loss-of-function – Page 2 – Communicable Diseases Research

TNF-α synergises with IFN-γ to induce caspase-8-JAK1/2-STAT1-dependent death of intestinal epithelial cells

Article

Published on 2021-09-232022-10-04
Journal: Cell Death & Disease [Category] 신약개발,

[키워드] Activation anti-TNF Apoptosis autoinflammatory disease biochemical biopsy canonical CASP8 caspase caspase-8 cell death Cell death and immune response contribute Critical Crohn's disease Crohn’s disease cytokine death dependence driven by driver epithelial Ex vivo feature Genetic Gut Host IBD IEC IFN-γ immunopathology independent induce Inflammatory bowel disease inhibitor interferons intestinal epithelial cell Intestinal Organoids involved JAK inhibitor kill killing kinase loss-of-function mechanisms MLKL mucosal necroptosis Organoid pathway required retained sustained synergistic T cells therapeutic efficacy TNF-α TNFR1 Tumour-necrosis factors ZBP1
[DOI] 10.1038/s41419-021-04151-3 PMC 바로가기 [Article Type] Article

Loss-of-function mutations in IFNAR2 in COVID-19 severe infection susceptibility

COVID-19 중증 감염 감수성에서 IFNAR2의 기능 상실 돌연변이

Article

Published on 2021-09-012022-09-11
Journal: Journal of global antimicrobial resistance [Category] SARS, 변종, 유전자 메커니즘,

[키워드] allelic Analysis carrier carriers categories category coronavirus disease Coronavirus disease 2019 COVID-19 COVID-19 cohort COVID-19 Host Genetics Initiative COVID-19 infection enrichment Frequency Genes hospitalised patient Hospitalised patients host genetics IFN IFN pathway IFNAR IFNAR2 Immunity initiative involved LOF loss-of-function loss-of-function mutation MAF missense variant Mutation nonsynonymous variants oxygen Patient performed phase 3 study rare variant Rare variants receiving recent Regulation reported Sequencing Severe COVID-19 Infection Severe infection supplemental oxygen support susceptibility Therapeutics type I type III interferon variant Viral genetics Viral resistance whole-genome sequencing
[DOI] 10.1016/j.jgar.2021.06.005 PMC 바로가기 [Article Type] Article

Integrative approach identifies SLC6A20 and CXCR6 as putative causal genes for the COVID-19 GWAS signal in the 3p21.31 locus

통합 접근 방식은 SLC6A20 및 CXCR6을 3p21.31 유전자좌에서 COVID-19 GWAS 신호에 대한 추정 인과 유전자로 식별합니다.

Short Report

Published on 2021-08-232022-09-11
Journal: Genome Biology [Category] MERS, 변종,

[키워드] approach association cell type cell types COVID-19 COVID-19 severity CRISPR CXCR6 eQTL eQTLs Genetic genetic association GWAS highlight human biology identify locus loss-of-function modulate risk robust SARS-CoV-2 SLC6A20 supplementary material tissue tissues
[DOI] 10.1186/s13059-021-02454-4 PMC 바로가기 [Article Type] Short Report

Association of rare predicted loss-of-function variants of influenza-related type I IFN genes with critical COVID-19 pneumonia. Reply

심각한 COVID-19 폐렴과 인플루엔자 관련 I형 IFN 유전자의 드물게 예측된 기능 상실 변이체의 연관성. 회신하다

Comment

Published on 2021-08-022022-09-11
Journal: The Journal of Clinical Investigation [Category] SARS, 변종,

[키워드] Abstract COVID-19 Critical disease Genetic variation Infectious disease loss-of-function Pneumonia predicted Reply Type I IFN variant
[DOI] 10.1172/JCI152475 PMC 바로가기 [Article Type] Comment

Association of rare predicted loss-of-function variants of influenza-related type I IFN genes with critical COVID-19 pneumonia

심각한 COVID-19 폐렴과 인플루엔자 관련 I형 IFN 유전자의 드물게 예측되는 기능 상실 변이체의 연관성

Comment

Published on 2021-08-022022-09-11
Journal: The Journal of Clinical Investigation [Category] SARS, 변종,

[키워드] Abstract COVID-19 Critical disease Genetic variation Infectious disease loss-of-function Pneumonia predicted Type I IFN variant
[DOI] 10.1172/JCI152474 PMC 바로가기 [Article Type] Comment

Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19

심한 Covid-19를 가진 젊고 이전에 건강한 남성의 TLR7 변이체에 대한 유전자 스크리닝

Clinical Trial

Published on 2021-07-232022-08-13
Journal: Frontiers in Immunology [Category] MERS, SARS, 변종, 유전자 메커니즘, 임상, 진단,

[키워드] absence age blood cell Blood cells coding region Comorbidities Comorbidity COVID-19 database deficiency Deleterious determine Diagnosis Genetic genetic screening High-flow nasal oxygen host genetics imiquimod immunodeficiency in silico interferon interferon response IQR loss-of-function male median age men Mild missense variant oxygen Patient pre-symptomatic predicted predictors predisposition prospectively studied rare variant rationale reported required Result Risk factors SARS-CoV-2 Screening sequenced severe COVID-19 Stimulation Support the median the patient therapeutic interventions TLR7 treat Treatment type I underlie variant variants
[DOI] 10.3389/fimmu.2021.719115 PMC 바로가기 [Article Type] Clinical Trial

Do monogenic inborn errors of immunity cause susceptibility to severe COVID-19?

면역의 단일 유전자 선천적 오류가 심각한 COVID-19에 대한 감수성을 유발합니까?

Comment

Published on 2021-07-152022-09-11
Journal: The Journal of Clinical Investigation [Category] SARS, 변종, 진단,

Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19

I형 IFN 면역 유전자의 드문 기능 상실 변이체는 심각한 COVID-19와 관련이 없습니다

Article

Published on 2021-07-152022-09-11
Journal: The Journal of Clinical Investigation [Category] SARS, 변종,

Human neutralizing antibodies against SARS-CoV-2 require intact Fc effector functions for optimal therapeutic protection

SARS-CoV-2에 대한 인간 중화 항체는 최적의 치료 보호를 위해 온전한 Fc 효과기 기능을 필요로 합니다

Article

Published on 2021-04-012022-09-11
Journal: Cell [Category] MERS, SARS, 변종, 유전자 메커니즘, 진단,

[키워드] Administered antibody benefit caused CD8 CD8+ CD8+ T cells Cell clinical trials COVID-19 pandemic Depletion disease effector function function hamster hamsters Human human monoclonal antibodies Human monoclonal antibody IMPROVE in vivo Infection Inflammation innate immune loss-of-function lung Lung disease Lung infection lung; mAb mAbs mechanism of action mice mitigate monocyte Monocytes mouse model Neutralizing Neutralizing antibodies neutralizing antibody Pathogenesis phenotype preserved Prophylaxis reduce required respiratory Respiratory mechanics RNA RNA sequencing SARS-CoV-2 Signaling T cell T cells therapeutic therapy tissue repair transcriptional variant Virological
[DOI] 10.1016/j.cell.2021.02.026 PMC 바로가기 [Article Type] Article

Rare variants increase the risk of severe COVID-19

희귀 변종은 심각한 COVID-19의 위험을 증가시킵니다

Comment

Published on 2021-03-232022-09-10
Journal: eLife [Category] SARS, 변종,

[키워드] COVID-19 form Human LASSO Logistic Regression Analysis loss-of-function medical history men risk severe COVID-19 severe forms of COVID-19 TLR7 TLR7 gene variant
[DOI] 10.7554/eLife.67860 PMC 바로가기 [Article Type] Comment