• Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • Mice homozygous for targeted mutations in this gene are viable, fertile and phenotypically normal. (jax.org)
  • Retinitis pigmentosa, estimated to impair the vision of one in 4,000 people, can be caused by mutations in over 100 different genes. (scienceboard.net)
  • To restore vision in the mice, the team developed a new and more versatile CRISPR system called PE SpRY , which can be programmed to correct many different genetic mutations, regardless of where in the genome they occur. (scienceboard.net)
  • One such molecule, known as KITL, controls numerous stages of oocyte development, which is why individuals harboring mutations within the gene that codes for this particular compound tend to suffer from fertility issues . (iflscience.com)
  • As CRISPR-Cas9, a new gene-editing technology, moves into gene therapy clinical trials, a new study published in Nature Methods has reported that it can introduce hundreds of unintended mutations into the genome of mice, including single nucleotide mutations and mutations in non-coding regions of the genome (Item 1). (biosafety-info.net)
  • In the new study, the researchers sequenced the entire genome of mice that had undergone CRISPR gene editing in the team's previous study and looked for all mutations, including those that only altered a single nucleotide. (biosafety-info.net)
  • The researchers found that the genomes of two independent gene therapy recipients had sustained more than 1,500 single-nucleotide mutations and more than 100 larger deletions and insertions. (biosafety-info.net)
  • Dr Michael Antoniou, a London-based molecular geneticist, believes that not only is it necessary to conduct whole genome sequencing to identify all off-target mutations from CRISPR-based genome editing, but it is also essential to ascertain the effects of these unintended changes on global patterns of gene function (Item 2). (biosafety-info.net)
  • New York- As CRISPR-Cas9 starts to move into clinical trials, a new study published in Nature Methods has found that the gene-editing technology can introduce hundreds of unintended mutations into the genome. (biosafety-info.net)
  • Mutations affecting the expression of genes are known to underlie much of adaptive evolution. (biorxiv.org)
  • Such mutations can arise in cis -(near the gene of interest) or in trans -(at a distant locus), but the relative contribution of these different kinds of changes to adaptation is poorly understood, especially during very recent divergence. (biorxiv.org)
  • Using crosses between warm-adapted and cold-adapted mice, we found that mutations acting in a context specific manner ( cis -regulatory and tissue-specific changes) predominate expression divergence and are more likely to be involved in parallel evolution. (biorxiv.org)
  • This protocol is significant for creating and determining mind-body desired mutations in the genome of Pseudomonas aeruginosa, as well as the testing the effect of mutations on virulence reduction in a reproducible mouse model. (jove.com)
  • The K27M and G34R mutations induced several of the same pathways suggesting key shared oncogenic mechanisms including activation of neurogenesis and NOTCH pathway genes. (nature.com)
  • Here we report successful gene editing of H3.3K27M and G34R point mutations in human normal brain and pediatric glioma cells, generating pairs of otherwise isogenic cell lines that allowed us to define epigenetic and transcriptomic changes contributing to gliomagenesis in the native genomic context. (nature.com)
  • Taken together, our findings suggest striking overlap between putative mechanisms of K27M and G34R mutations and point to increased NOTCH signaling playing a key role in K27M-related gliomagenesis, resulting from aberrant gene derepression due to impaired H3K27me3 deposition at super-enhancers in H3.3 mutant cells. (nature.com)
  • To study the transformative effects of oncohistone mutations in human pediatric gliomas in an otherwise isogenic context, we used CRISPR-Cas9 gene editing to revert H3.3K27M mutations in glioma cells back to wild type (WT) while in parallel introducing H3.3K27M and G34R point mutations into human astrocytes and H3.3WT glioma cells (Fig. 1a ). (nature.com)
  • Many variants (also called mutations) have been identified in the ARG1 gene. (medlineplus.gov)
  • Loss of function mutations in conserved regions of the human arginase I gene. (medlineplus.gov)
  • The gene targeted was FST, which is responsible for making a protein called follistatin . (singularityhub.com)
  • The genetic study showed promising results in "silencing" the genes that translate into tau protein, the primary component behind dementia. (medicaldaily.com)
  • Scientists gave cancerous lab mice a gene therapy that turned off the production of the Myc protein, which causes tumor growth. (medicaldaily.com)
  • Almkvist O, Basun H, Wagner SL, Rowe BA, Wahlund LO, Lannfelt L (1997) Cerebrospinal fluid levels of alpha-secretase-cleaved soluble amyloid precursor protein mirror cognition in a Swedish family with Alzheimer disease and a gene mutation. (springer.com)
