• Two methods of screening for the detection of early stage of HHC are available: serum iron measures and molecular testing to detect mutations in the HHC gene, called HFE . (cdc.gov)
  • HHC can be defined by the presence of genetic mutations in the HFE gene, or biochemical markers of iron metabolism, or the presence of clinical symptoms. (cdc.gov)
  • The genetic analysis identifies persons carrying one or two copies of the two known mutations in the HFE gene, C282Y and H63D. (cdc.gov)
  • Mutations exclusively in equilibrative nucleoside transporter 3 (ENT3), the only intracellular nucleoside transporter within the solute carrier 29 ( SLC29 ) gene family, cause an expanding spectrum of human genetic disorders (e.g. (nature.com)
  • Establishing this final component of the Knockout Mouse Project is an important milestone in progressing toward our goal of making a comprehensive resource of knockout mutations in the mouse genome publicly available to the research community. (nih.gov)
  • Homozygous mutations in the WFS1 gene result in a rare disease-Wolfram syndrome that is characterized by early-onset diabetes mellitus , progressive optic atrophy, diabetes insipidus , and deafness [ 18 , 19 ]. (hindawi.com)
  • The frequency of heterozygous carriers of mutations in the WFS1 gene is remarkably high-1% of the general population [ 20 ] and heterozygosity for the WFS1 mutations has been reported to be a significant risk factor for psychiatric illnesses [ 20 , 21 ]. (hindawi.com)
  • Mutations in the WFS1 gene have been reported in patients with bipolar disorder, major depression, schizophrenia, and suicide victims without Wolfram syndrome [ 18 , 19 , 22 - 31 ]. (hindawi.com)
  • MGGM creates CRISPR cas9 gene edited mouse models for infectious diseases, gene regulation and for specific human mutations as models for human diseases. (nih.gov)
  • The RFA calls for two approaches: a) to generate (preferably in C57BL/6) null mutations for the mouse genes for which there has not yet been a null mutation produced and/or b) to produce a nearly complete set of mouse null mutations in C57BL/6 ES cells or mice by transposon or gene trapping mutagenesis. (nih.gov)
  • The DCC will be funded primarily to develop, house, and maintain databases to track the progress of the pipelines for producing the knockout mutations, and to deliver this information to the members of the KOMP research network, NIH staff, and the public. (nih.gov)
  • 19. Induction of Brain Arteriovenous Malformation Through CRISPR/Cas9-Mediated Somatic Alk1 Gene Mutations in Adult Mice. (nih.gov)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • Researchers are also utilizing knockout zebrafish lines bearing mutations in genes implicated in cancer-related diseases in humans. (umassmed.edu)
  • These are utilized with tissue specific and inducible Cre transgenic mice to better understand the function of driver-mutations in a cell type specific manner. (umassmed.edu)
  • However, the contributions of these mutations to oncogenesis are not easily understood, due to the fact that most chromatin regulators regulate expression of thousands of genes, in addition to roles in DNA replication and repair. (umassmed.edu)
  • The team is leading a multi-center registry of children and adults who carry the gene for this type of cardiomyopathy, in hopes that studying their genetic makeup will help them identify the exact mutations influencing the onset of the disease. (childrenshospital.org)
  • In phagocytes from CGD patients, ROS production is altered by mutations in various upstream genes including CYBB (Heyworth et al. (jax.org)
  • Aberrant splicing is a hallmark of leukemias with mutations in splicing factor (SF)-encoding genes. (iscb.org)
  • Deafness DFNB9, caused by mutations in the OTOF gene encoding otoferlin, might be treated by transferring wild-type otoferlin cDNA into IHCs, which is difficult due to the large size of this transgene. (mpg.de)
  • Therefore, we propose that gene delivery mediated by dual-AAV vectors might be suitable to treat deafness forms caused by mutations in large genes such as OTOF. (mpg.de)
  • We have successfully used CRISPR/Cas9 targeting to produce gene knockouts, conditional knockouts, single-point mutations, and insertions and gene fusions, including simultaneously mutating multiple genes in a single experiment. (nyu.edu)
  • Mutations can be created by direct injection into C57BL/6 fertilized mouse oocytes as well as into embryonic stem cells (ESCs) in culture. (nyu.edu)
  • To date, more than 1000 point-mutations in the ABCA4 gene have been linked to the development of Stargardt disease (STGD1) and other retinopathies. (ubc.ca)
  • They realised independently that a technique used to mutate bacteria through exposing them to x-rays could also introduce mutations into mammalian genes. (animalresearch.info)
  • Regulation of Nrf2- and AP-1-mediated gene expression by epigallocatechin-3-gallate and sulforaphane in prostate of Nrf2-knockout or C57BL/6J mice and PC-3 AP-1 human prostate cancer cells. (nih.gov)
  • The trans-NIH funded Knockout Mouse Project (KOMP) was launched in 2006 to support the generation of a comprehensive resource in mouse Embryonic Stem (ES) cells with null deletions of all protein-coding genes in the mouse genome, in the standard C57BL/6 mouse strain. (nih.gov)
  • This program aims to ablate and characterize all protein-coding genes in the C57BL/6 mouse genome. (nih.gov)
  • The KOMP research network is composed of four components: 1) one or more projects called for in RFA-HG-05-007 , whose goal is to make maximum progress towards completing the set of mouse knockouts across the entire mouse genome in the most widely use mouse strain, C57BL/6. (nih.gov)
  • 2003). Previously, Cybb function was disrupted in C57BL/6 (B6.129S- Cybb tm1Din /J, stock# 002365 ) mice resulting in a mouse model of CGD (Pollock et al. (jax.org)
  • Our lab produces traditional transgenic mice by injecting plasmid or bacterial artificial chromosome DNA constructs into a variety of inbred and outbred mouse strains, including C57BL/6. (nyu.edu)
  • We produce knockout (KO) mice, conditional knockout (CKO) mice, knock-in (KI) mice, and other types of gene targeting in C57BL/6 ESCs. (nyu.edu)
  • The revolutionary CRISPR technology has enabled the Core to simultaneously target multiple genomic loci and achieve gene knockout in difficult mouse strains, such as immunocompromised mice. (nih.gov)
  • This initiative will ensure knockout mouse strains are made available to the research community in an economical and timely manner. (nih.gov)
  • The repository will archive, maintain, and distribute up to 8,500 strains of embryonic stem cell clones, live mouse lines, frozen embryos and sperm, and vectors - while assuring product quality and availability for all materials. (nih.gov)
  • To investigate the functional relevance of lncRNAs in various physiological conditions, we have developed a collection of 18 lncRNA knockout strains in which the locus is maintained transcriptionally active. (elifesciences.org)
  • We have also used gene editing to retarget existing strains from repository strains, ESCs, and proprietary frozen sperm using assisted reproductive technology. (nyu.edu)
  • We can also produce ESCs for targeting from mouse strains already present in an NYU Langone vivarium. (nyu.edu)
  • While mutant strains have been bred for many years, gene targeting allows specific physiological features to be studied. (animalresearch.info)
