• These observations are difficult to reconcile with a simple genotype-phenotype correlation and we suggest that factors or genes other than alpha-NAGA contribute to the clinical heterogeneity of the eight patients with alpha-NAGA deficiency. (bmj.com)
  • As compared to controls (0 ppm BD), BD had extensive effects on lung metabolism at all concentrations of exposure, including the lowest concentration of 2 ppm, as reflected by reprogramming of multiple metabolic pathways. (utmb.edu)
  • He is also creating detailed cell phenotypes and vivid images of cell neighborhoods from CyTOF, Codex and MIBI machines, allowing the visualization of cells and tissues with multiple markers and the development of network models of signaling pathways. (stanford.edu)
  • This information upgrades the case reports by related data of the corresponding diseases as well as involved enzymes, genes and metabolic pathways. (uni-bielefeld.de)
  • T cells must substantially increase nutrient uptake to mount a proper immune response and failure to obtain sufficient nutrients or engage the appropriate metabolic pathways can alter or prevent effector T cell differentiation and function. (elifesciences.org)
  • Here, we show that the emergence of blood is regulated by multiple metabolic pathways that induce or modulate the differentiation toward specific hematopoietic lineages during human EHT. (lu.se)
  • SIRT1 is increased in affected brain regions and hypothalamic metabolic pathways are altered in Huntington disease. (lu.se)
  • Fig. 4: Transfer of steatotic and metabolic phenotypes to mice through FMT of material from patients with liver steatosis grade 3. (nature.com)
  • Fig. 5: Microbial PAA induces liver steatosis and BCAA use in primary human hepatocytes and mice. (nature.com)
  • Using mice, the International Mouse Phenotyping Consortium (IMPC) aims to target each protein-coding gene and phenotype multiple organ systems in single-gene knockout models by a global network of mouse clinics. (springer.com)
  • Beyond that, we are linking metabolism to the heart and describing phenotypes that emerge in a set of known genes, when knocked out in mice, such as the leptin receptor ( Lepr ), leptin ( Lep ), and Bardet-Biedl syndrome 5 ( Bbs5 ). (springer.com)
  • These extensive high-throughput data from IMPC mice provide a promising opportunity to explore genetics causing metabolic heart disease with an important translational approach. (springer.com)
  • We have previously shown that 11β-HSD1KO mice are protected from both the adverse metabolic effects of excess glucocorticoids and age-associated muscle weakness. (endocrine-abstracts.org)
  • Before a new vaccine is licensed for use, it is thoroughly tested in mice and rodents, and then in human volunteers, to ensure it will cause little or no inflammation. (elifesciences.org)
  • 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)
  • Insulin resistance and other features of the metabolic syndrome have been causally linked to adipose tissue macrophages (ATMs) in mice with diet-induced obesity. (diabetesjournals.org)
  • The phenotype was reinforced by the observation that chronic unexpected mild stress (CUMS)-induced depressive mice exhibited lowered expression of PGAM5 in prefrontal cortex (PFC), hippocampus (HIP), and striatum. (bvsalud.org)
  • We then conducted ATP administration to PGAM5-/- mice and found that ATP could rescue the behavioral and neuronal phenotypes of PGAM5-/- mice. (bvsalud.org)
  • Hypothalamic expression of huntingtin causes distinct metabolic changes in Huntington's disease mice. (lu.se)
  • Dichloromethane (DCM) is possibly carcinogenic to human s (Group 2B) based on sufficient evidence in experimental animals [lung and liver tumors in mice exposed by inhalation, and mammary tumors in rats (both sexes) exposed by inhalation]. (who.int)
  • 2 3 The HGP demonstrated that a relatively limited number of genes could be identified in the human genome, which substantiated the theory that complex biological processes were regulated on other levels than DNA sequence alone. (bmj.com)
  • The identification of causal or predictive variants/genes/mechanisms for disease-associated traits is characterized by 'complex' networks of molecular phenotypes. (researchgate.net)
  • Methods A next-generation sequencing (NGS) panel was created for the human TRPV1 gene and in addition, for the leukotriene receptors BLT1 and BLT2 recently described to modulate TRPV1 mediated sensitisation processes rendering the coding genes LTB4R and LTB4R2 important co-players in pharmacogenetic approaches involving TRPV1. (researchgate.net)
