• We found a significantly lower expression of key autophagy- (ATG-) related genes in primary AML as compared to healthy granulocytes, an increased autophagic activity during all- trans retinoic acid- (ATRA-) induced neutrophil differentiation, and an impaired AML differentiation upon inhibition of ATG3, ATG4D, and ATG5. (hindawi.com)
  • Integration of human adipocyte chromosomal interactions with adipose gene expression prioritizes obesity-related genes from GWAS. (unc.edu)
  • After 3 weeks, we compared body weight, food intake, plasma levels of lipids and glucose, and the expression patterns of the clock genes and the genes involved in lipid metabolism in the liver and WAT. (researchgate.net)
  • LL eliminated the circadian rhythms of the expression of the clock genes as well as most of the genes involved in lipid metabolism in both liver and WAT. (researchgate.net)
  • More notably, LL markedly decreased not only the amplitude but also the average levels of the expression of the genes in the liver, but not in the WAT, suggesting that transcription in the liver is sensitive to constant light exposure. (researchgate.net)
  • Here, we assessed the combined effect of diet composition and feeding time on (1) body composition, (2) energy balance, and (3) circadian expression of hepatic clock and metabolic genes. (researchgate.net)
  • There were significant changes in the expression of 49 genes and in the abundance of 35 metabolites following BBP consumption. (nih.gov)
  • We identified 98 candidate genes containing rare variation that in aggregate show association with SLE many of which have recognized immunological function, but also function and expression related to relevant tissues such as the joints, skin, blood or central nervous system. (frontiersin.org)
  • In addition we also find that there is a significant enrichment of genes annotated for disease-causing mutations in the OMIM database, suggesting that in complex diseases such as SLE, such mutations may be involved in subtle or combined phenotypes or could accelerate specific organ abnormalities found in the disease. (frontiersin.org)
  • Overall, the expression pattern for the majority of genes assessed in this study varied significantly as a function of collection site and provides support for the hypothesis that the physiological response to emersion is distinct across populations of M. californianus . (int-res.com)
  • Our goals are to map and rescue cholinergic forebrain and cortical circuit pathology seen following AIE (Aim 1), restore cognitive functioning by exercise, NGF-gene therapy, or selective chemogenetic stimulation of cholinergic neurons (Aim 2), and identify the central role of NGF deficits, through CRISPR/dCas9 editing, in AIE-induced epigenetic silencing of cholinergic phenotype genes (Aim 3). (unc.edu)
  • The multifunctional regulator nuclear factor erythroid 2-related factor (Nrf2) is considered not only as a cytoprotective factor regulating the expression of genes coding for anti-oxidant, anti-inflammatory and detoxifying proteins, but it is also a powerful modulator of species longevity. (springer.com)
  • A previous study of C. elegans , funded by the SFARI Functional Screen of Autism-Associated Variants program , identified a number of associated phenotypes for a subset of genes linked to autism spectrum disorder (ASD). (sfari.org)
  • Rankin, Haas, Pavlidis and their collaborators used their machine vision system to rapidly quantify the effects of mutations in nearly 100 orthologs of ASD risk genes on 26 phenotypes in C. elegans . (sfari.org)
  • In follow-up experiments, they used the same paradigm to test the functionality of specific missense mutations observed in people with ASD and were also able to test for epistatic interactions between genes that had effects on the same phenotype. (sfari.org)
  • In addition to identifying habituation as an ASD-associated phenotype deserving more attention in future studies, the authors also applied the auxin-inducible degradation system to test for the ability of adult re-expression of risk genes to rescue phenotypes observed upon developmental loss of their gene products. (sfari.org)
  • The partially successful rescue of neuroligin-associated phenotypes suggests that this C. elegans -based model may be useful as an initial screen for genes whose critical roles are not solely developmental. (sfari.org)
  • Supervised analysis of kinase genes revealed a high-level FLT3 expression in a subset of cases without molecular rearrangements. (aacrjournals.org)
  • Genomic profiling also identifies genes associated with poor outcome in cases without molecular aberrations and specific genes that may be new therapeutic targets in adult ALL. (aacrjournals.org)
