• Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. (nature.com)
  • We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. (nature.com)
  • Figure 2: Targeted sequencing highlights genes reaching significance for de novo mutations and private disruptive variant burden. (nature.com)
  • Recurrent de novo mutations implicate novel genes underlying simplex autism risk. (nature.com)
  • Off-target mutations were not detected in the mutant plants. (isaaa.org)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • The CRISPR/Cas9 is a highly effective gene editing reagent that can generate site-directed double-stranded breaks (DSB) resulting in frame-shift mutations. (usda.gov)
  • Plants recovered from tissue culture were first screened for targeted mutations using combinations of the cleaved amplified polymorphic sequences (CAPS) or the target amplicon clone and sequencing assays (TACAS). (usda.gov)
  • Using these tools, hundreds of plants could be rapidly genotyped and in the transgenic plants identified, approximately 57% exhibited targeted mutations. (usda.gov)
  • Mutations/deletions in separate genes, each of which alone causes a minimal phenotype, but when combined in the same cell results in a more severe fitness defect or lethality under a given condition. (thebiogrid.org)
  • The work, published Sept. 8 in Cancer Research , focused on analyses of targeted next-generation sequence data of more than 600,000 mutations from more than 66,000 tumors in 51 cancer types from the AACR (American Association for Cancer Research) Project GENIE (Genomics Evidence Neoplasia Information Exchange) registry, which pools next-generation sequence data from multiple academic institutions. (news-medical.net)
  • This work generated a comprehensive atlas of both co-occurring and mutually exclusive mutations among RAS and other genes at an unprecedented resolution. (news-medical.net)
  • When treating patients who have RAS-mutant tumors, clinicians must consider clinical outcomes and the tumor's aggressiveness as well as co-mutations and patient characteristics such as gender, racial background and age, Anagnostou says. (news-medical.net)
  • Our study shows that you need to consider who the host is and what the genetic makeup is of the tumor, because RAS-mutant tumors with different co-mutations have completely different profiles and clinical behavior. (news-medical.net)
  • They first looked at the distribution and heterogeneity, or variations, of mutant RAS across cancer types and co-occurring mutations. (news-medical.net)
  • Meanwhile, Schreiber and his colleagues particularly examined which molecules CTNNB1 mutant lines were sensitive to, as mutations in CTNNB1, the transcription factor b-catenin gene, are found in a number of cancers, though a targeted treatment aimed at them has yet to be found. (genomeweb.com)
  • They also tested the sensitivity of CTNNB1 mutant lines harboring mutations in their degradation boxes and saw that they had sensitivity levels similar to the other mutant lines. (genomeweb.com)
  • Mutations in the HADHA and HADHB genes cause mitochondrial trifunctional protein deficiency. (medlineplus.gov)
  • Mutations in the HADHA or HADHB genes that cause mitochondrial trifunctional protein deficiency disrupt all three functions of this enzyme complex. (medlineplus.gov)
  • which means both copies of the gene in each cell have mutations. (medlineplus.gov)
  • SCID results from mutations in any of more than 15 known genes. (medscape.com)
  • Synaptic, transcriptional and chromatin genes disrupted in autism. (nature.com)
  • in an operon with an upstream PurR/LacI-type transcriptional regulator gene, named amlR ( ACSP50_2475 ), and a gene downstream ( ACSP50_2473 ) encoding a GGDEF-EAL-domain-containing protein putatively involved in c-di-GMP signaling. (frontiersin.org)
  • Although AmlR apparently is a local transcriptional regulator of the aml operon, the Δ amlR strain shows severe growth inhibitions on glucose and - concomitantly - differential transcription of several genes of various functional classes. (frontiersin.org)
  • Transcriptional regulation information for a gene, including any predicted DNA binding site motifs ( YeTFaSCo ) for the gene's protein product, as well as any of its targets (genes it regulates) or regulators (genes that regulate it), based on experimental evidence. (yeastgenome.org)
  • This table lists putative transcriptional regulatory targets for the central gene represented on this page. (yeastgenome.org)
  • Reduction of viability correlated with increased and selective transcription of p53 target genes such as BTG2, p21, PUMA, FAS, TNF, and TNFRSF10B, which promote apoptosis and cell cycle arrest, suggesting compound-mediated transcriptional activation of the Y220C mutant. (rcsb.org)
  • Finally, we used gene knockout strains to validate the potential target genes related to ethanol tolerance. (biomedcentral.com)
  • f) Deduced by comparison of the two gene essentiality datasets obtained independently in the P. aeruginosa strains PA14 and PAO1. (wikipedia.org)
