• Variants (also known as mutations) in the ASAH1 gene have been found to cause Farber lipogranulomatosis. (medlineplus.gov)
  • Researchers have known for a while that mutations in this gene can lead to lower bone density, or osteoporosis. (listverse.com)
  • This website provides information on patients with mutations in the MED12 gene, including clinical data, molecular data, management and research options. (humandiseasegenes.nl)
  • MED12 -related disorders, caused by mutations in the MED12 gene, are multisystem disorders characterized by developmental delay and intellectual disability. (humandiseasegenes.nl)
  • This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the MED12 gene. (humandiseasegenes.nl)
  • Calmodulin Mutations in Human Disease. (nih.gov)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • These "disease genes" contain mutations that increase susceptibility to a disease phenotype, but are tolerated well enough as to not cause lethality in early developmental stages. (biomedcentral.com)
  • From an evolutionary perspective, human disease genes tend to have particularly ancient origins [ 3 ]-[ 6 ], suggesting that disease-causing mutations are more often identified in "older" genes. (biomedcentral.com)
  • The IMPC is generating and phenotyping - assessing the morphological and physiological characteristics of - knockout mutations for all of the protein-coding genes in the mouse genome to create a catalog of mouse genes that shows what each gene does. (thescienceexplorer.com)
  • In addition, in collaboration with the ExAC Consortium, they showed that human orthologs of mouse essential genes - human genes that have a common ancestor with mouse essential genes - are significantly depleted for loss-of-function mutations in humans, and that these genes are thus strong candidates for undiagnosed human genetic conditions. (thescienceexplorer.com)
  • All people are at risk of diseases due to genetic mutations. (who.int)
  • Novel human pathological mutations. (bvsalud.org)
  • The program package also writes and updates a large number of Web pages e.g. about distribution and statistics of disease-causing mutations, and changes in restriction patterns. (lu.se)
  • To be able to store and use information about these mutations, diseases, as well as patients suffering from the diseases, databases are needed. (lu.se)
  • For example, sickle cell disease-a blood disorder-is caused by gene mutations that come from a parent. (medlineplus.gov)
  • He analyzed data collected by Julia Bell on the heritability of several human diseases with quantitative phenotypes, specifically variation in age of onset. (wikipedia.org)
  • To confirm that the phenotypes they were studying truly caused human disease, they reversed the damage by expressing a wild-type human gene in which the associated nephrotic syndromes did not rescue the phenotypes. (childrensnational.org)
  • Our findings demonstrate how the local environment directly affects disease risk phenotypes and that genetic variation, including less common variants, can modulate individual's response to environmental challenges. (nature.com)
  • How much do model organism phenotypes contribute to the computational identification of human disease genes? (edu.sa)
  • One way to find human disease genes is to see if genetic perturbations lead to phenotypes that resemble those of a human with the disease. (edu.sa)
  • When biases were removed, the mouse phenotype showed the most computationally useful similarity to human phenotypes, while fish, fruit fly, and yeast did not. (edu.sa)
  • This paper is really focused on defining the phenotypes associated with genes that are essential to embryonic and post-natal development. (thescienceexplorer.com)
  • We compared the genes analyzed in this paper with a list of known human disease genes, which made it possible to identify for the first time the mutant phenotypes in the mouse for 52 human disease genes. (thescienceexplorer.com)
  • A human disease modifier gene is a modifier gene that alters expression of a human gene at another locus that in turn causes a genetic disease. (wikipedia.org)
  • DNA methylation and gene expression were analysed genome-wide in subcutaneous adipose tissue from two different cohorts, including 85 men and 93 women, respectively. (lu.se)
  • Causal mediation analyses tested if adipose tissue DNA methylation mediates the effects of triglycerides on gene expression or insulin resistance. (lu.se)
  • In addition, ApoE4 oligodendrocytes exhibit increased cholesterol pathway activity and decreased myelination gene expression. (cam.ac.uk)
  • MTHFD1L expression is upregulated in human colon cancer and breast cancer, and high levels of this protein are correlated with growth rate of human cancer cell lines. (dcu.ie)
  • The human genome has an extremely complex tissue expression profile. (biomedcentral.com)
  • Gene expression must be appropriately maintained to regulate development, differentiation, and proliferation of cells. (intechopen.com)
  • Imbalances or disturbances in gene expression are sometimes deleterious for living things. (intechopen.com)
  • For example, steroid and thyroid hormones directly bind to nuclear receptors, which induce expression of specific genes. (intechopen.com)
  • In other words, expression of specific genes might have relevance to pathogenesis of diseases. (intechopen.com)
  • The immune-related DEOSGs and hub genes were identified by weighted gene co-expression network analysis (WGCNA) and protein-protein interaction (PPI) analysis, respectively. (nature.com)
  • The mRNA expression of diagnostic genes was determined by qRT-PCR analysis. (nature.com)
  • Oxidative stress is involved in the modulation of gene expression patterns and metabolic activities, characterized by the disruption of redox homeostasis 7 . (nature.com)
  • Aims: The purpose of this study was to identify changes in expression of HCC-related genes and metabolite profiles in NAFLD progression. (arizona.edu)
  • We used an integrative approach to comprehensively assess the interactions between 1.6 million data points, encompassing a range of environmental exposures, health, and gene expression levels, coupled with whole-genome genetic variation. (nature.com)
  • Air pollution impacts gene expression and pathways affecting cardio-metabolic and respiratory traits, when controlling for genetic ancestry. (nature.com)
  • After attributing a regional and/or continental ancestry to each individual using genome-wide polymorphism data, we are able to capture the effect of different environmental exposures on gene expression and health-related traits, while simultaneously controlling for genetic relatedness and migration. (nature.com)
  • GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
  • MicroRNAs (MiRNAs) are important regulators that can strongly affect cellular functions including proliferation, differentiation, and apoptosis through post-transcriptional negative regulation of target gene expression [ 1 ]. (biomedcentral.com)
