• This observation narrows the minimal region of deletion in WS and suggests that the syntaxin 1A and frizzled genes are not responsible for the major features of this developmental disorder and provides important insight into understanding the genotype-phenotype correlation in WS. (elsevier.com)
  • Further experiments confirmed that the expression of ATDC triggers beta-catenin, a cell-signaling protein that, upon receiving the right trigger, activates genes that include SOX9-a gene that has been linked to the development of ductal stem cells and to the aggressive growth seen in PDA. (genengnews.com)
  • European researchers have discovered how a gene that has previously been implicated in cancer plays a key role in certain regions of the brain in the control of cocaine addiction in mice. (genengnews.com)
  • The ULB researchers and collaborators in Belgium, Italy, France, and Spain describe their findings in a paper titled, " Deletion of Maged1 in mice abolishes locomotor and reinforcing effects of cocaine . (genengnews.com)
  • neither mice with Maged1 deletion in PFC, nor those with deletion in amygdala showed any significant alteration in the ability to self-administer cocaine," the team writes. (genengnews.com)
  • New research finds that the deletion of the ataxia-telangiectasia group D-complementing (Atdc) gene, whose human homolog is up-regulated in the majority of pancreatic cancer cases, completely prevents the development of tumors in mice. (genengnews.com)
  • We found that deleting the ATDC gene in pancreatic cells resulted in one of the most profound blocks of tumor formation ever observed in a well-known mice model engineered to develop pancreatic ductal adenocarcinoma, or PDA, which faithfully mimics the human disease," says Diane Simeone, MD, director of the Pancreatic Cancer Center of NYU Langone Health's Perlmutter Cancer Center. (genengnews.com)
  • Specifically, mutant KRAS and other genetic abnormalities induced aggressive pancreatic cancer in 100% of study mice when the ATDC gene was present, but in none of the same cancer-prone mice lacking the gene, suggesting that mice lacking ATDC are protected from developing PDA. (genengnews.com)
  • Scientists working with mice have found that by removing a single gene they can turn normally cautious animals into daring ones, mice that are more willing to explore unknown territory and less intimidated by sights and sounds that they have learned can be dangerous. (biopsychiatry.com)
  • Using genetic engineering, the scientists removed the gene from mice and bred a line of the animals, all missing the same gene. (biopsychiatry.com)
  • To be sure that it was the gene change and not some other quality that explained the differences, the researchers tested hearing and pain sensitivity in the altered mice. (biopsychiatry.com)
  • In the current study, the researchers deleted the leucine zipper-bearing kinase ( LZK ) gene in astrocytes of one group of injured mice, which decreased the cells' injury response and resulted in a larger wound on the spinal cord. (genengnews.com)
  • Conversely, the scientists overexpressed the gene in other injured mice, which stimulated the cells' injury response and resulted in a smaller scar. (genengnews.com)
  • Overexpressing the gene in uninjured mice also activated the astrocytes, confirming LZK as a trigger for astrogliosis. (genengnews.com)
  • Inducible LZK gene deletion in astrocytes of adult mice reduced astrogliosis and impaired glial scar formation, resulting in increased lesion size after spinal cord injury. (genengnews.com)
  • By targeting the mouse orthologs of genes frequently deleted on human 8p22 and adjacent regions, which are lost in approximately half of several other major epithelial cancers, we provide evidence suggesting that multiple genes on chromosome 8p can cooperatively inhibit tumorigenesis in mice, and that their cosuppression can synergistically promote tumor growth. (pnas.org)
  • To explore the role of interleukin-2 (IL-2) in T cell proliferation, and to circumvent the IL-2 deficiency autoimmune syndrome of conventional il2 gene deletion, mice were created to allow conditional il2 gene deletion when treated with the estrogen analog, tamoxifen (TAM) as adults. (frontiersin.org)
  • Immunoglobulin gene rearrangement in B cell deficient mice generated by targeted deletion of the JH locus. (nih.gov)
  • To determine the role of the Ig heavy chain protein in B cell development and L chain gene rearrangement, we have generated mice that cannot assemble Ig H chain genes as a result of targeted deletion of the JH gene segments in embryonic stem cells. (nih.gov)
  • Mice homozygous for this deletion are devoid of slg+ B cells in the bone marrow and periphery. (nih.gov)
  • Homer2 gene deletion in mice produces a phenotype similar to chronic cocaine treated rats. (nih.gov)
  • In this report we summarize the behavioral and neurochemical effects of Homer2 gene deletion in mice and compare this with the effects of chronic cocaine treatment in rats. (nih.gov)
  • Homer2 deletion also caused mice to show reduced basal extracellular glutamate in the nucleus accumbens and a sensitized increase in extracellular glutamate in response to a cocaine injection. (nih.gov)
  • Viable mice homozygous for the deletions were generated and were indistinguishable from wild-type littermates with regard to morphology, reproductive fitness, growth, longevity and a variety of parameters assaying general homeostasis. (nih.gov)
  • Further detailed analysis of the expression of multiple genes bracketing the deletions revealed only minor expression differences in homozygous deletion and wild-type mice. (nih.gov)
