• Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • Mutations that delete some components produce fertile phenotypes with subtler effects that provide useful insights into acrosomal matrix function in fertilization. (nih.gov)
  • To describe the clinical phenotype and genetic basis of non-syndromic retinitis pigmentosa (RP) in one family and two sporadic cases with biallelic mutations in the transcription factor neural retina leucine zipper ( NRL) . (molvis.org)
  • Individuals with the autosomal recessive skeletal disorder Progressive Pseudorheumatoid Dysplasia have loss-of-function mutations in WISP3, and aberrant WISP3 expression has been detected in tumors from patients with colon and breast cancer. (harvard.edu)
  • Thus, mutations in the TGM1 secondarily cause defects in the intercellular lipid layers in the stratum corneum, leading to defective barrier function of the stratum corneum and to the ichthyotic phenotype seen in lamellar ichthyosis patients and in transglutaminase 1 knockout mice. (medscape.com)
  • We investigated the effect of loss-of-function mutations in 30 unique gene knockout (KO) lines on plasma metabolites, including genes coding for structural proteins (11 of 30), metabolic pathway enzymes (12 of 30) and protein kinases (7 of 30). (bvsalud.org)
  • 2019). Using the APP/PS1 transgenic mouse model co-expressing the familial Advertisement Swedish mutations (APPstudy, basically the mitochondrial fission flaws had been rescued by co-expression of mitochondrial pro-fusion genes Marf, Opa1, as well as the prominent negative mutant type of Drp1 (Altanbyek et al. (citiesofdata.org)
  • Loss-of- function mutations in one allele of TBK1 gene causes dominantly inherited ALS in humans. (neurodegenerationresearch.eu)
  • 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)
  • Moreover, IGSF1 mutations are also commonly associated with other clinical phenotypes, including prolactin and growth hormone dysregulation, and macroorchidism. (medscape.com)
  • We demonstrate how to link metabolomics to genotypes and ( disease ) phenotypes . (bvsalud.org)
  • This article is a brief introduction to the study of CMT and correlates the most common different genotypes and phenotypes. (medscape.com)
  • Among the 35-50 genes deleted, the T-box gene TBX1 appears to be responsible for most aspects of the DiGeorge phenotype. (medscape.com)
  • The genomes of malaria parasites contain many genes of unknown function. (gla.ac.uk)
  • Systematic analyses of loss-of-function phenotypes have been carried out for most genes in Saccharomyces cerevisiae , Caenorhabditis elegans , and Drosophila melanogaster . (biomedcentral.com)
  • We used this assay to examine the redundancy of duplicated genes in the genome of C. elegans that correspond to single orthologs in S. cerevisiae or D. melanogaster and identified 16 pairs of duplicated genes that have redundant functions. (biomedcentral.com)
  • Using this technique, we demonstrated that many duplicated genes can retain redundant functions for more than 80 million years of evolution. (biomedcentral.com)
  • If changes in the activity of one gene affect the loss-of-function phenotype of a second gene, then these two genes are said to interact genetically. (biomedcentral.com)
  • Thus, although analyzing the loss-of-function phenotypes of all genes in a wild-type animal is a major advance, an understanding of how each phenotype is modulated by the activities of other genes will prove to be just as critical. (biomedcentral.com)
  • RNAi knockdown approach can silence gene expression to below 50% of the normal level and our previous work has demonstrated that knockdown of specific genes can achieve gene hypomorphic phenotypes in vivo. (neurodegenerationresearch.eu)
  • It highlights the range of innovations in retinal imaging, genotype-phenotype and structure-function associations, animal models of disease and the multiple treatment strategies that are currently in clinical trial or planned in the near future, which are anticipated to lead to significant changes in the management of patients with MDs. (bmj.com)
  • In light of the severe motor phenotypes and apparent cerebellar abnormalities seen in BFPP patients, we studied the cerebellum of Gpr56 knock-out mice. (jneurosci.org)
  • Gpr56 knock-out mice on a mixed 129/BL6/FvB/BALB/c background were obtained from Genentech and Lexicon Genetics. (jneurosci.org)
  • Homozygous CyP-D knock-out mice display regular phenotype (Basso et al. (mingsheng88.org)