  • Dysregulated expression of miRNAs has been previously demonstrated in human diseases, and there is a growing body of evidence regarding the important roles of miRNAs in human diseases [ 2 ]. (biomedcentral.com)
  • Gene expression profiling of Leishmania (Leishmania). (cambridge.org)
  • Gene expression profiling is increasingly used in the field of infectious diseases for characterization of host, pathogen and the nature of their interaction. (cambridge.org)
  • On the biological level, we demonstrate that gene expression levels fluctuate during in vitro development of both intracellular amastigotes and promastigotes. (cambridge.org)
  • We found that the clusters decomposed by CPM outperformed MCL and MCODE as the candidates of disease-related clusters with well-supported biological significance in biological process, molecular function and cellular component of Gene Ontology (GO) and expression of human tissues. (ijbs.com)
  • With the increase in availability of human protein interaction data and gene expression data, the focus of bioinformatics development has shifted from understanding networks encoded by model species to understanding the networks underlying human disease [ 1 ]. (ijbs.com)
  • Integrating known disease genes with physical or biomolecular networks and gene expression data to identify disease-related subnetworks can help us explain many genetic and environmental factors influencing a disease in the context of a smaller number of discrete subnetworks as well as the causes or effects of the disease phenotype. (ijbs.com)
  • 3 ] proposed a method to detect disease-related gene modules or dysfunctional pathways based on global characteristics of interactome coupled with gene expression data. (ijbs.com)
  • 4 ] presented an approach to causal gene prediction that was based on integrating PPI network data with gene expression data under a condition of interest. (ijbs.com)
  • 5 ] assembled an endotoxin inflammatory response network by integrating functional interactions curated from the literature with gene expression information. (ijbs.com)
  • This study assessed the abundance and expression of Stx genes and the expression of host immune genes, aiming to determine factors affecting these measures and potential gene markers to differentiate Stx gene expression in the recto-anal junction of feedlot beef cattle. (frontiersin.org)
  • Additionally, the identified relationship between expressions of host immune genes and stx2 suggests that the host animal may regulate stx2 expression in colonizing STEC through immune functions. (frontiersin.org)
  • Genes whose expression levels rise and fall similarly in a large set of samples, may be considered coexpressed. (mdpi.com)
  • Total RNA from tumors the expression of thousands of genes (3) to address complex questions was isolated using two successive rounds of Trizol. (lu.se)
  • Dr Smedley added: "In addition to a better understanding of the disease mechanism and new treatments for rare disease patients, many of the lessons we learn here will also be of value to precision medicine, where the goal is to improve treatment through the customisation of healthcare based on a patient's genomic information. (sciencedaily.com)
  • They are hoping to gain a better understanding of human evolutionary history in order to better predict the genomic health of human populations moving forward and anticipate their medical needs. (naturalnews.com)
  • Elucidating the specific genes, rather than genomic loci, that regulate metabolites and their ratios can aid in identifying potential targets for therapeutic interventions. (metabolon.com)
  • Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases. (metabolon.com)
  • The differentially expressed genes (DEGs) in AD were screened in GSE48350 dataset. (nature.com)
  • Moderately cold temperatures increase longevity and decrease susceptibility to age-related diseases, according to research conducted at the University of Cologne. (medscape.com)
  • Whereas medical genetics has tended to distinguish between monogenic traits, governed by simple, Mendelian inheritance, and quantitative traits, with cumulative, multifactorial causes, increasing evidence suggests that human diseases exist on a continuous spectrum between the two. (wikipedia.org)
  • Their theories on the evolution of dominance had far-reaching implications for the fields of evolution, population and quantitative genetics, and biochemistry, and laid the early foundation of current understanding of human disease modifier genes. (wikipedia.org)
  • Their initial results, now published in Nature Genetics , is based on an analysis of the first 3,328 genes (15 per cent of the mouse genome coding for proteins). (sciencedaily.com)
  • Additionally, this work provides a reminder for scientists to carefully consider the genetics of the mice that they are using to study human diseases and find the right mouse for the job. (eurekalert.org)
  • Clinical genetics services provide care for people with both categories of disease, and registries of birth defects collect information about genetic diseases and congenital malformations. (who.int)
  • After a postdoc at Lund University, where she studied genetics of type 2 diabetes, she dedicated her research to the study of epigenetic mechanisms causing type 2 diabetes and metabolic disease. (lu.se)
  • Enrichment analysis was performed by Gene Ontology and Kyoto Encyclopedia of Genes and Genomes. (nature.com)
  • PhD Student Sarah M Alghamdi from the Bio-Ontology Research Group (BORG) explains how phenotype ontologies help in identifying disease genes through phenotype comparison. (edu.sa)
  • This is a summary of the article, "Cold Temperature Extends Longevity and Prevents Disease-Related Protein Aggregation Through PA28γ-Induced Proteasomes," published in the journal Nature Aging on April 3, 2023. (medscape.com)
  • Samples without DNA and strains lacking (negative) or carrying (positive) specific genes were used as controls in the PCR. (cdc.gov)
  • For example, Zhang and Li found that housekeeping genes evolved more slowly than tissue-specific genes [ 10 ]. (biomedcentral.com)
  • We also found that most of the disease-related clusters consisted of tissue-specific genes that were highly expressed only in one or several tissues, and a few of those were composed of housekeeping genes (maintenance genes) that were ubiquitously expressed in most of all the tissues. (ijbs.com)
  • The International Mouse Phenotyping Consortium (IMPC) is aiming to produce a complete catalogue of mammalian gene function across all genes. (sciencedaily.com)
  • Methods We analysed 980 neuropathologically characterised human brains with Alzheimer's disease (AD), Parkinson's disease-dementia with Lewy bodies (PD-DLB), frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) and age-matched controls. (bmj.com)
