loss-of-function – Page 3 – Communicable Diseases Research

Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study

남성에서 생명을 위협하는 COVID-19 질병과 Toll 유사 수용체 7 변이의 연관성: 중첩 사례 대조 연구의 결과

Short Report

Published on 2021-03-022022-09-10
Journal: eLife [Category] SARS, 변종, 유전자 메커니즘,

Transcriptome-wide transmission disequilibrium analysis identifies novel risk genes for autism spectrum disorder

Transcriptome-wide transmission disequilibrium analysis는 자폐 스펙트럼 장애에 대한 새로운 위험 유전자를 식별합니다

Research Article

Published on 2021-02-042022-09-06
Journal: PLoS Genetics [Category] Communicable Disease,

[키워드] affected Analysis annotation applied ASD association autism autism spectrum Brain complex connection de novo mutation developmental disease disorder ENCODE exome sequencing studies expressed Gene Expression gene mapping Genes genetic etiology Genetic variant Genetic variation Genetic variations Genome-wide association studies Genome-wide association study GWAS human population identify implicated independent information loss-of-function Mutation offspring outcomes parent parents pathway POU3F2 protein-coding gene protein-coding genes rare mutations rare variant Rare variants recent regulated Regulatory replicated risk significance level statistical framework target transcription factor transcriptome-wide Transmission variant variants
[DOI] 10.1371/journal.pgen.1009309 PMC 바로가기 [Article Type] Research Article

Severe SARS-CoV-2 disease in the context of a NF-κB2 loss-of-function pathogenic variant

NF-κB2 기능 상실 병원성 변이체의 맥락에서 심각한 SARS-CoV-2 질병

Case Reports

Published on 2021-02-012022-09-11
Journal: The Journal of Allergy and Clinical Immunology [Category] MERS, SARS, 변종, 진단, 치료제,

[키워드] acute respiratory distress acute respiratory distress syndrome acute respiratory syndrome acute respiratory syndrome coronavirus Affect affecting among others appear B-cell biologic biologic therapies cardiovascular system Central nervous system Clinical management combined immunodeficiency common variable immunodeficiency Complication coronavirus coronavirus disease Coronavirus disease 2019 COVID-19 disease dysregulation evaluated functional Gain gain-of-function gastrointestinal tract global pandemic heterozygous variant heterozygous variants Hospitalization Host Host immune response hyperinflammatory responses immune immune dysfunction immune dysregulation immunodeficiency Infection intrinsic kidney loss of function loss-of-function Lungs male management mechanical ventilation memory B cells NF-κB NF-κB pathway NF-κB2 NFKB2 Novel coronavirus nuclear organ systems outcome pathogenic variant Patient patients with SARS-CoV-2 phenotype reported required respiratory respiratory distress Respiratory distress syndrome risk factor SARS-CoV-2 SARS-CoV-2 disease SARS-COV-2 infection severe acute respiratory syndrome Coronavirus severe acute respiratory syndrome coronavirus 2 severity of COVID-19 skin susceptible Symptom symptomatic SARS-CoV-2 infection syndrome therapy treat variant virus
[DOI] 10.1016/j.jaci.2020.09.020 PMC 바로가기 [Article Type] Case Reports

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

생명을 위협하는 COVID-19 환자에서 I형 IFN 면역의 선천적 오류

Research Article

Published on 2020-10-232022-08-13
Journal: Science (New York, N.y.) [Category] MERS, SARS, 유전자 메커니즘,

[키워드] a minor acute respiratory syndrome acute respiratory syndrome coronavirus acute respiratory syndrome coronavirus 2 administration Affect affecting age amplification amplification pathway Asymptomatic autoantibodies autoantibody autoantibody system autosomal-dominant autosomal-recessive Beck biochemically BOLD candidate gene approach caused cellular clinical Clinical course Clinical outcome clinical variability complete penetrance complex component components core gene core genes coronavirus coronavirus disease Coronavirus disease 2019 Course COVID COVID Human Genetic Effort COVID-19 COVID-19 patient COVID-19 pneumonia Critical Critical disease cytokine Cytokines damage dampen deficiencies deficiency defined Deleterious dendritic cell dendritic cells determine Diseases double-stranded RNA eight enrichment epidemiological studies Exome fibroblast fibroblasts Genes genes encoding genetic defect genetic defects genetics Genome genomics study had milder phenotype healthy individuals highest Hospitalized Human human fibroblasts with mutations Hypothesis identify IFN IFN response IFN-α2 IFNAR1 IFNAR1 deficiency IFNAR2 IFNs IKBKG immune system Immunity immunological in healthy individuals in some in vitro Inborn error Inborn errors incomplete penetrance individual induction pathway Infection infection with SARS-CoV-2 Infectious diseases Influenza influenza pneumonia Influenza virus inheritance interferon interferon regulatory factor interferon regulatory factor 7 interferons interferons (IFNs) involved IRF3 IRF7 IRF9 lack life-threatening likelihood loci LOF loss-of-function male mechanism Medical conditions minor minor allele frequency molecular molecule molecules monogenic inborn error monogenic inborn errors mutated Mutation NEMO NEMO/IKBKG Neutralizing nonsynonymous variant other variants outcome pathogen pathogen-induced inflammation pathway Patient patients Perspective plasmacytoid dendritic cells pLOF Pneumonia predicted Prevent produced rare variant Rare variants Regulation respiratory reveal risk risk factor SARS-CoV-2 SARS-COV-2 infection SARS-CoV-2 infection in vitro Science selected sequenced severe acute respiratory syndrome Coronavirus severe acute respiratory syndrome coronavirus 2 severe coronavirus disease severe COVID-19 Severe COVID-19 pneumonia severe disease Severe infection silent infection Stat1 STAT2 subject susceptible TBK1 tested Therapeutic benefit this system TICAM1 TICAM1/TRIF tissue TLR3 Toll-like receptor Toll-like receptor 3 TRAF3 TRIF Type type I Type I IFN type I IFNs type I interferon UNC93B1 underlie variant variants Viral Viral illness viral illnesses
[DOI] 10.1126/science.abd4570 PMC 바로가기 [Article Type] Research Article