  • The NGS workflow was based on a custom AmpliSeq™ panel and designed for sequencing of human genes on an Ion PGM™ Sequencer. (researchgate.net)
  • a) high-through-puts screen in human skeletal muscle cells to silence or overexpress candidate genes to establish the functional impact on metabolism. (ki.se)
  • Our findings indicate that host genetics influence the composition of the human gut microbiome and can do so in ways that impact host metabolism. (nih.gov)
  • This review will discuss the metabolic changes that drive T cells into different stages of their development and how the TME imposes barriers to the metabolism and activity of tumor infiltrating lymphocytes. (elifesciences.org)
  • Heterogeneity of healthy aging: comparing long-lived families across five healthy aging phenotypes of blood pressure, memory, pulmonary function, grip strength, and metabolism. (sdu.dk)
  • Other selected metabolic polymorphisms associated with diseases included slow acetylator phenotype, microsomal oxidizing systems, and paraoxonase deficiency. (cdc.gov)
  • We first showed that the FKHL15 gene is the human homologue of TTF-2, identifying a homozygous, loss-of-function, mutation in two siblings with CH, thyroid agenesis, clef. (endocrine-abstracts.org)
  • So did scientists when they found that a version of the UCP2 gene-a gene that's capable of decreasing energy production in humans-may help our body respond to exercise. (helix.com)
  • b) medium-through-put screens (electroporation) to determine the consequence of gene silencing or overexpression on the whole-body metabolic phenotype at tissue (organ) level. (ki.se)
  • The use of cardiac myocytes derived from human induced pluripotent stem cells (Hu-iPSC-CM), molecular reporters and advances in gene editing provides diverse unprecedented opportunities to rigorously study these fundamental processes in human cardiac cells. (upenn.edu)
  • Small Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of Mutagenesis. (medscape.com)
  • Assuming the right phenotype in the right setting is crucial as macrophage dysfunction has b. (endocrine-abstracts.org)
  • His research uses animal models of disease in which molecules of interest have been ablated in specific tissues/cells, as well as human subjects and tissues, to evaluate the effects of hyperlipidemia and obesity on monocyte/macrophage phenotypes and their contributions to atherosclerosis and inflammation, with the goal of determining causal links between inflammation and metabolic dysfunctions, to identify novel therapeutic targets for patients with insulin resistance, diabetes, and atherosclerosis. (bcm.edu)
  • We aimed to characterize macrophage phenotype and function in human subcutaneous and omental adipose tissue in relation to insulin resistance in obesity. (diabetesjournals.org)
  • Here, we report the use of a targeted liquid chromatography coupled to tandem mass spectrometry (LC-MS/MS) method for concurrent quantification of multiple cytochrome P450 (P450), UDP-glucuronosyltransferase (UGT), and transporter proteins in cultured primary human hepatocytes. (aspetjournals.org)
  • Assay conditions, such as culture format and duration, media supplements etc., were reported previously to alter the phenotype and induction response of cultured hepatocytes ( LeCluyse, 2001 ). (aspetjournals.org)
  • Using a pooled approach, we undertook exon sequencing of PPARA in 11,848 adult participants of the Fenland study, a population-based cohort study with detailed metabolic phenotyping. (endocrine-abstracts.org)
  • A novel healthy metabolic phenotype developed among a cohort of families enriched for longevity. (sdu.dk)
  • Human complex metabolic traits are in part regulated by genetic determinants. (lu.se)
  • We applied exome sequencing as a basis for finding genetic determinants of metabolic traits and show the existence of low-frequency and common coding polymorphisms with impact on common metabolic traits. (lu.se)
  • article{56523986-819a-47dd-8322-bd05ce5e7b7d, abstract = {{Human complex metabolic traits are in part regulated by genetic determinants. (lu.se)
  • However, whether host genetic variation shapes the gut microbiome and interacts with it to affect host phenotype is unclear. (nih.gov)
  • Some studies have suggested a role for this protein in maintaining centriole-nucleated sensory organelles termed primary cilia, and AS is now considered to belong to the growing class of human genetic disorders linked to ciliary dysfunction (ciliopathies). (springer.com)