  • In this manner, cnr null mutant derivatives of strains TA1535 and TA1538 were constructed, and named YG7131 and YG7127, respectively. (unboundmedicine.com)
  • After the introduction of plasmid pKM101, the sensitivities of the strains YG7132 and YG7128, the cnr-null mutants of TA98 and TA100, respectively, against several nitro compounds were compared with those of the conventional cnr-deficient strains TA98NR and TA100NR and the wild-type strains TA98 and TA100. (unboundmedicine.com)
  • These results suggest that the cnr gene of S. typhimurium is a counterpart of the nfsB and nfnB genes of E. coli, and that the newly constructed cnr-deletion strains are useful to assess the role of nitroreductases in the metabolic activation of mutagenic nitro compounds. (unboundmedicine.com)
  • TY - JOUR T1 - Targeted disruption of the gene encoding the classical nitroreductase enzyme in Salmonella typhimurium Ames test strains TA1535 and TA1538. (unboundmedicine.com)
  • These targets were identified based on the presence of predicted regulator binding sites or experimental regulator binding in the target promoter, and/or changes in the target gene's transcript levels in regulator mutant strains. (yeastgenome.org)
  • High-throughput robotic genetic technologies can be used to study the fitness of many thousands of genetic mutant strains of yeast, and the resulting data can be used to identify novel genetic interactions relevant to a target area of biology. (lu.se)
  • the resistance pattern to -lactams of these strains was determined by using the disc diffusion and E-test methods followed by molecular methods such as PCR of bla et bla genes. (who.int)
  • In Saccharomyces cerevisiae (budding yeast) 15-20% of all genes are essential. (wikipedia.org)
  • The phenotype of the GPI8 null mutants was analysed with the following findings: (1) Mutant promastigotes grow well in culture. (gla.ac.uk)
  • By looking at the phenotype of double mutants, you can figure out which factors are more proximal to the target genes and which are further upstream," he says. (the-scientist.com)
  • Addgene: Egg cell-specific promoter-controlled CRISPR/Cas9 efficiently generates homozygous mutants for multiple target genes in Arabidopsis in a single generation. (addgene.org)
  • With the development of CRISPR, gene essentiality has also been determined through inhibition of gene expression through CRISPR interference. (wikipedia.org)
  • However, scientist Shujuan Zhang from Shandong Academy of Agricultural Sciences in China and colleagues overcome this limitation by successfully targeting three wheat genes using CRISPR-Cas9 delivered via Agrobacterium -mediated genetic transformation. (isaaa.org)
  • In this chapter, we describe the construction of a CRISPR/Cas9 reagent that target the Pho2 genes. (usda.gov)
  • Targeted gene deletion mutants of amlE and amlR were constructed by use of the CRISPR/Cas9 technology. (frontiersin.org)
  • Using CRISPR technology, we knocked out the SPL-encoding gene and phenocopied the Lig 1 mutant. (usda.gov)
  • But interest in gene drives has surged with the advent of CRISPR-Cas9 gene editing, which can be used to copy a mutation from one chromosome into another. (bioedonline.org)
  • In late 2015, researchers reported a CRISPR gene drive that caused an infertility mutation in female mosquitoes to be passed on to all their offspring. (bioedonline.org)
  • This can result in a sequence that the CRISPR gene-drive system no longer recognizes, halting the spread of the modified code. (bioedonline.org)
  • CRISPR-based gene drives work by recognizing short genetic sequences, and individuals with differences at these sites would be immune to the drive. (bioedonline.org)
  • When CRISPR first burst onto the biotech scene, it rose to fame for its precise cutting prowess-break a target DNA strand, silence a gene. (singularityhub.com)
  • But more importantly, we've only begun scratching the surface of CRISPR gene editors. (singularityhub.com)
  • Furthermore, the adaptation of Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) and CRISPR-Associated protein 9 (CRISPR/Cas9) technology has dramatically improved gene editing efficiency at the single gene level. (portlandpress.com)
  • CRISPR/Cas9 screens, which have revolutionised human and model organism research, have not yet been implemented in malaria parasites due to the need for more complex CRISPR/Cas9 gene targeting vector libraries. (portlandpress.com)
  • Moreover, since more than half of Plasmodium genes are required for normal asexual blood-stage reproduction, and cannot be targeted using knockout methods, we discuss how CRISPR/Cas9 could be used to scale up conditional gene knockdown approaches to systematically assign function to essential genes. (portlandpress.com)
  • To interrogate the pathogenic potential of the discovered variant, we used an in vivo system in which the potential of the candidate gene to induce L-R asymmetry was tested by transient suppression and CRISPR/Cas9-induced deletions. (bmj.com)