Presence of Genetic Variants Among Young Men With Severe COVID-19

Case Reports

Published on 2020-08-182022-10-04
Journal: JAMA [Category] MERS, 변종,

[키워드] acute respiratory syndrome affected age Analysis Blood carried case sery caused Cell chronic disease Control controls coronavirus coronavirus disease COVID-19 criteria died downregulated downstream experiments exposure Final finding Follow-up functional Genetic Genetic variant hospital ICU identify IFN IFN-γ IFNB1 immune defects immunodeficiency immunological Immunological test Importance individual intensive care interferon interferon signaling IRF7 ISG15 loss-of-function male measure mechanical ventilation Medical conditions men missense variant mononuclear cell mRNA expression Netherland Netherlands objective occur one patient participant pathogenesis of COVID-19 Patient patients patients hospitalized patients with COVID-19 performed Peripheral blood Point preliminary finding Presence primary immune cell Rapid Relevance responses Result SARS-CoV-2 setting severe coronavirus disease severe COVID-19 Severe infection Signaling significantly the mean the patient TLR7 transcriptionally type I type I interferon type II IFN variant ventilatory support whole-exome sequencing
[DOI] 10.1001/jama.2020.13719 PMC 바로가기 [Article Type] Case Reports

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

Mitochondrial Amidoxime Reducing Component 1 유전자의 missense 변이와 간 질환에 대한 보호

Research Article

Published on 2020-04-132022-09-06
Journal: PLoS Genetics [Category] Communicable Disease,

Genetic determinants of genus-level glycan diversity in a bacterial protein glycosylation system

박테리아 단백질 글리코실화 시스템에서 속 수준 글리칸 다양성의 유전적 결정인자

Research Article

Published on 2019-12-232022-09-06
Journal: PLoS Genetics [Category] Communicable Disease,

[키워드] acquisition Bacteria Bacterial bacterial pathogen bacterial species bacterial specy biosynthetic biosynthetic pathway biosynthetic pathways Comparative genomics component components conjunction conservation core genome determine driven by effort event Evolution Express expressed functional gene networks Genes Genetic genetic determinant genetic difference genetic interactions genus glycosylation Host Human human disease human pathogen identify independent influence instance instances Interaction involved isolate isolates loss-of-function Neisseria gonorrhoeae Neisseria meningitidis oligosaccharide oligosaccharides Pathogens pathway Pathways Perspective phylogenetically polymorphism post-translational modification Protein Recombination required robust selective status subset sugar sugars unique
[DOI] 10.1371/journal.pgen.1008532 PMC 바로가기 [Article Type] Research Article

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

심실주위 결절성 이형에서 MAP1B의 드 노보 및 유전된 사적 변이체

Research Article

Published on 2018-05-082022-09-06
Journal: PLoS Genetics [Category] Communicable Disease,

[키워드] abnormality affected allele Analysis arising association Author Brain brain development caused chance Collapsing controls cortical de novo de novo mutation de novo mutations detrimental Diseases disorder driven by ENCODE epilepsy Exome exome sequencing expected explain fetal Genetic genetic risk Genetic variant genetic variants genome-wide significant heterozygous variant identify implicated incomplete penetrance indicate individual initial involved leads list of gene loci loss-of-function malformation MAP1B Migration Mutation Neuron neurons nonsynonymous occur one patient parent parents patients performed predominant Protein responsible sequence sequenced Sequencing the disease the patient transmitted variant variants
[DOI] 10.1371/journal.pgen.1007281 PMC 바로가기 [Article Type] Research Article

Cyclic di-AMP regulation of osmotic homeostasis is essential in Group B Streptococcus

삼투성 항상성의 순환 di-AMP 조절은 B군 연쇄상 구균에서 필수적입니다

Research Article

Published on 2018-04-162022-09-06
Journal: PLoS Genetics [Category] Communicable Disease,

[키워드] absence accumulating accumulation assumed Bacteria Bacterial betaine bind binding cellular cellular physiology compensatory mutations conditions conserved Control cyclic dacA Deletion demonstrated dependent on enzyme etiological agent expression function functional glycine glycine betaine group growth homeostasis host cell host cells host-pathogen interactions hyperosmotic identification identify Infection involved leads Loss loss-of-function loss-of-function mutation maintain mechanism medium Meningitis monophosphate mutant Mutation Neonatal nucleotide nucleotides opportunistic pathogen osmolyte osmoregulation osmotic osmotic regulation pathogen pathway phenotype Potassium predominant promoter Protein regulate Regulation second messenger second messengers secondary messenger septicaemia Streptococcus Streptococcus agalactiae susceptibility Transcription transcriptional viability
[DOI] 10.1371/journal.pgen.1007342 PMC 바로가기 [Article Type] Research Article

CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia

CNNM2 돌연변이는 저마그네슘혈증 환자의 뇌 발달 장애 및 발작을 유발합니다

Research 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