  • 19-25 TMPRSS2 knock-out mice have no phenotype in the absence of infection, 26 indicating that inhibiting TMPRSS2 function might not be associated with substantial unwanted side effects. (rsc.org)
  • CNGA3−/−/Nrl−/− and CNGB3−/−/Nrl−/− mice showed impaired cone function, opsin mislocalization, and cone degeneration similar to that in the single knock-out mice. (cipsm.de)
  • Knock-out mice lacking various aspects of pathways important in Th1 and Tfh development and function were used to demonstrate that T-bet, CD40, CD40L, and MHCII mediated protection from RVFV encephalitis, while IFN- and IL-12 were dispensable. (cdc.gov)
  • Immunohistochemistry and electron microscopy demonstrated alterations in capillary density and morphology in both knockout mouse strains in comparison to the control mice. (uib.no)
  • We generated two mouse strains in which AtmKD was conditionally expressed as the sole Atm species: one in the CNS and one specifically in Purkinje cells. (eur.nl)
  • However, both strains exhibited normal life span and displayed no gross cerebellar histological abnormalities or significant neurological phenotype. (eur.nl)
  • Currently this is done by intercrossing different mutant transgenic mouse strains. (neurodegenerationresearch.eu)
  • We will inject the rAAV into several mouse strains including the normal wild type and mutant transgenic mice that develop ALS phenotype. (neurodegenerationresearch.eu)
  • Virus-specific antibody responses correlated with protection from encephalitis in all mouse strains, suggesting that Tfh-B cell interactions modulate clinical outcome in this model. (cdc.gov)
  • For photoreceptor cells to function continuously, all- trans retinal must be converted back to 11- cis retinal through a series of enzymatic reactions known as the visual cycle ( Figure 1A ). (elifesciences.org)
  • D ) The ATPase activity of purified ABCA4 as a function of all- trans retinal or all- trans retinoic acid in the presence or absence of 0.1 mg/mL 1,2-dioleoyl-sn-glycero-3-phosphoethanolamine (DOPE) and 100 µM ATP. (elifesciences.org)
  • The retinal phenotype and potential cell death pathways were examined by functional, biochemical, and immunohistochemical approaches. (cipsm.de)
  • Tmem53 -/- mice recapitulate the human skeletal phenotypes. (nature.com)
  • In this paper, we discuss the current available information about the role that different phenotypes of macrophages plays after injury and during the remodelling phase in different tissue types, with particular attention to the skeletal muscle. (hindawi.com)
  • DCE-MRI and the perfusion analyses successfully determined microvascular haemodynamic parameters of genetically modified mice and gave results consistent with more invasive methods. (uib.no)
  • This review focuses on recent findings using genetically modified mice (gene knockouts and transgenic 'green acrosome' mice) to study the effects of eliminating acrosomal matrix-associated proteins on sperm structure and function. (nih.gov)
  • Knock-out (KO) mice lacking FMRP were compared with congenic C57BL/6J wild-type (WT) controls. (jneurosci.org)
  • Control mice (C57BL/6J Ola/Hsd strain) or mice lacking either collagen XV (Col15a1−/−) or XVIII (Col18a1−/−) were included in the study. (uib.no)
  • This phenomenon has been modeled in C57BL/6 mice depleted of CD4 T cells prior to infection with DelNSs RVFV (RVFV containing a deletion of NSs), resulting in late-onset encephalitis accompanied by high levels of viral RNA in the brain in 30% of animals. (cdc.gov)
  • The viral epitopes targeted by CD4 and CD8 T cells were defined in C57BL/6 mice, and tetramers for both CD4 and CD8 T cells were generated. (cdc.gov)
  • They are characterised by bilateral, relatively symmetrical macular abnormalities that significantly impair central visual function. (bmj.com)
  • This research indicates the ability of the CatWalk XT to sensitively and objectively assess gait abnormalities in Ndufs4-/- mice. (noldus.com)
  • We conclude that although WISP3 is dispensable in mice, male mice with a Wisp3GFP-Cre allele (Jackson Laboratory stock # 017685) will be useful for studying early prophase of meiosis I and for efficiently recombining floxed alleles that are passed to offspring. (harvard.edu)
  • A recurring problem in the clinic is that many detectable changes within the BRCA1 gene produce subtle alterations to the protein that are not easily recognized as either harmful (loss-of-function) alleles or harmless and thus inconsequential polymorphisms. (jci.org)
