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  • Mice
  • Quantitative measurement of FSHR mRNA demonstrated that the content of FSHR mRNA is reduced in the ovaries of mice carrying a null mutation of the NGF gene. (biomedsearch.com)
  • In mice, the official symbol of M33 gene styled Cbx2 and the official name chromobox 2 are maintained by the MGI. (wikipedia.org)
  • The expression of Sry and Sox9 genes in gonads of XY Cbx2-knockout mice is reduced, suggesting that Cbx2 is required for the expression of Sry in gonadal development. (wikipedia.org)
  • 1998) indicates that homozygous M33-mutant mice represent the first case in which male-to-female gonadal sex reversal results from a defect in a known recessive gene. (wikipedia.org)
  • humans
  • In humans, the mutations in this gene are also associated with gonadal dysgenesis. (wikipedia.org)
  • Eomesodermin also known as T-box brain protein 2 (Tbr2) is a protein that in humans is encoded by the EOMES gene. (wikipedia.org)
  • Flavin-containing monooxygenase 3 (FMO3), also known as dimethylaniline monooxygenase [N-oxide-forming] 3 and trimethylamine monooxygenase, is a flavoprotein enzyme (EC 1.14.13.148) that in humans is encoded by the FMO3 gene. (wikipedia.org)
  • N-alpha-acetyltransferase 15, NatA auxiliary subunit also known as gastric cancer antigen Ga19 (GA19), NMDA receptor-regulated protein 1 (NARG1), and Tbdn100 is a protein that in humans is encoded by the NAA15 gene. (wikipedia.org)
  • Drosophila
  • The SALL genes were identified based on their sequence homology to Spalt, which is a homeotic gene originally cloned in Drosophila melanogaster that is important for terminal trunk structure formation in embryogenesis and imaginal disc development in the larval stages. (wikipedia.org)
  • In addition, SALL4 can also activate gene expression via the recruitment of the mixed lineage leukemia (MLL) protein, which is a homolog of Drosophila Trithorax and yeast Set1 proteins and has histone 3 lysine 4 (H3K4) trimethylation activity. (wikipedia.org)
  • unique genes
  • To identify the genes involved in the development of low temperature (LT) tolerance in hexaploid wheat, we examined the global changes in expression in response to cold of the 55,052 potentially unique genes represented in the Affymetrix Wheat Genome microarray. (biomedcentral.com)
  • target genes
  • GSE10341), hypoxia-inducible factor-1 target genes are induced to a greater extent in null fetuses than in wt siblings, supporting the notion that mutants experience lower oxygen tension or have an enhanced response to hypoxia. (biomedsearch.com)
  • promoter
  • The GnRH regulatory region contains four conserved homeodomain binding sites (ATTA) that are essential for basal promoter activity and cell-specific expression of the GnRH gene. (pubmedcentralcanada.ca)
  • Repressors bind to the Operator, coding sequences on the DNA strand that are close to or overlapping the promoter region, impeding RNA polymerase's progress along the strand, thus impeding the expression of the gene.The image to the right demonstrates regulation by a repressor in the lac operon. (wikipedia.org)
  • In organisms other than D. melanogaster, the promoter of the human and mouse IRF1 gene has been found to contain a DPE consensus sequence at the appropriate distance from the transcription start site. (wikipedia.org)
  • In a normal cell, the bulk genome is highly methylated at CpGs whereas CpG islands (CPI) at gene promoter regions remain highly methylated. (wikipedia.org)
  • Aberrant DNAm is the most common type of molecular abnormally in cancer cells, where the bulk genome because globally 'hypomethylated' and CPIs in promoter regions become 'hypermethylated', usually leading to silencing of tumour suppressor genes. (wikipedia.org)
  • For example, hypermethylation at the promoter CpG islands of a tumour suppressor gene, which in turn leads to its silencing, is frequently associated with tumourgenesis. (wikipedia.org)
  • 2002
  • He continued to pursue his interests in the areas of epigenetic control of gene expression and development, joining Cold Spring Harbor Laboratory as an assistant professor in 1998, where he was promoted to associate professor in 2002. (wikipedia.org)
  • patterns
  • DNA methylation (DNAm) patterns change over time, and vary between developmental stage and tissue type. (wikipedia.org)
  • To date, two theoretical single gene models have been proposed to explain the patterns of inheritance of handedness, the first by Marian Annett of the University of Leicester and the second by Professor Chris McManus of UCL. (wikipedia.org)
  • A large scale measurement of DNA methylation patterns from a wide selection of genes may enable us to understand better the relationships between epigenetic changes and the genesis of different diseases and a better understanding of the role that epigenetics plays in tissue specific differentiation. (wikipedia.org)
  • These genes include RefSeq genes from the NCBI CCDS Database, cancer genes that show differential methylation patterns during their course of progression and microRNA promoters. (wikipedia.org)
  • processes
  • Despite great advances in the genetic regulatory networks responsible for tissue and organ development, it is not yet clearly understood how specific gene functions are linked to the specific morphogenetic processes underlying the internal organ asymmetries found in vertebrate animals. (biomedsearch.com)
  • mutations
  • Kabuki syndrome is an autosomal dominant disorder and can be caused by loss-of-function mutations in two different genes. (wikipedia.org)