  • The absence of this single gene, called p21 , confers a healing potential in mice long thought to have been lost through evolution and reserved for creatures like flatworms, sponges, and some species of salamander. (fightaging.org)
  • The determination of a single gene of interest in this matter will lead researchers to investigate a narrow range of potential underlying mechanisms in order to explain why the MRL mice heal as they do. (fightaging.org)
  • These knockout mice demonstrated a reduction in end-diastolic and end-systolic volume by echocardiography, activation of the fetal gene program (ie, increased atrial natriuretic peptide and alpha skeletal actin gene expression), and increased expression of modulatory calcineurin inhibitory protein 1 (MCIP1), a direct downstream target of calcineurin/nuclear factor of activated T cell signaling. (ahajournals.org)
  • The pheno-types of Brn-3a, Brn-3b, and Brn-3c mutant mice indicate that individual Brn-3 genes have evolved to control development in the auditory, visual, or somatosensory systems and that despite differences between these systems in transduction mechanisms, sensory organ structures, and central information processing, there may be fundamental homologies in the genetic regulatory events that control their development. (pnas.org)
  • Livers from newborn mice homozygous for either one of the lethal deletions c14CoS or c3H in chromosome 7 have drastically reduced levels of cytosolic phosphoenolpyruvate carboxykinase (GTP) [GTP:oxaloacetate carboxy-lyase (transphosphorylating), EC 4.1.1.activity when compared with normal littermates. (pnas.org)
  • Studies of the transcription rate of the gene showed that it was reduced to 25-50% of normal in hepatic nuclei obtained from mice homozygous for either deletion. (pnas.org)
  • For their study, the investigators deleted the CHD1 gene in mice, which led to the growth of prostate cancer tumors. (healthcanal.com)
  • Deletion of liver-specific STAT5 gene alters the expression of bile acid metabolism genes and reduces liver damage in lithogenic diet-fed mice. (nih.gov)
  • STAT5 LKO mice showed significant down-regulation of STAT5 and insulin-like growth factor-1 genes. (nih.gov)
  • STAT5 gene deletion had a minor effect on cholesterol metabolism, as evidenced by a minor change in circulating cholesterol levels and no changes in expression of hepatic low-density lipoprotein receptor and cholesterol synthesis genes in STAT5 LKO mice. (nih.gov)
  • In contrast, bile acid synthesis and uptake genes were profoundly down-regulated and bile acid detoxification genes were up-regulated in STAT5 LKO mice. (nih.gov)
  • To address objective 3, mice will be exposed by intragastric gavage to the high allergenic and low allergenic proteins, and mRNA from spleen, mesenteric lymph node and intestine will be collected for gene expression profiling using microarrays. (epa.gov)
  • Comparison of gene expression between highly allergenic protein-treated and low allergenic protein-treated mice should identify changes in gene expression that are specific for responses to food allergens. (epa.gov)
  • The proposed mouse model uses oral exposure without adjuvants and requires a relatively easy, short exposure protocol as a result of the availability of sensitive biomarkers for rapid detection of gene-expression changes in the exposed mice. (epa.gov)
  • Crtc1(-/-) mice strikingly show, in addition to a reduced dopamine and serotonin turnover in the prefrontal cortex, a concomitant decreased expression of several susceptibility genes involved in neuroplasticity, including Bdnf, its receptor TrkB, the nuclear receptors Nr4a1-3, and several other CREB-regulated genes. (nih.gov)
  • Rapgef6 deletion mice were most impaired in hippocampal and amygdalar function, brain regions implicated in schizophrenia pathophysiology. (harvard.edu)
  • We addressed this issue in mice carrying a deletion of the gene encoding MyD88, the key intracellular adaptor molecule in Toll-like and interleukin-1 family receptor signaling. (diva-portal.org)
  • Our data suggest that Ach-induced relaxation in Ephx2 − / − mice depends on NO and CYP-epoxygenases but not on A 2A AR, and Ephx2 -gene deletion attenuates less Ach-induced relaxation in Ang-II-infused mice. (springer.com)
  • In adult mice, IL-1α deletion is accompanied by increased oligodendrocyte survival after SCI. (wingsforlife.com)
  • The MAPK1 gene in mice has been shown to contribute to social behavior and therefore may play a role in the behavioral problems found in some people with 22q11.2 distal deletion syndrome. (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)
  • Nude mice have a spontaneous deletion in the FOXN1 gene. (wikipedia.org)
  • citation needed] Mice with a targeted deletion in the FOXN1 ("knockout" mice) also show the "nude" phenotype. (wikipedia.org)
  • Mice with genes knocked out (knockout mouse) were created in 1989. (wikipedia.org)
  • Deletion of the gene for KDM1A can have effects on the growth and differentiation of embryonic stem cells and can lead to embryonic lethality in knockout mice, who do not produce the KDM1A gene product. (wikipedia.org)
  • Deletion of this gene leads to maternal effect lethality in mice. (wikipedia.org)
  • Consistent with the regulation of synaptic Ca2+ responsiveness, heterozygous deletion of the SNAP-25 gene in mice results in a hyperactive phenotype similar to attention deficit hyperactivity disorder (ADHD). (wikipedia.org)
  • Mice with a target deletion of the GPR55 gene show no specific phenotype. (wikipedia.org)