  • GSK3 inhibition in liver reduces expression of the gluconeogenic genes PEPCK (phosphoenolpyruvate carboxykinase), G6Pase (glucose-6-phosphatase), as well as IGFBP1 (insulin-like growth factor binding protein-1). (portlandpress.com)
  • Interestingly, insulin injection of wild-type mice, which activates PKB (protein kinase B) and inhibits GSK3 to a greater degree than feeding (50% versus 25%), does not repress these genes. (portlandpress.com)
  • Since multiple transcript and protein variants expressed by the same gene are, by definition, structurally distinct and need not to be functionally equivalent, the concept of gene orthology should be extended to the transcript level in order to describe evolutionary relationships between structurally similar transcript variants. (biomedcentral.com)
  • Additionally, we examined the protein level of calcitonin gene-related peptide (CGRP) in the spinal trigeminal nucleus caudalis using immunohistochemistry. (iasp-pain.org)
  • The coding sequence of a protein is generated from a gene by stitching together segments called exons while editing out the intervening segments. (hearingreview.com)
  • The normal function of the REST protein is to shut off genes that need to be active only in a very few cell types. (hearingreview.com)
  • Therefore one needs to follow up whole genome sequencing with other molecular profiling analyses or "omics": transcriptomics - gene expression profiling, proteomics - protein composition profiling, metabolomics - profiling of metabolites, and miR-omics - microRNA profiling. (biosafety-info.net)
  • Cytosolic T3-binding protein modulates dynamic alteration of T3-mediated gene expression in cells. (harvard.edu)
  • flanking region indicated the presence of a consensus motif that occurs in all milk-protein-encoding genes, except the kappa-casein-encoding gene. (eurekamag.com)
  • B ) Comparison of overall expression levels (represented as the highest FPKM values in the 35 tissues) between de novo and all other protein-coding genes ('De novo' and 'Other' on the x-axis). (elifesciences.org)
  • C ) Comparison of averages of intrinsic structural disorder scores between de novo and all other protein-coding genes. (elifesciences.org)
  • D ) Comparison of fractions of sequence covered by hydrophobic clusters between de novo and all other protein-coding genes. (elifesciences.org)
  • Mice with neurologic signs and positive for protease-resistant prion protein by Western blotting. (cdc.gov)
  • One passage on transgenic mice expressing bovine prion protein ( 7 ). (cdc.gov)
  • We performed enrichment, protein-protein interaction network , and transcription factor target gene analyses for these genes . (bvsalud.org)
  • The mHTT and wtHTT groups showed the highest number of differentially expressed genes compared to the BACHD mouse model. (lu.se)
  • The following LCE1M gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). (genscript.com)
  • This figure increases to 87% using less stringent criteria for gene structure similarity, thus implying that for about 13% of the human RefSeq annotated genes (and about 25% of the corresponding transcripts) we could not identify any mouse transcript showing sufficient similarity to be confidently assigned as a splicing ortholog. (biomedcentral.com)
  • Over the next decade, EUMODIC said it plans to identify roles for 20,000 mouse genes that will be stored in a database of mouse gene functions by the International Mouse Phenotyping Consortium (IMPC). (the-scientist.com)
  • A mouse model study implicated alterations in bivalent genes in mutant H3.3 downstream function 20 . (nature.com)
  • A European consortium identifies phenotypes for 320 genes, assigning new functions for half. (the-scientist.com)
  • Researchers have assigned phenotypes to around 150 mouse genes, according to a study published in Nature Genetics this week (July 27). (the-scientist.com)
  • The researchers examined more than 27,000 mice to categorize the phenotypes the mice developed as a result. (the-scientist.com)
  • cis -regulated genes under selection influenced phenotypes such as body size, fat content, immune functioning, and skeletal morphology. (biorxiv.org)
  • and RNA sequencing, which identifies only genes turned "on" in a particular tissue, such as the brain. (sciencedaily.com)
  • Ezh2 orchestrates gene expression for the stepwise differentiation of tissue-specific stem cells. (genscript.com)
  • Cartilage thickness and proteoglycan staining of articular cartilage in the knee joints of 12-week-old KO mice were increased as compared to controls, with higher cellularity throughout the tissue. (bepress.com)
  • Results We investigated the alteration of genome-wide transcription in mouse skeletal muscle tissue (rectus femoris muscle) during aging using a high-throughput sequencing technique. (figshare.com)
  • Here, we studied gene expression in liver and brown adipose tissue in two wild-derived strains of house mice that independently adapted to cold, northern environments, and we compared them to a strain of house mice from a warm, southern environment. (biorxiv.org)
