the development of the gene expression profile, comparisons of differentially expressed genes that participate in the regulation of pathophysiological conditions in pathological tissue and normal tissue were available and convenient, and mRNAs gene expression profiles have been carried out in many diseases including TAD [ 6 ]. (hindawi.com)
  • Then we downloaded another microarray dataset GSE52093 [ 9 ] and screened out the coexpression of differentially expressed genes (DEGs) between TAD patients and non-TAD patients. (hindawi.com)
  • A previous collaborative study between Krumlauf's and Shilatifard's laboratories demonstrated that Hox gene expression is differentially regulated by MLL. (stowers.org)
  • MedlinePlus Genetics provides consumer-friendly gene summaries that include an explanation of each gene's normal function and how variants in the gene cause particular genetic conditions. (medlineplus.gov)
  • More information about how genetic conditions and genes are named is also available from MedlinePlus Genetics. (medlineplus.gov)
  • Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. (acog.org)
  • This fusion gene is called, in genetic terms, the SYT-SSX1 , SYT-SSX2 , or SYT-SSX4 . (medscape.com)
  • Researchers often divide genetic diseases into two classes: those that are associated with a single gene and those that are influenced by multiple genes and environmental factors. (genome.gov)
  • The suspected diagnosis of cystic fibrosis was confirmed with a sweat chloride level of 120 mmol/L and homo-zygozity for the Delta F 508 gene on genetic studies. (who.int)
  • Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)
  • Additional screens for MMTV provirus entry sites in tumors revealed several other upregulated genes that are associated with other gene development pathways such as INT2, INT3, and INT4 [4,5,6]. (chemdiv.com)
  • Thoracic aortic dissection (TAD) is a catastrophic disease worldwide, but the pathogenic genes and pathways are largely unclear. (hindawi.com)
  • This study aims at integrating two gene expression profile datasets and verifying hub genes and pathways involved in TAD as well as exploring potential molecular mechanisms. (hindawi.com)
  • they can combine with the promoter regions of key genes in signaling pathways to regulate their transcription levels and, in turn, plant resistance to stress. (biomedcentral.com)
  • The mitotic spindle ensures the faithful segregation of chromosomes. (nature.com)
  • The mitotic spindle is a dynamic microtubule-based apparatus that ensures the segregation of chromosomes during cell division. (nature.com)
  • The Centre for Genetics Education offers a fact sheet that introduces genes and chromosomes . (medlineplus.gov)
  • The Virtual Genetics Education Centre, created by the University of Leicester, offers additional information on DNA, genes, and chromosomes . (medlineplus.gov)
  • It tells the history of genetics and reports on new breakthroughs and ethical questions resulting from gene manipulation. (wkar.org)
  • So we're going to say lung cancer but with genetics or genes that share some things with leukemia. (wkar.org)
  • A polyphasic taxonomic approach based on whole genomic sequencing with expert annotation, extensive biotyping, DNA fingerprinting by rep-PCR, MALDI-TOF MS, and chemotaxonomy analyses was applied to establish their phylogenetic position and characterize virulence and drug-resistance genes. (muni.cz)
  • Three strains possess an 18.8 kb-long genomic island designated SbCIccr with a ccr gene complex designated ccrDE that had a conserved structure like a ccr gene complex from known SCC types. (muni.cz)
  • The isoform encoded by the unspliced mRNA, XBP1(U), is constitutively expressed, and thought to function as a negative feedback regulator of XBP1(S), which shuts off transcription of target genes during the recovery phase of ER stress. (cancerindex.org)
  • Important regulatory factors, TFs bind to the promoter regions of target genes and activate or inhibit their transcription. (biomedcentral.com)
  • The (X;18)(p11;q11) translocation fuses the SYT gene from chromosome 18 to a homologous gene at Xp11 ( SSX1 , SSX2 , or SSX4 ). (medscape.com)