  • In this issue of the JCI , Chang, Sharan, and colleagues describe a novel system to evaluate human BRCA1 alleles for in vivo function using BACs containing human BRCA1 vectors in mouse cells and embryos (see the related article beginning on page 3160). (jci.org)
  • Therefore we are using the Ndufs4 knockout (Ndufs4-/-) mouse model which is a model for Leigh Syndrome and develops, similarly to the clinical situation, a fatal progressive neurodegenerative disease phenotype. (noldus.com)
  • Here, we show that the modular transcriptional signature in the blood of susceptible mice infected with a clinical isolate of M. tuberculosis resembles that of active human TB disease, with dominance of a type I interferon response and neutrophil activation and recruitment, together with a loss in B lymphocyte, natural killer and T cell effector responses. (imperial.ac.uk)
  • Although early studies of IGSF1 ran into roadblocks and blind alleys, armed with the results of detailed clinical investigations, powerful mouse models, and new reagents, the field is now poised to discover IGSF1's function in endocrine tissues, including the pituitary and testes. (medscape.com)
  • At the third postnatal week, when PrP expression would normally attain mature levels, PrP0/0 mice showed low performance in the accelerating rotarod and runway tests and the functioning of 40% of granule cells was abnormal. (amrita.edu)
  • We used histological, molecular, and behavioral approaches to characterize the defects caused by loss of GPR56 and also examined the potential cellular functions of this molecule in vitro and in vivo . (jneurosci.org)
  • In vivo , the identification of macrophage phenotype is complicated since macrophages are obviously exposed to a microenvironment that is more complex respect to cell culture conditions, and they display characteristics that do not conform to the in vitro defined phenotypic categories. (hindawi.com)
  • Therefore, in the last years characterization of macrophage phenotype in vivo during tissue repair has been a matter of active investigation. (hindawi.com)
  • The use of genetically engineered mouse models has yielded new mechanistic information that complements recent, important in vivo imaging studies. (nih.gov)
  • This strategy should provide new avenues for clinicians to interpret results of genetic testing of BRCA1 variants and for researchers to study the basic molecular mechanisms of BRCA1 function in in vivo model systems. (jci.org)
  • If successful, this experiment will establish a new mouse model for ALS and a new method that is faster than the conventional gene knockout approach for construction of mouse models for ALS and for studying mutant gene interactions in vivo. (neurodegenerationresearch.eu)
  • As cones comprise only 2-3% of the total photoreceptor population in the wild-type mouse retina, we generated mouse lines with CNG channel deficiency on a cone-dominant background, i.e. (cipsm.de)
  • Investigations in two IGSF1 knockout mouse models converged to show that IGSF1 deficiency leads to reduced expression of the receptor for thyrotropin-releasing hormone (TRH) and impaired TRH stimulation of thyrotropin secretion, providing a candidate mechanism for the central hypothyroidism observed in patients. (medscape.com)
  • Analyses of the molecular pathophysiology using the primary cells from the Tmem53 -/- mice and the TMEM53 knock-out cell lines indicates that TMEM53 inhibits BMP signaling in osteoblast lineage cells by blocking cytoplasm-nucleus translocation of BMP2-activated Smad proteins. (nature.com)
  • By systematically studying cellular and synaptic properties of layer 4 neurons combined with cellular and network simulations, we explored how the array of phenotypes in Fmr1-knockout (KO) mice produce circuit pathology during development. (yale.edu)
  • We show that many of the cellular and synaptic pathologies in Fmr1-KO mice are antagonistic, mitigating circuit dysfunction, and hence may be compensatory to the primary pathology. (yale.edu)
  • We will determine whether this approach can induce ALS phenotypes in the wild type mice and/or modulate the disease phenotypes and pathology in the mutant ALS transgenic mice. (neurodegenerationresearch.eu)
  • In Atm-knockout (Atm-KO) mice, complete loss of Atm leads to a very mild neurological phenotype, suggesting that Atm loss is not sufficient to markedly abrogate cerebellar structure and function in this organism. (eur.nl)
  • Overexpression of 11beta-HSD-1 in mouse adipose tissue leads to a metabolic syndrome-like phenotype including increased central obesity, hypertension, impaired glucose tolerance, and hypertriglyceridemia. (genengnews.com)