  • Second, we discovered that expression evolution occurred largely at tissue-specific and cis -regulated genes, and that these genes were over-represented in parallel cases of evolution. (biorxiv.org)
  • These results demonstrate that parallel patterns of gene expression in mice that have independently adapted to cold environments are driven largely by tissue-specific and cis -regulatory changes, providing insight into the mechanisms of adaptive gene regulatory evolution at the earliest stages of divergence. (biorxiv.org)
  • Excel file with five tabs, providing (i) the legends for the tissue sources, (ii) the table for the gene lists, (iii) the information for the reassembled transcripts, (iv) the proteomic evidence shown in detail, and (v) the accession numbers for the ENCODE data. (elifesciences.org)
  • Chromosomal assignments of genes for tissue plasminogen activator and urokinase in mouse. (nih.gov)
  • The genes encoding the two plasminogen activators, tissue plasminogen activator and urokinase, were mapped to mouse chromosomes using probes derived from the respective mouse cDNAs. (nih.gov)
  • Tissue plasminogen activator and urokinase cosegregated with mouse chromosomes 8 and 14, respectively. (nih.gov)
  • Previously, only large regions of a chromosome could be associated with a particular mouse trait or behavior. (sciencedaily.com)
  • For example, they report that the mouse gene Azi2 is associated with the effects methamphetamines have on body movements, and that mouse gene Zmynd11 is associated with anxiety-like behavior. (sciencedaily.com)
  • Overexpression of GSK3 in cells antagonizes insulin regulation of these genes. (portlandpress.com)
  • In the present study we demonstrate that regulation of these three genes by feeding is normal in mice that express insulin-insensitive GSK3. (portlandpress.com)
  • Botond Banfi, MD, PhD and Yoko Nakano, PhD, lead authors of the current study, discovered that mouse Rest is regulated through an unusual mechanism in the sensory cells of the inner ear, and this regulation is critical for hearing in mice. (hearingreview.com)
  • These results indicate that endogenous NT-3 levels can influence the rate of epileptogenesis, and suggest a link between NT-3 and BDNF gene regulation in dentate granule cells. (lu.se)
  • Changes in gene regulation have long been appreciated as a driving force of adaptive evolution, however the relative contributions of cis- and trans- acting changes to gene regulation over short evolutionary timescales remain unclear. (biorxiv.org)
  • Instances of recent, parallel phenotypic evolution provide an opportunity to assess whether parallel patterns are seen at the level of gene expression, and to assess the relative contribution of cis - and trans -changes to gene regulation in the early stages of divergence. (biorxiv.org)
  • The aim of this study was to identify the genes and pathways underlying the growth of the mouse sclera during postnatal development. (molvis.org)
  • In AAV groups, from the combined limma with GSEA using ClusterProfiler, we found both shared and unique gene sets and pathways for mice with wtHTT overexpression compared to mice with mHTT overexpression. (lu.se)
  • Multiple biosynthetic pathways such as sterol synthesis were among the top shared processes, where both unique and shared genes constituted leading-edge subsets. (lu.se)
  • In conclusion, mice with targeted overexpression of HTT (wtHTT or mHTT) in the hypothalamus show dysregulation of pathways, of which there are subsets of shared pathways and pathways unique to either wtHTT or mHTT overexpression. (lu.se)
  • namely, metabolic pathways, regulatory pathways, and molecular assemblies, and maintains gene catalogs for all the organisms that have be. (bvsalud.org)
  • All 11 selected SNPs within candidate genes were verified by polymerase chain reaction (PCR) sequencing. (bmj.com)
  • Differential expression of six of seven candidate genes were confirmed. (bmj.com)
  • We used population level selection scans in wild animals to identify regions of the genome under selection and combined these findings with the gene expression data to identify candidate genes underlying adaptation to novel environments. (biorxiv.org)
  • Most importantly, the researchers say, the chemically-oriented process resulted in no off-target effects from treatment, which has been a major concern for other gene editing tools like CRISPR/Cas9, which can erroneously damage untargeted DNA and cause complications. (uconn.edu)
  • CRISPR-Cas9 editing technology-by virtue of its speed and unprecedented precision-has been a boon for scientists trying to understand the role of genes in disease. (biosafety-info.net)
  • We describe here an anatomically comprehensive digital atlas containing the expression patterns of approximately 20,000 genes in the adult mouse brain. (nih.gov)
  • In a study, researchers used 1,200 outbred mice, which are more similar to a natural population, to test a new cost-effective technique to search for specific genes linked with 66 different physical and behavioral traits. (sciencedaily.com)