  • To investigate neuronal circuits and visualize expression of our target genes and proteins, we use advanced tissue staining and fluorescent microscopy techniques, including single-molecule RNA hybridization, and confocal and light-sheet imaging. (weizmann.ac.il)
  • By using macrophages from mice that only express STAT1β, we investigated the role of the C-terminal TAD during the distinct steps of transcriptional activation of selected target genes in response to IFNγ. (frontiersin.org)
  • The TH2 transcriptional activator GATA-3 and the Treg-associated transcriptional repressor FOXP3 robustly bind human, but not mouse, GPR15 enhancer sequences, correlating with receptor expression. (nih.gov)
  • Because LIM cofactors RLIM and CLIM regulate the transcriptional activity of ER in breast cancer cells, the Bach lab studies functions of these cofactors in mammary glands and during the formation of breast cancer. (umassmed.edu)
  • Amongst the transcription factors, we identified ELF3 as a key transcriptional factor strongly associated with renal fibrosis in all mouse models and patient samples. (asn-online.org)
  • It is a method of random mutagenesis by which the insertion of a DNA element into endogenous genes leads to transcriptional disruption. (taconic.com)
  • STAT1β lacks the C-terminal TAD and has been previously reported to be a weaker transcriptional activator than STAT1α, although this was strongly dependent on the target gene. (frontiersin.org)
  • Our study identified novel functions of the STAT1 C-terminal TAD in transcriptional activation and provides mechanistic explanations for the gene-specific transcriptional activity of STAT1β. (frontiersin.org)
  • These recombinations are capable of disrupting genes in a manner that is specific to only heart tissue in vivo and allows for the creation of conditional knockouts of the heart mostly for use as controls. (wikipedia.org)
  • Because p53 is a key transcription factor regulating many important apoptosis-related genes, we hypothesized that p53 may play a key role in silica-induced apoptosis and that abnormal regulation of p53 by silica may contribute to development of lung cancer as well as silicosis. (cdc.gov)
  • We identified 42 genes affected by Wfs1 genotype, 10 genes regulated by VPA treatment, and 9 genes whose regulation by VPA was dependent on genotype. (hindawi.com)
  • Generation of transgenic animal models for human genetic disorders and for mechanisms of gene regulation. (nih.gov)
  • Cloning, gene regulation, and neuronal proliferation functions of novel N-terminal-truncated carboxypeptidase E/neurotrophic factor-αl variants in embryonic mouse brain. (nih.gov)
  • We study the regulation of stress-related gene expression (including alternative splicing and polyadenylation) using both transcriptome-wide measurements, such as RNA-sequencing, and candidate-driven approaches like real-time PCR and in-situ hybridization. (weizmann.ac.il)
  • Dr. William Pu's laboratory is studying the regulation of gene expression in heart development and heart failure. (childrenshospital.org)
  • His current research interests focus on the identification of new antimicrobial therapies and unravel the molecular mechanism underlying the transcripcional regulation of bacterial ribonucleotide reductase genes. (ibecbarcelona.eu)
  • ReViTA (Reverse in VitroTranscription Assay) is a novel in vitro transcription-based method to study gene expression under the regulation of specific transcription factors. (ibecbarcelona.eu)
  • In addition, the core also offers services for injecting stem cells or differentiated cells into immunocompromised mice for testing their ability to form teratomas or evaluating their differentiation capabilities. (nih.gov)
  • The molecular pathogenesis stems from the loss of lysosomal adenosine transport, which impedes autophagy-regulated stem cell differentiation programs via misregulation of the AMPK-mTOR-ULK axis. (nature.com)
  • MGGM is developing strategies for differentiation of iPS cells into hematopoietic stem cells. (nih.gov)
  • It is expressed in adult and embryonic tissues (most notably in placenta) and reported to have a role in cell proliferation, differentiation and apoptosis. (cancerindex.org)
  • 2017). Effect of densely ionizing radiation on cardiomyocyte differentiation from human-induced pluripotent stem cells. (wvu.edu)
  • Applied to wild-type and N-deacetylase/N-sulfotransferase-deficient fibroblasts as well as to epithelial cells differentiation, it also gives insights into the functional relationships existing between HS biosynthetic enzymes. (nih.gov)
  • We have found that Myc directs ESC metabolism and proliferation as well as potently suppresses their differentiation, together in this way maintaining their stem cell state. (ca.gov)
  • For example, using the Cre-lox system, researchers can study oncogenes and tumor suppressor genes and their role in development and progression of cancer in mice models. (wikipedia.org)
  • Injecting stem cells or differentiated cells into immunocompromised mice for transplantation study or tumor formation, including teratoma assays. (nih.gov)
  • Paradoxically, dying cancer cells can be the origin of signals which induce proliferation of surviving cells and thus can cause even stronger tumor growth. (umassmed.edu)
  • They have used these mice to perform both directed experiments and functional genomics screens to identify oncogenes and tumor suppressor genes for a variety of malignancies, including breast, lung and brain cancers as well as leukemia. (umassmed.edu)
  • The DU145-KO cells were transplanted into the armpits of immunocompromised Nu/Nu mice, followed by the tissue collection from the lung at week 3 (early lung tissue) or week 7 (late lung tissue with micro-metastasis), as well as from primary tumor site at week 7 (late primary tumor) after inoculation. (benthamscience.com)
  • Conclusion: Genome-wide CRISPR-Cas9 knock-out screening technology combined with highthroughput sequencing analysis identified genes that potentially relate to prostate tumor invasion and metastasis. (benthamscience.com)
  • I also generated mice with gene combinations that will lead to prostate tumor development, specifically through deletions of the cancer gene Pten. (europa.eu)
  • The objective in this area is to find factors that can do the job of Myc in regulating stem cells but without its tumor promoting properties. (ca.gov)
  • In humans GPR15 is expressed by effector cells, including pathogenic TH2 cells in ulcerative colitis, but is expressed poorly or not at all by colon regulatory T (Treg) cells. (nih.gov)
  • Knockout mice are a powerful tool to study gene function and nervous system physiology, given the genomic similarity between mice and humans. (nih.gov)
  • In addition to mouse models, we also study stress-related neurobiological functions directly in humans. (weizmann.ac.il)
  • Nucleoporin 85 ( Nup85 ) is a protein that in humans is encoded by the NUP85 gene . (wikidoc.org)
  • Paralleling the delay in onset of antidepressant efficacy in humans, the chronically-treated mice, but not the briefly-treated ones, showed a 60 percent boost in a telltale marker of neurogenesis in a key area of the hippocampus. (biopsychiatry.com)
  • Two of the most promising stem cells for regenerative medicine, human embryonic stem cells (hESC) and human induced pluripotent stem cells (iPS), both are almost certain to cause cancer in humans if transplanted. (ca.gov)
  • Myc is unique amongst stem cell regulators because it not only has key roles in the normal, positive functions of many stem cells, but also when found in excess it is one of the most potent cancer-causing genes in humans. (ca.gov)
