• In order to identify genes that may modify disease onset and progression, genome-wide association and gene expression studies have been performed 12 , 13 . (nature.com)
  • The large number of genes and the diversity of processes involved in the progression of neurological diseases in general, and HD in specific, emphasizes the need for comprehensive approaches in additional to studies of individual genes 14 . (nature.com)
  • The candidate gene approach to conducting genetic association studies focuses on associations between genetic variation within pre-specified genes of interest, and phenotypes or disease states. (wikipedia.org)
  • Candidate genes are most often selected for study based on a priori knowledge of the gene's biological functional impact on the trait or disease in question. (wikipedia.org)
  • The failure of candidate gene studies to shed light on the specific genes underlying such traits has been ascribed to insufficient statistical power, low prior probability that scientists can correctly guess a specific allele within a specific gene that is related to a trait, poor methodological practices, and data dredging. (wikipedia.org)
  • Gene is one such database that allows access to information about phenotypes, pathways, and variations of many genes across species. (wikipedia.org)
  • Lynx provides two sophisticated prioritization tools, Cheetoh and PINTA, to help users select candidate genes from the whole genome based on the relevance to input gene list which can be a list of known genes contributing to certain disease or phenotype, or differentially expressed gene from next-generation RNA sequencing technology. (wikipedia.org)
  • These methods studied genetic linkage and positional cloning through the use of a genetic screen, and were effective at identifying relative risk genes in Mendelian diseases. (wikipedia.org)
  • Our results suggest translation disrupting mechanisms relating uORF variation to reduced protein expression, and demonstrate that translation at uORFs is genetically constrained in 50% of human genes. (nature.com)
  • Specific uORFs are known to control protein expression by tuning translation rates of downstream protein-coding sequences, and potential uORFs have been identified in ~50% of all human protein-coding genes 1 , 2 . (nature.com)
  • Several studies have compared various features of heritable disease genes with other so called non-disease genes, but they have yielded some conflicting results. (biomedcentral.com)
  • A potential problem in those studies is that the non-disease genes contained a large number of essential genes - genes which are indispensable for humans to survive and reproduce. (biomedcentral.com)
  • Here we perform a comparative study on the features of human essential, disease, and other genes. (biomedcentral.com)
  • In the absence of a set of well defined human essential genes, we consider a set of 1,789 ubiquitously expressed human genes (UEHGs), also known as housekeeping genes, as an approximation. (biomedcentral.com)
  • Our findings systematically confirm that disease genes have an intermediate essentiality which is less than housekeeping genes but greater than other human genes. (biomedcentral.com)
  • The human genome may contain thousands of essential genes having features which differ significantly from disease and other genes. (biomedcentral.com)
  • Identification of novel genes associated with human diseases is among the most critical tasks in medical research. (biomedcentral.com)
  • One common problem with these studies is that human essential genes were ignored and simply grouped together with other non-disease genes. (biomedcentral.com)
  • Thus, it is beneficial to separate human essential genes from other non-disease genes before comparisons are made. (biomedcentral.com)
  • Although it is almost certain that the human genome also contains hundreds to thousands of essential genes, it's impractical to experimentally determine them as in S. cerevisiae or C. elegans . (biomedcentral.com)
  • The absence of a set of well-defined human essential genes poses a challenge on studying them and urges for alternative solutions. (biomedcentral.com)
  • Housekeeping genes have been studied by many researchers and some interesting observations have been reported. (biomedcentral.com)
  • Based on the unique properties of the ubiquitously expressed human genes (UEHGs), we believe that they are suitable candidates for essential genes. (biomedcentral.com)
  • In this study, we consider a set of 1,789 ubiquitously expressed human genes (UEHGs) as an approximation for essential genes. (biomedcentral.com)