  • Mice deficient in granulocyte-macrophage colony stimulating factor (GM-CSF) develop pulmonary alveolar proteinosis (PAP). (wiley.com)
  • Low AKR1B10 expression induced M2 macrophage polarization and promoted the malignant phenotype of GC. (portlandpress.com)
  • Perturbations of macrophage function and/or activation may result in impaired regeneration and fibrosis deposition as described in several chronic pathological diseases. (hindawi.com)
  • However, at least two distinct macrophage populations have been identified: the classically activated M1 phenotype and the alternative activated M2 phenotype [ 6 ]. (hindawi.com)
  • It has been suggested that targeting the sigma-1 receptor along with other receptors could increase neuron survival and function in neurodegenerative disease. (wikipedia.org)
  • In paper №1, I detail the neurodegenerative and behavioural outcomes in a mouse lesion model of PD, which can be used as a platform for the development of novel therapeutic strategies. (lu.se)
  • The association of plasma metabolites with IMPC phenotypes showed dramatic sexual dimorphism in wildtype mice . (bvsalud.org)
  • By using blockers of PKA and CaMKII and a Caveolin-3-knockout mouse model, we conclude that the β2AR-LTCC regulation requires the presence of caveolin-3 and the activation of the CaMKII pathway. (imperial.ac.uk)
  • A variety of specific physiological functions have been attributed to the σ1 receptor. (wikipedia.org)
  • Because mitochondrial diseases are heterogeneous and multisystem disorders, it is important to investigate interactions at multiple levels (molecules, cells, organs and physiological functions). (noldus.com)
  • B ) Histological cross section through an adult mouse testis depicting seminiferous tubules, the peritubular myoid cells, and the interstitium (space between tubules). (jci.org)
  • Gpr56 −/− mice display a severe malformation of the rostral cerebellum that develops perinatally. (jneurosci.org)
  • Greater pressure needs to be exerted on genome stability to obtain a mouse model that recapitulates the severe A-T neurological phenotype. (eur.nl)
  • Here, we found that poly-PR overexpression triggers severe DNA damage in cultured cells, primary cortical neurons, and the motor cortex of a poly-PR transgenic mouse model. (qxmd.com)
  • BSEP is the major canalicular bile acid pump, and thus the loss of BSEP function results in severe hepatocellular cholestasis. (medscape.com)
  • This interaction leads to permutations of neutrophil function and could permit immunopathologic changes, severe disease, and opportunistic infections. (cdc.gov)
  • The disease phenotype is characterized by an impaired response to IFN-γ, leading to severe viral disease and mycobacteriosis [Dupuis et al. (lu.se)
  • Heterozygous and homozygous knockin mice were fertile and indistinguishable from their wild-type littermates, confirming that mice lacking Wisp3 have no phenotype. (harvard.edu)
  • However, while females carrying a systemic Rlim knockout (KO) die around implantation, male Rlim KO mice appear healthy and are fertile. (umass.edu)
  • Autophagy is a broad homeostatic, metabolic, cytoplasmic quality control, and metabolic process affecting many functions in the cell. (wikipedia.org)
  • To accomplish this mission, the ACNC has the following objectives and as appropriate, others as mutually agreed upon: A. Determine how maternal/parental diet, exercise, and metabolic health associate with psychological/behavioral, neurologic and physiological function and development in children. (usda.gov)
  • The plan shall be divided into the following areas: A. Determine how dietary components, dietary patterns, and metabolic health influence psychological-behavioral outcomes, neurodevelopment, and physiological function in children. (usda.gov)
  • Children will be studied longitudinally and cross-sectionally to evaluate the effects of child/parental diet, metabolic health, and body composition on psychological-behavioral, neurologic and physiological function. (usda.gov)
  • Its pathophysiology involves protein phosphorylation, one of the most recognizable post-transcriptional modifications, that can take part in many cellular functions and control different metabolic processes. (qxmd.com)
  • The pathogenic condition has various phenotypes, including fulminant infectious mononucleosis, dysgammaglobulinemia and malignant B cell lymphomas [Purtilo et al. (lu.se)
  • In this study we developed a functional assay using mouse ES cells to study variants of BRCA1. (jci.org)