  • Could gene therapy halt the progression of Alzheimer's disease? (universityofcalifornia.edu)
  • Researchers at University of California San Diego School of Medicine have launched a first-in-human Phase I clinical trial to assess the safety and efficacy of a gene therapy to deliver a key protein into the brains of persons with Alzheimer's disease (AD) or Mild Cognitive Impairment (MCI), a condition that often precedes full-blown dementia. (universityofcalifornia.edu)
  • We found that delivering BDNF to the part of the brain that is affected earliest in Alzheimer's disease - the entorhinal cortex and hippocampus - was able to reverse the loss of connections and to protect from ongoing cell degeneration," said Tuszynski. (universityofcalifornia.edu)
  • Alzheimer's disease (AD) is a debilitating brain disorder with staggering human and financial costs. (cam.ac.uk)
  • Apolipoprotein E4 (ApoE4) is the strongest known genetic risk variant for sporadic Alzheimer's disease (AD), but a comprehensive understanding of the cell-type-specific effects of APOE4 in the human brain in the presence and absence of AD pathology has yet to be achieved. (cam.ac.uk)
  • Genetic association studies demonstrated that MTHFD1L polymorphisms are associated with coronary artery disease, Alzheimer's disease and neural tube defects (NTDs). (dcu.ie)
  • Alzheimer's disease (AD) is the leading cause of dementia in aged population. (nature.com)
  • Alzheimer's disease (AD) is an insidious, progressive, and devastating neurodegenerative disease, which is recognized as the leading cause of dementia in aged population. (nature.com)
  • Aging is a risk factor for several neurodegenerative diseases involved in protein aggregation, including Alzheimer's, Parkinson's, Huntington's, and ALS. (medscape.com)
  • Learn more about Alzheimer's disease and related clinical trials. (medlineplus.gov)
  • In contrast, M protein or M-like proteins were found in human GGS/GCS ( S . dysgalactiae subsp. (cdc.gov)
  • Since genes use RNA molecules to make proteins, these snippets effectively "silence" genes that carry the same sequence. (newscientist.com)
  • Amyloid mice are genetically engineered to inherit a mutation in the gene encoding the amyloid precursor protein, and as a result develop amyloid plaques - aggregates of misfolded proteins in the brain that are considered a hallmark characteristic of AD. (universityofcalifornia.edu)
  • This gene encodes one of three calmodulin proteins which are members of the EF-hand calcium-binding protein family. (nih.gov)
  • We have learned that genes in mammalian cells are transcribed into messenger RNAs (mRNAs), which are to be translated into polypeptides (proteins). (intechopen.com)
  • Genes control everything from hair color to blood sugar by telling cells which proteins to make, how much, when, and where. (livescience.com)
  • However, the vast majority of the mouse genome remains poorly understood, as scientists tend to focus their research on a few specific areas of the genome linked to the most common inherited diseases. (sciencedaily.com)
  • The project involves going through the mouse genome systematically and knocking out a particular gene, one by one, in different mice. (sciencedaily.com)
  • The heritability of many metabolite levels is high, allowing the use of a genome-wide association study (GWAS), which identifies genetic variations associated with a particular disease. (metabolon.com)
  • The human genome may contain thousands of essential genes having features which differ significantly from disease and other genes. (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)
  • WormBase is supported by grant #U24 HG002223 from the National Human Genome Research Institute at the US National Institutes of Health , the UK Medical Research Council and the UK Biotechnology and Biological Sciences Research Council . (wormbase.org)
  • Further, in order to capture gene-by-environment interactions through eQTL analyses, we combine whole-transcriptome RNA-Sequencing profiles with whole-genome genotyping and extensive fine-scale environmental exposure data. (nature.com)
  • To understand what causes chondrodysplasia, a team of researchers led by Dr. Elaine Ostrander of NIH's National Human Genome Research Institute (NHGRI) examined DNA samples from 835 dogs from 76 distinct breeds, including 95 dogs from 8 breeds with short legs. (nih.gov)
  • The new DNA can be inserted into the genome, usually at a different place than the original gene. (nih.gov)
  • The recent expansion of whole-genome sequence data available from diverse animal lineages provides an opportunity to investigate the evolutionary origins of specific classes of human disease genes. (biomedcentral.com)
  • In African Americans, the genetic risk landscape for inflammatory bowel disease (IBD) is very different from that of people with European ancestry, according to results of the first whole-genome study of IBD in African Americans. (news-medical.net)
  • Roughly a third of all genes in the mammalian genome are essential for life. (thescienceexplorer.com)
  • The number of genes in an organism's complete set of DNA, called a genome, varies from species to species. (livescience.com)
  • Dr. Ling's research group has also shown that genetic and non-genetic factors such as SNPs, exercise, diet, obesity and age alter the genome-wide epigenetic pattern in human primary tissues for type 2 diabetes. (lu.se)
  • The Human Genome Project has already fueled the discovery of more than 1,800 disease genes . (medlineplus.gov)
  • By looking at the mouse's resulting characteristics in a variety of standardised tests, the team then see if and how the gene knockout manifests itself as a disease, and link their findings to what is already known about the human version of the disease. (sciencedaily.com)
  • The findings may assist in understanding the genetic regulation of human metabolism and provide a valuable resource for identifying targets for pharmaceutical intervention. (metabolon.com)
  • These findings provide insights into the genetic architecture of metabolites and show how these data can be used to identify metabolites as biomarkers for increased risk of disease. (metabolon.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)
  • Therefore, comparing disease genes to a mixture of essential and non-disease genes will reduce the clarity of the signals of the disease-related features and may even lead to erroneous findings. (biomedcentral.com)
  • Dr Weiss commented, "Our findings will help scientists using the Berkeley and Townes mice decide which to use to address their specific research question relating to sickle cell disease or haemoglobin. (eurekalert.org)
  • Our findings provide a broad perspective on the relationships between miRNAs and diseases and could potentially aid future research efforts concerning miRNA involvement in disease pathogenesis. (biomedcentral.com)