  • 5′-aza-dC and/or Trichostatin A resulted in transcriptional upregulation of the genes, suggesting that low expression of ECM components, proteoglycan core proteins and HS biosynthetic system is due to epigenetic suppression in type I cells. (oncotarget.com)
  • Almost half of the genes expressed in adults showed reduced expression, supporting a broad role for the three tested genes in steady-state transcript abundance. (sdbonline.org)
  • Genes showing reduced expression due to these RNAi treatments were short and enriched for genes encoding metabolic or enzymatic functions. (sdbonline.org)
  • Hundreds of genes were observed with sex-biased differential expression following treatment. (sdbonline.org)
  • 2) lilli mutation strongly suppresses the rough eye phenotype of ectopically expressed phyllopod (Tang, 2001), and (3) lilli was identified in a screen for genes that enhance the embryonic lethal phenotype of dpp alleles (Su, 2001). (sdbonline.org)
  • These mutant phenotypes correlate with markedly reduced expression of the early zygotic genes serendipity alpha , fushi tarazu and huckebein , which are essential for cellularization and embryonic patterning (Tang, 2001). (sdbonline.org)
  • El objetivo de nuestro estudio tuvo como objetivo revisar y correlacionar genes involucrados en TEA y aque- llos relacionados con la comunicación ultrasónica en estudios con modelos animales de comportamiento social basado en el lenguaje en la base de datos PubMed. (bvsalud.org)
  • Downregulated adipose tissue expression of browning genes with increased environmental temperatures. (medscape.com)
  • However, prior to lineage commitment, genes are primed at low expression levels. (lu.se)
  • Low PU.1 expression in AML may account for low ATG gene expression in this disease. (hindawi.com)
  • In that study, there was significant upregulation of Toll-like receptor (TLR)2 gene expression and a corresponding increase in CXC ligand 8 (interleukin (IL)-8) in NA. (ersjournals.com)
  • GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
  • Meta-Analysis of Airway Epithelia Gene Expression in Asthma. (unc.edu)
  • Gene expression-phenotype associations in adults with eosinophilic esophagitis. (unc.edu)
  • The diverse cell types are genetically identical, but differ in their form and function due to differences in gene expression. (edu.au)
  • Objective Eating out of phase with the endogenous biological clock alters clock and metabolic gene expression in rodents and can induce obesity and type 2 diabetes mellitus. (researchgate.net)
  • Diet composition can also affect clock gene expression. (researchgate.net)
  • To analyze the regulatory mechanism involved in the high growth potential of C. virgata , we performed RNA-seq-based transcriptome analysis and illustrated a comprehensive gene expression map of the species. (frontiersin.org)
  • Fasting blood gene expression profiles and plasma metabolomic profiles were examined at baseline and week 8 to assess metabolic changes occurring in response to the BBP. (nih.gov)
  • However, changes in gene expression and metabolite abundance suggest that clinically significant cardiometabolic changes could take longer than 8 weeks to present and/or could result from whole blueberry consumption or a higher dosage. (nih.gov)
  • ABSTRACT: We used a cDNA microarray to profile gene expression in the intertidal mussel Mytilus californianus across major portions of its biogeographic range. (int-res.com)
  • Gene expression patterns in mussels from Strawberry Hill, Oregon, displayed a unique expression phenotype that was distinct from the other 3 mussel populations sampled. (int-res.com)
  • To characterize gene expression signatures in acute lymphocytic leukemia (ALL) cells associated with known genotypic abnormalities in adult patients. (aacrjournals.org)
  • Gene expression profiles from 128 adult patients with newly diagnosed ALL were characterized using high-density oligonucleotide microarrays. (aacrjournals.org)
  • T-lineage ALL was characterized by a homogeneous gene expression pattern, whereas several subgroups of B-lineage ALL were evident. (aacrjournals.org)
  • BCR/ABL + gene expression pattern was more heterogeneous and was most similar to ALL without known molecular rearrangements. (aacrjournals.org)
  • Local overexpression of Su(H)-MAPK variants affects Notch target gene expression and adult phenotypes in Drosophila. (mpg.de)
  • Regarding animal models in ASD, many studies focus on gene expression, cortical neuronal migration and cell maturation, and neural network deficits. (bvsalud.org)
  • However, very few studies directly link animal oral communication and gene expression in cortical areas of language. (bvsalud.org)