  • Essential genes of single-celled organisms encode proteins for three basic functions including genetic information processing, cell envelopes and energy production. (wikipedia.org)
  • Most of the essential genes in viruses are related to the processing and maintenance of genetic information. (wikipedia.org)
  • A genetic study of x-ray sensitive mutants in yeast. (scienceopen.com)
  • We generated a global genetic interaction network for Saccharomyces cerevisiae, constructing more than 23 million double mutants, identifying about 550,000 negative and about 350,000 positive genetic interactions. (thebiogrid.org)
  • This comprehensive network maps genetic interactions for essential gene pairs, highlighting essential genes as densely connected hubs. (thebiogrid.org)
  • Researchers at the Johns Hopkins Kimmel Cancer Center, three other cancer centers and the Johns Hopkins Bloomberg School of Public Health compiled a comprehensive genetic architecture atlas for mutant RAS genes in human cancers. (news-medical.net)
  • They studied the cancer type-specific prevalence of KRAS , NRAS and HRAS mutant alleles (alternative forms of a gene) at codons (units of genetic code) 12, 13 and 61 in the overall population and stratified their results by patient age, race and gender. (news-medical.net)
  • Genetic mapping anchored the Lig 1 gene onto 2H within an '300-kb region. (usda.gov)
  • By studying the insects under more-natural conditions, scientists hope to better understand how to eradicate them - and malaria - using an emerging genetic-engineering technology called gene drives. (bioedonline.org)
  • The team found extreme genetic diversity, which would limit the list of potential gene-drive targets, the researchers say. (bioedonline.org)
  • Gene drives could result in the genetic isolation - in which populations do not mate with each other - of groups that manage to avoid inheriting the modified genetic code, he and his colleagues found. (bioedonline.org)
  • By surveying a species' natural genetic diversity, researchers could target genes common to all individuals. (bioedonline.org)
  • Behavioral and pharmacological studies of these mutants may provide insight into the genetic and mechanistic basis of K + channel dysfunction in vivo . (jneurosci.org)
  • Here, we review the arrival of genetic screens in malaria parasites to analyse parasite gene function at a genome-scale and their impact on understanding parasite biology. (portlandpress.com)
  • The genetic bases for these mutants have not yet been established. (nih.gov)
  • With the advances in BMT and gene therapy, patients now have a better likelihood of developing a functional immune system in a previously lethal genetic disease. (medscape.com)
  • Despite focusing on functional studies of correlatively pathogenic genes, less research has been done to investigate possibilities of their counter-regulatory genes as potential modulators of brain morphogenesis and therapeutic targets of malformation. (frontiersin.org)
  • These genes and pathways de-regulated by c-Src(mt) may provide suitable biomarkers or targets of therapeutic approaches for metastatic cells. (nih.gov)
  • Their four-year study of the RAS family - including the KRAS , NRAS and HRAS genes that are mutated in approximately one-third of all human cancers - found that the frequency of mutant RAS genes differs among various tumor types, age, sex and racial groups, and co-mutation patterns among RAS genes and other genes potentially can result in different clinical outcomes or identify new areas for therapeutic intervention. (news-medical.net)
  • To find out if this potentially therapeutic effect might be induced by a drug, the researchers examined the genes whose expression is controlled by SOX9 and FOXG1. (sciencedaily.com)
  • In addition, such studies could facilitate targeted expression of potentially therapeutic genes to the vestibular system epithelium. (nih.gov)
  • Further understanding of mechanisms rendering neurons sensitive to mutant huntingtin may reveal novel targets for therapeutic interventions. (lu.se)
  • [ 2 ] Multiple studies have confirmed that this mutation is unique to FLC, and support the role of DNAJB1-PRACA as a major driver of this tumor and as a key diagnostic and therapeutic target. (medscape.com)
  • [ 19 ] The apparent lack of a second-hit mutation in the genome of FLCs supports the role of DNAJB1-PRACA fusion protein as a major driver of this tumor and as a key diagnostic and therapeutic target. (medscape.com)
  • Essential genes are indispensable genes for organisms to grow and reproduce offspring under certain environment. (wikipedia.org)
  • Compared with single-celled organisms, multicellular organisms have more essential genes related to communication and development. (wikipedia.org)
  • In contrast to most single-celled organisms, viruses lack many essential genes for metabolism, which forces them to hijack the host's metabolism. (wikipedia.org)