  • Hundreds of mutations have been identified in diagnosed kabuki syndrome patients for these genes. (wikipedia.org)
  • knockout
  • We have used transgenic and cell type-specific knockout strategies to determine roles for beta-catenin-regulated gene expression in normal maintenance and repair of the bronchiolar epithelium. (biomedsearch.com)
  • Functional knockout of beta-catenin had no impact on expression of Clara cell differentiation markers, mitotic index, or sensitivity of these cells to the Clara cell-specific toxicant, naphthalene. (biomedsearch.com)
  • genetic
  • Of the 526 unique eQTL associated genes, 293 correlated significantly not only with genetic variation but also with methylation levels. (biomedcentral.com)
  • Analysis of variance of gene expression separated the samples by genetic background and by the developmental stage before or after vernalization saturation was reached. (biomedcentral.com)
  • It is a genetic disorder that can lead to severe developmental anomalies. (wikipedia.org)
  • Genetic alterations associated with CdLS have been identified in genes NIPBL, SMC1A and SMC3 as well as the more recently identified genes RAD21 and HDAC8. (wikipedia.org)
  • Genetic counseling is available as a preventative treatment for kabuki syndrome because it can be inherited and expressed by only having one copy of the mutated gene. (wikipedia.org)
  • encodes
  • The SALL4 gene encodes at least three isoforms, termed A, B, and C, through alternative splicing, with the A and B forms being the most studied. (wikipedia.org)
  • genotype
  • 0.001) that change in expression with respect to both genotype and the duration of cold-treatment. (biomedcentral.com)
  • The results support the developmental model of LT tolerance gene regulation and demonstrate the complex genotype by environment interactions that determine LT adaptation in winter annual cereals. (biomedcentral.com)
  • An advantage of such studies is that many cohorts of case-control samples already exist with available genotype and expression data that can be integrated with epigenome data. (wikipedia.org)
  • Functional
  • Research on alternative splicing of both the Ikaros and Pax5 genes in rainbow trout is presented, including their functional significance. (biomedsearch.com)
  • Functional assignments using GO annotations showed that genes involved in transport, oxidation-reduction, and stress response were highly represented. (biomedcentral.com)
  • Nerve growth factor induces the expression of functional FSH receptors in newly formed follicles of the rat ovary. (biomedsearch.com)
  • apoptosis
  • At least in part, the segregation of the crest into these streams involves the focal depletion of neural crest from rhombomeres 3 and 5 through large-scale apoptosis, mediated by the induction of Bmp-4 expression in the crest primordia of these two rhombomeres. (biomedsearch.com)
  • results
  • Finally we review the evidence showing that ablation of NM II-C (which also localizes to the intercalated disc) in mouse hearts deficient in NM II-B expression results in destabilization of N-cadherin and beta-catenin in the intercalated disc. (biomedsearch.com)
  • They concluded that even though much of the developmental results are similar insofar as brain size, the trajectories by which they arrived are not shared. (wikipedia.org)
  • phenotype
  • p>Used to describe "traditional" genetic interactions such as suppressors and synthetic lethals as well as other techniques such as functional complementation, rescue experiments, or inferences about a gene drawn from the phenotype of a mutation in a different gene. (uniprot.org)
  • Although senescent cells can no longer replicate, they remain metabolically active and commonly adopt an immunogenic phenotype consisting of a pro-inflammatory secretome, the up-regulation of immune ligands, a pro-survival response, promiscuous gene expression (pGE) and stain positive for senescence-associated β-galactosidase activity. (wikipedia.org)
  • reveals
  • Transcriptional profiling of post-mortem human brains reveals commonalities in the genes over- and under-expressed in schizophrenia, bipolar disorder, autism, and major depression. (the-scientist.com)
  • thereby
  • Many races of popcorn, of the everta type, will greatly slow the development of pollen tubes from any pollen that does not carry a similar form of Ga1-S or Ga1-M, thereby preventing the ingression of genes (natural or engineered) from other types of corn. (wikipedia.org)
  • Molecular
  • Many of these regulated genes are associated with various diseases, which explains why the molecular targets of approximately 13% of U.S. Food and Drug Administration (FDA) approved drugs target nuclear receptors. (wikipedia.org)
  • nuclear
  • The regulation of gene expression by nuclear receptors generally only happens when a ligand - a molecule that affects the receptor's behavior - is present. (wikipedia.org)
  • More specifically, ligand binding to a nuclear receptor results in a conformational change in the receptor, which, in turn, activates the receptor, resulting in up- or down-regulation of gene expression. (wikipedia.org)
  • A unique property of nuclear receptors that differentiates them from other classes of receptors is their ability to directly interact with and control the expression of genomic DNA. (wikipedia.org)
  • Other nuclear receptors, such as CAR and PXR appear to function as xenobiotic sensors up-regulating the expression of cytochrome P450 enzymes that metabolize these xenobiotics. (wikipedia.org)