  • In the past several years, the Core has successfully used the ZFN, TALEN, and CRISPR methods to generate gene-targeted mouse lines. (nih.gov)
  • The opening half of the book focuses on methods for generating mouse models, as they are still the most popular in genome engineering research, while the second half examines gene-editing in a variety of other species, opened up by the developments in ZFN, TALEN, and CRISPR techniques. (nih.gov)
  • CRISPR/cas9 mediated genome editing in mouse embryos, ES cells and somatic cells. (nih.gov)
  • Genome editing via CRISPR cas9 has revolutionized the field of in vivo genome modification which has been used to achieve high editing efficiencies in a wide range of different cell types and embryos to create animal models. (nih.gov)
  • The MGGM Core possesses specialized expertise in state-of-the-art technologies for in vivo gene modification in mouse embryos for the production of transgenic, CRISPR mediated gene knockout (KO), gene knock-in (KI) and conditional gene KO mouse models. (nih.gov)
  • He joined NIAID's Comparative Medicine Branch (CMB) in 2015 and established the Mouse Genetics and Gene Modification (MGGM) section to provide state of the art technologies of mouse genome modification, including CRISPR/cas9 mediated genome editing, generation of transgenic mouse models, gene targeting in ES cells and iPS cells, germplasm cryopreservation and rederivation of mouse lines. (nih.gov)
  • His areas of research include identification of gene that regulate self-renewal of stem cells, cell signaling, development of ES and iPS cell lines from different species, creation of animal models for human genetic disorders, CRISPR/cas9 genome editing in stem cells and somatic cells and generation of humanized animal models for infectious diseases such as SARS Cov-2 and bacterial diseases. (nih.gov)
  • 5. A pipeline for rapidly generating genetically engineered mouse models of pancreatic cancer using in vivo CRISPR-Cas9-mediated somatic recombination. (nih.gov)
  • 9. Generation of conditional Acvrl1 knockout mice by CRISPR/Cas9-mediated gene targeting. (nih.gov)
  • 10. Construction of Viral Vectors for Cell Type-specific CRISPR Gene Editing in the Adult Mouse Brain. (nih.gov)
  • 11. Cell-specific CRISPR-Cas9 activation by microRNA-dependent expression of anti-CRISPR proteins. (nih.gov)
  • 17. Therapeutic potential of combined viral transduction and CRISPR/Cas9 gene editing in treating neurodegenerative diseases. (nih.gov)
  • 18. CASAAV: A CRISPR-Based Platform for Rapid Dissection of Gene Function In Vivo. (nih.gov)
  • Dpp3 - KN2.0, Mouse gene knockout kit via CRISPR, non-homology mediated. (origene.com)
  • To generate a novel CGD mouse model, Dr. Sweeney and colleagues used CRISPR/Cas9 methodology to create a 235 bp deletion in exon 1 of Cybb in the highly immunodeficient NSG mouse strain. (jax.org)
  • The authors of this study demonstrate that fusing CRISPR/Cas9 technology with the highly immunodeficient NSG mouse is an exciting paradigm for the development of preclinical testing platforms specifically designed for greater translational relevance. (jax.org)
  • CRISPR-Mediated Knockout of Cybb in NSG Mice Establishes a Model of Chronic Granulomatous Disease for Human Stem-Cell Gene Therapy Transplants. (jax.org)
  • Clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated protein 9 (Cas9) technology facilitates precision gene editing in rodents. (nyu.edu)
  • Cre recombinase is then used to generate a translocation between the two DNA molecules, exchanging the genetic material from one DNA molecule to the other forming a simultaneous translocation of both floxed genes. (wikipedia.org)
  • Besides developing these new technologies, the Core is continuing to provide a variety of services using the classical mouse genetic and reproductive methodologies, such as producing transgenic lines using the pronuclear microinjection method, generating knockout mice using ES cell-mediated homologous recombination and blastocyst microinjection, cryopreserving and resurrecting mouse lines. (nih.gov)
  • Genetic, pharmacologic and stem cell interventions ameliorate ENT3-disease pathologies and extend the lifespan of ENT3-deficient mice. (nature.com)
  • Over the past three decades, however, many patents have been granted on gene sequences and other types of basic information derived from genetic sequence. (nih.gov)
  • Modern genetic approaches are powerful in providing access to diverse cell types in the brain and facilitating the study of their function. (nih.gov)
  • In addition to mRNA, our lab also focuses on measuring microRNA expression - using real-time PCR and dedicated small RNA-Sequencing and in-situ hybridization protocols - and to investigate their regulatory functions, using in vitro studies, genetic mouse models and virus-based manipulations. (weizmann.ac.il)
  • We also investigate how epigenetic mechanisms like DNA methylation regulate gene expression during stress, using DNA-pyrosequencing, traditional BS-sequencing, TAB-sequencing and genetic mouse models. (weizmann.ac.il)
  • In genetic screens, they have identified several genes involved in AiP. (umassmed.edu)
  • For this purpose, they utilize the mouse as a model system to understand the genetic and epigenetic basis of therapeutic resistance in T-ALL. (umassmed.edu)
  • Finally, we generated mice with tubule-specific genetic deletion of Elf3 and induced disease by folic acid injection. (asn-online.org)
  • Due to compensatory genetic mechanisms, knockout status cannot be guaranteed and will have to be confirmed by the customer. (taconic.com)
  • Digging deeper, I have found a potentially important inverse relationship between PI5P4K expression and levels of AR pathway activity using genetic manipulation of PI5P4K levels in prostate cells. (europa.eu)
  • They replaced a specific gene with a similar genetic sequence, which was modified to contain a mutation. (animalresearch.info)
  • They are using conditional gene knockout and overexpression approaches to manipulate gene expression in mice and in primary cultured cells. (childrenshospital.org)
  • Here we performed phenotypic characterization (glomerulosclerosis, fibrosis and kidney function) and RNA sequencing of five mouse kidney disease models including unilateral ureteral obstruction (UUO), folic acid nephropathy (FAN), tubule-specific overexpression of Notch1 and podocyte-specific expression of APOL1 risk variant, and the Col4a3 knockout, Alport syndrome model. (asn-online.org)
  • Overexpression of this gene has been associated with several malignancies, such as hepatocellular carcinoma and B-cell lymphocytic leukemia. (cancerindex.org)
  • Several months ago, Johnson and colleagues reported that targeting Nrf2 overexpression to astrocytes delayed motor neuron degeneration in a mouse model of amyotrophic lateral sclerosis (see ARF related news story ). (alzforum.org)
  • The appearance of H3K4me3-BD over in the latter was associated with overexpression and extensive chromatin accessibility of its gene body. (babraham.ac.uk)
  • To speed up efforts to generate knockout mice from those ES cells and to characterize gene function rigorously and systematically, the NIH Common Fund Knockout Mouse Phenotyping Program ( KOMP2 ) was created in 2011 to replace KOMP. (nih.gov)
  • The mission of the IMPC is to generate and characterize mice with knockout of the ~21,000 known and predicted mouse genes and to create a comprehensive catalogue of gene function that is freely available to researchers. (nih.gov)