  • That's because researchers have mostly been using crosses between inbred strains, making it impossible to pinpoint specific genomic regions or individual genes associated with a trait. (sciencedaily.com)
  • With this approach, the researchers found numerous associations between genes and the traits they are associated with. (sciencedaily.com)
  • The antibiotics' beneficial effects, discovered in experiments in the lab and with mice, are unrelated to their ability to kill bacteria, the researchers report in the Jan. 6 issue of Nature. (scienceblog.com)
  • Of the antibiotics, penicillin protected nerve cells best in laboratory dishes, but ceftriaxone had the best results in mice, probably because it more easily crosses into the brain from the blood, the researchers report. (scienceblog.com)
  • In a series of experiments, the researchers discovered that the antibiotics activate the gene encoding glutamate's main transporter in brain cells. (scienceblog.com)
  • Going into the study, the researchers worried the muscle growth catalyzed by the gene therapy could harm the heart, mainly through thickening of the heart's walls. (singularityhub.com)
  • March 17, 2023 -- Researchers in China successfully restored the vision of mice with retinitis pigmentosa, a major cause of blindness in humans. (scienceboard.net)
  • The researchers also performed a variety of behavioral tests, which confirmed that the gene-edited mice retained their vision even into old age. (scienceboard.net)
  • Researchers at the Francis Crick Institute have developed a database of gene activity in mice, which could reduce the use of animals in medical research. (verdict.co.uk)
  • Although the ethics of animal testing may be hotly debated, currently, when studying a particular disease, researchers create, infect, cull, obtain samples from mice and extract and sequence the RNA. (verdict.co.uk)
  • Accessible via an app, researchers will be able to view the activity of any gene across a range of diseases without needing their own mice. (verdict.co.uk)
  • Using sequencing technology, researchers measured gene activity across the different diseases and analysed the genetic signatures associated with these diseases to help understand the immune response. (verdict.co.uk)
  • Researchers anywhere in the world can now view this information on the gene activity in the lungs and blood of mice infected with a range of pathogens including the , influenza virus, the respiratory syncytial virus, and the house dust mite allergen. (verdict.co.uk)
  • This is the result of a ten-year project, with researchers first used a technique called microarray back in 2009 to detect gene activity in lung and blood samples. (verdict.co.uk)
  • A team of researchers, including UConn assistant professor of pharmaceutics Raman Bahal , has, for the first time, corrected a genetic mutation in a mammalian fetus using a targeted gene editing technique. (uconn.edu)
  • In the current study, the researchers injected the nanoparticle suspension into the amniotic fluid of pregnant mice whose fetuses carried a genetic mutation that causes beta thalassemia, a blood disorder that reduces the production of hemoglobin and causes a severe form of anemia. (uconn.edu)
  • Untreated mice with the genetic disorder died much earlier, the researchers found. (uconn.edu)
  • While the researchers hoped to see an increase in KITL production within these infertile mice, they were somewhat stunned to find that the rodents actually became capable of reproduction following treatment. (iflscience.com)
  • A crucial clue to explain the DFNA27 form of progressive deafness arose from later studies of the mouse RE1 Silencing Transcription Factor, or Rest, gene conducted by researchers at the University of Iowa. (hearingreview.com)
  • Because the human counterpart of the mouse Rest gene is located in the DFNA27 region, the Iowa and NIDCD researchers teamed up to reexamine the mystery of DFNA27 progressive deafness. (hearingreview.com)
  • The number of stimulations required to evoke focal (grade 1 and 2) seizures did not differ between the groups, but the NT-3 mutants spent a considerably longer period of time (13 +/- 3 days) than wild-type mice (2 +/- 1 days) in grade 2 seizures. (lu.se)
  • BACHD mice with ubiquitous expression of full-length mutant HTT (mHTT) and wild-type mice with targeted hypothalamic overexpression of either wild-type HTT (wtHTT) or mHTT fragments. (lu.se)
  • They used mice with retinitis pigmentosa caused by a mutation in the PDE6β gene, which encodes a critical enzyme. (scienceboard.net)
  • When programmed to target the mutant PDE6β gene, the PE SpRY system was able to correct the mutation and restore the enzyme's activity in the retinas of the affected mice. (scienceboard.net)
  • But mice who had the PDE6β gene mutation corrected through the PE SpRY system had much thicker retinas containing numerous rod cells. (scienceboard.net)