  • T cell receptor (TCR) aß knockouts were used to determine the functional importance of aß-expressing T cells. (cdc.gov)
  • Aged mice (≥24 months) demonstrated a functional BPH/BOO phenotype, compared with adult animals (2-12 months), with low, delayed voiding responses and elevated intravesical pressures as measured by telemetric cystometry. (lu.se)
  • Marked genotype differences were noted between Ndufs4-/- and wild type mice in dynamic, static, coordination, and support parameters 7 . (noldus.com)
  • Specifically walking speed variation, intensity of the individual limbs, number of patterns, and diagonal and lateral support were significantly affected in Ndufs4-/- compared to wild type mice. (noldus.com)
  • Fmr1 KO mice exhibit hyperactivity in open field tests, heightened seizure susceptibility, exaggerated responses to sensory stimulation, normal fear conditioning, and mild impairments in spatial learning tasks ( Kooy, 2003 ). (jneurosci.org)
  • The selenoproteome contains 25 members in humans that exhibit a wide variety of functions. (mdpi.com)
  • Recently we also found that Rpl22 knockout mice exhibit an MDS-like phenotype associated with anemia and abnormal bone marrow BM hematopoiesis. (dtic.mil)
  • Mice homozygous for a knock-out allele exhibit exophthalmos, tremors and collapse of the thyroid gland, and develop a dilated cardiomyopathy with large thrombi due to depression of the cardiac function. (jax.org)
  • Consistently, further studies show that Hat1 -/- MEFs exhibit mitochondrial defects suggesting a critical role for Hat1 in mitochondrial function. (nih.gov)
  • His work covers various topics, including B cell responses to viral infection and vaccination, human primary immunodeficiency, and biology of lymphocyte development and function and to elucidate etiology of immunological disorders. (stanford.edu)
  • Although mouse infection models have been extensively used to study the host response to Mycobacterium tuberculosis, their validity in revealing determinants of human tuberculosis (TB) resistance and disease progression has been heavily debated. (imperial.ac.uk)
  • RVFV-specific CD8 T cells were expanded and of a cytotoxic and proliferating phenotype in the liver following infection. (cdc.gov)
  • RVFV-specific CD4 T cells were identified in the liver and spleen following infection and phenotyped as largely Th1 or Tfh subtypes. (cdc.gov)
  • Consistent with what we observed in our mouse model, our collaborator found that Rpl22 was mutated or deleted in some MDS and AML patients. (dtic.mil)
  • The phenotypes observed are consistent with those in the previous reports, and the observed mutation types and distribution further confirm distinct patterns for variants in NRL causing recessive and dominant diseases. (molvis.org)
  • Defects observed in Hat1 +/- mice are consistent with an early-onset aging phenotype. (nih.gov)
  • One of the most direct approaches to elucidating the role of any particular gene is to characterize its loss-of-function phenotype. (biomedcentral.com)
  • The X-linked gene Rlim plays major roles in female mouse development and reproduction, where it is crucial for the maintenance of imprinted X chromosome inactivation in extraembryonic tissues of embryos. (umass.edu)
  • 2012). Furthermore to its function in pore starting, CyP-D has been proven to catalyze folding of recently brought in proteins in the matrix of mitochondria (Matouschek et al. (mingsheng88.org)
  • In an animal model of PFIC3, Abcb4 (Mdr2) knockout mice cannot excrete phospholipid into bile and develop progressive liver disease characterized by portal inflammation, proliferation of bile ducts, and fibrosis. (medscape.com)
  • However, the conventional transgenic technologies of gene overexpression and knockout are slow and expensive, thus becoming a bottleneck constraining new model development. (neurodegenerationresearch.eu)
  • On the other hand, Li and colleagues ( 2002 ) found that synaptic potentials recorded in layer IV/V of frontal neocortex in response to white matter stimulation showed greatly diminished LTP in Fmr1 KO mice. (jneurosci.org)
  • We find that LTP of monosynaptic responses evoked by selective stimulation of excitatory associational fibers is substantially reduced in slices of anterior piriform cortex (APC) from Fmr1 KO mice, compared with wild-type (WT) controls. (jneurosci.org)
  • This developmental loss of layer 4 sensory encoding precision would contribute to subsequent developmental alterations in layer 4-to-layer 2/3 connectivity and plasticity observed in Fmr1-KO mice, and circuit dysfunction underlying sensory hypersensitivity. (yale.edu)
