Autophagy-linked plasma and lysosomal membrane protein PLAC8 is a key host factor for SARS-CoV-2 entry into human cellsArticle Published on 2022-11-022022-11-15 Journal: The EMBO Journal [Category] COVID19(2023년), SARS, 진단, [키워드] Affect analyses autophagy Better boost cancer cell cancer cell lines Cell cell type ciliated conducted COVID-19 pathology COVID19 Critical eight endocytosed enterocytes experiment expressed Factor Genetic genetic screen Gut help Host host cell human cell human lung identify impair Infection Interaction lentiviruses loss-of-function lysosomal lysosomal membrane overexpression plac8 plasma Protein regulate respiratory tract SARS-CoV-2 SARS-CoV-2 entry SARS-COV-2 infection SARS-CoV-2 virus SARS-CoV-2 viruses secretory cell single-cell SPNS1 spns1. susceptible viral entry viral infection virions [DOI] 10.15252/embj.2022110727 PMC 바로가기
Mechanistic insights into global suppressors of protein folding defectsArticle Published on 2022-08-292022-11-16 Journal: PLoS Genetics [Category] SARS, 변종, 유전자 메커니즘, [키워드] accelerate aggregation amino acid substitution bacterial toxin caused characterized Combination crystal structure driver Effects ENhance Evolution examined facilitate functional protein in vitro in vivo inactive increase in Isolation loss-of-function loss-of-function mutations mechanism molecular interaction MOST mutants Mutation Neutral observé parameter Phenotypes promote Protein responsible shown stability suppressor suppressor mutation the SARS-CoV-2 thermodynamic while wildtype [DOI] 10.1371/journal.pgen.1010334 PMC 바로가기
Plasma Proteomics of COVID-19–Associated Cardiovascular Complications: Implications for Pathophysiology and TherapeuticsResearch article Published on 2022-05-012022-10-05 Journal: JACC: Basic to Translational Science [Category] 바이오마커, 유전자 메커니즘, [키워드] ADAMTS13 cardiovascular cardiovascular complication Case-control cause Cohort COVID-19 COVID-19 patient COVID-19 patients disease severity dominant driving finding FSTL3 identify Implications Injury loss-of-function marker mechanism Microvascular thrombosis Myocardial myocardial injury pathophysiology performed phenotype plasma proteomics protease Protein proteomics senescence Signaling Stress therapeutic Therapeutics [DOI] 10.1016/j.jacbts.2022.01.013 [Article Type] Research article
Genome-wide CRISPR screens identify GATA6 as a proviral host factor for SARS-CoV-2 via modulation of ACE2게놈 전체의 CRISPR 화면은 ACE2의 변조를 통해 GATA6을 SARS-CoV-2의 프로바이러스 숙주 인자로 식별합니다.Article Published on 2022-04-252022-09-11 Journal: Nature Communications [Category] COVID19(2023년), SARS, 변종, 신약개발, 유전자 메커니즘, 치료제, [키워드] ACE2 Alpha Alpha variant Analysis anti-SARS-CoV-2 Beta biogenesis candidate cellular clathrin clinical sample clinical samples collected Comparative analysis component COVID-19 pathogenesis CRISPR CRISPR screen Critical data-set elevated facilitate Factor GATA6 Health heparan sulfate Host host gene host genes identify infected individuals Infection KREMEN2 list loss-of-function modulation pathway pharmacological phosphatidylglycerol regulate required SARS-CoV-2 SARS-CoV-2 cell SARS-CoV-2 infected individual SARS-CoV-2 infected individuals SARS-COV-2 infection SETDB1 Spread sulfate target therapeutic interventions therapeutic strategy Transcription transcription factor Transport unique variant variants of concern variants of SARS-CoV-2 viral infectivity virus pathogenesis VoC VOCs wild type Zinc [DOI] 10.1038/s41467-022-29896-z PMC 바로가기 [Article Type] Article
Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency증례 보고서: 공통 변수 면역 결핍으로 나타나는 X-연관 SASH3 결핍Case Reports Published on 2022-04-082022-09-11 Journal: Frontiers in Immunology [Category] COVID19(2023년), SARS, 변종, [키워드] age Autoimmune B cell bilateral pneumonia CD4 CD8 cells combined immunodeficiency common common variable immunodeficiency CVID deficiency described diagnosed dysregulation elevated Genetic testing genetics Haemophilus influenzae Haemophilus influenzae type b humans IgG and IgM immune dysregulation Immunity immunodeficiency immunological phenotype Inborn errors inborn errors of immunity Infection infections Influenza influenza infection loss-of-function lymphopenia memory B cells mucosal Mutation naïve T cells Patient patients phenotype polysaccharide primary immunodeficiencies. proliferation Protein reduced reported RNA SARS-CoV-2 SASH3 SASH3 deficiency Signaling Streptococcus pneumoniae survival T cell T cell activation T cells T-cell TCR Vaccine variable variant varicella Varicella zoster virus viral infection viral infections virus X-linked [DOI] 10.3389/fimmu.2022.881206 PMC 바로가기 [Article Type] Case Reports