  • Yet in a paper appearing in the international science journal Nature Communications , scientists from UConn, Yale University, and Carnegie Mellon University describe how they corrected a genetic mutation in fetal mice using an intravenous injection of nanoparticles loaded with a combination of donor DNA and synthetic molecules known as peptide nucleic acids or PNAs. (uconn.edu)
  • The investigators localized the deafness-causing mutation to a region on chromosome four called DFNA27 , which includes a dozen or so genes. (hearingreview.com)
  • Glioma lines that were edited to correct the pathogenic H3F3A mutation exhibited less invasiveness and growth in xenografted mice than their mutated counterparts. (nature.com)
  • Yet genomic studies in mice have lagged behind those in humans. (sciencedaily.com)
  • This record is derived from a genomic sequence (NC_000071.6) annotated using gene prediction method: Gnomon. (genscript.com)
  • Alignment of the ORF of Gm13030 among the mouse populations, subspecies and related species where the sequence could be identified in the respective genomic region. (elifesciences.org)
  • To investigate the possible effects of the expression of this tightly regulated gene in vivo, we produced transgenic mice in which CD40L expression was deregulated. (nki.nl)
  • Béringue V , Le Dur A , Tixador P , Reine F , Lepourry L , Perret-Liaudet A , Prominent and persistent extraneural infection in human PrP transgenic mice infected with variant CJD. (cdc.gov)
  • Mice are one of the most commonly used laboratory organisms, widely used to study everything from autism to infectious diseases. (sciencedaily.com)
  • Genome-wide association studies -- matching genes to diseases and other traits -- have been a big deal in human genetics for the past decade," said Abraham Palmer, PhD, professor of psychiatry at University of California San Diego School of Medicine. (sciencedaily.com)
  • Esvelt says that the feedback is still coming in, but the initial reaction from Nantucket is pushing the project toward aiming to develop mice resistant not just to Lyme disease but to other tick-borne diseases , like babesiosis. (wbur.org)
  • Precision genome editing agents can enable gene correction and disease rescue in inherited retinal diseases, according to University of California, Irvine. (scienceboard.net)
  • This study provides a benchmark for gene editing technology where diseases can be treated at a very early stage of development," says Bahal, a recent arrival to UConn who performed the research when he was an associate scientist working in the Yale lab of Dr. Peter Glazer, a professor of therapeutic radiology and genetics. (uconn.edu)
  • Gene expression of eye diseases should be studied as early as postnatal weeks 1-2 to ensure that any changes in gene expression pattern during disease development are detected. (molvis.org)
  • The new study includes a table with almost 80 recent experimental interventions with mammals (mostly mice) that suggest that it is possible to prolong life or treat age-associated diseases. (medscape.com)
  • Mus musculus predicted gene, 21698 (Gm21698), mRNA. (genscript.com)
  • The findings may be clinically relevant, as humans have analogous genes, Palmer said. (sciencedaily.com)
  • If the muscle-building gene therapy eventually reaches a point where it can be used in humans, though, the research team isn't viewing it as a quick-fix health hack. (singularityhub.com)
  • Overall, they conclude that "our results, although in mice, suggest that some cases of female infertility in humans may be treated by AAV-mediated gene therapy. (iflscience.com)
  • In humans, the wide variety of carcinogens and varying degrees of exposure make identifying the predisposing genes difficult, but in a mouse model, such confounding variables can be controlled. (bmj.com)
  • Identification of the genes predisposing to mouse lung cancer could have considerable implications for diagnosis, treatment, or chemoprevention of lung cancer in humans. (bmj.com)
  • The meta-analysis of these data identified 76 upregulated and 37 downregulated genes common to both humans and mice . (bvsalud.org)
  • Functional and evolutionary analyses of genes are usually performed on one or few representatives of their expression products, i.e. transcripts and proteins. (biomedcentral.com)
  • All nucleotide sequences are aligned to the mm10 mouse reference, and amino acids are translated according to the reference frame (note that this implies that the frameshifts in the individual sequences are not shown). (elifesciences.org)
  • To analyze microarray datasets (34760 variables) and obtain functional implications of differential expression patterns, we used Linear Models for Microarray Data (limma) followed by Gene Set Enrichment Analysis (GSEA) using ClusterProfiler. (lu.se)
  • In this study, we analyzed heat stress -responsive genes using a meta-analysis of numerous gene expression datasets from the public database. (bvsalud.org)
  • These modules represent clusters of genes that are co-regulated and can often be annotated to determine their function and known physiological roles. (verdict.co.uk)