  • Increasing evidence emphasize that a substantial variance of protein expression is conveyed at the levels of protein synthesis and degradation, and that post-transcriptional control of gene expression plays a critical role in multiple aspects of cell biology, including coordination of cellular processes and rapid alteration of cellular phenotype. (lu.se)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • Mutations in this gene have been associated with adult i blood group phenotype. (nih.gov)
  • lilli mutations disrupt the transvection-dependent dpp phenotype and are also dominant maternal enhancers of recessive embryonic lethal alleles of dpp and screw . (sdbonline.org)
  • lilli zygotic mutant embryos exhibit a partially ventralized phenotype similar to dpp embryonic lethal mutations (Su, 2001). (sdbonline.org)
  • Phenotypic analysis of these ' in locus ' mutations based on both expression of Kni protein and adult wing phenotypes, reveals novel unexpected features of L2-CRM function including evidence for a chromosome pairing-dependent process that promotes transcription. (elifesciences.org)
  • Mutations in TET2 , encoding one of the TET members responsible for the conversion of DNA cytosine methylation to hydroxymethylation (5-hmc), have been recently described in Human T-lymphotropic virus type 1-associated adult T-cell leukemia/lymphoma (ATLL). (oncotarget.com)
  • Moreover, IGSF1 mutations are also commonly associated with other clinical phenotypes, including prolactin and growth hormone dysregulation, and macroorchidism. (medscape.com)
  • Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. (lu.se)
  • Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis. (lu.se)
  • To avoid potential confounding by sample-to-sample differences in the quality and yield of RNA preparations, or by interindividual differences in trans -acting factors that influence the expression of CYP2A13 , we determined the relative expression of variant and wild-type (WT) CYP2A13 alleles in RNA samples from heterozygotes. (aspetjournals.org)
  • 90 different alleles have been identified and described by protease inhibitor (PI*) phenotype. (msdmanuals.com)
  • These findings show that both allelic heterogeneity and different combinations of alleles at a locus can be important for the manifestations of disease traits, that the combination of rare variant coding alleles with common variant non-coding alleles can be important for trait manifestation or for the penetrance of disease, and that gene dosage and expression perturbations can result in developmental birth defects. (cdc.gov)
  • Homozygous null males develop adult-onset obesity, are hyperphagic, and have decreased energy expenditure and locomotor activity. (jax.org)
  • The compound inheritance gene dosage model shows that haploinsufficiency does not cause the phenotype whereas a homozygous null allele is lethal. (cdc.gov)
  • Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection. (lu.se)
  • In some individuals, this phenotype ameliorates with age, resulting in a clinical catch-up and normal IQ in adulthood. (nature.com)
  • The post-transcriptional balance of CUX1 expression in the heterozygous brain at late developmental stages appears important for this favorable clinical course. (nature.com)
  • Adults with stable (n=29) or acute (n=22) asthma, healthy adults (n=11), children with stable (n=49) or acute (n=28) asthma, and healthy children (n=9) underwent clinical assessment and sputum induction. (ersjournals.com)
  • Other authors of the study were Richard Zweig, Ph.D., assistant clinical professor of psychiatry and behavioral sciences at Einstein and director of the Older Adult Program at Ferkauf, and Gil Atzmon, Ph.D., assistant professor of medicine and of genetics at Einstein. (sciencedaily.com)
  • One potential cause of the variability in response to treatment is heterogeneity in the role of interleukin-13 expression in the clinical asthma phenotype. (nih.gov)
  • It is now evident that the genetic background of affected individuals imparts a substantial portion of the variation in clinical phenotype [ 2 ]. (biomedcentral.com)
  • Major breakthroughs in medical genomics have been enabled by the implementation of clinical exome sequencing (ES) for molecular diagnosis, by genomics approaches for understanding the genetic basis of complex traits and diseases, and by progress in understanding genotype–phenotype relationships. (cdc.gov)
  • The clinical phenotype is extremely variable, ranging from an acute neonatal form, with mainly liver involvement and rapid neurologic deterioration, to an adult late-onset form, with slowly progressive ataxia and a movement disorder. (medscape.com)
  • The window for the expression of those unique properties in each cohort is determined by the time required to acquire a mature neuronal phenotype. (jneurosci.org)