  • The overall objective of this FOA is to generate the resources needed by NIH-funded Mouse Phenotyping Centers to produce functional information for each protein coding gene in the mammalian genome as described in RFA-RM-10-011 . (nih.gov)
  • The iPS cells created by reprogramming of somatic cells are pluripotent cells that have complete potential to generate all cell types. (nih.gov)
  • Gene targeting is used to generate approximately half of the existing knockout mouse lines available, as well as the custom generated knockout models. (taconic.com)
  • Insertion of the retroviral vector into an expressed gene leads to the splicing of the endogenous upstream exons into this cassette to generate a fusion transcript. (taconic.com)
  • Splicing from this signal to the exons downstream of the insertion gives rise to a fusion transcript that can be used to generate a sequence tag of the trapped gene. (taconic.com)
  • To generate actin filaments, cells rely on actin nucleators. (jneurosci.org)
  • Normalization and subtraction: two approaches to facilitate gene discovery. (nih.gov)
  • MGGM lab is creating humanized animal models for ACE2 enzymes, a receptor for spike protein for corona virus by altering the fifteen mouse amino acids (AA) to human AA as a model for SARS-CoV-2 COVID-19 infection as well as for remedial approaches. (nih.gov)
  • I used experimental approaches to characterize multiple metabolic pathways when PI5P4K is depleted in PCa cell models. (europa.eu)
  • To this end we have taken two approaches, studying Myc function in hESC and also in mouse ESC (mESC). (ca.gov)
  • Carboxypeptidase E-∆N Promotes Proliferation and Invasion of Pancreatic Cancer Cells via Upregulation of CXCR2 Gene Expression. (nih.gov)
  • Phenotypic analysis of mutant embryos with all the techniques attached to this (in situ hybridization for gene expression, organotypic culture, proliferation and apoptosis, etc. (kpfu.ru)
  • Here, we found that AZD2858 promotes the accumulation of β-catenin in the nuclei of stem cells from the apical papilla (SCAPs) and enhances cell proliferation. (techscience.com)
  • Mice homozygous for a knock-out allele exhibit enhanced IL-2 production, increased T cell proliferation in response to TCR/CD28 stimulation, splenomegaly, and an increased frequency of activated T cells. (jax.org)
  • Chronic treatment with a serotonin 1A-selective drug confirmed that activating the serotonin 1A receptor is sufficient to spur cell proliferation. (biopsychiatry.com)
  • The role of interleukin-7 receptor (IL-7R) signaling in Igh recombination has been difficult to partition from its role in B cell survival and proliferation. (babraham.ac.uk)
  • In layman's terms, the gene can be knocked-out (inactivated) in a specific tissue in vivo, at any time chosen by the scientist. (wikipedia.org)
  • Administration of the highly selective PFKFB3 inhibitor AZ67 in Cln7 ∆ex2 mouse brain in vivo and in CLN7 patients-derived cells rectifies key disease hallmarks. (nature.com)
  • Several key Nrf2-dependent genes were down-regulated (3-fold to 35-fold) after in vivo administration of the combination of EGCG (100 mg/kg) and SFN (45 mg/kg). (nih.gov)
  • To study gene function and disease mechanisms in-vivo, we use transgenic mouse models, together with site-specific manipulations of neuronal targets using viral injections. (weizmann.ac.il)
  • These models allow detailed imaging of cellular defects not possible in mouse models, while also serving as a platform for in vivo small molecule screens for therapeutic agents. (umassmed.edu)
  • This study represents an exciting step forward in the development of an in vivo model for CGD capable of engrafting healthy or diseased human hematopoietic stem cells. (jax.org)
  • Furthermore, CACYBP's effect on CCA cell growth and invasion was investigated in vitro and in vivo using loss-of-function experiments. (techscience.com)
  • The long range goals of the section are to identify and characterize unconventional myosins, and to define their roles in the motility of cells and organelles. (nih.gov)
  • However, the roles of SULF2 in SP cells of hepatomas are unclear, and the underlying mechanism is undefined. (techscience.com)
  • With this realization, a batch of new studies shifts the spotlight from neurons to astrocytes, revealing critical roles for these helper cells in Parkinson and Alzheimer diseases and in processes as fundamental as sleep and circadian rhythm. (alzforum.org)
  • The floxing of genes is essential in the development of scientific model systems as it allows researchers to have spatial and temporal alteration of gene expression. (wikipedia.org)
  • Authoritative and practical, Microinjection: Methods and Protocols serves as an ideal guide for researchers looking to take advantage of the breakthrough technologies in gene-editing and embryo micromanipulations. (nih.gov)
  • All data and mouse lines from KOMP2/IMPC knockout mice projects are openly available to researchers around the world. (nih.gov)
  • Knockout mice are useful tools that allow researchers to study human conditions such as cancer, diabetes, and Alzheimer's disease and then translate discoveries into cures and treatments that will improve public health," according to Barbara Alving, M.D., Director of the National Center for Research Resources, the NIH component that is leading the repository effort. (nih.gov)
  • Systematic disruption of each of the 20,000 genes in the mouse genome will allow researchers to determine the role of each gene in normal physiology and development. (nih.gov)
  • More importantly, researchers can use knockout mice to develop better models of many inherited human diseases. (nih.gov)
  • This repository will enable many more researchers to access knockout mice, which are valuable models of human disease," said Colin Fletcher, Ph.D., a program director at the National Human Genome Research Institute (NHGRI), which is the administrative lead for KOMP. (nih.gov)
  • The goal of the Metabolomics program is to improve methods for studying the chemical reactions that occur in organisms, cells, or tissues, and make those methods more accessible to researchers, allowing for more personalized diagnosis of disease and treatment methods. (nih.gov)
  • MCCB researchers studying leukemia also take advantage of "humanized" mice, which allow transplantation of human leukemia cells into mice with a humanized immune system. (umassmed.edu)
  • To this end, researchers in the Castilla Lab have developed sophisticated mouse models for acute myeloid leukemia to study the mechanisms dictating leukemia development, including conditional knockins. (umassmed.edu)
  • Researchers have found a key protein (Skn-1a) acts as a master regulator for the generation of chemosensory cells in mice. (sciencedaily.com)
  • Now, researchers have found that a protein called Skn-1a[2] behaves as a master regulator[3] for the generation of these cells across multiple tissues and organs. (sciencedaily.com)
  • In the new study published in PLOS ONE , the researchers comprehensively analyzed multiple tissues using knockout mice[4] and bio-imaging techniques. (sciencedaily.com)
  • Researchers in Boston Children's Department of Cardiology and at Brigham and Women's Hospital are conducting medication trials for patients who carry the gene for hypertrophic cardiomyopathy, but whose echocardiograms are normal. (childrenshospital.org)
