• Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • Brain and muscle Arnt-like protein-1 ( BMAL1 ) knockout mice exhibit accelerated aging, abnormal glucose metabolism, and impaired adipocyte differentiation, among other phenotypes, which are effects associated with the BMAL1 gene. (go.jp)
  • Some of the phenotypes of Mecp2 knockout mice can be ameliorated by administering IGF1. (nih.gov)
  • In the present review, the phenotypes of Met gene‑modified mice are summarized. (spandidos-publications.com)
  • Accordingly, Itgb3 knockout (KO) mice exhibit autism-like phenotypes. (units.it)
  • Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)
  • Homozygous knockout mice exhibit impaired motor coordination. (nih.gov)
  • Mice homozygous for a knock-out allele exhibit normal fertility. (jax.org)
  • Mice homozygous for a knock-out allele exhibit embryonic lethality. (jax.org)
  • Homozygous Steroid Receptor Coactivator-2 ( SRC-2 ) knockout ( SRC-2 -/- ) mice ( Mus musculus ) exhibit a range of aberrant behavioral activities during light/dark cycles, from bimodal/phase-advanced wheel-running locomotor activity to complete arrhythmicity. (cas.cz)
  • Homozygous knockout mice for this gene exhibit impaired cancer cell invasion in a breast cancer model. (enigmadiagnostics.com)
  • PHENOTYPE: Homozygous null mice display impaired coordination that is not due to muscle weakness or bradykinesia. (utsouthwestern.edu)
  • gem homozygous receptor mutant HCs display normal cell viability, afferent synaptogenesis, and peripheral innervation, yet exhibit strongly reduced extracellular potentials (∼50% of wild-type potentials). (jneurosci.org)
  • Homozygous knockout mice for this gene exhibit enhanced anxiety-like behavior. (utsouthwestern.edu)
  • PHENOTYPE: Mice homozygous for a knock-out allele display significantly increased anxiety-like behavior under stressful conditions as well as increased prepulse inhibition and a reduced startle amplitude with no detectable changes in exploratory locomotion or behavioral despair. (utsouthwestern.edu)
  • The genomic location, expression pattern, and ataxic phenotype of Chd6 Exon 12 -/- mice indicate that mutations within CHD6 may be responsible for ataxias. (nih.gov)
  • The phenotype of the L1 mutant mouse indicates that it is a potentially valuable model for the human CRASH syndrome. (jneurosci.org)
  • Senp2 knockout mice exhibited a lipodystrophy-like phenotype. (deepdyve.com)
  • Challenging FIT2-LKO mice with a high-fat diet worsened hepatic ER stress and liver injury, but unexpectedly reversed the steatosis phenotype, similar to what is observed in FIT2-deficient cells loaded with fatty acids. (sdsc.edu)
  • Sodium channel subunit beta-3 is a protein that in humans is encoded by the SCN3B gene. (wikipedia.org)
  • Mutation or deletion of the SHANK3 gene, which encodes a synaptic scaffolding protein, is linked to autism spectrum disorder and Phelan-McDermid syndrome, conditions associated with social memory impairments. (researchgate.net)
  • To directly compare the specificity and efficacy of different Cre lines in mediating adipocyte specific recombination, transgenic Cre lines driven by the adipocyte protein 2 (aP2) and adiponectin (Adipoq) gene promoters, as well as a tamoxifen-inducible Cre driven by the aP2 gene promoter (iaP2), were bred to the Rosa26R (R26R) reporter. (diabetesjournals.org)
  • We further found that SET domain bifurcated 1 (Setdb1) was a SUMOylated protein and that SUMOylation promoted Setdb1 occupancy on the promoter locus of Pparg and Cebpa genes to suppress their expressions by H3K9me3. (deepdyve.com)
  • We found that SET domain bifurcated 1 Since no difference in food intake was observed between adqcKO f/f (Setdb1) was a SUMOylated protein and that Senp2 de-SUMOylated Senp2 and Senp2 mice fedeitherwithNCD or HFD and regulated Setdb1 action in trimethylation at histone 3 lysine 9 (Supplementary Figure S2A). (deepdyve.com)
  • Importantly, TAIMAN is related to the mammalian SRC-2 protein, which is involved in regulating circadian clock machinery in mice ( Mus musculus ). (cas.cz)
  • The protein encoded by this gene is a lysosomal cysteine proteinase and a member of the C1 peptidase family. (enigmadiagnostics.com)
  • The encoded protein is also known as cathepsin X and cathepsin P. This gene is ubiquitously expressed in cancer cell lines and primary tumors and, like other members of this family, may be involved in tumorigenesis. (enigmadiagnostics.com)