  • Subsequent differentiation allows for rear- analysis of a set of mouse B lineage cell lines rep- rangements of the Ig light-chain (IgL) genes that replace the resenting defined stages of B cell development us- surrogate light-chain genes on the surface of the B cell [8]. (lu.se)
  • the gene expression profile during B lymphoid differentiation. (lu.se)
  • If the role of KMTs is to mediate forces between chromosomes and spindle poles, they need to somehow connect to the centrosomes. (nature.com)
  • G9a-dependent H3K9 methylations (G9a) have been shown to mediate epigenetic silencing of several tumours suppressor genes including DSC3, MASPIN, and CDH1. (omicsonline.org)
  • In toto , our results show that the connection between centrosomes and chromosomes is mediated by an anchoring into the entire spindle network and that any direct connections through KMTs are few and likely very transient. (nature.com)
  • Remarkably, despite the high turnover of microtubules throughout mitosis 2 , the spindle maintains its bipolar structure with the chromosomes at its center and two poles that are separated by the plane of cell division. (nature.com)
  • The aim of the present study was to determine the significance of this tumor suppressor gene for ovarian tumorigenesis, investigating both numerical aberrations of chromosome 9 and p16 gene alterations in 28 cases of ovarian tumors, by the fluorescence in situ hybridization (FISH) technique. (iiarjournals.org)
  • The gene ontology and pathway enrichment of DEGs were performed by DAVID and Kyoto Encyclopedia of Genes and Genomes online analyses, respectively. (hindawi.com)
  • Alleles are forms of the same gene with small differences in their sequence of DNA bases. (medlineplus.gov)
  • Orthologous to several human genes including CCNB1 (cyclin B1). (nih.gov)
  • CoNS serve as a reservoir of accessory genes, including virulence and antimicrobial resistance factors for the genus Staphylococcus. (muni.cz)
  • It is inherited in an autosomal recessive pattern (two copies of an abnormal gene must be present for the syndrome to develop). (dermnetnz.org)
  • Its chromosomal location is within a region of chromosome 21 which has been suggested to play a role in learning deficits associated with Down syndrome. (thermofisher.com)
  • TTC expansion mutation is to reduce expression of frataxin at the level of transcription ( 3 ), through the formation of heterochromatin and subsequent gene silencing ( 4 - 8 ). (frontiersin.org)
  • Loss of function of the p16 gene has been reported to occur mainly by homozygous deletion, mutation or aberrant DNA methylation of the promoter of the region ( 5 - 8 ). (iiarjournals.org)
  • Taking into account specific alpha-helical propensities of Val and Met, this mutation is likely to destabilise the alpha helix of the zinc finger that forms the contact with the DNA duplex, thus affecting the biological function as shown by reporter-gene assays. (bmj.com)
  • Furthermore, this case highlights the importance of searching for a recessive mutation on the non-deleted chromosome in patients with a microdeletion and atypical clinical findings. (bmj.com)
  • The principal mutation accounting for type 1 HFE hemochromatosis is a substitution of tyrosine for cysteine at position 282 on chromosome 6, resulting in a mutation designated as C282Y. (medscape.com)
  • [ 3 ] The other common HFE mutation is H63D, which has an approximate gene prevalence of 20% in European populations. (medscape.com)
  • Although the translocation partners don't share any obvious similarities, they all create potent leukemia-causing hybrid genes. (stowers.org)
  • Temperature-Induced uncoupling of cell cycle regulators. (nih.gov)
  • In the case of chromosomal origin, microtubules instead nucleate around chromosomes and only later attach to kinetochores, as observed in Xenopus cell-free extracts 13 . (nature.com)
  • As a result, it negatively regulates cyclin-D-dependent phosphorylation of the retinoblastoma (pRb) gene product, thus blocking cell-cycle progression from G 1 -to S-phase ( 2 - 4 ). (iiarjournals.org)
  • A process known as gene expression underlies the behavior of every cell in all living organisms. (technologynetworks.com)
  • Chromosome translocations involving the TAL-1 gene are associated with T-CELL ACUTE LYMPHOCYTIC LEUKEMIA. (bvsalud.org)