  • Currently, 794 case reports have been submitted, describing 92 different genetic metabolic diseases. (uni-bielefeld.de)
  • The contribution of genetic variability is briefly summarized for human longevity, common chronic diseases, physical activity level, cardiorespiratory fitness in the sedentary state, and in response to exercise programs. (humankinetics.com)
  • These findings identify proinflammatory CD11c + ATMs as markers of insulin resistance in human obesity. (diabetesjournals.org)
  • Is metabolic and bariatric surgery a safe and effective therapeutic option for adolescents with severe obesity? (medscape.com)
  • Risk for obesity and metabolic disorders begins during perspective can inform more effective and sustainable gestation (1). (cdc.gov)
  • Another study found pregnancy has been associated with low birth weight, a that smoking during the 12 months before birth of a child marker of risk for obesity and other metabolic disorders was associated with adolescent overweight (21). (cdc.gov)
  • Metabolic conditions including obesity and diabetes have been shown to be associated with reductions in the diversity of gut bacteria, and the latter is now acknowledged to play a key role in human health. (medscape.com)
  • The present review provides a comprehensive assessment of mitochondrial phenotypes reported in iPSC-derived neurons generated from PD patients' somatic cells, with an emphasis on the role of mitochondrial respiration, morphology, and trafficking, as well as mitophagy and calcium handling in health and disease. (uni-muenchen.de)
  • Increasingly, complementary use of primary human cardiac myocytes, iPSC-derived cardiac myocytes and engineered cardiac microtissues are employed as versatile tools to balance human relevance and mechanistic clarity to advance these inquiries. (upenn.edu)
  • Failure of the PN is associated with broad range of diseases including cancer, neurodegeneration, and immunological and metabolic disorders [ 1 ]. (hindawi.com)
  • Experimental rodent models play a central role in cardiovascular disease research by effectively simulating human cardiovascular diseases. (springer.com)
  • Measles, whooping cough and other diseases can cause serious illness and death in humans, especially in young children and other vulnerable individuals. (elifesciences.org)
  • RAMEDIS is a manually curated resource of human variations and corresponding phenotypes for rare metabolic diseases. (uni-bielefeld.de)
  • To enhance the comprehensive coverage of available knowledge in the field of rare metabolic diseases, all case reports are linked to integrated information from public molecular biology databases like KEGG, OMIM and ENZYME. (uni-bielefeld.de)
  • Töpel T, Scheible D, Trefz F, Hofestädt R. RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases. (uni-bielefeld.de)
  • RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases", Human Mutation , vol. 31, 2010, pp. (uni-bielefeld.de)
  • Moreover, I am the course leader of an international master course for biomedical students (or equivalent) given at lund university in metabolic diseases (course code BIM23). (lu.se)
  • At the metabolic level, the patients with alpha-NAGA deficiency are similar. (bmj.com)
  • Very recently, human monoclonal antibodies were approved for use on patients with COVID-19. (frontiersin.org)
  • However, many patients fail to respond to these therapies, and metabolic barriers imposed on T cells by the TME may contribute. (elifesciences.org)
  • But these treatments, to some extent, easily produce side effects on normal cells, organs, and other tissues of the human body, thus accelerating the death process of cancer patients. (hindawi.com)
  • Utility of polygenic scores for differentiating diabetes diagnosis among patients with atypical phenotypes of diabetes. (medscape.com)
  • We are currently expanding our model systems to include human inducible pluripotent stem cells (hIPSC) derived from patients with distinct geno- and phenotypes. (lu.se)
  • Genotype-phenotype correlations are being delineated to provide a molecular explanation for the clinical variability seen in patients with Krabbe disease. (medscape.com)
  • RÉSUMÉ L'objectif de cette étude menée en Tunisie était de classifier le diabète débutant par une cétose chez des patients adultes. (who.int)
  • 1 The idea that the field of molecular biology needed to move from studying isolated biological molecules towards a broad analysis of large sets of biological molecules was underscored with the completion of the human genome project (HGP) in 2001. (bmj.com)