  • Studies in mice suggest that the protein encoded by this gene may suppress growth in postmitotic neurons. (wikipedia.org)
  • For example, deletion of a gene by gene targeting (gene knockout) can be done in some organisms, such as yeast, mice and moss. (wikipedia.org)
  • Tumor protein p53, also known as p53, cellular tumor antigen p53 (UniProt name), phosphoprotein p53, tumor suppressor p53, antigen NY-CO-13, or transformation-related protein 53 (TRP53), is any isoform of a protein encoded by homologous genes in various organisms, such as TP53 (humans) and Trp53 (mice). (wikipedia.org)
  • The robust performance of the yeast gene-deletion dual oligonucleotide bar-code design in array hybridization validates the use of molecular bar codes in living cells for tracking their growth phenotype. (pnas.org)
  • All the genes forming these fusion transcripts may have an important role in central nervous system development and/or in gene expression regulation, and therefore not only their deletion or duplication but also the resulting chimeric gene may contribute to the phenotype of the patients. (hindawi.com)
  • The observed phenotype then may be a consequence of the CNV itself, but the chimeric gene might contribute and modify it, as in those cases with a wide spectrum phenotype associated to similar CNVs with different breakpoints. (hindawi.com)
  • All the genes forming the fusion transcript might have an important role in the central nervous system (CNS) development and/or in gene expression regulation and therefore may contribute to the phenotype of both patients. (hindawi.com)
  • We now propose to conduct a comprehensive clinical phenotype-genotype study on patients with WAGR syndrome and other 11p deletions. (clinicaltrials.gov)
  • Further phenotype comparisons between cases with ring 6 and cases with only 6p or 6q terminal deletions suggest that genes important for hearing, vision, and central nervous system development remain to be identified in chromosome 6 terminal regions. (nih.gov)
  • EpCAM staining was negative in the whole cohort1, suggesting a defective EPCAM gene in the milder phenotype. (edu.mt)
  • Thus, a constitutional deletion of the NF1 gene is responsible for the disease phenotype in at least 4.4% of the 500 unselected NF1 patients. (nih.gov)
  • To investigate the contribution of loss of SERCA to the cardiac phenotype, we used a new genetically modified mouse which allows conditional cardiomyocyte-specific excision of the Serca2 gene. (ahajournals.org)
  • The phenotype was shown to be associated with a deletion of exons 6-8 of the X-linked NSDHL gene, confirming that CHILD syndrome is due to loss of function of an enzyme involved in cholesterol biosynthesis. (karger.com)
  • A 10 bp deletion in canine NDRG1 exon 15 (c.1080_1089delTCGCCTGGAC) was perfectly associated with the polyneuropathy phenotype of Greyhound show dogs. (uni-muenchen.de)
  • Three other patients with interstitial deletions involving 14q22-23 have been described, all with bilateral anophthalmia, pituitary abnormalities, ear anomalies, and a facial phenotype similar to our patient. (ovid.com)
  • OTX2 is involved in ocular developmental defects, and the severity of the ocular phenotype in our patient and the other 14q22-23 deletion patients, suggests this genomic region harbors other gene/s involved in ocular development. (ovid.com)
  • Any abnormal genetic variation in the q13 region that presents with significant manifestations (phenotype) typical of a terminal deletion may be diagnosed as 22q13 deletion syndrome. (wikipedia.org)
  • There are too few clinical cases to statistically measure the relationship between deletion size and phenotype in this region. (wikipedia.org)
  • This was identified by two individuals that exhibited all 4 components of the core WHS phenotype, which allowed scientists to trace the loci of the deleted genes. (wikipedia.org)
  • There is wide evidence that the WHS core phenotype (growth delay, intellectual disability, seizures, and distinctive craniofacial features) is due to haploinsufficiency of several closely linked genes as opposed to a single gene. (wikipedia.org)
  • Its deletion likely contributes to the WHS phenotype. (wikipedia.org)
  • However, variation in severity and phenotype of WHS suggests possible roles for genes that lie proximally and distally to the WHSCR. (wikipedia.org)
  • FGFRL1, encoding a putative fibroblast growth factor decoy receptor, has been implicated in the craniofacial phenotype and potentially other skeletal features, and short stature of WHS CPLX1 has lately been suggested as a potential candidate gene for epilepsy in WHS Prader-WIlli (PWS) and Angelman syndrome (AS) are distinct neurogenetic disorders caused by chromosomal deletions, uniparental disomy or loss of the imprinted gene expression in the 15q11-q13 region. (wikipedia.org)
  • This aggravated phenotype arises when genes in compensatory pathways are both knocked out. (wikipedia.org)
  • A double mutant in which both of these genes have been disrupted exhibits an equivalent phenotype that is no worse than either single mutant. (wikipedia.org)
  • This aggravated phenotype is indicative of two genes in compensatory pathways. (wikipedia.org)
  • For example, genes can act in opposite directions in pathways, so that knocking out both produces a near-normal phenotype, while each single mutant is severely affected (in opposite directions). (wikipedia.org)
  • The enhancers increase transcription of the PITX1 gene and cause patients to develop the same phenotype described above. (wikipedia.org)