  • Macrophage stimulating protein (MSP) was discovered as a serum protein that promoted mouse macrophage motility ( 13 ), and was later purified to homogeneity from human plasma ( 14 ). (spandidos-publications.com)
  • Telomerase is a complex of a reverse transcriptase protein encoded by the TERT (telomerase reverse transcriptase) gene and a template RNA TERC (telomerase RNA component). (nature.com)
  • FUNCTION: This gene encodes a member of the RING finger family of E3 ubiquitin-protein ligases. (utsouthwestern.edu)
  • Furthermore, ectopic deposition of H2AK119ub on the Smad2 target gene gsc using a ring1a-smad2 fusion protein led to ectopic recruitment of RSF1. (bvsalud.org)
  • Pansensitive and panresistant genes to 21 NCCN-recommended drugs with concordant mRNA and protein expression were identified. (cdc.gov)
  • TCDD for every step of the mechanism described for 2,3,7,8-TCDD carcinogenesis in humans including receptor binding, gene expression, protein activity changes, cellular replication, oxidative stress, promotion in initiation-promotion studies and complete carcinogenesis in laboratory animals. (who.int)
  • The gene affected encodes a SH2D1A protein consisting only of a SH2 domain and a short C-terminal tail [Sayos et al. (lu.se)
  • ZAP-70 deficiency is a rare autosomal recessive form of severe combined immunodeficiency (SCID) caused by mutations in the gene coding for T cell receptor z-chain associated protein kinase [ Chan et al. (lu.se)
  • Noonan syndrome (NS) is caused by mutations in PTPN11 , a gene encoding the nonreceptor protein tyrosine phosphatase SHP2. (lu.se)
  • Mutations in the gene are associated with abnormal cardiac electrophysiology. (wikipedia.org)
  • Mice heterozygous for this allele exhibit abnormal liver and circulating shingolipid levels. (jax.org)
  • HNMT is expressed in the central nervous system, where it may play a critical regulatory role because its deficiency is related to aggressive behaviour and abnormal sleep-wake cycles in mice [ 4 ]. (hindawi.com)
  • 1998]. XLP patients exhibit immune defects such as abnormal natural killer and T cell mediated cytotoxicity. (lu.se)
  • In the motor, somatosensory, and visual cortex, many pyramidal neurons in layer V exhibited undulating apical dendrites that did not reach layer I. The hippocampus of L1 mutant mice was smaller than normal, with fewer pyramidal and granule cells. (jneurosci.org)
  • The findings, made in mice, explain why most but not all motor neurons are affected by the disease and identify a potential therapeutic target for this still-incurable neurodegenerative disease. (sciencedaily.com)
  • To understand why only some motor neurons are vulnerable to ALS, the researchers used DNA microarray profiling to compare the activity of tens of thousands of genes in neurons that resist ALS (oculomotor neurons/eye movement and Onuf's nuclei/continence) with neurons affected by ALS (lumbar 5 spinal neurons/leg movement). (sciencedaily.com)
  • The neurons were taken from normal mice. (sciencedaily.com)
  • We found a number of candidate 'susceptibility' genes -- genes that were expressed only in vulnerable motor neurons. (sciencedaily.com)
  • This gene is needed for development of a full complement of serotonin neurons in the brain. (tcnjmagazine.com)
  • Consequently, loss of Pet-1 gene function results in a 70-percent deficit of serotonin neurons in the knockout mice. (tcnjmagazine.com)
  • Those studies used mice lacking serotonergic neurons resulting from the loss of function mutations in the gene encoding the LIM homeobox transcription factor 1 ( Lmx1b ). (aspetjournals.org)
  • The multifunctional regulator nuclear factor erythroid 2-related factor (Nrf2) is considered not only as a cytoprotective factor regulating the expression of genes coding for anti-oxidant, anti-inflammatory and detoxifying proteins, but it is also a powerful modulator of species longevity. (springer.com)
  • The major characteristics of Nrf2 are to some extent mimicked by Nrf2-dependent genes and their proteins including heme oxygenase-1 (HO-1), which besides removing toxic heme, produces biliverdin, iron ions and carbon monoxide. (springer.com)
  • Polycomb group (PcG) proteins are key regulators of gene expression and developmental programs via covalent modification of histones, but the factors that interpret histone modification marks to regulate embryogenesis are less studied. (bvsalud.org)