  • The Taconic Knockout Repository's 4,000+ KO models provide academic and commercial researchers worldwide with unparalleled access to fully licensed, knockout mouse models. (taconic.com)
  • Blocking the formation of neurons in the hippocampus blocks the behavioral effects of antidepressants in mice, say researchers funded by the National Institutes of Health (NIH). (biopsychiatry.com)
  • To begin to demonstrate a causal relationship between these newly generated cells and relief from depression, researchers would have to find a way to prevent their formation in a behaving animal. (biopsychiatry.com)
  • The researchers first showed that mice become less anxious - they begin eating sooner in a novel environment - after four weeks of antidepressant treatment, but not after just 5 days of such treatment. (biopsychiatry.com)
  • By knocking out the gene that codes for a key subtype of serotonin receptor (5-HT1A), the researchers created a strain of "knockout" mice that as adults show anxiety-related traits, such as a reluctance to begin eating in a novel environment. (biopsychiatry.com)
  • This library is likely to be an extremely valuable tool for other stem cell researchers as well. (ca.gov)
  • CONCLUSION: Taken together, our present study of transcriptome profiling the gene expression changes induced by dietary phytochemicals SFN and EGCG in Nrf2-deficient mice and in PC-3 cells in vitro demonstrates that the effects of SFN+EGCG could be mediated via concerted modulation of Nrf2 and AP-1 pathways in the prostate. (nih.gov)
  • We study the neural substrates of behavior using patch-clamp and field potential recordings in-vitro (cell culture, organotypic and acute brain slices), as well as incorporating state-of-the-art optogenetic and chemogenetic manipulations. (weizmann.ac.il)
  • Recent in vitro studies suggest that the resulting long noncoding RNA molecules can act as regulators of transcription, translation, and cell cycle. (elifesciences.org)
  • Moreover in vitro data showed that VitD up-regulates the mRNA of the Angiotensin Converting Enzyme 2 (ACE-2), the SARS-COV-2 receptor in different type of cells. (springer.com)
  • The parasite was grown successfully in African Green Monkey cells from tissues of two reindeer for the first time. (usda.gov)
  • ACE-2 is expressed in several type of tissues including thyroid cells, on which its mRNA was shown to be up-regulated by interferon-gamma (IFN-γ). (springer.com)
  • By subcellular fractionations, protein interaction analyses, subcellular reconstitutions of protein complexes, colocalization studies in cells and tissues, and by functional analyses in neuronal morphogenesis we demonstrate that both proteins associate and work with each other closely. (jneurosci.org)
  • Also covered by several issued patents, gene trapping is a high throughput method of generating knockout mouse clones. (taconic.com)
  • The Core has imported the TARGATT mouse line, which enables the insertion of a single copy transgene into a predefined genomic locus. (nih.gov)
  • lncRNAs can be categorized into intergenic, intronic, bidirectional, sense, and antisense lncRNAs, depending on their genomic position relative to nearby protein-coding genes ( 10 , 11 ). (frontiersin.org)
  • The group studies chromatin remodeling complexes, epigenetics, and embryonic stem cell pluripotency. (nih.gov)
  • We are also investigating the signaling mechanisms of Vitamin A/retinol in pluripotency and self-renewal of ES and iPS cells. (nih.gov)
  • Retinol activates the endogenous machinery to cause over expression of pluripotency specific genes such as Nanog. (nih.gov)
  • In both hESC and mESC we have found that Myc genes are essential for normal pluripotency and self-renewal. (ca.gov)
  • Our goal in Aim 3 is to discover new stem cell regulators, both factors that positively and negatively regulate self-renewal and pluripotency. (ca.gov)
  • Notably, lncRNAs have been shown to mediate various biological processes in cells, including glucose and lipid metabolism ( 4 , 5 ). (frontiersin.org)
  • Normal glucose metabolism is essential for cell life and influences cell survival. (frontiersin.org)
  • When oxygen is scarce, cells rely on glycolysis rather than oxygen-consuming mitochondrial metabolism for an energy supply ( 7 ). (frontiersin.org)
  • Lipid metabolism refers to the synthesis and degradation of lipids in cells and involves the breakdown or storage of fats for energy and the synthesis of structural and functional lipids. (frontiersin.org)
  • Cancer and stem cell metabolism. (kpfu.ru)
  • A strong body of evidence suggests that a large network of signaling enzymes, called lipid kinases, can add phosphate tags onto components of cellular membranes and are essential hubs for regulating cell metabolism. (europa.eu)
  • I believe PI5P4K lipid kinases are unexplored cornerstones of cell metabolism and aim to be the first to establish their role in prostate biology. (europa.eu)
  • To test this I have the following objectives: (1) Establish the biological phenotype associated with PI5P4K expression in prostate cells, (2) Examine how targeting PI5P4K influences the molecular and tumorigenic characteristics of PCa, and (3) Uncover how PI5P4K supports changes to androgen dependence through control of prostate cell metabolism. (europa.eu)
  • A major objective of PCAPIP was to uncover what metabolism processes are influenced by PI5P4K in normal cells and prostate cancer. (europa.eu)
  • This gene is highly conserved across mammalian species and retains the heptanucleotide (GGGAAAC) and pseudoknot elements required for -1 FS. (cancerindex.org)
  • Mouse Genome Database , WormBase , Zebrafish Information Network , Saccharomyces Genome Database , Flybase , and the Gene Ontology Consortium . (nih.gov)
  • He has over 25 years of experience gene manipulation in mouse embryos and stem cells. (nih.gov)
  • Stem Cells (35)557-571. (nih.gov)
  • Developmental Biology and stem cells. (kpfu.ru)
  • 2013) Hdac6 regulates Tip60-p400 function in stem cells. (umassmed.edu)
  • A promising therapeutic approach to treat CGD involves gene therapy on hematopoietic stem cells isolated from patients, followed by autologous cell transplantation. (jax.org)
  • As a proof of concept, CD34+ human hematopoietic stem cells from donors with or without CGD were engrafted in Cybb knockout mice. (jax.org)
  • As expected, engrafted hematopoietic stem cells successfully differentiated into phagocytes such as monocytes and macrophages, as well as B cells, NK cells, and T cells. (jax.org)
  • When hematopoietic stem cells from CGD patients transduced with a lentiviral vector expressing functional human CYBB were engrafted into Cybb knockout mice, ROS activity was subsequently detected in phagocytes. (jax.org)
  • Proteomic analysis of mitochondrial biogenesis in cardiomyocytes differentiated from human induced pluripotent stem cells. (wvu.edu)
  • Stem cells must divide, differentiate, migrate and establish connections with post-synaptic targets - a process that takes a few weeks. (biopsychiatry.com)
  • The key hurdle in moving regenerative medicine to the clinic is that stem cells have the ability to cause tumors and in most cases we currently lack methods to make them safe. (ca.gov)
  • The reality is that if we cannot prove that stem cells are safe and do not cause tumors, they will never be used in patients. (ca.gov)
  • In its job as a transcription factor, Myc binds to DNA in stem cells and regulates the structure and function of the DNA through a process called epigenetics. (ca.gov)