  • RNAi interference, specifically gene silencing, has become a useful tool to silence the expression of genes and identify and analyze their loss-of-function phenotype. (wikipedia.org)
  • The ability to analyze the loss-of-function phenotype allows analysis of gene function when there is no access to mutant alleles. (wikipedia.org)
  • The resulting phenotype may reflect the normal function of the gene. (wikipedia.org)
  • The Mage family of genes was first identified as tumor suppressors, but some, including Maged1, are active in healthy cells and tissues, including the developing and adult central nervous system. (genengnews.com)
  • They then tested all 5,000 of the original single-gene knockout strains to find sub-strains that could overgrow when given low-nutrient food - a trait that tumor cells often possess. (scienceblog.com)
  • The large chromosomal deletions frequently observed in cancer genomes are often thought to arise as a "two-hit" mechanism in the process of tumor-suppressor gene (TSG) inactivation. (pnas.org)
  • Early studies on the tumor-suppressor genes (TSGs) RB and TP53 suggested that such deletions can arise as a single mechanism for loss of heterozygosity and, consequently, it is often assumed that they provide a "second-hit" event to inactivate a single TSG ( 1 ). (pnas.org)
  • Prostate-specific deletion of the murine Pten tumor suppressor gene leads to metastatic prostate cancer. (nih.gov)
  • Retinoblastoma is a non-hereditary as well as an inherited pediatric tumor of the developing retina resulting from the inactivation of both copies of the RB1 tumor suppressor gene. (sigmaaldrich.com)
  • However, large and complete germline RB1 deletions are associated with low or no tumor risk for reasons that remain unknown. (sigmaaldrich.com)
  • Scientists knew that the gene, called chromodomain helicase DNA binding protein 1 or CHD1, was often deleted in prostate cancer cells, just like tumor-suppressor genes often are, said senior study author Dr. Christopher Barbieri , an associate professor of urology at Weill Cornell Medicine. (healthcanal.com)
  • Deletions at 13q14 also occur in ≈50% of mantle cell lymphoma, in 16-40% of multiple myeloma, and in 60% of prostate cancers ( 3 ), suggesting that one or more tumor suppressor genes at 13q14 are involved in the pathogenesis of these human tumors. (pnas.org)
  • Very little is known about the magnitude of the risk for malignancy associated with distal 22q11.2 deletion syndrome but it is advised that people with a deletion that includes the SMARCB1 gene undergo careful, prolonged monitoring for this type of tumor. (wikipedia.org)
  • This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. (wikipedia.org)
  • It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. (wikipedia.org)
  • However, quite many genes are known to be methylated in tumor cell genomes, and the majority of these genes are not expressed in the normal tissue of origin of these cancers. (wikipedia.org)
  • Deletion of this gene provides the property of tumor-selective replication to the virus (i.e. largely prevents replication in normal cells, while still allowing replication in tumor cells), although it also reduces replication in tumor cells as compared to wild type HSV. (wikipedia.org)
  • Like other oncolytic versions of HSV it has a deletion of the gene encoding ICP34.5, which provides tumor selectivity. (wikipedia.org)
  • The ratio of auxin to cytokinin produced by the tumor genes determines the morphology of the tumor (root-like, disorganized or shoot-like). (wikipedia.org)
  • which occur frequently in solid tumors, and can contribute to tumor evolution through altered gene expression. (wikipedia.org)
  • Gene deletion is the opposite of gene amplification, where a region of a chromosome is lost an drug resistance occurs by losing tumor suppressor genes such as TP53. (wikipedia.org)
  • In cancer cells, where normal regulation of gene expression breaks down, the oncogenes are activated via hypomethylation and tumor suppressors are silenced via hypermethylation. (wikipedia.org)
  • In addition, the gene encoding CD117 is frequently overexpressed and amplified in this tumor type, most commonly occurring as a single gene amplicon. (wikipedia.org)
  • The deletion of this gene has been reported associated with Wilms tumor. (wikipedia.org)
  • Duplicated segments of the LMO1 gene within neuroblastoma tumor cells have been shown to increase the risk of developing an aggressive form of the cancer. (wikipedia.org)
  • This gene is frequently mutated or deleted in a wide variety of tumors and is known to be an important tumor suppressor gene. (wikipedia.org)
  • Hypermethylation of tumor suppressor genes has been implicated in various cancers. (wikipedia.org)
  • Namely, cyclin D-Cdk4/6 complex partially phosphorylates retinoblastoma tumor suppressor protein (Rb), whose inhibition can induce expression of some genes (for example: cyclin E) important for S phase progression. (wikipedia.org)
  • The first tumor suppressor gene validating this hypothesis was that encoding p53. (wikipedia.org)
  • But there was no evidence that p53 played a major role in human cancers, and the gene encoding p53 (TP53) was thought to be an oncogene rather than a tumor suppressor gene. (wikipedia.org)
  • In 1991, Vogelstein and long-time colleague Kenneth W. Kinzler, working with Yusuke Nakamura in Japan, discovered another tumor suppressor gene. (wikipedia.org)
  • Hence TP53 is classified as a tumor suppressor gene. (wikipedia.org)
  • These primers begin at the 5′-end with 18 (or 17) bp of genomic sequence, followed by a bar code comprised of 18 bp of sequence (U1 or D1) common to all deletion constructs, a unique 20-mer tag, and 18 (or 19) bp of sequence (U2 or D2) homologous to the KanMX gene. (pnas.org)