  • This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. (wikipedia.org)
  • This gene encodes a member of the chromodomain/helicase/DNA-binding domain family of chromatin remodeling enzymes. (nih.gov)
  • Lee, R. C., Feinbaum, R. L. & Ambros, V. The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14 . (nature.com)
  • This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. (enigmadiagnostics.com)
  • We hypothesize that there might be at least three types of autism susceptibility genes/mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. (neurotransmitter.net)
  • In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region. (neurotransmitter.net)
  • Many mutations in autism spectrum disorder (ASD) affect a single allele, indicating a key role for gene dosage in ASD susceptibility. (units.it)
  • Consistent with this notion, we have found that Smurf2-deficient mouse embryonic fibroblasts exhibit delayed senescence entry and enhanced potential to become immortalized in culture, while Smurf2-deficient mice show increased susceptibility to various types of cancer, including B-cell lymphoma, hepatocellular carcinoma, adenocarcinoma in small intestine and soft tissue sarcoma. (umassmed.edu)
  • Although less fat stor- adqcKO pose lipid storage in adipocyte-speci﫿c Senp2 knockout mice fed age was shown in Senp2 adipose tissues, the increased with high-fat diets (HFD). (deepdyve.com)
  • The discovery of the antioxidant response element (ARE) have led to the conclusion that the battery of genes, including glutamate-cysteine ligase (GCL), thioredoxin reductase 1 (Txnrd1), NAD(P)H-quinone oxidoreductase 1 (NQO1) and heme oxygenase-1 (HMOX1) is regulated through Nrf2 binding to this consensus binding sequence [ 3 ]. (springer.com)
  • The Fmr1, Shank2 and Cntn5 knockout mice exhibited alterations of glutamate receptors, which may become a target for pharmacologic modulation. (nih.gov)
  • Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. (neurotransmitter.net)
  • Two single nucleotide polymorphisms (SNPs) that showed evidence for divergent distribution between autistic and nonautistic subjects were identified, both within SLC25A12, a gene encoding the mitochondrial aspartate/glutamate carrier (AGC1). (neurotransmitter.net)
  • The CLOCK/BMAL1 heterodimer activates the transcription of Per/Cry genes, and the production and resulting phosphorylation of PER/CRY inhibit the CLOCK/BMAL1 heterodimer, reducing the transcription of Per/Cry forming the negative feedback loop required to maintain circadian rhythmicity at a basic molecular level. (frontiersin.org)
  • encoded by Nfe2l2 gene) is a transcription factor responsible for the regulation of cellular redox balance and protective antioxidant and phase II detoxification responses in mammals [ 1 , 2 ]. (springer.com)
  • Nrf2 stabilization and increase in its half-life even to 200 min [ 9 ] allows nuclear translocation and activation of transcription of cytoprotective genes (Fig. 1 ). (springer.com)
  • Exposed C57BL/6 mice exhibited a specific network of type I interferon signaling in blood cells and aorta from 4hr to 28d post-exposure The central component of the network was the transcription factor interferon regulatory factor 7 (Irf7), the master regulator of the type I interferon response. (cdc.gov)
  • Autosomal dominant BOFS is caused by mutations in the TFAP2A (transcription factor AP-2α) gene. (preventiongenetics.com)
  • STAT5B acts as a part of the growth hormone signalling pathway leading to stimulation of insulin-like growth factor I (IGF-I) gene transcription [Woelfle et al. (lu.se)
  • Transgenic mouse models. (nih.gov)
  • We are generating conditional Smurf2 knockout and transgenic mouse models to dissect the precise mechanism of Smurf2-mediated tumor suppression. (umassmed.edu)
  • At 25 weeks, deformation of the mandibular condyle was seen in 8 of 12 joints in BMAL1 knockout mice and in 2 of 12 joints in wild-type mice. (go.jp)
  • At 20 and 25 weeks, deformation in areas surrounding the mandibular condyle, which are known to undergo calcification, was seen in 2 of 12 joints in BMAL1 knockout mice and in 0 of 12 joints in wild-type mice. (go.jp)
  • BMAL1 knockout mice exhibited premature aging of the mandibular condyle, which suggests that circadian rhythms affect mandibular condyle morphology. (go.jp)
  • GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