  • Two main strategies have been employed to identify essential genes on a genome-wide basis: directed deletion of genes and random mutagenesis using transposons. (wikipedia.org)
  • Essential genes in bacteria. (wikipedia.org)
  • Essential genes from population screens include genes essential for fitness (see text). (wikipedia.org)
  • Gene knockout experiments are not possible or at least not ethical in humans. (wikipedia.org)
  • Scientists around the world are working to generate a targeted knockout mutation for every gene in the mouse genome through the Knockout Mouse. (jax.org)
  • This method can be applied to testing other pathogens and their mutants, as well as virulence infect in mice. (jove.com)
  • To evaluate their potential during hepatic gene therapy, C57BL/6 mice were administered with wild-type or optimal mutant AAVrh.10 and the luciferase transgene expression was documented by serial bioluminescence imaging at 14, 30, 45, and 72 days post-gene transfer. (nih.gov)
  • 5) GPI8 null mutants are capable of forming lesions in mice. (gla.ac.uk)
  • For example, the identification of regulatory sequences of genes expressed specifically in the vestibular system will allow the targeted introduction of foreign genes into the vestibular system of transgenic mice. (nih.gov)
  • 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)
  • 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)
  • 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)
  • In BACHD mice, few hypothalamic genes were differentially expressed compared to age-matched WT controls. (lu.se)
  • DNA sequencing indicated that a genomic deletion of 20-kb in the mutant occurred to the gene model HORVU.MOREX.r3.2HG0202650, which encodes a putative SQUAMOSA promoter-binding protein-like (SPL) transcription factor. (usda.gov)
  • How about forgo cutting a gene altogether, instead searching and replacing our genomic code without severing both DNA strands? (singularityhub.com)
  • With the use of the new technique, highly efficient and freely programmable base substitutions within the desired genomic locus, and target gene disrupted mutants were successfully obtained. (isaaa.org)
  • [ 5 ] The researchers characterized genomic architecture and inferred the clonal evolution using eight tumor biopsies and nine plasma samples collected over 1193 days of clinical follow-up using exome and targeted amplicon sequencing. (medscape.com)
  • Those gene functions are used to maintain a central metabolism, replicate DNA, translate genes into proteins, maintain a basic cellular structure, and mediate transport processes into and out of the cell. (wikipedia.org)
  • We present a method enabling simultaneous, ultra-high throughput single-cell barcoding of millions of cells for targeted analysis of proteins and RNAs. (nature.com)
  • Shiau and his team settled on a new class of drugs named BET bromodomain inhibitors, which target BRD4 and related proteins, and chose one named JQ1 that crosses the blood-brain barrier. (sciencedaily.com)
  • The perceived importance of GPI-anchored proteins makes the GPI biosynthetic pathway a good target for anti-parasite chemotherapy. (gla.ac.uk)
  • A number of normal (wild-type) and mutant proteins are susceptible to such misfolding and aggregation (amyloidogenic proteins), thus accounting for the wide variety of causes and types of amyloidosis. (msdmanuals.com)
  • In vivo cloning and characterization of a new growth suppressor protein TOE1 as a direct target gene of Egr1. (nih.gov)
  • Figure 3: Protein locations of private disruptive variants in new candidate NDD risk genes. (nature.com)
  • Here, we analyzed the mRNA expression signature of a constitutively active C-terminal mutant of c-Src, c-Src(mt), in comparison with its wild-type protein, c-Src(wt), in the human non-transformed breast epithelial cell line MCF-10A. (nih.gov)
  • Genome-wide transcriptome analysis revealed that c-Src(mt) de-regulated the expression levels of approximately 430 mRNAs whose gene products are mainly involved in the cellular processes of migration and adhesion, apoptosis and protein synthesis. (nih.gov)
  • Small-molecule CFTR modulators that directly target the mutant protein are powerful therapies that will likely benefit 90 percent of people with cystic fibrosis in the near future. (cff.org)
  • Both technologies have been primarily focused on measurement of protein epitopes, but have been used to measure nucleic acids such as targeted mRNA 11 , 12 . (nature.com)
  • While 2'-5'-oligoadenylate synthetase (OAS)-like gene was upregulated at the 6th hour post infection up to 3.3 fold, Mx protein was downregulated marginally. (usda.gov)
  • One of those genes turns out to be a protein named BRD4. (sciencedaily.com)
  • The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. (cancerindex.org)
  • What does this gene/protein do? (cancerindex.org)
  • Collection of domains associated with the protein based on various sources, including the protein coordinates for the domain, a domain Description, a Source and corresponding accession ID, and the number of S. cerevisiae genes that share the same domain. (yeastgenome.org)