  • Using gene-specific primers to explore the genomic organization of these two genes, it was determined that UGT2B17 is absent in some human DNA samples. (nih.gov)
  • However, genomic approaches have not conclusively identified a definitive TSG within some cancer-associated deletions, raising the possibility that they occur through genomic instability or selection for the reduced activity of multiple genes. (pnas.org)
  • Chromosome 8p deletion characteristics and co-occurring genomic aberrations. (pnas.org)
  • Genomic alteration of the PTEN gene in SD07. (wiley.com)
  • We established a physical as well as a gene map of the Ft locus, showing that the transgene integration resulted in a deletion of 1.6 Mb of genomic sequences on mouse Chromosome 8. (nih.gov)
  • Genes and Disease Programme, Centre for Genomic Regulation (CRG) and Public Health and Epidemiology Network Biomedical Research Center (CIBERESP), 08003 Barcelona, Spain. (nih.gov)
  • AαΔ) strain by replacing the genomic Y1 gene with URA1 in an Aα1 strain. (genetics.org)
  • Translocation breakpoint analysis using FISH and high-resolution microarray comparative genomic hybridization (CGH) has identified a 9.66 Mb deleted region on the long arm of chromosome 14 which includes the genes BMP4, OTX2, RTN1, SIX6, SIX1, and SIX4. (ovid.com)
  • Array-based comparative genomic hybridization (aCGH) tracks chromosome deletions and or amplifications using fluorescent dyes on genomic sequences of DNA samples. (wikipedia.org)
  • MLPA, however, is one of the only accurate, time-efficient techniques to detect genomic deletions and insertions (one or more entire exons), which are frequent causes of cancers such as hereditary non-polyposis colorectal cancer (HNPCC), breast, and ovarian cancer. (wikipedia.org)
  • Transcription factor genes playing a role in the development of hypothalamus and pituitary are pituitary transcription factor 1 (PIT1), Prophet of Pit-1 (PROP1), LIM Homeobox 3 (LHX3), LIM Homeobox 4 (LHX4), and HESX Homeobox 1 (HESX1) which all are known to be important for organ commitment and embryonic pituitary cell differentiation. (hindawi.com)
  • The 11 genes of these regions are shown with their transcription orientation. (nih.gov)
  • We suggest that, in addition to the reduction in the level of transcription, the deletions in chromosome 7 may also cause alterations in messenger stability, processing, or transport from the nucleus. (pnas.org)
  • The function of CHD1 is to move the nucleosomes around on this string, making the DNA more or less accessible to molecules that are involved in turning genes on or off, called transcription factors. (healthcanal.com)
  • In the study, Dr. Barbieri and his research team discovered that when CHD1 is present in prostate cells, it works with a transcription factor called the androgen receptor (AR), to turn on genes that are critical for normal functions of prostate tissue. (healthcanal.com)
  • In contrast, hepatic STAT5 signaling has significant roles in regulating transcription of genes for synthesis, transport and detoxification of bile acids, but it has only a minor role in bile acid metabolism. (nih.gov)
  • Deletion of CREB-regulated transcription coactivator 1 induces pathological aggression, depression-related behaviors, and neuroplasticity genes dys. (nih.gov)
  • Seventy percent of transfected cells showed a slow DNA deletion as measured by PCR, and loss of Br-cAMP stimulated transcription. (frontiersin.org)
  • SIX3 is a transcription factor that binds to specific DNA sequences, controlling whether the gene is active or inactive. (wikipedia.org)
  • DNA methylation is the process of adding methyl groups to DNA, usually in the upstream promoter regions, which stops DNA transcription at the region and effectively silences individual genes. (wikipedia.org)
  • Once in the nucleus, E2F1 promotes the transcription of target genes that are essential for transition from G1 to S phase. (wikipedia.org)
  • One of the members of the pathways, MAPK activates a transcription factor Myc, which alters transcription of genes important in cell cycle, among which is cyclin D. In this way, cyclin D is synthesized as long as the growth factor is present. (wikipedia.org)
  • In its un-phosphorylated form, Rb binds a member of E2F family of transcription factors which controls expression of several genes involved in cell cycle progression (example, cyclin E). Rb acts as a repressor, so in complex with E2F it prevents expression of E2F-regulated genes, and this inhibits cells from progressing through G1. (wikipedia.org)
  • Active cyclin D/Cdk4 and -6 inhibit Rb by partial phosphorylation, reducing its binding to E2F and thereby allowing E2F-mediated activation of the transcription of the cyclin E gene and the cell progresses towards S-phase. (wikipedia.org)
  • The MAP kinase ERK activates the downstream transcription factors Myc, AP-1 and Fos which in turn activate the transcription of the Cdk4, Cdk6 and cyclin D genes, and increase ribosome biogenesis. (wikipedia.org)
  • MECP2: methyl CpG binding protein 2 is a transcription regulator, which represses transcription from methylated gene promoters. (wikipedia.org)
  • Finally, the deletion cassette was integrated into the yeast chromosome by homologous recombination. (pnas.org)
  • We quantified the growth behaviour of all available single-gene deletion and overexpression strains of budding yeast. (nih.gov)