  • Expression profile of differentially-regulated genes during progression of androgen-independent growth in human prostate cancer cells. (nih.gov)
  • Recently strong candidate genes for CM in dogs and humans and SM in dogs were identified. (surrey.ac.uk)
  • As a scientist she has been involved in mapping the human genome and identifying genes and mutations, which give rise to heritable disorders. (bepress.com)
  • To identify mutations in COL2A1 and COL11A1 genes and to examine the genotype-phenotype correlation in a cohort of Chinese patients with Stickler syndrome. (molvis.org)
  • COL2A1 and COL11A1 are common candidate genes for Stickler syndrome, and both are related to the form of Stickler syndrome with an obvious ocular phenotype. (molvis.org)
  • These genes were selected based on their role in asthmatic inflammatory processes and History previously reported associations with asthma phenotypes. (cdc.gov)
  • Of these mediators, cytokines play a single nucleotide polymorphisms (SNP) in pro-inflammatory cytokine genes and asthma phenotypes (Che et al. (cdc.gov)
  • [ 10 ] Correlation of these mutations with the associated piebald phenotypes has led to the recognition of a hierarchy of 3 classes of mutations that result in a graded series of piebald phenotypes. (medscape.com)
  • Analysis of the genotype-phenotype correlation showed that the early onset of high myopia with vitreous abnormalities may serve as a key indicator of Stickler syndrome, while the existence of mandibular protrusion in pediatric patients may be an efficient indicator for the absence of mutations in COL2A1 and COL11A1 . (molvis.org)
  • Factor VII deficiency: a novel missense variant and genotype-phenotype correlation in patients from Southern Italy. (cdc.gov)
  • How and why do we study the genetics of addiction? (jax.org)
  • For example, the UK Biobank , a leading cohort study of half a million persons, has collected genomic, clinical and risk factor information and has contributed to numerous discoveries in human genetics. (cdc.gov)
  • At Olin she studies the molecular biology and genetics of viruses of mycobacteria. (bepress.com)
  • We work in the interface between human genetics, bioinformatics, and hematology/immunology. (lu.se)
  • The transformed cells induce tumorigenesis in mice and exhibit an apoptosis resistant phenotype characteristic of cancer cells. (cdc.gov)
  • There is also a Lewis-negative phenotype resulting from various mutations of the FUT3 gene ( 7 ). (cdc.gov)
  • In this study, three novel and two known mutations in the COL2A1 gene were identified in six of 16 Chinese patients with Stickler syndrome. (molvis.org)
  • Advances in sequencing technologies may allow for more efficient diagnosis of disease by combining analyses of phenotypes and gene mutations. (molvis.org)
  • In the autosomal dominant form, mutations in the RNA component of telomerase ( TERC ) or telomerase reverse transcriptase ( TERT ) are responsible for disease phenotype. (medscape.com)
  • Homozygous autosomal recessive mutations in RTEL1 lead to similar phenotypes that parallel with Hoyeraal-Hreidarsson (HH) syndrome, a severe variant of DKC characterized by cerebellar hypoplasia, bone marrow failure, intrauterine growth restriction and immunodeficiency. (medscape.com)
  • KIT mutations in the vicinity of codon 620 lead to the usual phenotype of static piebaldism. (medscape.com)
  • Mutations of the KIT proto-oncogene produce variations in phenotype in relation to the site of the KIT gene mutation. (medscape.com)
  • The neuropeptide cocaine and amphetamine regulated transcript (CART) was shown to induce anxiety-like behavior in rodents, and mutations in the human CART gene are associated with depression and anxiety. (lu.se)
  • It allows users to obtain, visualize and prioritize molecular interaction networks using HD-relevant gene expression, phenotypic and other types of data obtained from human samples or model organisms. (nature.com)
  • The rationale behind focusing on allelic variation in specific, biologically relevant regions of the genome is that certain alleles within a gene may directly impact the function of the gene in question and lead to variation in the phenotype or disease state being investigated. (wikipedia.org)
  • This approach often uses the case-control study design to try to answer the question, "Is one allele of a candidate gene more frequently seen in subjects with the disease than in subjects without the disease? (wikipedia.org)
  • Genome-wide association studies (GWAS) and quantitative trait locus (QTL) mapping examine common variation across the entire genome, and as such can detect a new region of interest that is in or near a potential candidate gene. (wikipedia.org)