  • Taken together, these findings emphasize why model organism selection should be done on a disease-by-disease basis, with evolutionary profiles in mind. (biomedcentral.com)
  • Our findings suggest that studying the natural biology and evolutionary history of parvoviruses can inform the rational design of vectors for safer and more effective gene therapies. (gla.ac.uk)
  • The term 'modifier gene' may be taken to mean a gene in which genetic variation modifies the effects of mutation at a major locus, but has no effect on the normal condition, a condition not necessarily met for oligogenic interactions. (wikipedia.org)
  • The study of diseases that arise from interactions amongst genes is important for understanding the genetic basis of disease. (wikipedia.org)
  • Early theories that established the likely existence of modifier genes, and gene interactions as determinants of phenotypic variation, originated from theories of evolution, notably the evolution of the condition of allelic dominance. (wikipedia.org)
  • While theoretical models are well defined, little is known of the G × E interactions in humans. (nature.com)
  • 6 ] assessed potential miRNA-disease interactions through a miRNA-miRNA functional similarity network that was constructed based on the similarity of miRNA-associated diseases. (biomedcentral.com)
  • Since genes associated with similar diseases/disorders show an increased tendency for their protein products to interact with each other through protein-protein interactions (PPI), clustering analysis obviously as an efficient technique can be easily used to predict human disease-related gene clusters/subnetworks. (ijbs.com)
  • A widely accepted theory is that human growth, development and disease occurrence depends upon a complicated interaction between inherited genes and interactions with the environment. (cdc.gov)
  • The interactions between microbial communities and human hosts can impact and drive disease acuity and progression. (cdc.gov)
  • By this technique, the gene coding for restin (RSN) was assigned to chromosome region 12q24.31→q24.33, while localization of the α-2-macroglobulin receptor (A2MR) was refined to 12q13.1→q13.3. (karger.com)
  • Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.A missense mutation in the CALM1 gene has been associated with ventricular tachycardia. (nih.gov)
  • The gene for factor IX is carried on the X chromosome - one of the two sex chromosomes. (thenakedscientists.com)
  • This means that the disease usually only affects boys - who have one X chromosome carrying the faulty gene and one Y chromosome - as girls have two X chromosomes, so a fault in one can be balanced out by a functional gene on the other. (thenakedscientists.com)
  • The full assembly of human chromosome 8 is reported this week in Nature. (news-medical.net)
  • While on the outside this chromosome looks typical, being neither short nor long or distinctive, its DNA content and arrangement are of interest in primate and human evolution, in several immune and developmental disorders, and in chromosome sequencing structure and function generally. (news-medical.net)
  • Some genetic diseases, such as haemophilia, are carried on the X-chromosome (these X-linked disorders occur mainly in men). (who.int)
  • The gene for Machado-Joseph disease maps to human chromosome 14q. (bvsalud.org)
  • Identification of novel genes associated with human diseases is among the most critical tasks in medical research. (biomedcentral.com)
  • Our study identified 9 key genes associated with oxidative stress and immune reaction in AD pathogenesis. (nature.com)
  • Conclusions: These data indicate an overlap in the pathogenesis of NAFLD and HCC where several classes of HCC related genes and metabolites are altered in NAFLD. (arizona.edu)
  • [ 2 , 13 ] (Other compounds, such as monogalactosyldiglyceride and lactosylceramide, also are degraded by GALC but are not believed to be involved in the pathogenesis of Krabbe disease. (medscape.com)
  • As a result, researchers will use gene therapy in which a harmless adeno-associated virus (AAV2) is modified to carry the BDNF gene and injected directly into targeted regions of the brain, where researchers hope it will prompt production of therapeutic BDNF in nearby cells. (universityofcalifornia.edu)
  • A previous gene therapy trial from 2001 to 2012 using AAV2 and a different protein called nerve growth factor (NGF) found heightened growth , axonal sprouting and activation of functional markers in the brains of participants. (universityofcalifornia.edu)
  • The BDNF gene therapy trial in AD represents an advance over the earlier NGF trial," said Tuszynski. (universityofcalifornia.edu)
  • Tuszynski said gene therapy, which debuted in 1980 and has been tested on multiple diseases and conditions, represents a different approach to a disease that requires new ways of thinking about the disease and new attempts at treatments. (universityofcalifornia.edu)
  • We hope to build on recent successes of gene therapy in other diseases, including a breakthrough success in the treatment of congenital weakness in infants (spinal muscular atrophy) and blindness (Leber Hereditary Optic Neuropathy, a form of retinitis pigmentosa)," Tuszynski said. (universityofcalifornia.edu)
  • Before a new treatment can be tested on people, scientists test them on laboratory animals, so Weiss and colleagues tried their new gene therapy in two types of mice that carry the symptoms of sickle cell disease: so-called 'Berkeley' and 'Townes' mice. (eurekalert.org)
  • Surprisingly, 70% of the Berkeley mice died from the therapy and it only activated production of the healing foetal haemoglobin gene in 3.1% of mouse's stem cells. (eurekalert.org)
  • This complex genetic make-up caused the fatal effects when the scientists tested the gene therapy in the Berkeley mice, as editing multiple copies of a gene can damage the DNA. (eurekalert.org)
  • Some have even been successfully harnessed as gene therapy vectors for the treatment of genetic diseases. (gla.ac.uk)
  • Parvovirus gene therapy is a cutting-edge biomedical technology. (gla.ac.uk)
  • Stem cell-based gene therapy holds promise for the treatment of devastating genetic skin diseases, but the long-term clinical outcomes of this approach have been unclear. (cosmeticskindoctor.com)
  • Bovine isolates carried other genetic determinants, such as composite transposon Tn 1207.3 /Φ10394.4 (100%) and antimicrobial drug resistance genes erm (B)/ erm (A) (22.2%), lin B (16.6%), and tet (M)/ tet (O) (66.7%), located on mobile elements. (cdc.gov)
  • The routine use of antimicrobials in vast numbers of healthy animals is likely to result in the emergence and spread of antimicrobial-resistant bacteria, and cause resistant infections in animals and humans. (who.int)
  • The genes coding for antimicrobial resistance can be transferred from microbes carried by animals to microbes that cause disease in humans. (who.int)