  • In K27M lines, the decrease of H3K27me3 was especially pronounced at super-enhancers of specific gene clusters, including the NOTCH pathway genes. (nature.com)
  • In general, mRNA levels of ECM and collagen genes have been found to be downregulated in both the adult mouse sclera [ 6 ] and cornea [ 7 ] when compared with samples from an earlier developmental stage. (molvis.org)
  • Most previous studies had missed exon 4 in the Rest gene because this small exon is not edited into the Rest mRNA in most cells. (hearingreview.com)
  • In situ hybridization showed 30% reduction of basal NT-3 mRNA levels and lack of upregulation of TrkC mRNA expression at 2 h after a generalized seizure in dentate granule cells of the NT-3+/- mice, whereas the seizure-evoked increase in brain-derived neurotrophic factor (BDNF) and TrkB mRNA levels was enhanced. (lu.se)
  • Here, based on significant liver contribution to the catabolism of the branched chain amino acid leucine, we develop a liver-directed adeno-associated virus (AAV8) gene therapy for MSUD. (nature.com)
  • The study authors, therefore, used a type of virus called an adeno-associated virus (AAV) to introduce a gene for the production of KITL into female mice that lacked this key reproductive molecule. (iflscience.com)
  • Total RNA was isolated from each of 30 single mouse sclera (n=30, 6 sclera each from 1-, 2-, 3-, 6-, and 8-week-old mice) and reverse-transcribed into cDNA using a T7-N 6 primer. (molvis.org)
  • The resulting cDNA was fragmented, labeled with biotin, and hybridized to a Mouse Gene 1.0 ST Array. (molvis.org)
  • Gene Set Enrichment Analysis (GSEA) with leading-edge analysis showed that suppressed sterol- and cholesterol metabolism were shared between hypothalamic wtHTT and mHTT overexpression. (lu.se)
  • Instead, the drugs squelch the dangerous side of a brain chemical called glutamate by turning on at least one gene, thereby increasing the number of "highways," or transporters, that remove glutamate from nerves. (scienceblog.com)
  • Rats and mice that received daily ceftriaxone for up to a week had triple the usual amount of the transporter, known as GLT1, in their brain cells, an effect that lasted for up to three months after treatment. (scienceblog.com)
  • Molecular approaches to understanding the functional circuitry of the nervous system promise new insights into the relationship between genes, brain and behaviour. (nih.gov)
  • Differential promoter methylation and histone modification contribute to the brain specific expression of the mouse Mbu-1 gene. (nih.gov)
  • Characterization of a novel mouse brain gene (mbu-1) identified by digital differential display. (nih.gov)
  • Taip2 is a novel cell death-related gene expressed in the brain during development. (nih.gov)
  • Raw RNA locations of a sagittal mouse brain section produced by EEL FISH for 440 genes. (figshare.com)
  • Here, we used a gene therapy approach to directly overexpress APPsα in the brain using AAV-mediated gene transfer and explored its potential to rescue structural, electrophysiological and behavioral deficits in APP/PS1∆E9 AD model mice. (springer.com)
  • We have also attempted to verify a series of differentially expressed candidate susceptibility genes to lung tumours in our previous microarray analysis with semiquantitative reverse transcriptase PCR (RT-PCR). (bmj.com)
  • The ARG1 gene is found on chromosome 6 . (medlineplus.gov)
  • The C57BL/6J (B6) and DBA/2J (D2) inbred strains of mice exhibit an age-related hearing loss (AHL) due to a recessive gene (Ahl) that maps to Chromosome 10. (cdc.gov)
  • The present study demonstrates segregation for the putative Ahl gene and mapping of such a gene to Chromosome 10, consistent with other independent mapping of Ahl for AHL in 10 strains of mice [Johnson et al. (cdc.gov)
  • The recent identification of mammalian circadian clock genes now makes it possible to examine time zone adjustments from the perspective of molecular events within the suprachiasmatic nucleus (SCN), the principal circadian oscillator. (jneurosci.org)
  • We establish and characterize the Bckdha ( branched chain keto acid dehydrogenase a ) −/− mouse that exhibits a lethal neonatal phenotype mimicking human MSUD. (nature.com)
  • BCKDHA gene transfer rescued the lethal phenotype. (nature.com)
  • National Eye Institute scientists have mapped the genetic architecture that determines gene expression and disease phenotype in human age-related eye. (scienceboard.net)
  • In other words, the identification of true orthology relationships between gene products now should progress beyond primary sequence and "splicing orthology", consisting in ancestrally shared exon-intron structures, is required to define orthologous isoforms at transcript level. (biomedcentral.com)
  • The observation that alternative splicing produces large numbers of alternative transcripts and proteins, some of them conserved across species and others truly species-specific, suggests that, still maintaining the conventional definition of gene orthology, a new concept of "splicing orthology" can be defined at transcript level. (biomedcentral.com)