  • The genes and functional categories identified in the analysis might provide useful information on designing industrially useful yeast strains. (nih.gov)
  • The beauty of working with yeast, Hardwick says, is that it is easy to delete, or "knock out," any given gene. (scienceblog.com)
  • At their preferred temperature, each of these strains of yeast grows robustly even though they each have a different gene missing. (scienceblog.com)
  • This method is based on driving yeast strains through repeated cycles of sexual assortment of deletions and fluorescence-based enrichment of cells carrying more deletions. (jove.com)
  • In Schizosaccharomyces pombe (fission yeast) 4,836 heterozygous deletions covering 98.4% of the 4,914 protein coding open reading frames have been constructed. (wikipedia.org)
  • Studies in which the Maged1 gene was deleted in specific regions of the brain indicated that the development of cocaine sensitization required Maged1 expression in the prefrontal cortex (PFC) and amygdala regions of the brain specifically. (genengnews.com)
  • ATDC gene expression increased a few days later after exposure, in line with the timeframe required for acinar cells to reprogram genetically into their ductal cell forebears. (genengnews.com)
  • A multicopy plasmid bearing the ldhL gene without modification of its expression signals was introduced in L. plantarum. (asm.org)
  • B lymphocyte differentiation is characterized by an ordered series of Ig gene assembly and expression events. (nih.gov)
  • In the majority of normal B cells, assembly and expression of Ig heavy (H) chain genes precedes that of light (L) chain genes. (nih.gov)
  • These data demonstrate that rearrangement and expression of the mu H chain gene is not absolutely required for kappa L chain gene rearrangement in vivo. (nih.gov)
  • Expression of mu chains may facilitate either efficient L chain gene rearrangement or the survival of cells that have rearranged light chain genes by promoting the differentiation of large, CD43+ to small, CD43- pre-B cells. (nih.gov)
  • SD07 is the first case in which it is proven that the loss of CD20 expression in relapsed DLBCL is the result of deletion of the CD20 gene. (wiley.com)
  • In particular their use has greatly facilitated fine-structure mapping of the prn cluster and aided studies of the regulation of prn gene expression. (cambridge.org)
  • Consistently, the 16 bp indel also had a significant effect on KDM6A gene expression. (frontiersin.org)
  • Microevolution of Duplications and Deletions and Their Impact on Gene Expression in the Nematode Pristionchus pacificus. (nih.gov)
  • We found that while loss of genes correlates with lack of expression, duplication of genes has virtually no effect on gene expression. (nih.gov)
  • Expression levels (relative to the endogenous gene RPLP0) of LCE3E and LCE3C are represented by left and right Y-axis values respectively. (nih.gov)
  • Gene expression profiling was performed using a Taqman Gene Expression Assay (Cat#4331182, SEC16A-Hs00389570_m1, GAPDH-Hs99999905_M1) and protein expression was assessed using Western analysis using a commercial SEC16A antibody. (bmj.com)
  • The in-frame deletion had no significant impact on gene or protein expression. (bmj.com)
  • Although this in-frame deletion had no significant impact on gene or protein expression, a detrimental impact on protein structure of SEC16A remains a possibility and is currently under investigation. (bmj.com)
  • Using transgenic experiments we show that deletion of the conserved 3′ UTR element increases adult and larval Adh expression in both the ADH-F and ADH-S genetic backgrounds. (genetics.org)
  • The goal of the research is to develop an improved animal model to test for food allergies and to identify changes in gene expression that can serve as early biomarkers for the detection of food allergy. (epa.gov)
  • Detailed deletion and expression analysis shows that miR15 and miR16 are located within a 30-kb region of loss in CLL, and that both genes are deleted or down-regulated in the majority (≈68%) of CLL cases. (pnas.org)
  • However, expression analysis implicates additional 22q11 genes that are selectively expressed in cortical precursors. (pnas.org)
  • The ul54 gene of PRV and its homolog icp27 of herpes simplex virus have a multitude of functions, including the regulation of viral DNA synthesis and the control of the gene expression. (springer.com)
  • We further show that these deletions, and a SNP that affects HP expression, appear to drive the strong association of cholesterol levels with SNPs near HP. (broadinstitute.org)
  • Complementation analysis and regulation of CO2 fixation gene expression in a ribulose 1,5-bisphosphate carboxylase-oxygenase deletion strain of Rhodospirillum rubrum. (asm.org)
  • A method is presented for the construction of a deletion mutant lacking the micF gene, which has been proposed to negatively regulate expression of the ompF gene. (asm.org)
  • ompF expression in the micF deletion mutant thus constructed was normally regulated and was not enhanced. (asm.org)
  • When micF was cloned into a high-copy-number plasmid it repressed ompF gene expression, whereas when cloned into a low-copy-number plasmid it did not. (asm.org)
  • From these results, it is concluded that a single copy of the micF gene on the E. coli chromosome does not play a critical role in ompF gene expression. (asm.org)
  • sm-FISH also distinguishes two effects on stimulated StAR expression without this deletion. (frontiersin.org)
  • The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. (wikipedia.org)
  • In melanocytic cells RUNX3 gene expression may be regulated by MITF. (wikipedia.org)