  • Inoculation with a high dose strains of LMP1 transgenic mice vide a powerful tool in mechanistic of EBV caused a B-cell lymphopro- were established that express LMP1 studies on the role of individual viral liferative disorder in these mice, under the control of the immunoglob- genes in cancer. (who.int)
  • They compared these to previously identified regions on the chromosomes that correlate with disease resistance -- QTLs -- and found that there was a correlation between many the resistance genes' QTL locations. (phys.org)
  • In budding yeast, single continuous KMTs span the full pole-to-chromosome distance 6 . (nature.com)
  • Transcriptome mapping, a method to combine microarray analysis with QTL mapping, was used to evaluate gene expression endo-phenotypes within a QTL mapping population of M16/ICR F2 mice. (usda.gov)
  • Gene expression endo-phenotypes were analyzed in QTL Express with multiple normalization methods. (usda.gov)
  • We will combine our mRNAs expression profile (6 TAD tissues versus 6 non-TAD tissues) and GSE52093 downloaded from the Gene Expression Omnibus (GEO) database. (hindawi.com)
  • Diagnosis is by sweat test or identification of 2 cystic fibrosis-causing gene variants in patients with a positive newborn screening test result or characteristic clinical features. (msdmanuals.com)
  • Finally, we examine the conservation of 135 USA300 TFs amongst 11 other S. aureus strains, identifying a key group of regulators that display a high degree of conservation, including many that have previously been demonstrated to play a role in virulence gene regulation. (biomedcentral.com)
  • If expression of a trait requires only one copy of a gene (one allele). (msdmanuals.com)
  • The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. (novusbio.com)
  • The RSC and related complexes are crucial regulators of chromosome structure and gene expression. (technologynetworks.com)
  • Given the high number of virulence factors present in these bacteria, and the niche-specific role many of them play during different stages of the infectious process, gene expression must be finely tuned in order to efficiently coordinate their expression, and also continue to preserve energy pools. (biomedcentral.com)
  • But it is to say that many, many diseases - not all - but many, many diseases are acutely dependent on the intersection between genes and the environment. (wkar.org)
  • The team's work identified a variety of gene families that may have future impact on improving cacao trees and fruit either by enhancing their attributes or providing protection from fungal diseases and insects that effect cacao trees. (phys.org)
  • Many inherited diseases can be traced to variants in a single gene. (genome.gov)
  • They are also called "polygenic" diseases - with "poly" meaning many and "genic" involving genes. (genome.gov)
  • Simultaneous work in the field of developmental biology and work with Drosophila has established the INT1 gene is a homologue of the Drosophila segment polarity gene [2]. (chemdiv.com)
  • Human ortholog(s) of this gene implicated in breast cancer and prostate cancer. (nih.gov)
  • While we may someday know all the genes involved, researchers can estimate risk now without this link. (genome.gov)
  • An assembly of transcription elongation factors known as Super Elongation Complex, or SEC for short, helps paused RNA polymerases to come online and start transcribing the gene ahead, found researchers at the Stowers Institute for Medical Research. (stowers.org)
  • Our findings as well as observations in Plzf -deficient mice indicate that PLZF is a key regulator of skeletal and male germline development. (bmj.com)
  • C chromosome mec (SCC mec ) elements, accessory gene reg- ommunity-associated methicillin-resistant Staphylo- ulator group, and the PVL gene ( 10,11 ). (cdc.gov)
  • A pseudogene of XBP1 has been identified and localized to chromosome 5. (cancerindex.org)
  • Other genes were found that influence the production of flavonoids, natural antioxidants and terpenoids, hormones, pigments and aromas. (phys.org)
  • Proviral infection at the "site of the highest degree" was thought to be the mechanism of carcinogenesis, giving the first name to the gene found along this pathway as INT1. (chemdiv.com)
  • NtbZIP s were unevenly distributed across twenty-two tobacco chromosomes, and we found sixteen pairs of segmental duplication. (biomedcentral.com)