  • We sought to determine whether immune reactivity occurs between anti-SARS-CoV-2 protein antibodies and human tissue antigens, and whether molecular mimicry between COVID-19 viral proteins and human tissues could be the cause. (frontiersin.org)
  • Established disease models have helped unravel the mechanistic underpinnings of pathological phenotypes in Parkinson's disease (PD), the second most common neurodegenerative disorder. (uni-muenchen.de)
  • Or that therapies that prevent, ameliorate, or remove and repair such induced lesions will have similar effects on an animal (or a human being) that has acquired similar-seeming lesions from quite different mechanistic origins? (sens.org)
  • Metabolomics is a large-scale approach to monitoring as many as possible of the compounds involved in cellular processes in a single assay to derive metabolic profiles. (sdsc.edu)
  • Compared with genomics or proteomics, metabolomics reflects changes in phenotype and therefore function. (sdsc.edu)
  • Here we show that co-engagement of CD3 and the complement regulator CD46 in the presence of IL-2 induces a Tr1-specific cytokine phenotype in human CD4 + T cells. (nature.com)
  • Overall, these changes mirror the metabolic alterations found in lung cancer cells, suggesting that very low doses of BD induce metabolic adaptations that may prevent or promote adverse health effects such as tumor formation. (utmb.edu)
  • This review will discuss the metabolic adaptations necessary for T cells to meet changing biochemical needs throughout different stages of differentiation. (elifesciences.org)
  • Many of our inquiries are initiated by multilevel examinations of explanted human heart tissues obtained at the time of transplantation or organ donation to permit insights into both the heterogeneity of myocardial adaptations to disease and identification of dominant mechanisms and responses. (upenn.edu)
  • We applied both human monoclonal anti-SARS-Cov-2 antibodies (spike protein, nucleoprotein) and rabbit polyclonal anti-SARS-Cov-2 antibodies (envelope protein, membrane protein) to 55 different tissue antigens. (frontiersin.org)
  • We also did selective epitope mapping using BLAST and showed similarities and homology between spike, nucleoprotein, and many other SARS-CoV-2 proteins with the human tissue antigens mitochondria M2, F-actin and TPO. (frontiersin.org)
  • In this mechanism, antibodies formed against SARS-CoV-2 would also bind to human tissue proteins leading to autoimmune reactivity. (frontiersin.org)
  • Metabolic markers were measured in fasting serum and ATMs characterized by immunohistology, flow cytometry, and tissue culture studies. (diabetesjournals.org)
  • Tissue culture medium conditioned by CD11c + ATMs, but not CD11c − ATMs or other stromovascular cells, impaired insulin-stimulated glucose uptake by human adipocytes. (diabetesjournals.org)
  • It is being organized as part of a two -day Ontology for Newborn Screening Translational Research (ONSTR) Workshop organized under the auspices of the Department of Human Genetics, Division of Medical Genetics, Emory University and Children ' s Healthcare of Atlanta. (buffalo.edu)
  • Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. (bmj.com)
  • This study compares two different methods of human monocyte isolation for obtaining in vitro dendritic cells (DCs). (jove.com)
  • The overall goal of this study is to compare two different methods of human monocyte isolation for dendritic cell generation in vitro and to characterize the CT11c, CT14 cell surface expression of the resulting monocyte derived populations by imaging flow cytometry. (jove.com)
  • The main advantage of these protocols is that they facilitate the isolation of human monocytes and their differentiation into viable and functional monocyte derived cells. (jove.com)
  • Host genetics and the gut microbiome can both influence metabolic phenotypes. (nih.gov)
  • Effects of Deletion of Mutant Huntingtin in Steroidogenic Factor 1 Neurons on the Psychiatric and Metabolic Phenotype in the BACHD Mouse Model of Huntington Disease. (lu.se)
  • These inquiries involve utilization of several core capabilities in the Prosser and Margulies laboratories including: super-resolution live-cell microscopy, advanced primary human cardiac myocyte mechanical characterization, and an engineered myocardial microtissue model derived from human induced pluripotent stem cells, and murine models currently being developed. (upenn.edu)