  • KDM1A is also thought to play a role in cancer, as poorer outcomes can be correlated with higher expression of this gene. (wikipedia.org)
  • Expression of the color dilution gene is a disorder called Color Dilution Alopecia. (wikipedia.org)
  • Epigenetic modifications in antineoplastic drug resistance play a major role in cancer development and drug resistance as they contribute to the regulation of gene expression. (wikipedia.org)
  • P. luminescens also produces a proteic toxin through the expression of a single gene called makes caterpillars floppy (mcf). (wikipedia.org)
  • Females have two X chromosomes and males have one X and one Y chromosome .The expression of recessive genes on the X chromosome is different in males and females. (wikipedia.org)
  • Increased expression of the p16 gene as organisms age reduces the proliferation of stem cells. (wikipedia.org)
  • Biomolecular engineering has the potential to become one of the most important scientific disciplines because of its advancements in the analyses of gene expression patterns as well as the purposeful manipulation of many important biomolecules to improve functionality. (wikipedia.org)
  • Deletion and reduced expression of Dock8 have been reported in a human lung cancer cell line and Dock8 was also identified as a putative candidate gene associated with progression of gliomas. (wikipedia.org)
  • The discovery of gene silencing using double stranded RNA, also known as RNA interference (RNAi), and the development of gene knockdown using Morpholino oligos, have made disrupting gene expression an accessible technique for many more investigators. (wikipedia.org)
  • For example, over-expression of a mutant gene may result in high levels of a non-functional protein resulting in a dominant negative interaction with the wildtype protein. (wikipedia.org)
  • Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. (nih.gov)
  • This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohn's disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinson's disease, and a reduced incidence of Plasmodium falciparum malaria. (wikipedia.org)
  • GWAS show that genetic variations of the CPVL gene are associated with susceptibility to diabetic nephropathy in European Americans, Japanese and Chinese. (wikipedia.org)
  • Both genes are associated with susceptibility to leprosy. (wikipedia.org)
  • HIF-1, when stabilized by hypoxic conditions, upregulates several genes to promote survival in low-oxygen conditions. (wikipedia.org)
  • Recent research suggests that genetic vulnerability to schizophrenia is multifactorial, caused by interactions of several genes. (wikipedia.org)
  • Gene nomenclature is the scientific naming of genes, the units of heredity in living organisms. (wikipedia.org)
  • The process of selective breeding, in which organisms with desired traits (and thus with the desired genes) are used to breed the next generation and organisms lacking the trait are not bred, is a precursor to the modern concept of genetic modification. (wikipedia.org)
  • It also carries genes for the biosynthesis of the plant hormones, auxin and cytokinins, and for the biosynthesis of opines, providing a carbon and nitrogen source for the bacteria that most other micro-organisms can't use, giving Agrobacterium a selective advantage. (wikipedia.org)
  • A molecular genetic approach is the creation of transgenic organisms that overexpress a normal gene of interest. (wikipedia.org)
  • Insertions are apparently uncommon in the factor VIII gene, but they usually lead to severe hemophilia A. (medscape.com)
  • Various techniques including DGGE (Denaturing Gradient Gel Electrophoresis), DHPLC (Denaturing High Performance Liquid Chromatography), and SSCA (Single Strand Conformation Analysis) effectively identify SNPs and small insertions and deletions. (wikipedia.org)
  • Chromosome 8p Deletions Are Frequently Large and Co-Occur with 8q Gains and 17p Loss. (pnas.org)
  • Deletion, duplication, and rearrangement occur only in the presence of the integron-encoded DNA integrase. (asm.org)
  • De novo 22q11.2 distal deletions are caused by a mistake that is thought to occur when the parents' sperm or egg cells are formed. (wikipedia.org)
  • Causes include the following: Losses from translocation Chromosomal crossovers within a chromosomal inversion Unequal crossing over Breaking without rejoining For synapsis to occur between a chromosome with a large intercalary deficiency and a normal complete homolog, the unpaired region of the normal homolog must loop out of the linear structure into a deletion or compensation loop. (wikipedia.org)
  • We classified these deleted and overexpressed genes into known functional categories, and identified several functional categories having fragility and robustness for cellular growth. (nih.gov)
  • Chimeric genes can have different possible consequences: when due to a deletion, not only the loss of a fully functional copy of the gene is especially relevant for haploinsufficient genes, but also the gain-of-function of the chimeric gene. (hindawi.com)
  • 5:1941-1959, 1991) and demonstrates that individual gene cassettes are functional units which can be independently mobilized. (asm.org)
  • This "facilitates functional analysis by site-specific gene deletion. (wikipedia.org)
  • For instance, sequencing the genomes of 2,636 Icelandic citizens and the genotyping of 101,584 additional subjects found 8,041 individuals who had 1 gene completely knocked out (i.e. these people were homozygous for a non-functional gene). (wikipedia.org)