  • Approximately 20% of the white population is homozygous for a recessive point mutation of the FUT2 gene, which leads to the absence of A, B, and H antigen expression, also called the nonsecretor phenotype. (cdc.gov)
  • Of note, the HBGA binding profile is P genotype-dependent ( 4 ), and rotavirus infection correlates with the secretor and partial secretor phenotype (i.e., with active FUT2 gene status) ( 5 , 6 , 9 ). (cdc.gov)
  • 3) studies of gene-environment interactions in shaping social-emotional development. (upenn.edu)
  • Using these variants, we map and validate gene-disease associations in two independent biobanks containing exome sequencing from 10,900 and 32,268 individuals, respectively, and elucidate their impact on protein expression in human cells. (nature.com)
  • Remarkable progress in science and technology has led to the development of powerful tools for genome sequencing and editing increasing ability to study gene expression and function at multiple levels from cells to populations. (cdc.gov)
  • This is the first study in a cohort of Chinese patients with Stickler syndrome, and the results expand the mutation spectrum of the COL2A1 gene. (molvis.org)
  • Analysis of Phenotype and L12R Mutation in Signal Peptide and 3' Non-translation Region c11814-insAA Mutation of F7 Gene in a Family with Hereditary Coagulation Factor VII Deficiency]. (cdc.gov)
  • By means of DNA sequencing of a large sample collection of the pathogen from across the United States, we studied the gene for the bacterium's highly diverse OspC protein, protective immunity against which develops in animals. (cdc.gov)
  • The altered secretory phenotype of infected astrocytes then impairs neuronal viability. (hindustantimes.com)
  • Moreover, human astrocyte infection elicits a secretory phenotype that reduces neuronal viability. (hindustantimes.com)
  • Because senescent cells accumulate with aging and contribute to multiple co-morbidities, the non-skeletal actions of zoledronate could be due to senolytic (killing of senescent cells) or senomorphic (inhibition of the secretion of the senescence-associated secretory phenotype [SASP]) actions. (sens.org)
  • In the present study, we compared the clinical and molecular findings of CACP syndrome in 35 patients from 11 unrelated families. (nih.gov)
  • Final Report Summary - ALPHA-MAN (Clinical development of Enzyme Replacement Therapy in alpha-Mannosidosis patients using recombinant human enzyme. (europa.eu)
  • In line with our plans we have been able to demonstrate the safety and clinical efficacy of rhLAMAN as an effective therapeutic agent for treatment of the human disease alpha-Mannosidosis in clinical trial Phases 1 and 2. (europa.eu)
  • Within the clinical trials, the dose levels based on the results in the non-clinical tests, were confirmed and a minimum effective dose in humans established. (europa.eu)
  • A clinical phase 3 study was initiated and will be finalized by June 2014. (europa.eu)
  • In non-clinical studies we also found the optimal rhLAMAN dose for a maximal correction of visceral and central nervous system pathology following injection in immune-tolerant alpha Mannosidosis mice. (europa.eu)
  • 4 Clinical Trial Service Unit and Epidemiological Studies Unit (CTSU), Nuffield Department of Population Health, University of Oxford, Richard Doll Building, Old Road Campus, Roosevelt Drive, Oxford OX3 7LF, UK. (bmj.com)
  • Coupled with clinical, environmental and social data, large population studies and databases (biobanks) will enable interpretation of genomic and other information in predicting disease risks and response to treatment. (cdc.gov)
  • Ideally, genomic markers discovered in population studies would be evaluated for their clinical utility in improving health. (cdc.gov)
  • Waisman Biomanufacturing's mission is to advance novel vaccines and therapeutics into early human clinical trials," added Carl Ross, managing director of Waisman Biomanufacturing, part of the Waisman Center. (genengnews.com)
  • In this review we recorded several representative in vitro and in vivo studies performed in culture cell lines, in animal or clinical trials, indicating that the regular intake of EVOO is associated with enhanced neuroprotective, antioxidant, anti-inflammatory, anti-atherosclerotic, anti-cancer and anti-microbial properties. (researchgate.net)
  • Nevertheless, the heterogeneous clinical phenotype may present a challenge, particularly for patients with only ocular phenotypes. (molvis.org)
  • This is in contrast to genome-wide association studies (GWAS), which is a hypothesis-free approach that scans the entire genome for associations between common genetic variants (typically SNPs) and traits of interest. (wikipedia.org)