  • RTHα manifests with features of hypothyroidism (skeletal dysplasia and growth retardation, neurocognitive impairment, low metabolic rate, reduced intestinal transit) reflecting hormone resistance in TRα-expressing tissues, but associated paradoxically with near-normal circulating TH levels. (endocrine-abstracts.org)
  • While the human intestinal microbiome is dominated by the phyla Bacteroidetes and Firmicutes (representing more than 90% of the total bacterial population) and with Proteobacteria, Verrucomicrobia, Actinobacteria, Fusobacteria, and Cyanobacteria generally being present in minor proportions ( 6 ), the exact composition can vary widely between individuals. (frontiersin.org)
  • In collaboration with a number of PIs at UL, Brian currently receives funding from the Food for Health Ireland 2 (FHI2) programme to investigate the efficacy of nutrient supplementation with proteins mined from milk to provide metabolic outcomes which support Healthy Ageing and Performance Nutrition (HAPN). (ul.ie)
  • With these metabolic conditions highly prevalent in women with PCOS, researchers sought to evaluate gut microbiota diversity in women with the syndrome. (medscape.com)
  • Recent genome-wide association studies (GWAS) implicate the CYP17A1 locus in human blood pressure regulation. (endocrine-abstracts.org)
  • The women with PCOM nevertheless showed an "intermediate phenotype" of gut microbiome alpha diversity, "suggesting that further studies are warranted to determine whether the gut microbiome of women with PCOM is significantly altered compared to healthy women," the authors say. (medscape.com)
  • And if hyperandrogenism drives the microbial composition of the gut, "it would be interesting to determine if treatment of PCOS with androgen antagonists or oral contraceptives results in recovery of the gut microbiome and improvement of the PCOS metabolic phenotype," they note. (medscape.com)
  • Thus, our results can establish the potential risk for autoimmunity and multi-system disorders with COVID-19 that may come from cross-reactivity between our own human tissues and this dreaded virus, and thus ensure that the badly-needed vaccines and treatments being developed for it are truly safe to use against this disease. (frontiersin.org)
  • IKKβ signaling mediates metabolic changes in the hypothalamus of a Huntington's disease mouse model. (lu.se)
  • 0.05) with case-control status, from four selected annotation categories or from loci reported to associate with metabolic traits. (lu.se)
  • Based on our study, coding polymorphisms with MAF above 1% do not seem to have particularly high effect sizes on the measured metabolic traits. (lu.se)
  • Following the initial remarkable success of antibiotics, the emergence and spread of human pathogenic bacteria resistant to antibiotics has become a major phenomenon in the past fifty years. (europa.eu)
  • The emergence and spread of human pathogenic bacteria resistant to antibiotics has become a major problem in the past fifty years. (europa.eu)
  • The pathogenic condition has various phenotypes, including fulminant infectious mononucleosis, dysgammaglobulinemia and malignant B cell lymphomas [Purtilo et al. (lu.se)
  • The conclusions, findings, and opinions expressed by authors contributing to this journal do not necessarily reflect the official position of the U.S. Department of Health and Human Services, the Public Health Service, the Centers for Disease Control and Prevention, or the authors' affiliated institutions. (cdc.gov)
  • The following presentation contains content made by external presenters and not by the Centers for Disease Control and Prevention or the Department of Health and Human Services. (cdc.gov)
  • 1979. Chemicals and industrial processes associated with cancer in humans. (cdc.gov)
  • Rapid proliferation and acquisition of effector function are demanding processes that require precise metabolic re-wiring. (elifesciences.org)
  • However, metabolic processes underlying the emergence of HSCs from HE cells remain unclear. (lu.se)
  • The study of humans carrying dominant negative mutations in PPAR gamma has contributed significantly to our understanding of its role in human physiology. (endocrine-abstracts.org)
  • 1998], and mutations in the STAT5B SH2 domain in humans lead to growth hormone insensitivity with immunodeficiency [Kofoed et al. (lu.se)
  • Pseudogene accumulation and metabolic acclimation of Salmonella enterica serotype Typhimurium. (cdc.gov)
  • These variants were genotyped in 15,989 Danes to search for association with 12 metabolic phenotypes (stage 2). (lu.se)
  • Even though more than 100 million DNA variants have been identified, human beings share a genomic sequence, which is more than 99% identical. (humankinetics.com)