  • Our findings reveal a novel type of activity-dependent plasticity acting on the timing of neuronal maturation and functional integration of newly generated neurons along the longitudinal axis of the adult hippocampus. (jneurosci.org)
  • Adult neurogenesis is a complex process whereby neural progenitor cells adopt a neuronal fate, migrate, and mature over several weeks. (jneurosci.org)
  • This demonstrates that AIE is initially marked by a reduction of the expression of cholinergic neuronal phenotypes, rather than neuronal cell death. (unc.edu)
  • AIE, which models human adolescent binge drinking, causes persistent reductions of both cortical NGF and NbM cholinergic phenotype neuronal markers (e.g. (unc.edu)
  • Con respecto a los modelos animales en TEA, muchos estudios se centran en la expresión génica, la migración y maduración neuronal cortical y los déficits de la red neuronal, pero muy pocos son los estudios que relacionen directamente la comunicación oral animal y la expresión génica en áreas corticales del lenguaje. (bvsalud.org)
  • These findings provide a basis for further studies that associate CYP2A13 haplotypes with incidences of smoking-related lung tumors and for studies on the mechanisms of the low-expression phenotype of the 7520G-containing allele. (aspetjournals.org)
  • Evaluation of HLA-B*05, *07, *08, *27 and *51 Allele Expression in Adults with Immune Thrombocytopenic Purpura. (cdc.gov)
  • In summary, disease-causing CUX1 variants result in a non-syndromic phenotype of developmental delay and intellectual disability. (nature.com)
  • Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways. (unc.edu)
  • An operational definition of asthma developed by experts logical mechanisms of different asthma phenotypes, including in the field (1) describes major attributes of the disorder. (cdc.gov)
  • Small Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of Mutagenesis. (medscape.com)
  • Inflammatory phenotypes are recognised in stable adult asthma, but are less well established in childhood and acute asthma. (ersjournals.com)
  • This study examined the prevalence of inflammatory phenotypes and the presence of current C. pneumoniae infection in adults and children with stable and acute asthma. (ersjournals.com)
  • Paucigranulocytic asthma was the most common phenotype in both adults and children with stable asthma. (ersjournals.com)
  • The pattern of inflammatory phenotypes differs between adults and children, with eosinophilic inflammation being more prevalent in both acute and stable childhood asthma, and neutrophilic inflammation being the dominant pattern of acute asthma in adults. (ersjournals.com)
  • We have previously categorised stable adult asthma into four inflammatory phenotypes based on induced sputum inflammatory cell counts [ 2 ]. (ersjournals.com)
  • The occurrence and relative frequency of these phenotypes in acute asthma and childhood asthma are not known. (ersjournals.com)
  • NA occurs typically in older adults and there is evidence that C. pneumoniae infection might precede the onset of adult asthma, as well as persisting in stable chronic asthmatics [ 8 ]. (ersjournals.com)
  • Furthermore, the noneosinophilic phenotype of severe asthma is improved by macrolide antibiotics, a class of drugs that are active against C. pneumoniae [ 9 ]. (ersjournals.com)
  • Thus, C. pneumoniae may play a potential role in modulating the different inflammatory phenotypes of asthma, and NA in particular. (ersjournals.com)
  • We conducted a randomized, double-blind, placebo-controlled study of lebrikizumab, a monoclonal antibody to interleukin-13, in 219 adults who had asthma that was inadequately controlled despite inhaled glucocorticoid therapy. (nih.gov)
  • Background: Molecular biomarkers that identify the phenotype of blood eosinophilia were evaluated in adult asthmatics, and their relationship with clinically significant asthma outcomes was assessed. (uzh.ch)
  • The presence of high or low expression of MCP-1, eotaxin, and IL-8 identified two separate blood eosinophilia patient clusters linked to asthma severity. (uzh.ch)
  • Conclusion: Serum IL-5 and IL-13 are reliable biomarkers for the blood eosinophilia asthma phenotype. (uzh.ch)
  • High or low expression of MCP-1, eotaxin, and IL-8 discriminates between eosinophilic asthma severity clusters. (uzh.ch)
  • 2002]. Diesel particles may promote expression of the immunologic response phenotype (Th2) associated with asthma and allergic disease and may have greater immunologic effects in the presence of environmental allergens. (cdc.gov)
  • Internationally, the prevalence of asthma (and related hospitalizations and mortality) continues to rise in adults and children. (cdc.gov)
  • Both genetics and environmental factors influence the expression of asthma, and not all asthma is the result of a specific immune response to allergen. (cdc.gov)