  • The human genome has an extremely complex tissue expression profile. (biomedcentral.com)
  • Studies of 910 individuals of African descent showed that at least 300 million DNA variants (10%) are not represented in the human reference genome. (cdc.gov)
  • As a result of thousands of genome-wide association studies (GWAS), we know now that common sequence variants contribute to complex human health phenotypes (e.g., blood pressure and lipid levels), and common diseases (e.g. cancer and heart disease). (cdc.gov)
  • In this present study, summary-level data for ALS (20,806 cases and 59,804 controls) was obtained from large analyses of genome-wide association studies. (frontiersin.org)
  • As all analyses were performed using publicly available genome-wide association study (GWAS) summary data, no additional ethical permission was required from institutional research ethics committees. (frontiersin.org)
  • Human genome variation 2017 11 4 17048. (cdc.gov)
  • In our genome-wide association studies ( GWAS ) we combine unique sample materials with sets of advanced phenotypes. (lu.se)
  • We need innovative approaches to understand complex traits, rather than simply expanding the use of GWAS in studies of larger populations. (cdc.gov)
  • After diagnosing this rare progressive myoclonic epilepsy in a canine patient in 2001, she links with Dr. Berge Minassian to study the mutation causing the disease. (surrey.ac.uk)
  • The successful outcome was the first description of a mutation causing canine epilepsy and the first example of a tandem repeat expansion outside of humans. (surrey.ac.uk)
  • We incorporate diverse approaches in experimental evolution, mathematics, systems microbiology, engineering and instrumentation to understand how interactions between cells shape bacterial community behaviours, the value of environmental sensing and phenotypic variation in fluctuating environments, and how phenotypes broadly respond to mutation. (exeter.ac.uk)
  • The obese brain as a heritable phenotype: A combined morphometry and twin study. (mpg.de)
  • Our results confirm human genetic studies indicating CART as a neurobiological correlate of depression and anxiety, and suggest that its differential regulation in specific brain regions may play a role for the behavioral phenotypes. (lu.se)
  • In such a scenario, the gut microbes are essentially "starved" and turn to alternative pathways to survive, often at the detriment of the human host. (medscape.com)
  • and methods and populations for genetic studies of addiction in model organisms. (jax.org)
  • How do we define and characterize addiction in humans and model organisms? (jax.org)
  • Roux-en-Y gastric bypass surgery progressively alters radiologic measures of hypothalamic inflammation in obese patients. (mpg.de)
  • Invasive and non-invasive stimulation of the obese human brain. (mpg.de)
  • Gastric-bypass surgery induced widespread neural plasticity of the obese human brain. (mpg.de)
  • When it comes to the causal relationship between the gut microbiome and obesity, the strongest available evidence has emerged from rodent models where it has been demonstrated that fecal microbiota transplantation can transfer the obese phenotype and that the gut microbiome plays a fundamental role in harvesting energy from the diet. (medscape.com)
  • Clinicians are well versed in the strengths and limitations of such trials and have an increasingly sophisticated understanding of traditional analyses of observational studies. (bmj.com)
  • however, genetic linkage analyses in 2 of these families implied linkage of the piebald phenotype to KIT . (medscape.com)
  • 1 6 7 8 It is increasingly being used because it can overcome a major limitation of evidence from observational studies: unmeasured confounding. (bmj.com)
  • One source of evidence is the association between alcohol and blood pressure in observational studies. (bmj.com)
  • Since data on the association of CRP levels with ALS are often derived from observational studies, which could be subject to potential confounding bias and reverse causes, such as chronic diseases, cardiovascular risk factors and so on, it is unclear whether CRP levels are a risk factor for ALS. (frontiersin.org)
  • Furthermore, it is emerged the demand of more randomized controlled or longitudinal observational studies to be performed to confirm the efficacy of the beneficial health effect of EVOO. (researchgate.net)
  • However, these methods are not as beneficial when studying complex diseases for several reasons: Complex diseases tend to vary in both age of onset and severity. (wikipedia.org)