  • Lack of intersectoral collaboration: Without coordinated AMR surveillance in bacteria from humans, food and animals it is difficult to assess the public health impact of antimicrobial use in food-producing animals and to take corrective measures. (who.int)
  • Inadequate training: lack of training on appropriate use of antimicrobial agents in food-producing animals, and insufficient understanding of their potential contribution to AMR in humans, are common among farmers, veterinary prescribers and dispensers. (who.int)
  • Zhe Han, Ph.D. , Center for Cancer and Immunology Research , and his team of researchers studied nephrotic syndrome (NS) associated genes in the Drosophila model, which included seven genes that had never been analyzed in a pre-clinical model. (childrensnational.org)
  • However, the levels of foetal haemoglobin produced in the red blood cells of Townes mice were 7- to 10-times lower than seen when this approach is used in human cells grown in the laboratory and not high enough to reduce clinical signs of sickle cell disease. (eurekalert.org)
  • This freely available and accessible dataset provides significant new gene-feature associations to enable scientists to prioritize gene candidates identified in their preclinical and discovery research," said co-first author Dr. Ann Flenniken, manager of the Clinical Phenotyping Core at The Centre for Phenogenomics in Toronto. (thescienceexplorer.com)
  • However, this report focuses on the traditional category of genetic diseases and associated congenital malformations , both of which conditions are manifested early in life and for which clinical interventions are available. (who.int)
  • With its similarity to human biology and ease of genetic modification, the laboratory mouse is arguably the preferred model organism for studying human genetic disease. (sciencedaily.com)
  • Development of therapies for rare disease lags far behind, with over half of diagnosed rare diseases still having no known causative gene. (sciencedaily.com)
  • In this chapter, revisiting known TFs, we would argue if transcription controlling strategies could contribute for the novel therapies on human diseases. (intechopen.com)
  • When testing the treatment in mice, the researchers found that even though the lab mice had the symptoms of sickle cell disease, the foetal haemoglobin gene and surrounding DNA were not properly configured, making the revolutionary stem-cell treatment ineffective or even harmful in the animals and raising concerns for future research testing new gene-based therapies in these laboratory mice. (eurekalert.org)
  • This knowledge positions scientists to take instruction from nature in the development of improved gene therapies - for example, the propensity of different parvovirus types to infect different organ systems could be harnessed to target these therapies more effectively. (gla.ac.uk)
  • The discovery of an "Achilles heel" in a type of gut bacteria that causes intestinal inflammation in patients with Crohn's disease may lead to more targeted therapies for the difficult to treat disease, according to Weill Cornell Medicine and NewYork-Presbyterian investigators. (news-medical.net)
  • Haldane proposed that there exist three possible sources of observed phenotypic variation in monogenic traits: differences in the main gene itself differences in modifying genes differences in environment Haldane provided a fundamental, theoretical basis for the existence of modifier genes. (wikipedia.org)
  • For the first time, human disease traits were seen in mouse models for forms of Bernard-Soulier syndrome (a blood clotting disorder), Bardet-Biedl syndrome (causing vision loss, obesity and extra fingers or toes) and Gordon Holmes syndrome (a neurodegenerative disorder with delayed puberty and lack of secondary sex characteristics). (sciencedaily.com)
  • Using MR, they identified 22 metabolites and 20 metabolite ratios to have an estimated causal effect on 12 traits and diseases that are influenced by aging, metabolism, and immune response. (metabolon.com)
  • Full of information, genes pass similar traits from one generation to the next. (livescience.com)
  • The researchers then used bioinformatics approaches and identified 94 effector genes for 109 metabolites and 48 metabolite ratios. (metabolon.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)
  • Since a functional disruption of an essential gene has fatal consequences, it's more reasonable to regard essential genes as extremely severe "disease" 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)
  • We demonstrate that UEHGs are very likely to contain a large proportion of essential genes. (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)
  • Essential genes are genes whose functions are necessary for the organism to survive and reproduce. (biomedcentral.com)
  • Since the disruption of essential genes' function will cause fatal consequences, they should be regarded as the most severe "disease" genes. (biomedcentral.com)
  • Thus, it is beneficial to separate human essential genes from other non-disease genes before comparisons are made. (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)
  • 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)
  • The team also showed that identification of essential genes in the mouse provides a window on human disease, including the discovery of a number of novel cases in which human disease genes overlap with essential genes. (thescienceexplorer.com)
  • In the context of human disease, the terms 'modifier gene' and 'oligogene' have similar meanings, and characterization of a particular locus depends on characterization of the phenotype (effects) that it causes or modifies. (wikipedia.org)
  • By outcrossing, he argued, the breeder selects for modifying factors that attenuate the mutant phenotype, and by inbreeding and limiting the gene pool of modifiers, the dominance of the mutation is recovered. (wikipedia.org)
  • 1-5 Some of the known risk alleles are common in the general population, raising the possibility that multiple interacting genetic variants might enhance the risk of developing disease or modify the disease phenotype. (bmj.com)
  • After carefully testing a variety of methods to identify disease genes through phenotype comparison and determining how much each species' data contributes to gene discovery. (edu.sa)
  • Patient based registries offer more additional data, for example details about ethnic and population associations, inheritance information, relative frequencies, genotype-phenotype correlations, data about the consequences on RNA, protein and functional level, disease parameters, and treatment information. (lu.se)
  • Infectious disease experts at the U.S. Centers for Disease Control and Prevention (CDC) and the National Institutes of Health (NIH) recently co-edited a special issue of the Journal of Infectious Diseases (JID) featuring 16 review articles on innovative research of the human microbiome, which is the community of naturally occurring microorganisms in and on our bodies. (cdc.gov)