  • Finally, we have also been employing an exciting proteomics-based methodology to screen for factors that can substitute for Myc in regulating stem cells including both ESC and human iPS cells. (ca.gov)
  • He developed a way to alter the stem-cells, and then inject them into a fertilized mouse egg cell. (animalresearch.info)
  • 15. Genome editing in the mouse brain with minimally immunogenic Cas9 RNPs. (nih.gov)
  • This Common Fund program aims to comprehensively identify and characterize the differences in senescent cells across the body, across various states of human health, and across the lifespan. (nih.gov)
  • Moreover, animals such as mice can be used as models to study human disease. (wikipedia.org)
  • Here, we found, in the Cln7 ∆ex2 mouse model of CLN7 disease, that failure in autophagy causes accumulation of structurally and bioenergetically impaired neuronal mitochondria. (nature.com)
  • Here, using the Cln7 ∆ex2 mouse model of CLN7 disease, we found an aberrant upregulation of pro-glycolytic enzyme PFKFB3 in neurons that may contribute to CLN7 pathogenesis. (nature.com)
  • While this is perhaps an extreme example (and the validity of GTG's patents has not yet been tested in the courts), other controversial cases can also be cited (e.g., the Myriad Genetics BRCA1 patent, the University of Miami Canavan disease patent, the CCR5 HIV co-receptor gene patent). (nih.gov)
  • This important project builds on our reputation as a resource for genetically altered mice, which are essential models for furthering our understanding of human and animal disease. (nih.gov)
  • This Common Fund program aims to transform our understanding of how somatic mosaicism in human cells influences biology and disease. (nih.gov)
  • Click on a disease name to see all genes associated with that disease. (jax.org)
  • Thus, a diverse array of animal and cell-based systems is often needed to study different aspects of the disease and different cancer types. (umassmed.edu)
  • Mice could be an excellent model organism to model to study glomerulosclerosis and fibrosis, however, individual mouse models does not fully recapitulate the complexity of the human disease. (asn-online.org)
  • RNA sequencing was also conducted to quantify unbiased gene expression in 95 human kidney samples, including controls and diabetic kidney disease. (asn-online.org)
  • We identified 131 genes (including 6 transcription factors) that were commonly regulated in mouse kidney disease models and in CKD patients. (asn-online.org)
  • genes associated with epithelial-to-mesenchymal transition and disease development. (asn-online.org)
  • Mutant prion protein (PrP) molecules have been expressed in neural cell cultures and in transgenic mice to study the effects of PrP alterations on agent replication and disease development. (nih.gov)
  • Race B, Williams K, Chesebro B. Transmission Studies of Chronic Wasting Disease to Transgenic Mice Overexpressing Human Prion Protein using the RT-QulC Assay . (nih.gov)
  • Analysis of these genes provided insights into biological pathways relevant to the disease and disclosed innovative markers for diagnosis or prognosis as well as potential targets for therapy. (benthamscience.com)
  • Myotonic dystrophy type 1 (DM1) is a dominantly inherited neuromuscular disease caused by a CTG repeat expansion in 3'-UTR of DMPK gene. (iscb.org)
  • In this week's PNAS Early Edition, a Johnson-led team shows that a similar strategy works in the MPTP mouse model for Parkinson disease. (alzforum.org)
  • In human cells, DNA is organized with the aid of small basic proteins, histones, to form chromatin. (nih.gov)
  • Genes encoding chromatin regulatory proteins encompass some of the most frequent targets of mutation in cancer. (umassmed.edu)
  • Myc genes encode proteins that are transcription factors that control hESC behavior through regulating levels of other factors. (ca.gov)
  • Our analysis suggests that H3K4me3-BDs can be created by super-enhancers and supports the new concept of epigenomic translocation, where the relocation of H3K4me3-BDs from cell identity genes to oncogenes accompanies the translocation of super-enhancers. (babraham.ac.uk)
  • Therefore, Cre-lox system can be used in mice to manipulate gene expression in order to study human diseases and drug development. (wikipedia.org)
  • KOMP2 is part of the International Mouse Phenotyping Consortium (IMPC). (nih.gov)
  • The International Mouse Phenotyping Consortium ( IMPC ) is an international confederation across 15 countries and consisting of 21 research institutions, including the NIH Common Fund KOMP2 program, working to identify the function of every protein-coding gene in the mouse genome. (nih.gov)
  • Previously funded portions of the KOMP include two awards totaling $47.2 million for the creation of mouse embryonic stem cell lines in which 8,500 different genes have been knocked out. (nih.gov)
  • The purpose of this RFA is to solicit applications for a project to develop and implement a Data Coordination Center (DCC) as part of the Knockout Mouse Project (KOMP) research network. (nih.gov)
  • A conditional knockout mouse line called Nup85 tm1a(KOMP)Wtsi was generated at the Wellcome Trust Sanger Institute . (wikidoc.org)
  • 1. Gene editing vectors for studying nicotinic acetylcholine receptors in cholinergic transmission. (nih.gov)
  • The final targeting vectors typically contain around 10 kilobases of overall sequence homology flanking the deleted region for the gene of interest. (taconic.com)
  • The retroviral gene trap vectors contain a splice acceptor sequence followed by a promoter-less selectable marker. (taconic.com)
  • The vectors also contain a promoter that is active in ES cells, followed by a first exon (such as that of the Bruton's Tyrosine Kinase gene, BTK) upstream of a splice donor signal. (taconic.com)
  • In this study, we generated two adeno-associated viruses (AAVs), each containing half of the otoferlin cDNA Co-injecting these dual-AAV2/6 half-vectors into the cochleae of 6- to 7-day-old otoferlin knock-out (Otof -/-) mice led to the expression of full-length otoferlin in up to 50% of IHCs. (mpg.de)
  • CLN7/MFSD8 gene encodes a lysosomal membrane glycoprotein, but the biochemical processes affected by CLN7-loss of function are unexplored thus preventing development of potential treatments. (nature.com)
  • In biochemical and knockout mice studies, ABCA4 has been implicated in the transport of N-retinylidene-PE, the Schiff base conjugate formed from all-trans retinal and phosphatidylethanolamine (PE). (ubc.ca)
  • The MGGM Core also offers service for cryopreservation of mouse embryos and sperm for long-term storage, rederivation of mouse lines, IVF and mouse colony expansion. (nih.gov)
  • carrying out cryopreservation of mouse embryos and sperm to preserve valuable mouse lines. (nih.gov)
  • These results suggest a metabolic mechanism by which the redox status of TSCs may regulate central T cell tolerance. (stanford.edu)
  • PEG10 counteracts signaling pathways of TGF-β and BMP to regulate growth, motility and invasion of SW1353 chondrosarcoma cells. (cancerindex.org)
  • Furthermore, interferon-γ (IFN-γ), a pro-inflammatory cytokine involved in the well-characterized cytokine storm of COVID-19, was demonstrated to up-regulate the expression levels of the mRNA encoding for ACE-2 in thyroid cells [ 20 ]. (springer.com)
  • Furthermore, while VitD is known to up-regulate ACE-2 mRNA expression in several human cells, no data are available regarding the possible effect of VitD on mRNA and protein of ACE-2 receptor expression in thyroid cells. (springer.com)