  • For most human diseases, variable expressivity of the disease phenotype is the norm. (wikipedia.org)
  • Implementing large scale studies across different populations could substantially enhance efforts to uncover the role of genetic factors in various diseases. (cdc.gov)
  • Prof Clare Rusbridge and Dr Penny Knowler have had a collaboration with Dr Kibar's group of the University of Montreal since 2005 with an aim of identifying genetic markers for canine CMSM and to translate the findings into genomic studies on humans. (surrey.ac.uk)
  • OA significantly inhibited the expression of CD163, one of the phenotype markers of M2 macrophages, as well as suppressed the secretion of IL-10, one of the anti-inflammatory cytokines preferentially produced by M2 macrophages, thus suggesting that OA suppresses the M2 polarization of macrophages. (spandidos-publications.com)
  • Recent findings showed that human blood group antigens (HBGAs) might be involved in rotavirus attachment to intestinal cells ( 3 , 4 , 5 , 6 ). (cdc.gov)
  • However, in some studies, no association has been observed between HBGAs from blood cells ( 10 ), including Lewis antigens ( 11 ), and rotavirus infection. (cdc.gov)
  • A study shows how SARS-COV-2 infects brain cells called astrocytes, causing structural changes in the brain. (hindustantimes.com)
  • Defining feature of this disease is the failure of beta cells, which has been studied extensively over the past decades mainly using enzymatically isolated primary islet cells as a model system. (tu-dresden.de)
  • Thus, it has become possible to apply these technologies to surgical specimens as experimental models to study beta cells in situ, and thereby in a context that more faithfully represent their state in vivo . (tu-dresden.de)
  • To test this, we first performed in vitro senescence assays using human lung fibroblasts and DNA repair-deficient mouse embryonic fibroblasts, which demonstrated that zoledronate killed senescent cells with minimal effects on non-senescent cells. (sens.org)
  • Heat's vaccine will use a genetically engineered combination of a common protein already found in human cells (gp96), along with viral proteins, to stimulate a response from the body's T cells. (genengnews.com)
  • Here, removal of intact α 6 protein from cerebellar granule cells allowed perturbations in other subunit levels to be studied. (jneurosci.org)
  • Furthermore, OA inhibited the proliferation of U373 human glioblastoma cells, and the activation of signal transducer and activator of transcription-3 (STAT3) in both human macrophages and glioblastoma cells. (spandidos-publications.com)
  • Chromosome 1 is the largest human chromosome, spanning about 249 million DNA building blocks (base pairs) and representing approximately 8 percent of the total DNA in cells. (medlineplus.gov)
  • Carbon nanotube s induce malignant transformation and tumorigenesis of human lung epithelial cells. (cdc.gov)
  • Here, we show that chronic exposure to single-walled carbon nanotube s causes malignant transformation of human lung epithelial cells. (cdc.gov)
  • Cell replacement using human embryonic stem cells (hESCs) derivatives may offer new therapeutic opportunities to replace degenerated neurons and repair damaged circuits. (lu.se)
  • Conclusions: The data support the long-term therapeutic potential of ESC-derived human striatal progenitor grafts for the replacement of degenerated striatal neurons in HD and suggest that EE can effectively accelerate the maturation and promote the integration of human striatal cells. (lu.se)
  • SARS-CoV-2 specific plasma cells acquire long-lived phenotypes in human bone marrow. (bvsalud.org)
  • SARS-CoV-2 specific antibody-secreting plasma cells (PC) mediating specific humoral immunity have been identified in the human bone marrow (BM) after COVID-19 or vaccination against SARS-CoV-2 . (bvsalud.org)
  • However, it remained unclear whether or not they acquire phenotypes of human memory plasma cells . (bvsalud.org)
  • SARS-CoV-2 -specific human bone marrow plasma cells (BMPC) were characterised by tetramer-based, antigen -specific flow cytometry and FluoroSpot assay. (bvsalud.org)
  • Of note, one-fifth of SARS-CoV-2 -specific BMPC showed the phenotype of memory plasma cells , i.e., downregulated CD19 and present or absent CD45 expression. (bvsalud.org)
  • We illustrated several HDNetDB functionalities through a case study and identified proteins that constitute potential cross-talk between HD and the unfolded protein response (UPR). (nature.com)
  • High myopia was the most frequent initial ocular phenotype of Stickler syndrome. (molvis.org)