  • The authors highlight innovations in microbiome research that may protect people from infectious diseases and antibiotic-resistant microorganisms, such as microbiome indices measuring the health status of a patient's microbiome, targeting resistant microbes , and live biotherapeutics . (cdc.gov)
  • Sickle cell disease is an extremely debilitating condition that affects up to 40% of the population in African countries, with patients suffering episodes of excruciating pain, organ damage and reduced life-expectancy. (eurekalert.org)
  • Weiss and colleagues then wanted to find out why this new treatment was not successful in the Berkeley mice, which have been used for decades to test treatments for sickle cell disease. (eurekalert.org)
  • Therefore, the team sequenced the haemoglobin genes and surrounding DNA of the Berkeley mice and discovered that instead of having a single copy of the mutated human gene, the mice had 22 randomly arranged, broken-up copies of the mutated human sickle cell disease gene and 27 copies of the human foetal haemoglobin that the team had hoped to activate to cure the mice of the disease. (eurekalert.org)
  • for instance, carriers of sickle-cell disease and thalassaemia genes may be protected from contracting malaria. (who.int)
  • In particular an echocardiogram is indicated because of the association with congenital heart disease. (humandiseasegenes.nl)
  • Multifactorial disorders are usually categorized as congenital malformations , such as neural tube defect, cleft lip and palate, or diseases with a genetic predisposition , such as some chronic, noncommunicable diseases. (who.int)
  • In the literature, congenital malformations are often associated with genetic diseases because they both tend to present during pregnancy, at birth or in early childhood. (who.int)
  • The research, which generated over 20 million pieces of data, has found 360 new disease models and provides 28,406 new descriptions of the genes' effects on mouse biology and disease. (sciencedaily.com)
  • They may also have implications for understanding human biology and disease. (nih.gov)
  • Model organisms, such as the mouse, fish, fruit fly, and yeast, are intensively studied and can give useful insights into human biology, including disease-causing genes and mechanisms. (edu.sa)
  • Controlling for this bias is essential in studies investigating a potential role for oligogenic variation in neurodegenerative diseases. (bmj.com)
  • Genetic variation in over 50 genes contributes to the risk of developing neurodegenerative diseases. (bmj.com)
  • Unless you find yourself with an extremely rare mutation of the LRP5 gene, that is. (listverse.com)
  • Not all individuals with a mutation in the SMAD3 gene have these features. (humandiseasegenes.nl)
  • This disease is caused by a mutation in a gene that makes haemoglobin, the protein that carries oxygen in red blood cells, with the damaged haemoglobin distorting the shape of red blood cells, causing painful and potentially life-threatening blockages in blood vessels. (eurekalert.org)
  • Mutation information is available for genetically known diseases from several laboratories around the world. (lu.se)
  • Lead author Dr Damian Smedley from Queen Mary University of London (QMUL) and a Monarch Initiative Principal Investigator, said: "Although next generation sequencing has revolutionised the identification of new disease genes, there is still a lack of understanding of how these genes actually cause disease. (sciencedaily.com)
  • Identification of disease-related miRNAs will aid in the pathological classification of diseases and help to formulate individualized treatment regimes [ 3 ]. (biomedcentral.com)
  • While distant evolutionary cousins of modern humans like Neanderthals and Denisovans had significantly more disease-promoting alleles than we do, the overall genetic health foundations improved dramatically as the millennia passed. (naturalnews.com)
  • We show that the UEHGs, disease genes and other genes are different in their evolutionary conservation rates, DNA coding lengths, gene functions, etc. (biomedcentral.com)
  • We used a comparative genomics approach encompassing a broad phylogenetic range of animals with sequenced genomes to determine the evolutionary patterns exhibited by human genes associated with different classes of disease. (biomedcentral.com)
  • Our results reveal the heterogeneity underlying the evolutionary origins of (and selective pressures on) different classes of human disease genes. (biomedcentral.com)
  • Increased knowledge of genomics over the past two decades has made it apparent that the traditional category of genetic diseases represents only those conditions in which the genetic contribution is particularly marked, whereas in fact diseases can be arrayed along a spectrum representing the varied contribution of genes and the environment. (who.int)
  • Group A streptococci (GAS)-specific phage-associated virulence determinants encoding pyrogenic exotoxins or superantigens ( speM , ssa ), which are strongly associated with severe diseases such as scarlet fever, streptococcal toxic shock syndrome, and rheumatic fever, have been described among human group C streptococci (GCS) or group G streptococci (GGS) ( S . dysgalactiae subsp. (cdc.gov)
  • Composite transposons and other genetic determinants also considered to be located in specific mobile elements such as macrolide (either encoding methylases [ erm genes] or efflux pumps [ mef genes]) and tetracycline resistance determinants ( tet genes) have been found among streptococcal species of human origin. (cdc.gov)
  • dysgalactiae to search for genetic determinants, particularly those carried by mobile elements known to be transferred among human GAS and GGS/GCS. (cdc.gov)
  • More than half of the 3,328 genes characterised have never been investigated in a mouse before, and for 1,092 genes, no molecular function or biological process were previously known from direct experimental evidence. (sciencedaily.com)
  • An independent assessment of the synonymous to non-synonymous substitution rates of human disease genes found in mammals reveals that disease classes that arose more recently also display unexpected rates of purifying selection between their mammalian and human counterparts. (biomedcentral.com)
  • From this data, Haldane concluded that no single factor could be proven responsible for the observed phenotypic variation, in what were considered to be simple, monogenic diseases. (wikipedia.org)
  • Background Several studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact synergistically to increase disease risk or reduce the age of onset, but these studies have not been validated in large sporadic case series. (bmj.com)