  • Numerous asthma phenotypes have been described, including occupational asthma, and therapeutic strategies for asthma control are similar regardless of phenotype. (cdc.gov)
  • Numerous phenotypes of asthma have inflammation, airway hyperresponsiveness and mucus produc- been described, and a better understanding of the pathophysio- tion. (cdc.gov)
  • Examples of high molecular environmental factors are known to influence the development weight occupational allergens include proteases used in the and expression of asthma, and a vast array of triggers of asthma detergent industry, laboratory animal allergens, and ovalbumin have been identified. (cdc.gov)
  • Cognitive phenotypes such as developmental delay/intellectual disability (DD/ID), autism, and schizophrenia are complex traits. (cdc.gov)
  • BK Polyomavirus Genomic Integration and Large T Antigen Expression: Evolving Paradigms in Human Oncogenesis. (unc.edu)
  • Genomic signatures are associated with phenotypically and molecularly well defined subgroups of adult ALL. (aacrjournals.org)
  • However, neither the amount of genomic 5-hmc in ATLL tumor cells nor TET2 expression has been studied yet. (oncotarget.com)
  • All isolates expressing the mefA gene displayed the M phenotype whilst all those expressing ermB displayed the constitutive macrolide resistance (cMLS(B)) phenotype. (lenus.ie)
  • Furthermore, this 5-hmc defect was more pronounced in tumor T cells from acute patients than from chronic ones and correlated with reduced expression of TET2 protein. (oncotarget.com)
  • Multiple elongation complexes exist, but the role of specific components in adult Drosophila is underexplored. (sdbonline.org)
  • Analysis of phenotype, genotype and serotype distribution in erythromycin-resistant group B streptococci isolated from vaginal flora in Southern Ireland. (lenus.ie)
  • Some phenotype-genotype correlation was observed. (lenus.ie)
  • The adult hippocampus continuously generates new cohorts of immature neurons with increased excitability and plasticity. (jneurosci.org)
  • Here, we show that local network activity regulates the rate of maturation of adult-born neurons along the septotemporal axis of the hippocampus. (jneurosci.org)
  • Confocal microscopy and patch-clamp recordings were combined to assess marker expression, morphological development, and functional properties in retrovirally labeled neurons over time. (jneurosci.org)
  • AIE) are a reduction of cortical nerve growth factor (NGF), suppression of the cholinergic phenotypes, and a long-term decrease in the number of functional cholinergic basal forebrain neurons (CBFNs). (unc.edu)
  • AIE reductions of cortical NGF likely contribute to decreased expression of NbM cholinergic phenotype markers as NGF is require for maintenance of cholinergic neurons. (unc.edu)
  • In paper №2, I describe how mesDA neurons transplanted in the adult SN of a PD mouse model, extended axons across millimetres into the striatum, functionally reforming the nigrostriatal pathway. (lu.se)
  • Molecular cloning and analysis of novel cDNAs specifically expressed in adult mouse testes. (jax.org)
  • The broad interest of our group lies in understanding the molecular differences between fetal and adult hematopoiesis . (lu.se)
  • The phenotype of iPS-HSCs, including gene and protein expression profiles and vitamin A storage, resembled that of hepatic stellate cells. (ca.gov)
  • While exposure to allergen in a sensitised individual can elicit an eosinophilic response, the triggers of the noneosinophilic phenotypes have been less well studied. (ersjournals.com)
  • These results demonstrate the loss of AND-34 dysregulates focal adhesion complex signaling in lens epithelial cells and suggest that AND-34-mediated signaling is required for maintenance of the structural integrity of the adult ocular lens. (molvis.org)
  • Controlling the phenotype of transplanted stem cells is integral to ensuring their therapeutic efficacy. (amrita.edu)
  • Nfix may suppress oligodendrocyte expression so cells remain committed to neuron development within the dentate gyrus. (wikipedia.org)
  • Human induced pluripotent stem cells (iPSCs) offer a potential unlimited source of adult cell types with numerous applications in regenerative medicine. (ca.gov)
  • Human induced pluripotent stem (iPS) cells can differentiate into hepatocyte lineages, although the phenotype of the differentiated cells is immature compared to adult hepatocytes. (ca.gov)
  • Conclusion Expression of SOX2 and MUC5B and lack of SPDEF in atypically differentiated cells of bronchiolised distal airspaces are consistent with abnormal programming of airway epithelial cells in IPF. (bmj.com)