  • Strict orthology of genes requires vertical descent from a common ancestor in the absence of intervening gene duplications, and it is often interpreted as indicating functional equivalence. (biomedcentral.com)
  • second, to provide a more detailed annotation and quantification of true human-mouse orthologous transcripts defined as transcripts of orthologous genes exhibiting the same splicing patterns. (biomedcentral.com)
  • Together, our work describes the gene regulatory dynamics of rapid environmental adaptation, and the repeatability of these patterns over multiple instances of adaptation. (biorxiv.org)
  • Past studies have mapped four susceptibility loci (Pas1-4) for pulmonary adenoma in which A/J and C57BL/6J (B6) mice have different alleles that affect incidence and multiplicity of tumours. (bmj.com)
  • 6 Inbred mouse strains vary in their susceptibility to cancer and two extreme strains are A/J (susceptible) and C57BL/6J (B6, resistant). (bmj.com)
  • Mouse pulmoary adenoma susceptibility loci (Pas) as mapped in crosses of strains A/J and C57BL/6. (bmj.com)
  • Genome editing was previously used to restore vision in mice with the genetic eye disease Leber congenital amaurosis, which affects the retinal pigment epithelium, a layer of non-neuronal cells in the eye that supports the light-sensing rod and cone photoreceptor cells. (scienceboard.net)
  • Mice born with a genetic defect that renders them infertile have given birth to litters of pups thanks to a gene-editing technique. (iflscience.com)
  • Previously, classical genetic studies involving cross breeding of mouse strains with differing susceptibilities have identified chromosomal areas associated with predisposition to developing spontaneous and chemically induced lung adenomas. (bmj.com)
  • Genetic basis for susceptibility to noise -induced hearing loss in mice. (cdc.gov)
  • These genetic effects implicate the Ahl gene as contributing to NIHL susceptibility. (cdc.gov)
  • Middle: In Rest mutant mice, hair cells are disorganized, and stereocilia barely visible. (hearingreview.com)
  • Bottom: In Rest mutant mice treated with HDAC inhibitors, organization and structure of hair cells is partially restored. (hearingreview.com)
  • H3.3 mutant gliomas are also particularly sensitive to NOTCH pathway gene knockdown and drug inhibition, reducing their viability in culture. (nature.com)
  • More recently, increased expression of NOTCH pathway genes was implicated in some DIPGs and NOTCH path inhibition contributed to reduced tumor growth in culture 14 , but the specificity of these treatments for H3.3 mutant cells remains unclear. (nature.com)
  • And now we can think about targeting these genes or the proteins they encode with novel therapeutics. (sciencedaily.com)
  • In practice, two genes α and β are usually annotated as orthologous if their products are the "best reciprocal hits": that is, one of the proteins encoded by the α gene of species A has, as its most similar counterpart in species B, one of the proteins encoded by the β gene, and vice versa. (biomedcentral.com)
  • Collectively, our results suggest a mutually exclusive role for Ring1B and Suv39h1 in regulating distinct chromatin states at key developmental genes and propose a novel mechanism by which lineage specification can be reinforced during early development. (cnrs.fr)
  • This study has been extremely gratifying since this is the first time these two genes have been identified as playing roles in psychological conditions," Palmer said. (sciencedaily.com)
  • June 14, 2022 A new study reveals that opioid analgesic fentanyl may induce autism-like behaviors in young male and female mice. (sciencedaily.com)
  • Because we study ALS, we tested the drugs in a mouse model of that disease, but this is much bigger than ALS. (scienceblog.com)
  • In a study done by a team at Washington University in St. Louis' medical school, mice quickly built muscle mass and reduced obesity after receiving the therapy, even while eating a diet high in fat and not exercising. (singularityhub.com)
  • This study was conducted to evaluate ultrastructure, oxidative stress, and apoptosis in sperm of mice treated with 150 mg/l NaF for 49 days. (greenmedinfo.com)
  • The fetal research study was patterned after an earlier successful trial of the gene editing process in anemic adult mice. (uconn.edu)
  • Bahal served as the lead author of the adult mice study, which was reported in Nature Communications in 2016. (uconn.edu)
  • A conditional knockout resource for the genome-wide study of mouse gene function. (genscript.com)
  • In the present study, we combined masseter muscle tendon ligation (MMTL)-produced myogenic TMD with systemic injection of nitroglycerin (NTG)-induced migraine-like hypersensitivity in mice. (iasp-pain.org)
  • Sustained APPsα overexpression in aged mice with already preexisting pathology and amyloidosis restored synaptic plasticity and partially rescued spine density deficits. (springer.com)