  • cell
  • Hematopoietic progenitor cell antigen CD34 also known as CD34 antigen is a protein that in humans is encoded by the CD34 gene. (wikipedia.org)
  • metabolic
  • O. Venkatesh P, they demonstrate that mature retinal what can change their architectures and receptor expressions, while glia can change their architectures and metabolic profiles. (luxbar-starway.ru)
  • The aim of the study was to investigate whether the G-174C polymorphism of the IL-6 gene is related to obesity and the incidence of the metabolic syndrome (MetS) according to IDF definition in children. (biomedcentral.com)
  • Mouse models of traumatic early life stress exposure result in microRNA modifications and subsequent differences in gene expression and metabolic function. (wikipedia.org)
  • Behavior
  • Early life experiences and environmental factors may lead to epigenetic modification at specific gene loci, leading to altered neuronal plasticity, function, and subsequent behavior. (wikipedia.org)
  • Methyl
  • Inattentive mothering has led to increased levels of gene methyl marks, compared to attentive mothers. (wikipedia.org)
  • mice
  • Shiverer mice contain a deletion in the MBP gene, do not produce MBP protein, and have no compact CNS myelin (for review, see Readhead and Hood, 1990 ). (jneurosci.org)
  • clock
  • In contrast to the pacemaker neurons, in which the circadian oscillations of clock gene expression what time should you take spironolactone self-sustained for many days in DD, oscillations in the peripheral clocks decline after several cycles in DD. (luxbar-starway.ru)
  • HUMAN
  • The loss of this gene is evident in the undetectable levels of sialic acid in humans but highly present in mouse, pig, chimpanzee and other mammal tissues and may provide more insight into the historic background of human evolution. (wikipedia.org)
  • The mechanisms and time of occurrence of hCONDELs are not entirely understood but given that conserved non-coding sequences play a major developmental role through regulation of genes, their loss in regions of deletions, it is expected that their loss in hCONDELs will result in developmental consequences that can be observed in human-specific traits. (wikipedia.org)
  • receptor
  • Environmental prenatal stress exposure, for example, alters glucocorticoid receptor gene expression, gene function, and future stress response in F1 and F2 generations. (wikipedia.org)
  • Simulations show that hCONDELs are enriched near genes involved in hormone receptor signaling and neural function, and near genes encoding fibronectin-type-III-or CD80-like immunoglobulin C2-set domains. (wikipedia.org)
  • An hCONDEL located near the locus of the androgen receptor (AR) gene may be responsible for the loss of whiskers and penile spines in humans compared to its closely related relatives including chimpanzees. (wikipedia.org)
  • axis
  • Stress-induced epigenetic changes, particularly to genes that effect the hypothalamic-pituitary-adrenal (HPA) axis, persist into future generations, negatively impacting the capacity of offspring to adapt to stress. (wikipedia.org)
  • Gene regulation as it relates to the HPA axis has been implicated in transgenerational stress effects. (wikipedia.org)
  • activates
  • WNK1 activates the serum-and glucocorticoid-inducible protein kinase SGK1, leading to increased expression of the epithelial sodium channel (ENaC), which also promotes sodium re absorption. (wikipedia.org)
  • mutation
  • The deletion that affects the protein coding region in humans results in a frameshift mutation in the CMAH gene which codes for the cytidine monophosphate-N-acetylneurminic acid hydroxylase-like protein, an enzyme involved in the production of N-glycolylneuraminic acid, one type of sialic acid. (wikipedia.org)
  • enhancer
  • A 3,181 bp hCONDEL which is located near the GADD45G gene removes a forebrain-specific p300 enhancer binding site. (wikipedia.org)
  • role
  • The predominant role of WNK1 is the regulation of cation-Cl− cotransporters (CCCs) such as the sodium chloride cotransporter (NCC), basolateral Na-K-Cl symporter (NKCC1), and potassium chloride cotransporter (KCC1) located within the kidney. (wikipedia.org)
  • sperm
  • This effect was reproducible by sperm RNA injection, leading to similar gene modifications in future generations. (wikipedia.org)
  • factor
  • For example, epigenetic modifications to the gene BDNF (brain derived neurotrophic factor) as a result of stress can be passed on to offspring. (wikipedia.org)
  • Corn silk can control the types of pollen that an ear of corn will accept through expression of certain forms of the Gametophyte Factor 1 gene. (wikipedia.org)
  • male
  • This is due to a developmental difference, where in the embryo, the male zebra finch produces testosterone, which is transformed into estradiol in the brain, which in turn leads to the development of the nervous system for a song system. (wikipedia.org)
  • response
  • Epigenetic re-programming of gene expression alters stress response in offspring later in life when exposed to decreased maternal care. (wikipedia.org)
  • Alpha II-spectrin gene expression has been shown to be upregulated in cardiac fibroblasts in response to Angiotensin II-induced cardiac remodeling. (wikipedia.org)
  • mouse
  • Both increased microtubule density and reduced microtubule stability were still observed in transgenic mouse nerves, indicating that signals beyond synaptogenesis and the mere presence of compact myelin are required for normal regulation of the axonal microtubule cytoskeleton. (jneurosci.org)