  • The single-cell transcriptome and organoid analyses showed that Pclaf-DREAM complex-transactivated gene expression is required for alveolar type II (AT2) cell transition into AT1. (biorxiv.org)
  • Alzheimer's patients exhibit high degradation of the suprachiasmatic nucleus (SCN), the central endogenous circadian timekeeper, and Parkinson's patients have highly disrupted peripheral clock gene expression. (frontiersin.org)
  • Transactivation of miR-34a by p53 broadly influences gene expression and promotes apoptosis. (nature.com)
  • In apoE-/- mice, pulmonary inflammation, serum levels of IL-1â and MAC-3 and blood cell expression of Irf7 were increased post-GMA-SS exposure. (cdc.gov)
  • In adipocyte Senp2-de﫿ciency mice, accumulation of the SUMOylated Setdb1 suppressed the expression of Pparg and Cebpa genes as well as lipid metabolism-related target genes, which would decrease the ability of lipid storage in adipocytes. (deepdyve.com)
  • thus, Pnn may affect crucial alternative splicing (AS) decisions and, in turn, impact cell-type specific gene expression. (molvis.org)
  • Various growth factors, cytokines, and prostaglandins upregulate HGF gene expression, including basic fibroblast growth factor, oncostatin M, hypoxia-inducible factor 1α and nuclear factor-κB (NF-κB) ( 9 ). (spandidos-publications.com)
  • By contrast, transforming growth factor (TGF)-β1 was demonstrated to markedly downregulate HGF gene expression ( 10 , 11 ). (spandidos-publications.com)
  • Microarray data revealed that the Wrn(∆hel/∆hel) genotype does not affect the expression of many genes within the isolated hepatocytes or liver sinusoidal endothelial cells. (nih.gov)
  • Following azoxymethane and dextran sodium sulfate (DSS) treatment, fewer total tumours were observed in the ILK knockout animals, which were mosaic with respect to ILK expression. (bmj.com)
  • Hypoxia was found to induce A498 cell invasion, migration, and the release of inflammatory cytokines, while repressing human solute carrier family 14 member 1 gene expression. (biomedcentral.com)
  • Significant downregulation of beta-defensin1 gene (DEFB1) expression was observed when human bronchial epithelial cells (HBEpCs) were exposed to IAV. (cdc.gov)
  • Berry intake changes hepatic gene expression and DNA methylation patterns associated with high-fat diet. (lu.se)
  • This is not surprising given the strong evidence for interaction between myelin and axon gene expression in development and after experimental nerve lesions. (medscape.com)
  • C57BL/6 mice were exposed for 10d to GMA-SS by inhalation (40mg/m3 for 3hr/day) and harvested 4hr, 14d and 28d post-exposure. (cdc.gov)
  • Here, we used myeloperoxidase knockout B6.129X1-MPO (MPO k/o) mice and showed that oxidation and clearance of single walled carbon nanotubes (SWCNT) from the lungs of these animals after pharyngeal aspiration was markedly less effective whereas the inflammatory response was more robust than in wild-type C57Bl/6 mice. (cdc.gov)
  • In addition, hepatocytes are larger, have increased lipofuscin deposition, more frequent nuclear morphological anomalies, decreased mitochondria number, and increased mitochondrial diameter compared to wild-type mice. (nih.gov)
  • Cyclin D1, Snail, fibronectin and matrix metalloproteinase 9 (MMP9) were all reduced, and active caspase 3 increased, in tumours from ILK knockout mice, as compared with wild-type mice, on immunohistochemical analysis. (bmj.com)
  • This review provides an overview of the genetic basis of EOAD and the relationship between the functions of these risk genes and the neuropathologic features of AD. (oncotarget.com)
  • The insulin-producing cells that we can make from these patients can then be used to understand the mechanisms by which these risk genes cause dysfunction of beta-cells. (lu.se)
  • Eventually, autism may indeed turn out to be a phenotypically heterogeneous group of disorders ('autisms') caused by combinations of changes in multiple possible candidate genes, being different in each patient and requiring for each combination of mutations a distinct, individually tailored treatment. (nih.gov)
  • METHOD: Mutation screening of positional candidate genes was performed in two stages. (neurotransmitter.net)
  • The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)
  • A) Lymphomas found in Smurf2-deficient mice have the characteristics of diffuse large B-cell lymphoma (DLBCL) and enhanced cell proliferation. (umassmed.edu)