  • However, it is not well established whether human subcutaneous adipose tissue is affected by or affect circulating lipids through epigenetic mechanisms. (lu.se)
  • Hence, our aim was to investigate the association between circulating lipids and DNA methylation levels in human adipose tissue. (lu.se)
  • We found 115 novel associations between triglycerides and adipose tissue DNA methylation, e.g. in the promoter of RFS1, ARID2 and HOXA5 in the male cohort (P ≤ 1.1 × 10-7), and 63 associations, e.g. within the gene body of PTPRN2 and COL6A3 in the female cohort. (lu.se)
  • Emerging experimental evidence has substantiated the likely existence and importance of modifier genes of human genetic disease, and a few diseases serve as models for the course of this emerging evidence. (wikipedia.org)
  • However, the DNA of the remains of ancient people has provided new insight into their genetic disease factors. (naturalnews.com)
  • The scientists reached their conclusion following a computational comparison of the genetic disease factors found in modern humans and their predecessors throughout the millennia. (naturalnews.com)
  • Next, the researchers applied the newly identified gene-metabolite associations to Mendelian randomization (MR)-a method used to investigate the causal relationship between an exposure (eg, metabolites) and disease outcomes. (metabolon.com)
  • The set of human genes implicated in Mendelian diseases are of particular interest in biomedical research. (biomedcentral.com)
  • Title: "A scRNAseq study of human embryonic tanycyte: heterogeneity and developmental trajectory" 28th of November, 10-11, Segerfalkssalen and zoom. (lu.se)
  • The Metabolon Global Discovery Panel helped identify novel gene-metabolite associations. (metabolon.com)
  • 1 The panel's unrivaled coverage of up to 5,400 metabolites offered this group the most comprehensive solution to elucidate metabolite-gene associations related to human disease. (metabolon.com)
  • By combining GWAS and metabolomics, researchers can identify genetic variants associated with changes in specific metabolic pathways and gain insights into how these pathways contribute to the development of human diseases. (metabolon.com)
  • Housekeeping genes have been studied by many researchers and some interesting observations have been reported. (biomedcentral.com)
  • This means that researchers cannot use these mice to test and optimise this gene-editing treatment. (eurekalert.org)
  • Using a new, standardized phenotyping pipeline and mouse strains on a single C57BL/6N genetic background, the researchers established both the time of embryo death and the nature of the lethal features for these lines, discovering many novel characteristics that shed light on the function of these genes. (thescienceexplorer.com)
  • The presence of oligogenic variants did not influence the age of onset or disease severity. (bmj.com)
  • This study provides insights into the genetic architecture of metabolites and shows how metabolomics can be used to identify metabolites involved in the onset of many diseases. (metabolon.com)
  • Recent global analyses of gene transcripts revealed that specific transcription factors (TFs) and their networking systems physiologically correspond to the onset of human diseases, including cancer. (intechopen.com)
  • The Nature study, published Sept. 14, reports the results of the first 1,751 genes characterized by the IMPC, including the finding that nearly one third are essential for life. (thescienceexplorer.com)
  • This project involves the characterization of MTHFD1L with a particular focus on genetic polymorphisms and disease risk. (dcu.ie)
  • However, these mice likely lacked crucial pieces of DNA that normally regulate the production of the foetal haemoglobin gene in humans. (eurekalert.org)
  • These include genes that have now been found to be involved in the formation of blood components (potentially involved in a type of anemia), cell proliferation and stem cell maintenance. (sciencedaily.com)
  • Well-preserved remains like those of the "Ice Man" found in Austria help provide this important insight into past humans. (naturalnews.com)
  • 3 ] found that disease genes evolved with higher nonsynonymous/synonymous substitution rate ratios (Ka/Ks) than non-disease genes, but Huang et al. (biomedcentral.com)
  • Eisenberg and Levanon found that housekeeping genes were compact in their coding lengths, which could be the result of higher selective pressure[ 11 ]. (biomedcentral.com)
  • Variants in the ASAH1 gene have been found to cause spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). (medlineplus.gov)
  • Interestingly, there are two versions of this mutant gene, and athletes with both have been found to perform consistently better than their conventionally chromosomed counterparts. (listverse.com)
  • The scientists noted that, although functional, the extra gene lacks certain parts of the DNA code, called introns, found in normal genes. (nih.gov)
  • By systematically analyzing the global properties of the miRNA-disease network, we found that only a small number of miRNAs regulated genes involved in various diseases, genes associated with neurological diseases were preferentially regulated by miRNAs and some immunological diseases were associated with several specific miRNAs. (biomedcentral.com)
  • In addition, theories linking exposure to substances in the womb (through the mother's blood) with diseases found in adulthood has also been accepted by a number of scientists from different fields. (cdc.gov)
  • These conditions are described as genetic diseases because a defect in one or more genes or chromosomes leads to a pathological condition. (who.int)
  • Our results support previous claims that most human disease genes are of ancient origin but, more importantly, we also demonstrate that several specific disease classes have a significantly large proportion of genes that emerged relatively recently within the metazoans and/or vertebrates. (biomedcentral.com)
  • The first results from a functional genetic catalogue of the laboratory mouse has been shared with the biomedical research community, revealing new insights into a range of rare diseases and the possibility of accelerating development of new treatments and precision medicine. (sciencedaily.com)
  • We developed a computational framework to identify miRNA-disease associations by performing random walk analysis, and focused on the functional link between miRNA targets and disease genes in protein-protein interaction (PPI) networks. (biomedcentral.com)
  • The hypergeometric distribution method considers the number of overlapping genes while neglecting the functional link between them, and the scoring system used in their study only considered the direct neighbour information of each miRNA in the miRNA functional network. (biomedcentral.com)