  • The fusion protein, however, was unable to restore GPI8 function in the null mutant, therefore data on its localisation cannot be inferred. (gla.ac.uk)
  • green fluorescent protein (GFP) fusions revealed egl-2 expression in a subset of neurons and muscles that could explain the mutant behavioral defects. (jneurosci.org)
  • The original study identified epigenetic changes that occurred in gliomas with mutant IDH1 protein. (biospace.com)
  • The mutant huntingtin protein is ubiquitously expressed, but only certain brain regions are affected. (lu.se)
  • These genes each provide instructions for making part of an enzyme complex called mitochondrial trifunctional protein. (medlineplus.gov)
  • Despite studies of the effect of individual pathogenic genes, the counter-balance between multiple factors in controlling brain size remains unclear. (frontiersin.org)
  • Whether miR-7, one of the microcephaly-pathogenic genes, could act as a potential modulator to remedy macrocephaly remains obscure. (frontiersin.org)
  • In the first case, annotated individual genes (or ORFs) are completely deleted from the genome in a systematic way. (wikipedia.org)
  • In transposon-mediated mutagenesis, transposons are randomly inserted in as many positions in a genome as possible, aiming to disrupt the function of the targeted genes (see figure below). (wikipedia.org)
  • On the basis of genome-wide experimental studies and systems biology analysis, an essential gene database has been developed by Kong et al. (wikipedia.org)
  • We derived a list of thyroid-specific genes by selecting automatically those genes that are expressed at higher level in the thyroid than in any other organ in a normal tissue's genome-wide gene expression compendium. (scienceopen.com)
  • A team of Ludwig Cancer Research scientists has mapped out how a mutant version of the epidermal growth factor receptor (EGFR) known as EGFRvIII specifically drives critical processes that alter the reading of the genome to fuel the growth of the brain cancer glioblastoma multiforme and -- most important -- how each process is linked to the other. (sciencedaily.com)
  • EGFRIII changes the cell's internal signaling network, its uptake and use of nutrients, key elements of its gene-reading machinery known as transcription factors and its epigenetic landscape--the distribution of chemical tags that determines which parts of its genome are available for reading. (sciencedaily.com)
  • Lab experiments showed that the mutation increased in frequency as expected over several generations, but resistance to the gene drive also emerged, preventing some mosquitoes from inheriting the modified genome. (bioedonline.org)
  • Methods of ctDNA analysis include single-locus assays, targeted sequencing approaches, and whole genome sequencing. (medscape.com)
  • We also found that interferon (IFN) and IFN-inducible genes were regulated differentially in A/ph/CA/2373/98 (H9N2) virus infected Macrophages. (usda.gov)
  • The mHTT and wtHTT groups showed the highest number of differentially expressed genes compared to the BACHD mouse model. (lu.se)
  • By contrast, targeted deletion of genes such as Math1 (a mouse homolog of Drosophila proneural gene atonal ) or sequences encoding BRN 3.1 and BDNF produces congenital sensorineural anomalies of the inner ear. (nih.gov)
  • During the study, researchers examined several characteristics of the RAS genes. (news-medical.net)
  • In addition, NRAS mutant and KRAS mutant lines have increased sensitivity to the MEK1/2 inhibitor selumetinib, which has shown some activity in clinical trials, the researchers noted. (genomeweb.com)
  • Those mutant lines, the researchers found, are among the most sensitive to navitoclax, which inhibits anti-apoptotic Bcl-2 family members. (genomeweb.com)
  • The researchers building the mosquito cage in Italy, part of a multimillion-dollar project called Target Malaria, found this form of resistance in some mosquitoes. (bioedonline.org)
  • Resistance to gene drives is unavoidable, so researchers are hoping that they can blunt the effects long enough to spread a desired mutation throughout a population. (bioedonline.org)
  • That technique essentially allowed researchers to "isolate any gene, manipulate it, and put it back into the organism," making yeast "a eukaryote that you could study like Escherichia coli in terms of genetics. (the-scientist.com)
  • The presentation entitled: 'Chromatin Conformation Signatures Associated with Epigenetic Deregulation of the FIP1L1 and PDGFRA Genes,' focused on the technical application of its EpiSwitch™ platform based on observation published in Nature by the researchers from Massachusetts General Hospital, Harvard Medical School, Broad Institute of MIT and Harvard and the Howard Hughes Medical Institute (Flavahan et al. (biospace.com)
  • Prion gene paralogs are dispensable for early zebrafish development but have non-additive roles in seizure susceptibility. (gene-tools.com)