  • Here, we discover a previously unknown type of SBD in four independent families caused by bi-allelic loss-of-function pathogenic variants in TMEM53 , which encodes a nuclear envelope transmembrane protein. (nature.com)
  • Pathogenic variants in the patients impair the TMEM53-mediated blocking effect, thus leading to overactivated BMP signaling that promotes bone formation and contributes to the SBD phenotype. (nature.com)
  • MicroRNAs not only participate in determining DCs phenotype and then naive T lymphocyte differentiation, but also participate in the regulation of airway inflammation and airway remodeling in asthma. (cdc.gov)
  • Although the role of abnormal prion protein (PrP) conformation in generating infectious brain diseases (transmissible spongiform encephalopathy) has been recognized, the function of PrP in the normal brain remains mostly unknown. (amrita.edu)
  • Synaptic function and plasticity were studied in mice lacking the fragile X mental retardation protein (FMRP), a model for the fragile X mental retardation syndrome. (jneurosci.org)
  • Previously I have determined that Rpl22 functions as a haploinsufficient tumor suppressor in a mouse T-cell lymphoma model by activating NFB and its target Lin28B 3. (dtic.mil)
  • Therapeutic effects of KH176 on gait were evaluated in the Ndufs4-/- mice model 4 . (noldus.com)
  • To understand the broader biological role of Hat1, we have generated a conditional mouse knockout model of this enzyme. (nih.gov)
  • In order to recognize the molecular and protein changes of DKD kidney, this study applied Tandem liquid chromatography-mass spectrometry (LC-MS/MS) and Next-Generation Sequencing, along with Tandem Mass Tags (TMT) labeling techniques to evaluate the mRNA, protein and modified phosphorylation sites between DKD mice and model ones. (qxmd.com)
  • However, this is difficult to model in mice because loss of one TBK1 allele in mice does not cause an overt phenotype but a complete knockout of this gene causes embryonic lethality. (neurodegenerationresearch.eu)
  • Thus, the aged male mouse is a suitable model for BPH-induced BOO and cinaciguat has a demonstrated ability to reduce prostate-induced obstruction and consequent effects on bladder function. (lu.se)
  • In paper №2, I describe how mesDA neurons transplanted in the adult SN of a PD mouse model, extended axons across millimetres into the striatum, functionally reforming the nigrostriatal pathway. (lu.se)
  • and Obesity and its Effects on Cellular and Physiologic Function in mothers, infants and children. (usda.gov)
  • 2012). The Function of CyP-D in Pore Starting The systems of connections of CyP-D using a focus on proteins(s) in the IMM as well as the induction of conformational adjustments of the mark protein to create the mPTP complicated remain unrevealed. (mingsheng88.org)
  • To confirm that Wisp3 knockout mice have no phenotype and to identify potential sites of endogenous Wisp3 expression, we generated mice with a knockin allele (Wisp3GFP-Cre) designed to express Green Fluorescent Protein (GFP) and Cre-recombinase instead of WISP3. (harvard.edu)
  • In addition, the expression of Hat1 is linked to the normal aging process as Hat1 mRNA and protein becomes undetectable in many tissues in old mice. (nih.gov)
  • The mechanism whereby the loss of FIC1 activity results in defective bile salts excretion is unknown, but it has been hypothesized that a mutation in this protein causes phospholipid membrane instability leading to reduced function of bile acid transporters. (medscape.com)
  • In PFIC3, a mutation in the gene ABCB4 on chromosome 7q21 encodes the protein MDR3, which functions in the translocation of phosphatidylcholine across the canalicular membrane. (medscape.com)
  • Shortly after its discovery in 1998, the protein was proposed to function as a coreceptor for inhibins (and was even temporarily renamed inhibin binding protein). (medscape.com)
  • [ 9 ] Interrupted aortic arch is the first cardiovascular pattern formation anomaly to be demonstrated to have a genetic basis in both mouse and human. (medscape.com)
  • The tensin family member cten (C-terminal tensin like) is an Src homology 2 (SH2) and phosphotyrosine binding domain-containing focal adhesion molecule that may function as a tumor suppressor. (rupress.org)
  • Targeting the conditional Rlim cKO specifically to the spermatogenic cell lineage largely recapitulates this phenotype. (umass.edu)