  • The phenotype of Stickler syndrome is complicated and develops over a lifetime. (molvis.org)
  • According to the locus heterogeneity and differences in the vitreous phenotype, Stickler syndrome is primarily classified into six subtypes. (molvis.org)
  • The study results in cognitive Impairments and Neuropsychiatric Symptoms in Convalescent COVID-19 Patients Correlate with Altered Cerebral Cortical Thickness. (hindustantimes.com)
  • Increasingly, logistic regression methods for genetic association studies of binary phenotypes must be able to accommodate data sparsity, which arises from unbalanced case-control ratios and/or rare genetic variants. (karger.com)
  • To assess potential risk factors, CDC, in collaboration with French and British public health authorities, conducted a retrospective case-control study using data reported to national surveillance systems in the United States, France, and the United Kingdom. (cdc.gov)
  • These data point to the need for additional studies testing zoledronate and/or other bisphosphonate derivatives for senotherapeutic efficacy. (sens.org)
  • Animal modeling and human mechanistic data are summarized to support the view that vitamin D probably influences thymic negative selection, effector Th1 and Th17 pathogenesis and responsiveness to extrinsic cell death signals, FoxP3 + CD4 + T-regulatory cell and CD4 + T-regulatory cell type 1 (Tr1) cell functions, and a Th1-Tr1 switch. (frontiersin.org)
  • Prevalence of asthma by industry in the US population: a study of 2001 NHIS data. (cdc.gov)
  • Molecular subtypes of small cell lung cancer: a synthesis of human and mouse model data. (cancerindex.org)
  • In humans, most data have been associational in nature, with studies demonstrating different microbial signatures in people with obesity and in response to weight loss. (medscape.com)
  • However, most GEP studies have typically been performed on whole tissue samples, containing varying degrees of tumor cell content, which results in uncertainties in data analysis. (lu.se)
  • Our data indicate the establishment of phenotypically diverse SARS-CoV-2 -specific PC in the human BM after basic mRNA immunization , including the formation of memory phenotypes . (bvsalud.org)
  • Digital phenotyping refers to the in-situ quantification of the human phenotype using data from personal digital devices. (bvsalud.org)
  • Dr Heidi Mattock and use genetic data to identify the etiology of human canceRs. (who.int)
  • Many epidemiological methods attempt to correct for, or minimise, observed differences in confounders between study participants. (bmj.com)
  • Using genetic variation from 71,702 human genomes, we assess patterns of selection in translated upstream open reading frames (uORFs) in 5'UTRs. (nature.com)
  • Here we use translated uORFs mapped through ribosome-profiling experiments and a deep catalog of human genetic variation to characterize patterns of selection acting on single nucleotide variants (SNVs) in uORF sequences. (nature.com)
  • We study how genetic variation influences blood cell formation and blood cancer risk. (lu.se)
  • Human and porcine rotaviruses could specifically interact with H antigen type 1, Lewis b antigen, or Lewis a antigen through their viral protein (VP) 8 and VP5 during the attachment phase ( 3 , 4 , 8 ). (cdc.gov)
  • females collected were tested for the presence of two phenotypes of P. vivax (PVK210 and PVK247) antigen by enzyme-linked immunosorbent assay (ELISA). (who.int)
  • Since pharmaceutical interest in this disease is low, two EU-supported projects (EURAMAN and HUE-MAN) within the 5th and 6th framework program, respectively have worked towards developing the recombinant human enzyme (rhLAMAN) as a therapeutic agent for patients suffering from alpha-Mannosidosis. (europa.eu)
  • New studies will need to focus on enhancers and transcription factors, as well as genetic regulatory networks, and how changes in these networks can impact health and disease. (cdc.gov)
  • This has led to better understanding of the disease in humans. (surrey.ac.uk)
  • Several studies have evaluated the role of CRP as a prognostic marker in ALS and the relationship between CRP and disease progression/survival rate. (frontiersin.org)
  • High numbers of future deaths in the UK from the human form [variant Creutzfeldt-Jakob disease of mad cow disease (bovine spongiform encephalopathy)] are unlikely, researchers have said. (rense.com)
  • The ability to control the direction of filamentous growth in order to penetrate relevant substrates is fundamental across most environmental fungi but, in the context of human disease, the ensuing tissue damage leads to hyper-inflammation, organ failure and mortality. (exeter.ac.uk)