  • Overexpression in mature T cells is compatible with life, but in one-third of the cases, mice developed atypical lymphoid proliferations which, occasionally, progressed into frank lymphomas. (nki.nl)
  • Note that the primary transmission of France (3) isolate was performed on both hemizygous and homozygous mice. (cdc.gov)
  • new nomenclature, gene organization, and divergence of human and rodent genes. (genscript.com)
  • This stably repressed state is linked with a loss of gene priming for transcription through the exclusion of PRC1 (Ring1B) and RNA polymerase II complexes at bivalent, lineage-inappropriate genes upon trophoblast lineage commitment. (cnrs.fr)
  • Based on these findings, it was proposed that oxidative stress induced by excessive ROS may trigger sperm apoptosis through mitochondrial impairment, resulting in decreased fertility in mice exposed to fluoride. (greenmedinfo.com)
  • Transcriptional abundance and structural features of 119 candidate de novo genes in the mouse lineage. (elifesciences.org)
  • 6 ], the transforming growth factor beta 1 ( Tgfβ1 ) gene and several collagen genes were significantly downregulated in 8-week-old B6 mice scleras when compared with 3-week-old B6 mice scleras. (molvis.org)
  • If every condition, process, and trait in our bodies is tightly linked to our genes, it's conceivable that almost any aspect of our health could be manipulated using gene therapy and related tools. (singularityhub.com)
  • Even though gene therapy is one of the most promising approaches to cure human hyper IgM syndrome, these results suggest that when we modify very tightly regulated genes such as cytokines or other growth factors, particular care has to be taken to avoid excessive stimulation of the target cells. (nki.nl)
  • With the release of a genome wide SNPs database, it has become feasible to analyse these genetically determined QTLs for genes polymorphic in these strains. (bmj.com)
  • though various " exercise pills " have successfully mimicked the effects of regular cardiovascular activity in mice, scientists still don't fully understand how, at a molecular level, exercise has the effects it does on the human body. (singularityhub.com)
  • Human Gene Therapy Methods 23:18-28. (springer.com)
  • We observed an identical exon/intron structure for 32% of human and mouse orthologous genes. (biomedcentral.com)
  • A typical human gene, then, produces multiple transcript isoforms (ten per gene, on average), that can differ both in their coding and untranslated regions. (biomedcentral.com)
  • A small-molecule drug is reportedly the first to preserve hearing in a mouse model of an inherited form of progressive human deafness, report investigators at the University of Iowa , Iowa City, and the National Institutes of Health's National Institute on Deafness and Other Communication Disorders (NIDCD) . (hearingreview.com)
  • The plasminogen activator genes thus fall into two syntenic groups that are conserved in human and mouse. (nih.gov)
  • Mouse model for human arginase deficiency. (medlineplus.gov)
  • Meta-Analysis of Heat-Stressed Transcriptomes Using the Public Gene Expression Database from Human and Mouse Samples. (bvsalud.org)
  • We obtained 322 human and 242 mouse pairs as the heat exposure and control data. (bvsalud.org)
  • Structural changes and neuropathology in the hypothalamus have been suggested to contribute to the non-motor manifestations of Huntington's disease (HD), a neurodegenerative disorder caused by an expanded cytosine-adenine-guanine (CAG) repeat in the huntingtin (HTT) gene. (lu.se)
  • As an autosomal recessive monogenic disease, MSUD represents an ideal target for liver-directed gene therapy since clinical OLT data suggests that incomplete restoration of liver BCKD enzyme activity (representing 9-13% of body BCKD activity 10 ) is fully therapeutic. (nature.com)
  • This constitutes a strong rationale for testing liver gene transfer as a therapeutic option for MSUD. (nature.com)
  • Newly developed image-based informatics tools allow global genome-scale structural analysis and cross-correlation, as well as identification of regionally enriched genes. (nih.gov)
  • 3 Identification of the genes predisposing to cancer could yield targets for treatment or chemoprevention. (bmj.com)
  • MIT biologist Kevin Esvelt proposed the idea for genetically modifying mice to fight Lyme disease on Nantucket last month . (wbur.org)
  • Deafness is genetically dominant in the LMG2 family, meaning that a child needs to inherit only one copy of the defective gene from a parent to have progressive hearing loss. (hearingreview.com)
  • Here, we describe a simple and reproducible protocol of mouse model of infection to evaluate the attenuation of the genetically modified strains of Pseudomonas aeruginosa in comparison to the United States Food and Drug Administration (FDA)-approved Escherichia coli for commercial applications. (jove.com)
  • An international group of scientists working with the European Mouse Disease Clinic (EUMODIC) altered 320 genes within individual mouse lines and put the animals through a battery of tests to understand what each gene did. (the-scientist.com)