  • Postsynaptic responses to patterned burst stimulation in KO mice showing impaired LTP were not significantly different from those in WT mice, suggesting that the LTP deficit was not caused by alterations in circuit properties. (jneurosci.org)
  • In fact, Cys203 residue of Cyp-D offers been shown to play a crucial part in oxidative stress induced activation of mPTP in mouse embryonic fibroblasts (Nguyen et al. (mingsheng88.org)
  • Hat1 +/- mouse embryonic fibroblasts (MEFs) display modest increases in endogenous DNA damage but have significantly higher levels of reactive oxygen species (ROS). (nih.gov)
  • Ultimately, unravelling how a molecular system without NETO2 gives rise to fear behaviour in mice may lead to a better understanding of fear-related disorders in human and to new therapeutic strategies. (helsinki.fi)
  • Understanding the effect of mouse gene dysfunction on metabolism can inform the functions of their human orthologues. (bvsalud.org)
  • From this point forward, the steps and cell types of spermatogenesis are conserved between mice and humans. (jci.org)
  • The structure, regulation, and cell types of the mouse testis. (jci.org)
  • To gain insight into the mechanism of the LQT phenotype, we conducted whole-cell patch-clamp and immunoblot assays, utilizing both a heterologous expression system and patient-derived induced pluripotent stem cell-cardiomyocytes (iPSC-CMs) with 453delC-KCNH2. (qxmd.com)
  • OBJECTIVE: Because mice repetitively exposed to organic dust extracts (DE) display increased CD3+ T cell lung infiltrates, we sought to determine the phenotype and importance of these cells. (cdc.gov)
  • The loss of ZAP-70 function leads to selective inability to produce CD8+ T lymphocytes and abolishes T cell receptor stimulation in mature CD4+ T lymphocytes [Arpaia, et al. (lu.se)
  • 2018). Upregulation of PRKN appearance or RNAi-mediated downregulation UNC0638 of Green1 amounts suppressed TDP43-induced degenerative phenotype in knockout mice exhibited high degrees of TDP43, underscoring an essential function for PRKN Rabbit Polyclonal to GAK in mediating TDP43 clearance and cytosolic localization (Wenqiang et al. (citiesofdata.org)
  • Mice homozygous for one knock-out allele display increased osteoblast function, bone density, and thickness of the cortical bone in long bones. (jax.org)
  • Mice homozygous for a different knock-out allele are viable and only display gastrulation defects in combination with a Smurf2 knock-out allele. (jax.org)
  • How developmental changes in neuronal function culminate in network dysfunction that underlies sensory hypersensitivities is unknown. (yale.edu)
  • The benefit of cinaciguat was suggested by its reversal of an overactive cystometric profile in CYB5R3 smooth muscle knockout mice that mirrors a profile of oxidative dysfunction where PDE5I may not be effective. (lu.se)
  • We aimed to study the physiological roles of these two components of the permeability barrier non-invasively in striated muscle in mice deficient in collagen XV or XVIII by dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI). (uib.no)
  • Nevertheless, the loss-of-function mechanism underlying this mutation remains unexplored and necessitates an understanding of electrophysiology. (qxmd.com)
  • In mice however, neither absence nor over-expression of WISP3 was found to cause a phenotype, and endogenous Wisp3 expression has been difficult to detect. (harvard.edu)
  • In contrast, 11beta-HSD-1 knockout mice resist visceral obesity and diabetes through improved function of insulin in liver and adipose tissues. (genengnews.com)
  • Resistin was downregulated in the mouse by thiazolidinediones (TZDs), which are agonists for the antidiabetic peroxisome proliferator-activated receptor γ (PPAR-γ), and was proposed to link obesity to diabetes ( 2 ). (diabetesjournals.org)
  • Dietary Factors and Physical Activity Effects on Health, Development and Function of Organ Systems (skeleton, gastrointestinal and hepatic tissues, immune system, cardiovascular, and muscle, e.g. (usda.gov)
  • Retinitis pigmentosa (RP) is a group of inherited disorders of the retina that are characterized initially by the loss of rod photoreceptor function followed by cone photoreceptors. (molvis.org)
  • Deficient Spermiogenesis in Mice Lacking Rlim" by Feng Wang, Maria Gracia Gervasi et al. (umass.edu)
  • and Rando, Oliver J., "Deficient Spermiogenesis in Mice Lacking Rlim" (2021). (umass.edu)
  • In all, this gives us an unprecedented level of insight into eukaryotic gene function. (biomedcentral.com)