  • Evidence also suggests that a key driver of gut microbiome dysfunction, and potentially of human disease, is the scarcity of dietary substrates reaching the colon when people consume diets lacking in fiber and resistant starch (very common in Western countries). (medscape.com)
  • A related, often sympatric species is Borrelia bissettii , but this species has not been associated with human disease. (cdc.gov)
  • Human HTT codes for a large protein of 3144 amino acids, which is ubiquitously expressed in various tissues and is present in several sub-cellular locations. (nature.com)
  • Snap freezing of the tissue directly after explantation prevents further changes of the biological material, thereby allowing subsequently downstream measurement of cellular parameters, such as mRNA or protein levels in a state that is almost identical to that inside the human body. (tu-dresden.de)
  • Human ribosomal protein S16 inhibites excision of the first intron from its own]. (nih.gov)
  • Binding of human ribosomal protein S16 with the 18S rRNA fragment 1203-1236/1521-1698]. (nih.gov)
  • Daniel Martins-de-Souza and colleagues used MRI to compare brain structure in 81 study participants recovering from a mild COVID-19 infection and 81 healthy individuals. (hindustantimes.com)
  • The study shows the spectrum of cerebral impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, ranging from long-term alterations in mildly infected individuals (orbitofrontal cortical atrophy, neurocognitive impairment, excessive fatigue and anxiety symptoms) to severe acute damage confirmed in brain tissue samples extracted from the orbitofrontal region (via endonasal transethmoidal access) from individuals who died of COVID-19. (hindustantimes.com)
  • Supporting the hypothesis of astrocyte infection, neural stem cell-derived human astrocytes in vitro are susceptible to SARS-CoV-2 infection through a noncanonical mechanism that involves spike-NRP1 interaction. (hindustantimes.com)
  • Health-care workers (HCWs) are potentially at risk for human immunodeficiency virus (HIV) infection through occupational exposures to blood. (cdc.gov)
  • Although prospective studies indicate that the estimated risk for HIV infection after a percutaneous exposure to HIV-infected blood is approximately 0.3% (1,2), factors that influence this risk have not been determined. (cdc.gov)
  • These recommendations update the interim guidelines (1) developed by the U.S. Public Health Service for the use of zidovudine (ZDV) to reduce the risk for perinatal transmission of human immunodeficiency virus (HIV) infection. (cdc.gov)
  • As with all epidemiological approaches, findings from Mendelian randomisation studies depend on specific assumptions. (bmj.com)
  • Indeed, numerous epidemiological studies have proved that the consumption of olive oil was associated with better overall health. (researchgate.net)
  • The use of ELISA is recommended in future epidemiological studies of human malaria. (who.int)
  • On June 6, 1994, the U.S. Public Health Service convened a workshop in Bethesda, Maryland, to develop recommendations for the use of zidovudine to reduce the risk for perinatal transmission of human immunodeficiency virus (HIV). (cdc.gov)
  • Worldwide, perinatal (i.e., mother-to-infant) transmission accounts for most human immunodeficiency virus (HIV) infections among children. (cdc.gov)
  • Results: Human striatal progenitors survived up to 6 months after transplantation and showed morphological and neurochemical features typical of human MSNs. (lu.se)
  • In humans, LAMAN deficiency results in progressive mental retardation, skeletal changes, hearing loss and recurrent infections and many patients die during early childhood. (europa.eu)
  • Dr Knowler's doctoral thesis investigated the MRI morphometric traits and interpretation of study results. (surrey.ac.uk)
  • A new review article published in "Molecular Metabolism" explains how this platform may represent a paradigmatic shift for the study of human islets and diabetes research. (tu-dresden.de)
  • Given the key role of the gut microbiome in human health, and particularly in energy metabolism, it makes sense that the evidence has converged to reveal a relationship between the gut microbiome and obesity. (medscape.com)
  • With this study, we contribute to the catalog of CACP causing variants. (nih.gov)
  • These variants were genotyped in 15,989 Danes to search for association with 12 metabolic phenotypes (stage 2). (lu.se)
  • The significance of the study denotes the neurological symptoms that are among the most prevalent of the extrapulmonary complications of COVID-19, affecting more than 30 per cent of patients. (hindustantimes.com)