  • Knockout mice are lines of mice in which specific genes have been completely disrupted, or knocked out. (nih.gov)
  • In this case, Cre recombinase is fused to a portion of the mouse estrogen receptor (ER) which contains a mutation within its ligand binding domain (LBD). (wikipedia.org)
  • The SLC29A3 gene (encoding ENT3) on chromosome 10 contains six exons, with mutation sites concentrated in the last exon encoding almost the entire carboxyl-half of ENT3 18 . (nature.com)
  • A mutation in this gene (−116C/G) is associated with bipolar disorder in the Japanese population [ 6 ] and XBP1 expression is reduced in patients with BD [ 7 , 8 ]. (hindawi.com)
  • A minimum of four (4) mutant mice, heterozygous for the selected mutation on a mixed 129S5;B6 background. (taconic.com)
  • The knockout mouse models included in Taconic's substantial portfolio were generated by Lexicon Genetics Incorporated using proprietary embryonic stem (ES) cells bearing a genetically engineered mutation, with concentration on the 'druggable' gene classes. (taconic.com)
  • The inverted genes are not often associated with abnormal phenotypes, meaning the inverted genes are generally viable. (wikipedia.org)
  • While this research has developed along multiple avenues, efforts in the areas of chromatin & epigenetics, and stem cell biology have become particularly intense. (nih.gov)
  • The ERC program is exploring the biology of extracellular RNA (exRNA), which is known to play a role in cell-to-cell communication. (nih.gov)
  • p class=\'abstract\'>Thymic stromal cells (TSCs) are critical regulators of T cell tolerance, but their basic biology has remained under-characterized because they are relatively rare and difficult to isolate. (stanford.edu)
  • Toward the specific objective of finding factors that suppress stem cell biology, we have conducted two preliminary human iPS cell based screens using a tool called an shRNA library, which is commercially available. (ca.gov)
  • Calreticulin has been implicated to play a role in almost every aspect of cell biology as outlined in a brief overview below. (bio.net)
  • Furthermore, mass spectrometry-based metabolomics and bioenergetics studies identify defects in fatty acid utilization, and alterations in mitochondrial bioenergetics can additionally propel stem cell deficits. (nature.com)
  • Covered by several issued patents that Taconic has exclusive license to commercialize, this technology enables generation of highly specific alterations in targeted genes. (taconic.com)
  • To produce a diverse antibody repertoire, immunoglobulin heavy-chain (Igh) loci undergo large-scale alterations in structure to facilitate juxtaposition and recombination of spatially separated variable (V), diversity (D), and joining (J) genes. (babraham.ac.uk)
  • 3] Master regulator: A gene or protein that controls a particular biological pathway. (sciencedaily.com)
  • Treatment of cells with AZD2858 stimulates the Wnt/β-catenin signaling pathway, yet the function of this pathway in tooth regeneration remains unclear. (techscience.com)
  • While unaffected by chronic treatment with the SSRI fluoxetine, the knockout mice became less anxious after chronic treatment with tricyclic antidepressants, which act via another neurotransmitter, norepinephrine, suggesting an independent molecular pathway. (biopsychiatry.com)
  • The National Institutes of Health (NIH) announced today it will provide $4.8 million to establish and support a repository for its Knockout Mouse Project. (nih.gov)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • Floxing a gene allows it to be deleted (knocked out), translocated or inserted (through various mechanisms in Cre-Lox recombination). (wikipedia.org)
  • The analysis of these genes for understanding the mechanisms of AiP and their potential role in cancer is in progress. (umassmed.edu)
  • A major focus of the Kelliher lab is to understand the underlying mechanisms that contribute to refractory T cell acute lymphoblastic leukemia (T-ALL). (umassmed.edu)
  • As these cells are known to detect bitter or toxic substances, the study provides insights into the body's innate defense mechanisms and could lead to the development of new drugs in future. (sciencedaily.com)
  • My hypothesis is that PI5P4K is a critical regulator of AR signaling that supports PCa cell survival by influencing metabolic stress cooping mechanisms. (europa.eu)
  • Transcriptome and accessibility analyses suggest reduced expression of B lineage transcription factors (TFs) and targets and loss of D and V antisense transcription in IL-7Rα B cells. (babraham.ac.uk)
  • ELF3 was mostly expressed in kidney tubular epithelial cells. (asn-online.org)
  • Cholangiocarcinoma (CCA) represents the epithelial cell cancer with high aggressiveness whose five-year survival rate is poor with standard treatment. (techscience.com)
  • IMPC scientists adhere to uniform and standardized protocols for data collection, data reporting, and phenotyping across a broad range of biological systems to discover gene function. (nih.gov)
  • Based on our previous studies, we knew that Skn-1a plays an essential role in generating these cells, for example, in the nose," says Junji Hirota, associate professor at the Center for Biological Resources and Informatics, Tokyo Institute of Technology (Tokyo Tech). (sciencedaily.com)
  • We inject ESC-targeted clones or induced pluripotent stem (iPS) cells into the blastocysts of a donor strain. (nyu.edu)
  • Increased Availability of Genetically Altered Mice Will Aid Studies of Human Diseases. (nih.gov)
  • This award is the final component of a more than $50 million trans-NIH initiative to increase the availability of genetically altered mice and related materials. (nih.gov)
  • The Gene Transfer Core provides research and technical services to NIDCR laboratories for the generation and preservation of genetically altered animal models. (nih.gov)
  • In particular, we describe the TIGRE2.0 transgenic platform and introduce Cre-dependent reporter lines that enable optical physiology, optogenetics, and sparse labeling of genetically defined cell populations. (nih.gov)
  • Genetically modified mouse (transgenic and knock out). (kpfu.ru)
  • In particular, they rely on genetically engineered mouse models where it is possible to analyze patient-derived xenografts from pediatric and adult T-ALL patients at diagnosis and upon relapse. (umassmed.edu)
  • Eliminating the time associated with the design and development of these genetically engineered mouse models provides a tremendous competitive advantage. (taconic.com)
  • Gene targeting by homologous recombination in mouse ES cells is the most widely used, versatile, and accepted method for the generation of knockout mouse lines. (taconic.com)
  • Unlike gene targeting by homologous recombination, a single gene trap vector can be used to mutate thousands of individual genes in mouse ES cells, as well as enable the rapid identification of the mutated genes. (taconic.com)
  • Here we investigated its prevalence in pediatric B-cell acute lymphoblastic leukemias (BALL), where SFs are not mutated. (iscb.org)
  • The scientist can then evaluate the effects of the knocked-out gene and identify the gene's normal function. (wikipedia.org)
  • This is different from having the gene absent starting from conception, whereby inactivation or loss of genes that are essential for the development of the organism may interfere with the normal function of cells and prevent the production of viable offspring. (wikipedia.org)
