Zebrafish slc30a10 deficiency revealed a novel compensatory mechanism of Atp2c1 in maintaining manganese homeostasisZebrafish slc30a10 결핍은 망간 항상성을 유지하는 Atp2c1의 새로운 보상 메커니즘을 밝혀냈습니다Research Article Published on 2017-07-102022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] absence accompanied accumulated activating adulthood approach ATP2C1 ATPase Author Brain can be used characterized cirrhosis cirrhosis) clinically CRISPR deficiency degenerative degenerative diseases develop disease Disease model disorder dysregulation dystonia early-onset EDTA effective Embryo embryonic ENCODE expressing expression fibrosis form HeLa cells hepatic injury homeostasis Impaired impaired function implicated inhibit iron liver Liver fibrosis manganese manganism mechanism metabolic disorder metabolism modulating mutant mutant embryo mutant embryos mutants Mutation neurological Neurological deficit neurological deficits neurological impairment pharmacological phenotype physiological polycythemia recent reduce rescued secretory pathway Signaling significantly higher SLC30A10 specific treatment steatosis therapy underlie wild-type zebrafish [DOI] 10.1371/journal.pgen.1006892 PMC 바로가기 [Article Type] Research Article
Rapid one-step construction of a Middle East Respiratory Syndrome (MERS-CoV) infectious clone system by homologous recombinationArticle Published on 2016-07-252022-11-01 Journal: Journal of virological methods [Category] Coronavirus, [키워드] Affect Animal host Antiviral compounds approach assays clone completion complex coronavirus coronavirus detection diagnostic tests facilitate Factor Future genetics Genome Homologous recombination immunological detection Infectious clone system MERS-CoV methodology Middle East Middle East respiratory syndrome molecular Molecular cloning more difficult phenotypically similar platform Poliovirus profile Rapid Recombination replicative rescued respiratory Result reverse genetics RNA genome robust RT-PCR S. cerevisiae Vaccine vaccine production variety viral genome viral pathogen virus virus virus detection virus genomes [DOI] 10.1016/j.jviromet.2016.07.022 PMC 바로가기 [Article Type] Article
A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia열불안정성 알돌라제 A 돌연변이는 용혈성 빈혈 없이 발열로 인한 재발성 횡문근 융해증을 유발합니다Research Article Published on 2014-11-132022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] accumulated affected ALDOA Aldolase arginine arginine supplementation betaine cause chaperones Cytokines deficiency Deleterious Dexamethasone droplet erythrocytes Exacerbation expand febrile glycerol hemolytic hemolytic anemia high temperature homozygous mutation illnesses in vitro Lipid lipid droplets mechanism myoblast myoblasts Myoglobinuria Myopathy Patient Protein Recurrent reduced reported rescued rhabdomyolysis severe disease thermolability tissue specific Treatment triggered was increased [DOI] 10.1371/journal.pgen.1004711 PMC 바로가기 [Article Type] Research Article
The Nuclear Immune Receptor RPS4 Is Required for RRS1 SLH1 -Dependent Constitutive Defense Activation in Arabidopsis thaliana핵 면역 수용체 RPS4는 Arabidopsis thaliana에서 RRS1 SLH1 -의존적 구성 방어 활성화에 필요합니다Research Article Published on 2014-10-232022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] absence activate Activation Agrobacterium allele Amino acid analysis Arabidopsis Arabidopsis thaliana Bacterial C-terminal Cell complex conducted Defense disease DNA binding domain dominant downstream effector effectors ENCODE function Genes Genetic genetic screen growth hypotheses identify Immune receptor immune receptors immune responses Immunity inactive insertion leucine loss-of-function mutation loss-of-function mutations mammalian mechanism motif mutant mutants Mutation NLR NLRs nuclear nucleotide overlap pathogen performed plant plants Protein Pseudomona Pseudomonas R genes receptor Recognition recognize required rescued responses RRS1 secretion Signaling significantly temperature transcribed transcriptional transcriptional activation transcriptional change Trigger triggers type III wild type [DOI] 10.1371/journal.pgen.1004655 PMC 바로가기 [Article Type] Research Article
Beclin 1 Is Required for Neuron Viability and Regulates Endosome Pathways via the UVRAG-VPS34 ComplexBeclin 1은 뉴런 생존에 필요하고 UVRAG-VPS34 복합체를 통해 엔도솜 경로를 조절합니다Research Article Published on 2014-10-022022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] activity addition animal model assembly autophagosome autophagy Beclin 1 Brain cause cell line cellular characterized Complete complex complexes conditions Coordinate deficiency disease Diseases Disruption distribution EEA1 endocytosis endosome Endosomes Evidence failure function Genetic human disease impair impairment implicated in addition to in vivo Infectious disease Interaction involved leads maintain mammalian maturation membrane molecular mechanism mutant neurodegeneration neurodegenerative Neuron neuronal neurons nucleation organelle overexpressed p40 pathway Pathways phosphatidylinositol phosphatidylinositol 3-kinase physiological PI3K Previous studies previous study Protein recent recruit recruitment regulate Regulation required rescued reveal RUBICON survival tumorigenesis UVRAG viability [DOI] 10.1371/journal.pgen.1004626 PMC 바로가기 [Article Type] Research Article