CircTHBS1 drives gastric cancer progression by increasing INHBA mRNA expression and stability in a ceRNA- and RBP-dependent manner Research Published on 2022-03-252022-10-05 Journal: Cell Death & Disease [Category] 바이오마커, [키워드] activated Analysis applied backbone Beta Cancer cancer progression cancers cells Circular Diagnosis ENhance expression expression pattern facilitated feasible immunoprecipitation in vitro in vivo INHBA inhibin investigated loss-of-function malignancy mechanism mRNA expression mRNA stability oncogenic pathway performed poor prognosis progression promote pull-down Regulatory reporter Research RNA screened significantly increased stability TGF-β Transcriptome Treatment [DOI] 10.1038/s41419-022-04720-0 [Article Type] Research
Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome치명적인 COVID-19 폐렴과 다기관 염증 증후군이 있는 어린이의 유전성 IFNAR1 결핍Case Reports Published on 2022-01-282022-09-10 Journal: Journal of Clinical Immunology [Category] COVID19(2023년), SARS, 변종, 진단, 치료기술, [키워드] autoantibodies autoantibody autosomal recessive candidate gene cause causes Child children contribute COVID-19 COVID-19 pneumonia Critical critical pneumonia Cytokines detect died dysregulation Exome Genetic variant homozygous IFNAR1 IFNAR1 deficiency IFNs Immunity Inborn error inborn errors of immunity (IEI) Inflammatory interferons investigated loss-of-function MIS-C multisystem inflammatory syndrome in children (MIS-C) objective patients Plasma level Plasma levels Pneumonia primary immunodeficiency (PID) raise Result SARS-COV-2 infection Sequencing specific antibodies specific antibody supplementary material syndrome Type I IFN type I IFNs type I interferon type I interferons underlie variant virus was performed [DOI] 10.1007/s10875-022-01215-7 PMC 바로가기 [Article Type] Case Reports
A Case of Autosomal Recessive Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency with Severe COVID-19중증 코로나19를 동반한 상염색체 열성 인터페론 알파/베타 수용체 알파 사슬(IFNAR1) 결핍 1예Case Reports Published on 2022-01-012022-09-11 Journal: Journal of Clinical Immunology [Category] 치료제, [키워드] Admission Antibiotics antiviral immunity Auto-antibodies auto-antibody both lungs chain Computed tomography consolidation coronavirus COVID-19 diagnosed discharged Favipiravir Fever form general condition genetic defects homozygous hospital HRCT hypoxemic IFN IFN-α IFN-α/β IFN-γ IFNAR1 IFNAR1 deficiency IFNs Infectious disease Infectious diseases intensive care interferon interferon gamma Interferon-gamma interferons interferons (IFNs) life-threatening loss-of-function loss-of-function mutation lung involvement Lungs medication Methylprednisolone Mutation Patient pediatric pulse receptor receptors recessive Remdesivir reported SARS-CoV-2 severe COVID-19 severe forms of COVID-19 Side effect signaling pathway signaling pathways subunit Symptom the patient therapy treat [DOI] 10.1007/s10875-021-01166-5 PMC 바로가기 [Article Type] Case Reports
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patientsToll-유사 수용체 7의 희귀 변이는 COVID-19 환자에서 기능 손상 및 사이토카인 매개 신호의 하향 조절을 초래합니다Brief Communication Published on 2021-12-242022-09-10 Journal: Genes and Immunity [Category] COVID19(2023년), MERS, SARS, 변종, 유전자 메커니즘, [키워드] ACOD1 affected antiviral responses Cell Chronic diseases component COVID-19 patient CXCL10 Cytokines decrease downregulation failure functional Genes genetics hypomorphic IFIT2 IFN IFNα IFNγ imiquimod immune responses immunology impairment innate antiviral responses innate immune response innate immune responses interferons loss-of-function male men mononuclear cell mononuclear cells mRNA level mRNA levels Pathogens pathway Patient performed Peripheral blood Peripheral blood mononuclear cells pro-inflammatory cytokine pro-inflammatory cytokines recognize responses responsible RNA sequencing RSAD2 SARS-CoV-2 severe COVID-19 Signaling single-stranded RNA virus Stimulation TLR TLR7 TLRs Toll-like receptor toll-like receptor 7 Toll-like receptors Transcriptome triggering type I upregulation variant variants Variation variety viruses was performed [DOI] 10.1038/s41435-021-00157-1 PMC 바로가기 [Article Type] Brief Communication
Exome sequencing and analysis of 454,787 UK Biobank participantsArticle Published on 2021-10-182022-10-04 Journal: Nature [Category] 바이오마커, 유전자 메커니즘, [키워드] African Analysis Asian association associations Asthma Brain Cancer coding Cohort consequence Deleterious diabete disease European Exome exome sequencing FAM234A GBE1 gene function Genetics research Genome Genome-wide association studies GWAS Human genetics hypertension identify independent individual involved Liver disease loci loss-of-function MAP3K15 Missense participant Phenotypes phenotypic PLD1 protein-coding gene Rare variants Sequencing Sequencing analysis SLC27A3 SLC9A3R2 tested traits UK biobank underlie variant variants Variation [DOI] 10.1038/s41586-021-04103-z PMC 바로가기 [Article Type] Article