  • The zeta-globin gene is a member of the human alpha-globin gene cluster that includes five functional genes and two pseudogenes. (wikipedia.org)
  • In spite of their structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in control of the G1 phase of the cell cycle. (wikipedia.org)
  • We previously generated a genetically attenuated parasite (GAP) by deleting the P52 and P36 genes in the NF54 wild-type (WT) strain of Plasmodium falciparum (Pf p52(-)/p36(-) GAP). (nih.gov)
  • The strain was uracil or thymine dependent and they used some gene recovering this. (biology-online.org)
  • 2 kb) deletions and duplications relative to the reference strain. (nih.gov)
  • A ribulose 1,5-bisphosphate carboxylase-oxygenase (RubisCO) deletion strain of Rhodospirillum rubrum that was incapable of photolithoautotrophic growth was constructed. (asm.org)
  • Photoheterotrophic growth, however, was possible for the R. rubrum RubisCO deletion strain when oxidized carbon compounds such as malate were supplied. (asm.org)
  • The R. rubrum RubisCO-deficient strain was not complemented to photolithoautotrophic growth by various R. rubrum DNA fragments that contain the gene encoding RubisCO, cbbM. (asm.org)
  • When the R. rubrum cbbM deletion strain harbored plasmids containing R. rubrum DNA inserts with at least 2.0 kb preceding the translational start site of the cbbM gene, RubisCO activity and RubisCO antigen were detected. (asm.org)
  • Interestingly, DNA fragments encoding either of two complete Calvin-Benson-Bassham CO2- fixation (cbb) gene operons from Rhodobacter sphaeroides were able to complement the R. rubrum RubisCO deletion strain to photolithoautotrophic growth. (asm.org)
  • The BCSP31 gene replacement plasmids, constructed with ColE1-derived vectors, were introduced by electroporation into B. abortus strain 19 (S19), into a rough variant of B. abortus S19, and into B. abortus S2308, and antibiotic-resistant transformants were isolated. (asm.org)
  • The HSV1716 strain has a deletion of the gene ICP34.5. (wikipedia.org)
  • Using Cre-Lox technology we have selectively deleted the vitamin D receptor (VDR) gene in the cardiac myocyte in an effort to better understand the role of vitamin D in regulating myocyte structure and function. (ahajournals.org)
  • When CHD1 is absent, however, the androgen receptor activates genes that promote cancer. (healthcanal.com)
  • However this is complicated by the fact that another possible CB3 receptor has been discovered in the hippocampus, although its gene has not yet been cloned, suggesting that there may be at least four cannabinoid receptors which will eventually be characterised. (wikipedia.org)
  • PRV has 67 protein-coding genes and several non-coding RNA molecules, which can be classified into three temporal groups, immediate early, early and late classes. (springer.com)
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
  • In familial or sporadic CPHD cases, the most common causes are PIT1 and PROP1 gene defects [ 2 ]. (hindawi.com)
  • The team now is evaluating other patients worldwide with varying forms of JPD, who so far do not appear to have any defects in the osteoprotegerin gene. (innovations-report.com)
  • Earlier work has shown that targeted deletion of the Brn-3b and Brn-3c genes produce, respectively, defects in the retina and in the inner ear. (pnas.org)
  • Intragenic genotyping revealed deletion of the paternal FOXC1 gene, haploinsufficiency of which has been reported to cause eye anterior chamber developmental defects. (nih.gov)
  • To investigate haploinsufficiency of NPM1 in myeloid malignancies with 5q- aberration, we analyzed the NPM1 gene in terms of mutational and methylation status and presence of deletions in 53 patients with MDS or secondary AML (sAML) carrying the 5q- abnormality as a sole chromosomal alteration or associated with additional chromosome defects. (haematologica.org)
  • h) Counting genes with essential domains and those that lead to growth-defects when disrupted as essential, and those who lead to growth-advantage when disrupted as non-essential. (wikipedia.org)
  • The infantile form is referred to as complex GKD because the defect in the gene for the glycerol kinase enzyme is interconnected with defects in one or both of its affected genes that are responsible for Duchenne muscular dystrophy and adrenal hypoplasia congenita. (wikipedia.org)
  • Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. (wikipedia.org)
  • Members of the human UDP-glucuronosyltransferase 2B family are located in a cluster on chromosome 4q13 and code for enzymes whose gene products are responsible for the normal catabolism of steroid hormones. (nih.gov)
  • SHANK3 is also adjacent to a gene cluster (ARSA and MAPK8IP2) that has a high probability of contributing to ASD, suggesting the effects of SHANK3 deletion may be indistinguishable from other genetic losses. (wikipedia.org)
  • Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. (wikipedia.org)
  • The SIX homeobox 3 (SIX3) gene is crucial in embryonic development by providing necessary instructions for the formation of the forebrain and eye development. (wikipedia.org)
  • The FBN-1 gene is involved in a variety of embryonic developmental programs. (wikipedia.org)
  • A new study suggests that detecting this genetic deletion during the initial evaluation of children with neuroblastoma may indicate to physicians that they should recommend a more aggressive regimen of chemotherapy to fight the cancer. (bio-medicine.org)
  • The condition is caused by a genetic deletion (loss of a segment of DNA) on the outermost band on the short arm (p) of chromosome 1. (wikipedia.org)