Molecular Mechanisms of Hypoxic Responses via Unique Roles of Ras1, Cdc24 and Ptp3 in a Human Fungal Pathogen Cryptococcus neoformans인간 곰팡이 병원체 Cryptococcus neoformans에서 Ras1, Cdc24 및 Ptp3의 고유한 역할을 통한 저산소 반응의 분자 메커니즘Research Article Published on 2014-04-242022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] Actin affected Analysis biological processe biological processes C. neoforman C. neoformans CAMP caused Cdc42 central gene chromosome Compound Concentration condition conserved Critical Cryptococcus Cryptococcus neoforman Cryptococcus neoformans cytoskeletal Deletion downstream eight ergosterol eukaryotic cells expression of gene family function fungal genes encoding genetic analysis genotoxic growth growth defect growth retardation GTPase guanine Human human host hypoxia hypoxic hypoxic condition hypoxic conditions indicated inhibit inhibitor involved maintenance molecular mutant not affected nucleotide osmotic oxygen pathogen pathway Pathways phosphatase phosphatases Phosphorylation Protein protein translation Rac1 Rac2 regulate required rescued response Rho GTPase RNA RNA sequencing role sequence similarity single cells strain Strains suggested suppressor These cells Tolerance unique wild-type strain [DOI] 10.1371/journal.pgen.1004292 PMC 바로가기 [Article Type] Research Article
CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with HypomagnesemiaCNNM2 돌연변이는 저마그네슘혈증 환자의 뇌 발달 장애 및 발작을 유발합니다Research Article Published on 2014-04-032022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] accompanied Affect Brain brain development brain malformation brain malformations cation channel cause caused Cell cellular clinical variability CNNM2 Combination cRNA cyclin M2 de novo de novo heterozygous missense mutations demonstrated development Diagnosis disease Effect embryonic explain expressing FIVE gene encoding Genetic genetic cause genetic component genetic disease genetic etiology genetic heterogeneity handling HEK293 cell HEK293 cells heterozygous homeostasis human disease hypomagnesemia identify Impaired IMPROVE in vitro activity increase inheritance injection intellectual disability isoform kidney knockdown loss-of-function Magnesium mammalian Mental mental disability mental retardation Missense mutation mutant mutated Mutation neurodevelopmental impairment neurodevelopmental impairments neurological Neurological diseases occur Pathomechanism Pathomechanisms Patient patients with moderate phenotype Phenotypes physiological Physiology Protein reduced Regulation renal rescued Seizure Seizures shown the disease therapeutic drug Treatment TRPM7 unique wild-type zebrafish [DOI] 10.1371/journal.pgen.1004267 PMC 바로가기 [Article Type] Research Article
Infectious Bronchitis Virus as a Vector for the Expression of Heterologous GenesResearch Article Published on 2013-06-262022-10-28 Journal: PLoS ONE [Category] Coronavirus, MERS, [키워드] analysed assays avian coronavirus bronchitis cells chick compared demonstrated eGFP expressed expressing expression fluorescence microscopy fluorescent Gene generate Genetic genetics Genome Heterologous IBV increase in Infection infectious Infectious Bronchitis Virus intergenic region kidney luciferase activity MOI offer ORF Pathogens Protein recombinant Renilla luciferase replaced replacing reporter reporter gene rescued Respiratory disease stability utilised vaccination Vaccine vector [DOI] 10.1371/journal.pone.0067875 PMC 바로가기 [Article Type] Research Article
IFN-γ protects from lethal IL-17 mediated viral encephalomyelitis independent of neutrophilsResearch Published on 2012-05-292022-10-30 Journal: Journal of Neuroinflammation [Category] Coronavirus, [키워드] affecting Autoimmune blockade CD4 CD4+ T cells Central nervous system clinical consequence CNS compared complex coronavirus cytokine Demyelination detrimental disease downstream effector molecule Encephalomyelitis expression Factor feedback loops GM-CSF IFN-γ IFN-γ IL-17 independent Infected inflammatory condition inflammatory disease Interaction mechanism memory mice morbidity Mortality murine Neurotropic coronavirus neutrophil neutrophil infiltration Neutrophils not express pathogenic positive PROTECT provided recipient reduced reducing relative contribution rescued response Result survival T cell T cells Th1 Th17 Th17 cell tissue damage Transcription transcriptional regulation transfer upregulation virus was used wild-type [DOI] 10.1186/1742-2094-9-104 PMC 바로가기 [Article Type] Research