  • Scientists of the Paul Langerhans Institute Dresden developed a new approach to isolate islets from snap frozen surgical specimens donated by metabolically phenotyped pancreatectomized patients. (tu-dresden.de)
  • Soon we hope to establish a preventative treatment program that will be translated for human patients. (surrey.ac.uk)
  • Tumor-associated macrophages (TAMs) polarized to the M2 phenotype promote tumor cell proliferation and are associated with a poor prognosis in patients with high grade glioma. (spandidos-publications.com)
  • Breastfeeding and asthma in young children: findings from a population-based study. (cdc.gov)
  • Putative receptors that are responsible for rhLAMAN uptake into the brain across the Blood Brain Barrier were investigated and we were able to study the outcome of long-term ERT on the neuropathology and associated behavioural deficits observed in immune-tolerant alpha-Mannosidosis mice. (europa.eu)
  • 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)
  • Wild-Type (WT) and Tabby (Ta) mice were used to compare effects on a normal phenotype and on a mutant model of ectodermal dysplasia (ED). After 21 days, no effect on bone neoformation was observed in Ta treated lesion (4% neoformation compared to 13% in the control lesion). (hindawi.com)
  • 1%. In stage 2 we identified 51 potential associations with one or more of eight metabolic phenotypes covered by 45 unique polymorphisms. (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)
  • In this study, single nucleotide polymorphisms (SNPs) related to CRP levels were used as instrumental variables. (frontiersin.org)
  • In collaboration with the Medical Imaging Group at the University of Surrey (HeadSpace project) we are applying a machine learning approach to the significant MRI morphometric traits to establish a simple objective measure that could be applied to future genetic and other studies and develop a medical image analysis software that can be used to screen susceptible breeding dogs and be translated into human studies. (surrey.ac.uk)
  • C.P. tion stage, why much more detailed molecular analysis is contributed to the design of the study, discussions on statistical analysis of called for [2]. (lu.se)
  • In this study, we provide evidence that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is found in the human brain, where it infects astrocytes and to a lesser extent, neurons. (hindustantimes.com)
  • 1998. Genetic and environmental risk factors for asthma: a cotwin-control study. (cdc.gov)
  • H)-1 and TH2 cytokines have been demonstrated in the airways of subjects with different asthma phenotypes, reported causes of occupational asthma in the work-place. (cdc.gov)
  • article{56523986-819a-47dd-8322-bd05ce5e7b7d, abstract = {{Human complex metabolic traits are in part regulated by genetic determinants. (lu.se)
  • A deeper dive into precisely how microbes and diet interact to affect human weight regulation is key to developing precision nutrition approaches. (medscape.com)
  • We evaluated the statistical properties of our proposed two-step method and compared its performance to other shrinkage methods by a simulation study. (karger.com)
  • Although numerous guides exist for conducting 1 2 3 and reporting Mendelian randomisation studies and related methods, 4 5 here we focus on helping clinicians and practitioners read and interpret them. (bmj.com)
  • These methods can give useful evidence about causal relations if we measure enough confounders so that, after adjustment or matching, study participants who consume different amounts of alcohol are otherwise comparable. (bmj.com)
  • The study was approved by the Ethics Committee of the Fattouma Bourguiba University Hospital in Monastir, and informed consent was obtained from the parents of the 114 study participants. (cdc.gov)
  • This study involved 1,919 Chinese undergraduate students from 11 universities in eight Chinese cities with an online self-administered survey that included demographic information, IoU, FoC, depression, and FCA completed by all participants. (researchgate.net)
  • Nutritional redundancy in the human diet and its application in phenotype association studies. (harvard.edu)
  • The objective of this study was to investigate the role of depression and fear of COVID-19 (FoC) in the association between IoU and future career anxiety (FCA) among Chinese university students during the COVID-19 pandemic. (researchgate.net)
  • 2012). antigens that induce airway inflammation with the release of Although many studies investigated the association between inflammatory mediators. (cdc.gov)