  • Experimentally confirmed target genes were identified for the 73 diagnostic miRNAs, from which proliferation genes were selected from CRISPR-Cas9/RNA interference (RNAi) screening assays. (cdc.gov)
  • The transfer of lymphocytes or ethylene di-isocyanate (HDI), which are used in a serum from sensitized mice can cause clinical disease in naive variety of industries including polyurethane foam mice. (cdc.gov)
  • Here we report that mice deficient for all miR-34/449 miRNAs exhibited postnatal mortality, infertility and strong respiratory dysfunction caused by defective mucociliary clearance. (nature.com)
  • The Adipoq-Cre exhibited no observable recombination in any other tissues examined, whereas both aP2-Cre lines resulted in recombination in endothelial cells of the heart and nonendothelial, nonmyocyte cells in the skeletal muscle. (diabetesjournals.org)
  • 1999). AP-2α knockout mice studies have shown that loss of AP-2α in multiple tissues in the craniofacial region leads to severe optic cup patterning defects and failure of optic stalk morphogenesis. (preventiongenetics.com)
  • Log average relative transcript abundance in mouse tissues measured by qPCR from Regard, J.B., Sato, I.T., and Coughlin, S.R. (2008). (guidetopharmacology.org)
  • Early progenitor cells, which are designated A spermatogonia in the mouse and A- dark spermatogonia in humans, are defined as "undifferentiated. (jci.org)
  • Once spermatogonia enter the "differentiation" pathway, they become known as A1 spermatogonia in the mouse and A- pale spermatogonia in humans and begin a series of irreversible differentiation steps leading to meiosis and spermiogenesis ( 1 ) (Figure 1 ). (jci.org)
  • From this point forward, the steps and cell types of spermatogenesis are conserved between mice and humans. (jci.org)
  • Basically, given the difference of telomere and telomerase activity in human and mouse cells, the telomere and telomerase status in stem cell populations is different between humans and mice ( Harrington, 2004 ). (nature.com)
  • In contrast, older animals with diabetes exhibited detrusor hypoactivity, findings consistent with clinical features of diabetes in humans. (harvard.edu)
  • Enlarged ventricles and septal abnormalities were also features of the mutant mouse brain. (jneurosci.org)
  • and the initial breathing abnormalities in surviving knockouts appear to resolve spontaneously with increasing postnatal age. (tcnjmagazine.com)
  • Continuing to fully define the breathing abnormalities in the Pet-1 knockouts is an important first step in the research program, Erickson said. (tcnjmagazine.com)
  • Alternative splicing of this gene results in multiple transcript variants. (nih.gov)
  • Interestingly, a mouse ortholog of HAS2-AS1, Has2as, clearly exhibited a differential splicing pattern among three major splice variants in the Pnn-deficient mouse cornea. (molvis.org)
  • Using variants of the open field test that contained pools of water at corners or sides of the field, we recorded the movements of mice throughout the field under various conditions. (degruyter.com)
  • Primary hypermethioninemia that is not associated with other metabolic disorders can be caused by variants (also known as mutations) in the MAT1A , GNMT , or AHCY gene. (medlineplus.gov)
  • Variants in one of these genes result in a shortage (deficiency) of an enzyme involved in breaking down methionine. (medlineplus.gov)
  • which means both copies of the gene in each cell have variants. (medlineplus.gov)
  • Here, we show that Wrn(∆hel/∆hel) mice exhibit increased extracellular matrix, defenestration, decreased fenestration diameter, and changes in markers of liver sinusoidal endothelial cell inflammation, consistent with age-related pseudocapilliarization. (nih.gov)
  • Recently, haplo-insufficiency of ITGB3, the gene encoding the extracellular matrix receptor β3 integrin, was associated with ASD. (units.it)
  • X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's tyrosine kinase (BTK) [Väliaho et al. (lu.se)
  • Negative association findings and research involving the serotonin transporter gene, FMR1, RELN, WNT2, HOXA1, and HOXB1 genes may be found elsewhere on this site . (neurotransmitter.net)
  • Connecting microRNA genes to the core transcriptional regulatory circuitry of embryonic stem cells. (nature.com)
  • 1996). The retinoic acid-inducible AP-2 family members (AP-2α, AP-2β, AP-2δ, AP-2γ, and AP-2ε) are shown to be expressed in several embryonic areas such as the forebrain, face and limb buds during mouse embryogenesis (Chazaud et al. (preventiongenetics.com)