  • The generation of mutant and transgenic animal models, involving such species as the mouse, Drosophila, zebrafish and Caenorhabditis elegans (C. elegans), provides powerful tools for elucidation of these functions. (nih.gov)
  • By illustration, a large number of zebrafish and mouse mutants with vestibular system involvement have been developed. (nih.gov)
  • It is important to understand how these mechanisms are dynamically regulated by pivotal molecular targets and potentially reversed in the context of cardioprotection [ 6 ]. (hindawi.com)
  • The Target Malaria team has developed a second generation of gene-drive mosquitoes, hoping to slow the development of resistance, says Andrea Crisanti, a molecular parasitologist at Imperial College London. (bioedonline.org)
  • It was fascinating to me that you could use genetics - isolating mutants and looking at how they behaved - to deduce what was happening at a molecular level," he says. (the-scientist.com)
  • The scientific presentations emphasized developmental processes, encompassing such areas as: 1) the role of homeobox genes and growth factors in inner ear development and plasticity, 2) effects of altered gravitational loading on the development of the inner ear gravity receptor, 3) effects of altered gravitational loading on developing and mature neuromuscular systems and 4) molecular mechanisms that determine muscle fiber diversity and hypertrophic responses. (nih.gov)
  • The expanded use of mutant and transgenic animals offers many promising tools for investigating molecular bases of balance function and sensorimotor performance. (nih.gov)
  • Results showed efficient gene editing in the target, with 54.17 percent mutation efficiency. (isaaa.org)
  • About 60% of GBM tumors are fueled by the mutation or rampant over-expression of EGFR, most often by the EGFRvIII mutant. (sciencedaily.com)
  • We show that the Caenorhabditis elegans egl-2 gene encodes an eag K + channel and that a gain-of-function mutation in egl-2 blocks excitation in neurons and muscles by causing the channel to open at inappropriately negative voltages. (jneurosci.org)
  • Here we report that the behavioral defects in the C. elegans egl-2 mutant are caused by a gain-of-function ( gf ) mutation in an eag-like K + channel. (jneurosci.org)
  • Polymerase chain reaction is a technique commonly used for interrogating the presence or absence of a particular mutation, and next-generation sequencing techniques can include targeted sequencing approaches. (medscape.com)
  • There is a rare hereditary form of beta-2-microglobulin amyloidosis due to a mutation to the relevant gene. (msdmanuals.com)
  • Tricyclic antidepressants reverse egl-2(gf) mutant phenotypes, suggesting that EGL-2 is a tricyclic target. (jneurosci.org)
  • Methods: Clones indicate single gene deletions, population indicates whole population mutagenesis, e.g. using transposons. (wikipedia.org)
  • Mutant AAVrh.10 vectors were generated by site directed mutagenesis of the predicted targets. (nih.gov)
  • This a methods chapter for the alfalfa research community that guides the reader in constructing reagents for targeted mutagenesis of alfalfa genes. (usda.gov)
  • Reverse genetics: NS1 genes will be altered through site mutagenesis and mutated viruses will be generated through co-transfection of macropahges with a reverse genetics system to determine which part of the NS1 genes is responsible for the observed differences in cytopathogenic effect (apoptosis) and the modulation of the immnue genes detected by microarray analysis. (usda.gov)
  • Loss-of-function mutant of Lig 1 obtained by fast neutron-mutagenesis is deficient in the formation of the ligule and auricle, resulting in smaller leaf angles. (usda.gov)
  • We demonstrate that the R6/2 transgenic mouse model expressing a short fragment of mutant HTT displays hypothalamic neuropathology with discrete loss of the neuronal populations expressing orexin, MCH, CART, and orexin at 12 weeks of age. (lu.se)
  • The BACHD mouse model expressing full-length mutant HTT does not display any hypothalamic neuropathology at 2 months of age. (lu.se)
  • 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)
  • Brain morphogenesis requires precise regulation of multiple genes to control specification of distinct neural progenitors (NPs) and neuronal production. (frontiersin.org)
  • Some have floated the idea of creating gene drives that target multiple genes, or several sites within the same gene, diminishing the speed with which resistance would develop. (bioedonline.org)
  • Transcription of the aml operon is significantly repressed in the wild type when growing on glucose and repression is absent in an Δ amlR deletion mutant. (frontiersin.org)
  • Most of the enhancers activated by EGFRvIII bore signature DNA sequences that are bound by dozens of transcription factors--regulators of gene expression--expressed at high levels in GBM. (sciencedaily.com)