  • The presentations spanned basic science research, deciphering disease signatures using the latest technologies, methods of studying the human immune system directly, taking a systems immunology view, and providing the investment ecosystem to support and realize the research. (stanford.edu)
  • These monocytes isolation protocols can contribute to the development of reliable methods for the purification of human dendritic cells for research and clinical applications. (jove.com)
  • Alström syndrome (AS) is characterised by metabolic deficits, retinal dystrophy, sensorineural hearing loss, dilated cardiomyopathy and multi-organ fibrosis. (springer.com)
  • The overall aim of the research in Integrative Physiology is to discover and validate targets important in metabolic disease, for example glucose homeostasis and Type 2 diabetes mellitus. (ki.se)
  • How, in other words, do researchers know that the lesions and physiological and metabolic abnormalities that their experimental designs impose are actually equivalent to the superficially-similar phenotype of a "naturally"-aging animal? (sens.org)
  • 1,3-Butadiene (BD) exposure is known to cause numerous adverse health effects, including cancer, in animals and humans. (utmb.edu)
  • Public health officials and others concerned with appropriate actions to take at hazardous waste sites may want information on levels of exposure associated with more subtle effects in humans or animals (LOAELs) or exposure levels below which no adverse effects (NOAELs) have been observed. (cdc.gov)
  • In humans, low protein intake by women in late but intrauterine exposure was (20). (cdc.gov)
  • Brian's research interests are primarily focused on the plasticity and metabolic adaptation of skeletal muscle in response to exercise and how this can be modified through interaction with nutrition. (ul.ie)
  • In this study, we tried to investigate the role of Sirt3 in carcinogenesis and to explore its involvement in metabolic alteration. (bvsalud.org)
  • I currently teach medical students during their third semester, a course focusing on human physiology. (lu.se)
  • Yet, the mouse shares a similar developmental trajectory to the human heart and a comparable four-chamber morphology that greatly enhances its translational value as a model organism, despite the substantial differences in size (Krishnan et al. (springer.com)
  • Here we focus on the role of autophagy in pancreatic beta cells during metabolic stress and type 2 diabetes. (lu.se)
  • Here we describe the 3.2 Å cryo-EM structure of human DEC-205, thereby illuminating the structure of the mannose receptor protein family. (uci.edu)
  • Figure 1: CD3/CD46 stimulation induces IL-10 production in human peripheral blood CD4 + T lymphocytes. (nature.com)
  • Platelets were isolated for phenotype analysis, and DNA was isolated from lymphocytes for genotype determination. (aacrjournals.org)
  • To illustrate the current status of the application of OMICS in OEH research, we will provide examples of studies that used OMICS technologies to investigate human health effects of two well-known toxicants, benzene and arsenic. (bmj.com)
  • LOAELs or NOAELs should also help in determining whether or not the effects vary with dose and/or duration, and place into perspective the possible significance of these effects to human health. (cdc.gov)
  • These CD3/CD46-stimulated IL-10-producing CD4 + cells proliferate strongly, suppress activation of bystander T cells and acquire a memory phenotype. (nature.com)
  • Macrophages, which derive from circulating monocytes and have recently been recognized as important thyroid hormone target cells, are innate immune cells that are capable of adopting a wide range of phenotypes. (endocrine-abstracts.org)
  • In both in vitro and in vivo settings, steering pyruvate use toward glycolysis or OXPHOS differentially skews the hematopoietic output of HE cells toward either an erythroid fate with primitive phenotype, or a definitive lymphoid fate, respectively. (lu.se)
  • Mitochondria are highly dynamic organelles that provide essential metabolic functions and represent the major bioenergetic hub of eukaryotic cell. (hindawi.com)
  • Glucocorticoids are widely prescribed for their anti-inflammatory properties, but have a significant adverse effect profile, leading to a Cushingoid phenotype. (endocrine-abstracts.org)
  • IARC Monographs on the evaluation of the carcinogenic risk of chemicals to humans. (cdc.gov)
  • The development of the human blood-CSF-brain barrier. (cdc.gov)