  • Within the MAD for Cancer Program we aim to clarify the link between kidney cancer and the kidney progenitor cells, and to develop novel biomarkers for kidney cancer based on our understanding of adult kidney progenitor cells. (lu.se)
  • Cells with high expression of HIF-2 α have properties rendering the tumors aggressive behavior potentially being the neuroblastoma tumor stem cells. (lu.se)
  • By using direct reprogramming strategies, I could induce the expression of tumor antigens on the surface of cancer cells, making them visible to the immune system again. (lu.se)
  • Timing Is Everything: Highly Specific and Transient Expression of a MAP Kinase Determines Auxin-Induced Leaf Venation Patterns in Arabidopsis. (mpg.de)
  • This effect is accompanied by epigenetic changes involving histone post-translational modifications at the mineralocorticoid receptor (MR) gene and decreased MR expression in the hippocampus. (nature.com)
  • In adult development, the timing of neural differentiation is regulated by Nfix to promote ongoing growth of the hippocampus and proper memory function. (wikipedia.org)
  • Kitlg mutant mice have defects in spatial learning, a phenotype proposed to be due to the Kitlg expression domain in the adult hippocampus. (discovermagazine.com)
  • Of 19 isolates that expressed the ermTR gene, 16 displayed the inducible macrolide resistance (iMLS(B)) phenotype. (lenus.ie)
  • By using in-depth mass spectrometry-based quantitative proteomics to monitor protein levels in a comprehensive and quantitative manner, our ongoing research aims at defining the fetal- and adult-specific proteomic programs that regulate normal and malignant hematopoiesis. (lu.se)
  • We analyze brain CUX1 expression and susceptibility to epilepsy in Cux1 +/− mice. (nature.com)
  • In an inducible knockout, restoration of Shank3 expression in adult mice promoted dendritic spine growth and recovered normal grooming behaviour and voluntary social interaction. (wikipedia.org)
  • Here we expose newborn mice to unpredictable maternal separation combined with unpredictable maternal stress (MSUS) for 2 weeks and assess the impact on behaviour in the offspring when adult. (nature.com)
  • We show that MSUS in male mice favours goal-directed behaviours and behavioural flexibility in the adult offspring. (nature.com)
  • We used loss- and gain-of-function approaches including genetic manipulation of the lipolytic enzyme Pnpla2 , change in environmental temperature, and lifestyle interventions to comprehensively test the premise that a thermogenic-like BAT phenotype is coupled with enhanced glucose tolerance in female mice. (diabetesjournals.org)
  • Thus, transcriptional profiles suggest that Lilliputian and Suppressor of Triplolethal are obligatory cofactors in the adult and that they can also function with Cyclin-dependent kinase 9 at a subset of loci. (sdbonline.org)
  • Heavy alcohol consumption during adolescence is associated with persistent changes in brain structure, connectivity, and adult cortical-mediated cognitive function. (unc.edu)
  • Our overarching hypothesis is that AIE-induced reductions of NGF in cortical projection sites leads to epigenetic silencing of cholinergic phenotypes with the NbM, retraction and/or dysfunctional re-innervation of the cortical-NbM cholinergic connectome, causing blunting of cortical cholinergic tone and cognitive dysfunction. (unc.edu)
  • Adult AIE-treated rats display reduced behaviorally-evoked ACh efflux in the mPFC and OFC, which is paralleled by impaired frontocortical-dependent behaviors (cognitive and behavioral flexibility). (unc.edu)
  • The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. (nih.gov)
  • Heterocellular hereditary persistence of fetal hemoglobin (HPFH) is a common multifactorial trait characterized by a modest increase of fetal hemoglobin levels in adults. (biomedcentral.com)
  • This is accompanied by epigenetic changes at the mineralocorticoid receptor (MR) gene and decreased MR expression, that can be mimicked in vivo by pharmacological blockade of MR. These findings highlight the potential adaptive benefit of adverse experiences in early life, and implicate a stress hormone receptor and its epigenetic regulation. (nature.com)
  • During embryonic development, the unique cellular phenotypes of the adult are established. (edu.au)
  • RNA In Situ Hybridization on Plant Tissue Sections: Expression Analysis at Cellular Resolution. (mpg.de)
  • We are currently investigating the function of chromatin modifiers during embryonic development, in adult stem cell populations and in cancer, and modelling chromatin-based intellectual disability to discover ameliorating treatments. (edu.au)
  • Cux1 heterozygous ( Cux1 +/ − ) animals are fertile and display no obvious phenotypes, but an in-depth analysis of the consequence of heterozygosis has never been pursued [ 13 ]. (nature.com)