  • Cloning of Lig 1 demonstrated that the SPL transcription factor is conserved in monocots, providing a target for gene manipulation to maximize light interception capacity in high planting density. (usda.gov)
  • Furthermore, we found that HME promoted the transfer of the transcription factor SKN-1 to the nucleus but had no impact on the lifespan of skn-1 mutants, indicating that SKN-1 was essential for Hypsizygus marmoreus to exert beneficial biological effects in C. elegans. (bvsalud.org)
  • After analyzing 357 single nucleotide polymorphisms (SNPs) from 83 candidate genes, the authors found that men carrying a GG genotype in the SRD5A1 gene at locus rs472402 had a 55 percent risk reduction in developing high-grade prostate cancer when taking finasteride. (aacr.org)
  • These findings reveal a central role for HDAC4 in CaMKII signaling pathways and have implications for the control of gene expression by calcium signaling in a variety of cell types. (jci.org)
  • 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)
  • 2 h for wild type vectors) in vitro , which further translates to modest increase in hepatic gene transfer efficiency in vivo . (nih.gov)
  • The Huang (1997) paper also clearly summarizes what is known about the regulation of genes involved in dorsal/ventral patterning. (sdbonline.org)
  • That technologic potential piqued the interest of Hinnebusch, who even before his stint in Fink's lab was eager to study eukaryotic gene regulation. (the-scientist.com)
  • I liked the idea that, at NIH, I wouldn't have to fight for grant money or worry about teaching," says Hinnebusch, who is currently chief of the Laboratory of Gene Regulation and Development at NIH's National Institute of Childhood Health and Human Development. (the-scientist.com)
  • Combined with the up-regulation of the expression of antioxidant genes (skn-1, sod-1, sod-3, mev-1, and gst-4), HME may function as an antioxidant in nematodes, which may be closely related to its phenolic compounds. (bvsalud.org)
  • We found the platform to be rapid and accurate at characterizing multiple targets across all four haplo-alleles in single sequencing run. (usda.gov)
  • These four viruses have been selected because they have NS1 genes that belong to the A and B alleles, respectively. (usda.gov)
  • We anticipate that NS1 mediates the effects of AIV on macrophages and would like to test viruses with different NS1 alleles to determine if it mediates the downregulation of immune function genes as we described in the Prelimiary Results. (usda.gov)
  • Cultures will be grown in triplicate and realtime RT-PCR will be used on individual cultures to confirm the microarray findings on selected genes, which will initially include: MHC class I, MHC class II, MHC B-G, IL-1b, IL-4, and CCL5. (usda.gov)
  • 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)
  • We tried several gene selection strategies, and built classifiers using the resulting cDNA microarray gene lists. (lu.se)
  • Therefore, PacBio® long amplicon sequencing was evaluated for mutant characterization in alfalfa. (usda.gov)
  • The biosynthesis genes are encoded by the acb gene cluster, which was identified in 1999 by Stratmann et al. (frontiersin.org)
  • The clues Hinnebusch started investigating while in Fink's lab (first at Cornell and then at the Whitehead) related to yeast's ability to selectively switch on the genes that control amino acid biosynthesis when the organism is starving. (the-scientist.com)
  • The ∼30 Mb genomes of the Plasmodium parasites that cause malaria each encode ∼5000 genes, but the functions of the majority remain unknown. (portlandpress.com)
  • 1. Extensive Regulations of immune genes in chicken macrophages and lungs infected with influenza virus H9N2. (usda.gov)
  • 4) GPI8 null mutants are able to infect macrophages in vitro to approximately wild type levels, and replicate within macrophages. (gla.ac.uk)
  • To develop the Cancer Therapeutics Response Portal, Schreiber and his colleagues profiled the sensitivity of 242 genetically characterized cancer cell lines to more than 350 small molecules with well-described targets and activities. (genomeweb.com)
  • Expression of the p53 target CDIP correlates with sensitivity to TNFα-induced apoptosis in cancer cells. (nih.gov)
  • 82.9% of these genes have previously been linked to cellular migration, while the others play roles in RNA transport and splicing processes, for instance. (nih.gov)
  • This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. (cancerindex.org)
  • Such experiments have led to the conclusion that the absolutely required number of genes for bacteria is on the order of about 250-300. (wikipedia.org)
  • Just as antibiotics enable the rise of drug-resistant bacteria, population-suppressing gene drives create the ideal conditions for resistant organisms to flourish. (bioedonline.org)
  • The system was initially found in bacteria as an immune defense mechanism and subsequently co-opted into the gene editing powerhouse today. (singularityhub.com)