  • Functional connections between miRNA targets and disease genes could be obtained via PPI network. (biomedcentral.com)
  • However, miRNA-disease associations identified by previous computational methods are far from completeness and more effort is needed. (biomedcentral.com)
  • In this study, we present a computational framework to identify miRNA-disease associations, and further construct a bipartite miRNA-disease network for systematically analyzing the global properties of miRNA regulation of disease genes. (biomedcentral.com)
  • Thus far, computational prediction methods for miRNA-disease associations have produced some valuable results. (biomedcentral.com)
  • He proposed a very simple theory, yet one that is operative in the study of oligogenic and complex human genetic disorders today. (wikipedia.org)
  • They were especially interested in genetic locations, or loci, that are associated with common diseases like digestive problems, psychiatric issues, muscle disorders, dental health and heart disease. (naturalnews.com)
  • Multifactorial disorders, on the other hand, where genetic and environmental factors interact, have not traditionally been considered to be genetic diseases. (who.int)
  • The work also underscores the value of canine studies for uncovering new biological mechanisms that are likely relevant to human disease. (nih.gov)
  • Firstly, we used clustering algorithms, Markov cluster algorithm (MCL), Molecular complex detection (MCODE) and Clique percolation method (CPM) to decompose human PPI network into dense clusters as the candidates of disease-related clusters, and then a log likelihood model that integrates multiple biological evidences was proposed to score these dense clusters. (ijbs.com)
  • Scientists from the Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago demonstrated that a nanotherapy reduces intestinal inflammation and shrinks lesions in a rodent model of severe Crohn's disease. (news-medical.net)
  • Investigation of hub genes for the development of potential therapeutic targets and candidate biomarkers is warranted. (nature.com)
  • Real-time RT-PCR cycle threshold (Ct) results average number of SGTF/SGTP and sequencing results were for three gene targets ( S , N , and ORF1ab ) were reported to U.S. (cdc.gov)
  • MiRNA mainly performs its regulatory function through its targets, and thus we presumed that if targets of a miRNA correlate with disease genes then the miRNA tends to be associated with the disease. (biomedcentral.com)
  • The 'one by one' knockout approach lends itself to rare gene discovery, as often these diseases are caused by variants of a single gene. (sciencedaily.com)
  • Throughout the ages, evolution has essentially weeded out many of the genetic variants that are associated with disease while propagating those that protect against certain ailments. (naturalnews.com)
  • After discovering they could compare 3,180 disease loci computationally from ancient humans all the way to modern people, they checked for the genetic variants associated with the chances of those diseases or protection from them. (naturalnews.com)
  • The ASAH1 gene variants that cause SMA-PME result in a reduction of acid ceramidase activity to a level less than one-third of normal. (medlineplus.gov)
  • Scientists have unlocked key insights into virus evolution, revealing new information that could help develop treatments for a wide variety of genetic diseases. (gla.ac.uk)
  • The unexpected discovery provides clues about how physical differences may arise within species and suggests new approaches to understanding a form of human dwarfism. (nih.gov)
  • While this suggests that many animal species have the potential to serve as feasible models for research on genes responsible for human disease, it is unclear whether this pattern has meaningful implications and whether it prevails for every class of human disease. (biomedcentral.com)
  • In their current Disease Models & Mechanisms article , Mitchell Weiss and colleagues from St. Jude Children's Research Hospital, Memphis, USA, investigated a promising new treatment that is being developed in Weiss' lab and works by editing genes to switch on the production of this healthy, foetal haemoglobin in adult red blood cells. (eurekalert.org)
  • Her research was picked as a highlight in the July 2022 issue of Disease Models and Mechanisms Journal. (edu.sa)
  • Sarah's research was picked as a highlight in the July 2022 issue of Disease Models and Mechanisms Journal. (edu.sa)
  • Elucidating the associations between miRNAs and diseases at the systematic level will deepen our understanding of the molecular mechanisms of diseases. (biomedcentral.com)
  • We also observed that most diseases in the same co-regulated module tended to belong to the same disease category, indicating that these diseases might share similar miRNA regulatory mechanisms. (biomedcentral.com)
  • Predicting human disease-related clusters/subnetworks using a biomolecular network is critical to gain an understanding of disease mechanisms, and is also essential for the development of new diagnostics and therapeutics. (ijbs.com)
  • The Consortium aims to discover new functions for the roughly 20,000 genes shared with humans, and makes all of the mouse strains available to provide a platform for dissecting the mechanisms of human disease. (thescienceexplorer.com)
  • This review examines the most used current epigenetic clocks and details the associations between epigenetic age acceleration and asthma/allergic disease. (mdpi.com)
  • These theories may help guide future studies to explore whether inheritance of epigenetic modifications due to endocrine disruption exposure is possible in humans. (cdc.gov)
  • Released on June 15, 2021, the journal supplement highlights the significant promise the human microbiome holds for addressing public health challenges like antibiotic resistance (AR)-one of the greatest modern public health threats-with topic areas ranging from sepsis, Clostridioides difficile (C. difficile) and necrotizing enterocolitis, to the vaginal, gut, and lung microbiomes. (cdc.gov)
  • This reservoir of resistance genes can be shared with other microbes in the gut but also holds promise for future diagnostics and treatments. (cdc.gov)
  • Introduce pre-licensing safety evaluation of antimicrobials for veterinary use, with consideration of potential resistance to drugs used in human medicine. (who.int)
  • First, they removed stem cells - cells in the bone marrow programmed to become red blood cells - from the mice and used gene editing to modify part of the stem cells' DNA to switch on the healthy foetal haemoglobin gene. (eurekalert.org)
  • To complement the in vivo system of chick embryos, we employ patient omics data, single cell RNA sequencing, human and mouse embryos, human cancer cell cultures, human pluripotent stem cells, chick embryo neural crest-derived in vitro crestosphere cultures, and zebrafish and mouse in vivo models. (lu.se)