  • These two phenotypic classes appear to reflect variation inherent to the lilli loss-of-function phenotype, rather than partial rescue by a paternal copy of lilli , since they are similarly observed whether wild-type or heterozygous lilli males are used. (sdbonline.org)
  • Severe course of community-acquired pneumonia in an adult patient who is heterozygous for Q481P in the perforin gene: are carriers of the mutation free of risk? (lu.se)
  • Hepatic accumulation of abnormal alpha-1 antitrypsin can cause liver disease in both children and adults. (msdmanuals.com)
  • Low expression of the autophagy initiator ULK1 in AML can partially be attributed to high expression of the ULK1-targeting microRNA-106a. (hindawi.com)
  • We characterized the epidemiology, host-pathogen characteristics, and outcomes of severe adult pulmonary Streptococcus pyogenes infections that coincided with a high community caseload in central Scotland, UK. (cdc.gov)
  • The aim of this study was to identify any impact of CYP2A13 single-nucleotide polymorphisms (SNPs) on CYP2A13 expression in human lung. (aspetjournals.org)
  • CYP2A13 genetic polymorphisms may be associated with interindividual differences in susceptibility to tobacco-related tumorigenesis, because the resultant variations in CYP2A13 expression and metabolic activity can significantly alter the extent of NNK metabolic activation in human lung. (aspetjournals.org)
  • In the present study, we determined the potential impact of selected CYP2A13 SNPs on levels of CYP2A13 expression in human lung. (aspetjournals.org)
  • Activation of abnormal respiratory epithelial differentiation programs may contribute to the expression of MUC5B and bronchiolisation of the distal lung, a salient feature of IPF. (bmj.com)
  • Alpha-1 antitrypsin deficiency is congenital lack of a primary lung antiprotease, alpha-1 antitrypsin, which leads to increased protease-mediated tissue destruction and emphysema in adults. (msdmanuals.com)
  • This response is mediated via innate immune activation and evidence of innate immune dysregulation in adults with NA has previously been reported [ 3 ]. (ersjournals.com)
  • Wing vein phenotypes resulting from these trans-species enhancer replacements parallel features of the respective donor fly species. (elifesciences.org)
  • Expression of CUX1 proteins was reduced, although in early postnatal animals significantly more than in adults. (nature.com)
  • Tightly regulated HSPGs expression is a requirement for normal B cell maturation, differentiation and function [ 4 ] and the conformation of their HS polysaccharide chains is crucial for recruitment of factors that control plasma cell survival [ 5 ]. (oncotarget.com)
  • It is unclear if the expression of other isoforms (b and c) of SHANK3 is affected in this rodent model. (wikipedia.org)
  • In work performed by Division of Translational Cancer Research it is shows that the hypoxic state pushes neuroblastoma and breast cancer towards an immature, stem cell-like phenotype. (lu.se)
  • Subsequently, we developed a method for the measurement of relative allelic expression, by taking advantage of the capability for melting-curve analysis in real-time PCR. (aspetjournals.org)
  • An 8-week BBP intervention did not significantly improve traditional markers of cardiometabolic health in adults at risk of developing MetS. (nih.gov)
  • This correlated with enhanced chondrogenesis and a reduction in the expression of markers associated with chondrocyte hypertrophy, as well as increased SMAD 2/3 nuclear localization in the encapsulated MSCs. (amrita.edu)
  • We sought to establish the effects of the loss of AND-34 expression in a mammalian organism. (molvis.org)
  • Moreover, our transcriptome map demonstrated the expression profiles of orthologs involved in the biosynthesis of these phytohormones and their signaling networks. (frontiersin.org)
  • Second-generation (F2) offspring were obtained by breeding males, subjected to MSUS when pups or control males (F1), to wild-type C57BL/6 adult females ( Supplementary Fig. 1 ). (nature.com)
  • Utility of polygenic scores for differentiating diabetes diagnosis among patients with atypical phenotypes of diabetes. (medscape.com)
  • Virus infectivity was assayed by adding the treated material to cultured lymphocytes and periodically monitoring these for signs of viral replication (reverse transcriptase activity and virus antigen expression) (1) and in the case of HTLV-I and HTLV-II, transformation (2,3). (cdc.gov)
  • Similarly, the relationship of specific phenotypes to infectious triggers has not been well studied. (ersjournals.com)
  • An inframe perforin gene deletion in familial hemophagocytic lymphohistiocytosis is associated with perforin expression. (lu.se)