  • The analysis of both authentic Dorsal target genes and defined synthetic promoters suggests that the ectopic gradient is sufficient to generate the full repertory of DV patterning responses along the AP axis of the embryo. (sdbonline.org)
  • For example, mesoderm determinants are activated in the anterior third of the embryo, whereas neurogenic genes are expressed in central regions. (sdbonline.org)
  • Background Laterality in the vertebrate embryo is determined by left-right asymmetric gene expression driven by the flow of extraembryonic fluid across the embryonic node. (bmj.com)
  • Some expressed the biosynthetic genes all the time, "like people who empty the refrigerator after they've had a big meal," says Fink. (the-scientist.com)
  • Alternative splicing results in multiple transcript variants of this gene. (cancerindex.org)
  • And gene variants that decrease a population's propensity to mingle with other populations - such as those that limit flight capacity in insects - would suddenly prove beneficial and could spread. (bioedonline.org)
  • h) Counting genes with essential domains and those that lead to growth-defects when disrupted as essential, and those who lead to growth-advantage when disrupted as non-essential. (wikipedia.org)
  • Most malformations, especially those such as neural tube defects, occur early in embryogenesis and are likely the result of aberrant expression of a yet undefined developmental gene or family of genes. (medscape.com)
  • A general method to derive robust organ-specific gene expression-based differentiation indices: application to thyroid cancer diagnostic. (scienceopen.com)
  • We propose an unbiased method to derive organ-specific differentiation indices from gene expression data and demonstrate its usefulness in thyroid cancer diagnosis. (scienceopen.com)
  • We started our study because we think EGFRvIII--the most common EGF receptor (EGFR) mutant in GBM -- causes cancer through an integrated series of events," says Ludwig member Paul Mischel, whose laboratory led the study with that of fellow Ludwig member Bing Ren, both of whom are located at the Ludwig San Diego Branch. (sciencedaily.com)
  • Genes, Chromosomes and Cancer (2022) 61 (5): 244. (aacrjournals.org)
  • Secondary chemoprevention is targeted at patients with cancer who, in order to prevent recurrent disease or to prevent metachronous primary diseases, have undergone potentially curative therapy. (medscape.com)
  • Our data have provided evidence for a comparable prediction of clinical outcome in CMF-treated breast cancer patients using conventional clinical variables and gene expression based markers. (lu.se)
  • You're getting me all these genes across multiple cancer types, but what you really should be saying to the patient is, "I'm interested in the genes that I know are related to your melanoma. (medscape.com)
  • Dawson highlighted a study that followed a single patient with metastatic estrogen receptor (ER)-positive, HER2- positive breast cancer receiving two lines of targeted therapy over 3 years. (medscape.com)
  • One component, guide RNA (gRNA) is the bloodhound that hunts down the target DNA sequence. (singularityhub.com)
  • The nucleotide sequence of a fragment of the T. brucei GPI8 gene has also been obtained. (gla.ac.uk)
  • Multiple independent studies confirmed the findings of Honeyman et al by demonstrating the presence of the fusion gene in FLCs. (medscape.com)
  • He believed, as some scientists did at the time, that such repetitive sequences might represent elements involved in regulating gene expression. (the-scientist.com)
  • The interlinked phenomena, the team reports, are reflected in a global database of the genes expressed in GBM cells and seen in tumors expressing EGFRvIII obtained from GBM patients. (sciencedaily.com)
  • Before Hinnebusch arrived, Fink had isolated a handful of mutants that were unable to regulate this starvation response. (the-scientist.com)
  • In addition, the protocol details a procedure to screen mutant plants fast and effectively using Pacbio amplicon sequencing. (usda.gov)
  • Notable exceptions are the tilted and tilted head mouse mutants, having only one identified phenotypic defect, the absence of otoconia, and 100% penetrance. (nih.gov)
  • The development of an AAV vector system that can escape the circulating neutralizing antibodies in the host will substantially widen the scope of gene therapy applications in humans. (nih.gov)
  • Our data provide a framework for the development of a class of potent, non-toxic compounds for reactivating the Y220C mutant in anticancer therapy. (rcsb.org)
  • Together with other receptor tyrosine kinases, PDGFRA, is a prominent target not only in gliomas, but also in a number of haematological malignancies for targeted therapies based on tyrosine kinase inhibitors (TKI) and anti-PDGFRA monoclonal antibodies. (biospace.com)
  • These changes led to the constitutive activation of a prominent oncogene - receptor tyrosine kinase gene PDGFRA. (biospace.com)
  • These mutant vectors were first tested for their transduction efficiency in HeLa and HEK293T cells. (nih.gov)