  • In contrast to T cells, which did not exhibit a significant difference, B cells from PPARγ +/- showed an enhanced proliferative response to stimulation by either lipopolysaccharide or cross-linking of antigen receptors. (jci.org)
  • 2003). Selective Cellular uptake of fatty acids and following storage in the form of disruption of Pparγ2 or adipocyte-speci﫿c Pparγ knockout leads TGs in adipocytes are key steps in lipid storage. (deepdyve.com)
  • Gene knockout and localization studies were also performed on PfNapS using transfection studies. (biomedcentral.com)
  • A set of core genes constitutes this transcriptional pathway that forms the identity of the endogenous circadian pacemaker. (frontiersin.org)
  • These processes to severe lipodystrophy and induces insulin resistance in mice (He et al. (deepdyve.com)
  • This mouse also showed an ectopic lipid in﫿ammation indicates that HFD induced adipocyte death would distribution and insulin resistance. (deepdyve.com)
  • adqcKO Mechanistically, adipocyte Senp2 de﫿ciency caused the downregula- Senp2 mice exhibit an ectopic lipid accumulation and tion of Pparg and Cebpa as well as their downstream target genes insulin resistance related to lipid storage. (deepdyve.com)
  • Mutations in the PIK3R1 gene encoding phosphatidylinositol 3-kinase (PI3-kinase) have been found to cause severe insulin resistance [Baynes et al. (lu.se)
  • Conditional gene targeting has been extensively used for in vivo analysis of gene function in adipocyte cell biology but often with debate over the tissue specificity and the efficacy of inactivation. (diabetesjournals.org)
  • A resource for the conditional ablation of microRNAs in the mouse. (nature.com)
  • Conditional Met KO mice were generated using Cre‑loxP methodology and characterization of these mice indicated that the HGF‑Met signaling pathway is essential in regeneration, protection, and homeostasis in various tissue types and cells. (spandidos-publications.com)
  • Transcriptome analysis of mouse stem cells and early embryos. (nih.gov)
  • Embryos lacking E4F die at the peri-implantation stage, while in vitro-cultured E4F(-/-) blastocysts exhibit defects in mitotic progression, chromosomal missegregation, and increased apoptosis. (cnrs.fr)
  • Via positional cloning, we show that mutations in a zebrafish LTCC encoding gene, cav1.3a , underlie the auditory-vestibular defects of gemini ( gem ) circler mutants. (jneurosci.org)
  • We showed that knockdown of Xenopus RSF1, rsf1, not only induced gastrulation defects as reported previously, but specific targeted knockdown in prospective neural precursors induced neural and neural crest defects, with reductions of marker genes. (bvsalud.org)
  • In a study of 12 C57/BL strain mice under inhalation anesthesia, we collected images of the mandibular condyle at 6 weeks after birth and then every 5 weeks from 10 to 25 weeks after birth. (go.jp)
  • One of those genes, MMP-9, was strongly expressed into adulthood. (sciencedaily.com)
  • This was prompted by our finding that a variant of the gene encoding the melatonin receptor 1B is strongly associated with impaired insulin release and Type 2 Diabetes. (lu.se)
  • However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. (preventiongenetics.com)
  • Intriguingly, Pclaf knock-out mice exhibited lung fibrosis resulting from alveolar type I (AT1) cell loss. (biorxiv.org)
  • Using HSL knock out mice, we were able to demonstrate that the lipase controls insulin secretion. (lu.se)
  • PCLAF is expressed explicitly in pulmonary proliferative cells, along with the DREAM target genes. (biorxiv.org)
  • For example, last year, Erickson and Brian Sposato '08 found that knockouts are less efficient than normal mice at auto-resuscitating following exposure to low oxygen levels. (tcnjmagazine.com)
  • Anllo assessed the effects of repetitive hypoxia on the knockouts, since previous studies in normal mice have shown that prior exposure to hypoxia negatively impacts the auto-resuscitation response. (tcnjmagazine.com)
  • To do this will require a careful comparison of the anatomy and physiology of the portions of the nervous system in Pet-1 knockout and normal mice that are responsible for driving breathing behavior. (tcnjmagazine.com)
  • From the list of genes that were targeted by the 73 diagnostic miRNAs, DGKE and WDR47 had significant associations with responses to both systemic therapies and radiotherapy in lung cancer. (cdc.gov)