  • ENT3 is unique as the only intracellular nucleoside transporter in the family with putative localization in late endosomes, lysosomes, and mitochondria (other human ENTs (hENTs) primarily function at the cell surface) 19 , 20 . (nature.com)
  • A conditional knockout resource for the genome-wide study of mouse gene function. (nih.gov)
  • We therefore hypothesize that the lack of Wfs1 function in Wfs1 KO mice mimics to a certain extent the aberrant ER stress response observed in some patients with BD. (hindawi.com)
  • Gene knockout, gene Knock-in, conditional gene knockout for function analysis of genes. (nih.gov)
  • Mice homozgyos for an ENU-induced allele exhibit normal exercise capacity and cardiac function. (jax.org)
  • Although their precise function in areas other than the mouth are not fully known, these sensory cells are thought to play an important "gatekeeper" role, protecting the body against bacteria and potentially harmful substances. (sciencedaily.com)
  • To fulfill their function, Purkinje cells develop one of the most elaborate dendritic arbors among all neurons and thus belong to the largest neurons of the vertebrate brain. (jneurosci.org)
  • In addition we are working to investigate Myc epigenetic function in human iPS cells.Together this is substantial progress toward the goals of Aim 2 of the award. (ca.gov)
  • A dual-AAV approach restores fast exocytosis and partially rescues auditory function in deaf otoferlin knock-out mice. (mpg.de)
  • Forms of a gene known to increase risk for schizophrenia may create an imbalance in brain pathways for dopamine, suggests a recent study by NIMH scientists. (nih.gov)
  • PEG10 expression was suppressed by TGF-β signaling, and PEG10 interfered with the TGF-β and BMP-SMAD pathways in chondrosarcoma cells. (cancerindex.org)
  • These genes were enriched in RNA processing pathways and encoded ~100 SFs, e.g. hnRNPA1. (iscb.org)
  • Deletion events are useful for performing gene editing experiments through precisely editing out segments of or even whole genes. (wikipedia.org)
  • Effects on clonal deletion and autoimmune indicators were diminished in catalase transgenic mice when autophagy was rescued by expression of the Becn1F121A/F121A knock-in allele. (stanford.edu)
  • 4] Knockout mice: Experimental mice with a targeted deletion of a protein or gene prepared for the purpose of understanding the role of the deleted component. (sciencedaily.com)
  • Nuclear erythroid 2-related factor 2 (Nrf2) presumably helps neurons fight this damage by binding a DNA sequence known as the antioxidant response element (ARE) to ramp up expression of protective genes. (alzforum.org)
  • In these mice, MPTP treatment increased reporter activity in the substantia nigra, consistent with Nrf2-mediated activation of protective genes in that PD-affected region. (alzforum.org)
  • Nrf2 knockout mice showed increased sensitivity to the toxin, compared with wild-type animals. (alzforum.org)
  • Conversely, MPTP-mediated neuronal death disappeared in transgenic mice that overexpressed Nrf2-even when expression of the gene was restricted to astrocytes (by putting into Nrf2 knockout mice a Nrf2 transgene driven by an astrocyte-specific promoter). (alzforum.org)
  • Postmortem brain tissue from Parkinson's patients shows enhanced expression of several ARE-driven genes (NAD(P)H:quinone oxidoreductase 1and heme oxygenase-1), supporting the potential importance of Nrf2-ARE signaling in PD. (alzforum.org)
  • Description: RNA profiling data sets generated by the Mouse ENCODE project. (nih.gov)
  • Additional isoforms resulting from alternatively spliced transcript variants, and use of upstream non-AUG (CUG) start codon have been reported for this gene. (cancerindex.org)
  • In addition, NIH issued smaller awards to the University of Pennsylvania and the Samuel Lunenfeld Research Institute of Mount Sinai Hospital in Toronto to improve the efficiency of methods for creating knockout lines. (nih.gov)
  • Development of embryonic stem (ES) and induced pluripotent stem (iPS) cell lines from different species including mouse and Thicket rat. (nih.gov)
  • MGGM is creating ES cell lines from different species including mouse and Thicket rat as model for malaria research. (nih.gov)
  • Here, we report a large set of driver and reporter transgenic mouse lines, including 23 new driver lines targeting a variety of cortical and subcortical cell populations and 26 new reporter lines expressing an array of molecular tools. (nih.gov)
  • These models include conditional knockout and transgenic mouse lines that allow selective initiation of tumors in distinct cell types to mimic different types of cancer, such as pancreatic and liver cancer. (umassmed.edu)
  • have developed several lines of knockout mice to investigate a subset of noncoding RNA molecules known as long intergenic noncoding RNAs (lincRNAs). (elifesciences.org)
  • To this end, highly immunodeficient mouse lines like the NOD.Cg- Prkdc scid Il2rg tm1Wjl /SzJ (NSG™, Stock# 005557 ) are an exciting and powerful development, particularly in understanding human immunology. (jax.org)
  • For most lines, the mouse ES cells used in generating the model are of the 129S5 strain. (taconic.com)
  • New lines are regularly added to the database, and with the most recent update, Taconic is now offering access to over 4,000 knockout mouse models. (taconic.com)
  • For example, cancer cells preferentially perform glycolysis in the cytosol even in the presence of oxygen, a phenomenon that is known as the "Warburg effect" or "aerobic glycolysis. (frontiersin.org)
  • Objective: Identification and validation of genes that functionally account for the growth and metastasis of prostate cancer. (benthamscience.com)
  • In attempt to answer these questions I generated the first prostate-specific knock-out mouse model PI5P4K in both normal prostate and in combination with an established model of aggressive cancer. (europa.eu)
  • As well, advanced metabolomics technology was used to measure how PI5P4K influences metabolic networks that drive the survival of cancer cells. (europa.eu)
  • Side population (SP) cells are widely identified as stem-like cancer cells and are closely related to carcinoma metastasis, recurrence, and poor patient prognosis. (techscience.com)
  • Cytokine and gene expression analysis. (kpfu.ru)
  • 2013 Human dendritic cells transfected with a human papilloma virus-18 construct display decreased mobility and upregulated cytokine production. (kpfu.ru)
  • Knockout mice that lack expression of important cytokine and chemokine genes and their receptors are also used for pathogenesis studies. (nih.gov)
  • the former leads to stem cell exhaustion, and the latter leads to breaches of mesodermal tissue integrity. (nature.com)
  • Infectivity of its tissue cysts, bradyzoites, and tachyzoites to animals and cell culture was studied. (usda.gov)
  • The bradyzoites and tissue cysts were not infectious to out-bred mice, rabbits or gerbils. (usda.gov)
  • lncRNAs are found in every branch of life, displaying a high degree of tissue- and cell-specific distribution ( 9 ). (frontiersin.org)
  • While NSG mice are highly deficient in lymphocytes, a limitation to using this strain is that NSG mice still maintain some phagocyte functionality, potentially confounding evaluation of therapies aimed at correcting defective phagocytes in engrafted human tissue. (jax.org)
  • Preliminary data shows that PI5P4K protein is present in PCa tissue and cell models generated from patient tumors. (europa.eu)