  • The knockout mouse model created by deletion of the RecQ helicase domain of the mouse Wrn homologue gene (Wrn(∆hel/∆hel)) is of great interest because it develops atherosclerosis and hypertriglyceridemia, conditions associated with aging liver and sinusoidal changes. (nih.gov)
  • Moreover, myeloperoxidase (MPO), an abundant enzyme of inflammatory cells (neutrophils), - involved in the principal defense mechanisms of innate immunity -was also effective in oxidative biodegradation of CNT in biochemical models and in cells yielding the products that did not cause pulmonary inflammation in mice [14] . (cdc.gov)
  • 1997]. Mutations in the STAT1 gene cause complete STAT1 deficiency. (lu.se)
  • In both mouse and Xenopus , miR-34/449-deficient multiciliated cells (MCCs) exhibited a significant decrease in cilia length and number, due to defective basal body maturation and apical docking. (nature.com)
  • Methods: Total RNA was isolated from PNN knockdown human corneal epithelial (HCET) cells or Pnn-deficient mouse corneas, and subjected to real-time-PCR (RT-PCR) assays, and the alternatively spliced lncRNAs were counted. (molvis.org)
  • More importantly, we used mice deficient in the gene encoding tryptophan hydroxylase 2 ( Tph2 ), which could not synthesize 5-HT in the brain. (aspetjournals.org)
  • Electroencephalographic (EEG) recording also showed decreased sleep in Tph2 -deficient mice. (aspetjournals.org)
  • We demonstrate DBD in a mouse model that harbors hepatic-specific insulin receptor substrate 1 and 2 deletions (double knockout [DKO]), which develops type 2 diabetes. (harvard.edu)
  • Since changes in reproductive hormone levels can also increase the probability of anxiety disorders in women, we examined the effects of ELA on adult female mice across the estrous cycle. (researchgate.net)
  • It is now well-established that the hippocampal CA2 region plays an important role in social recognition memory in adult mice. (researchgate.net)
  • B ) Histological cross section through an adult mouse testis depicting seminiferous tubules, the peritubular myoid cells, and the interstitium (space between tubules). (jci.org)
  • In another experiment, the researchers tested whether MMP-9 has a functional role in ALS by crossing MMP-9 knockout mice with SOD1 mutant mice (a standard mouse model of ALS). (sciencedaily.com)
  • The same effect on motor neuron function was seen when MMP-9 was inactivated in SOD1 mutant mice using chemical injections or virally mediated gene therapy. (sciencedaily.com)
  • Recent findings show that encountered in the workplace include toluene diisocya- sensitized mice develop airway hyperreactivity and inflammation, nate (TDI), diphenyl-methane diisocyanate and hexam- reflective of human disease. (cdc.gov)
  • This effect on nerve-muscle synapses is the largest ever seen in a mouse model of ALS," said Dr. Spiller. (sciencedaily.com)
  • A polygenic model in which multiple genes interact either in an additive or a synergistic way appears the most plausible for the majority of ASD patients. (nih.gov)
  • The advancement of therapeutic strategies for aquaphobia thus depends on the acquisition of experimental evidence identifying the neurochemical and neuroanatomical pathways underlying phobias [ 15 ], and given their aversion to water, mice are a tempting model organism for investigations into aquaphobia. (degruyter.com)
  • We showed how insulin deficiency in Friedreich's ataxia is likely to evolve, and that a mouse model for Huntington's disease develops diabetes due to loss of beta-cells. (lu.se)
  • tai / SRC ancestor gene got triplicated in a jawed vertebrate lineage, whereas insects possess a single tai gene. (cas.cz)
  • Our findings reveal an unexpected functional interaction between two ASD genes, thereby validating the pathogenicity of ITGB3 haplo-insufficiency. (units.it)
  • CHD6, a cellular repressor of influenza virus replication, is degraded in human alveolar epithelial cells and mice lungs during infection. (nih.gov)
  • To assess the therapeutic potential of regulating Itgb3 gene dosage, we implemented CRISPR activation and compared its efficacy with that of a pharmacological rescue strategy for fragile X syndrome. (units.it)
  • The pathophysiological mechanisms of Itgb3 remain, however, unknown, and the potential of targeting this gene for developing ASD therapies uninvestigated. (units.it)