Exome – Page 2 – Communicable Diseases Research

Association of Complement and MAPK Activation With SARS-CoV-2–Associated Myocardial Inflammation

SARS-CoV-2–관련 심근 염증과 보체 및 MAPK 활성화의 연관성

Research

Published on 2021-12-152022-09-10
Journal: JAMA Cardiology [Category] MERS, SARS, 유전자 메커니즘,

X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia

X-연관 TLR7 결핍은 운동실조-모세혈관확장증 남성 환자의 심각한 COVID-19 폐렴의 원인이 됩니다

Case Reports

Published on 2021-10-232022-09-10
Journal: Journal of Clinical Immunology [Category] MERS, 변종, 유전자 메커니즘, 치료기술,

[키워드] antibody Antibody deficiency Asymptomatic Ataxia ataxia-telangiectasia ATM autoantibodies autoantibody candidate gene clinical manifestations conditions coronavirus disease Coronavirus disease 2019 COVID-19 COVID-19 immune response COVID-19 pneumonia Critical critical COVID-19 deficiencies deficiency Deleterious Diagnosis disease evaluated exhibit Exome genetic cause genetic defect genetic defects high risk homozygous identify IFNs IgM immune response Immunity Impact inborn errors of immunity individual interferons investigated life-threatening mechanism Mild symptom mild symptoms Mutation neurological signs objective Patient patients evaluated Pneumonia Primary Immunodeficiency radiosensitivity Result SARS-COV-2 infection Sequencing serum levels specific antibodies specific antibody supplementary material syndrome telangiectasia the patient TLR7 TLR7 gene Treatment Type I IFN type I interferon type I interferons underlie understanding unique variant virus was performed were measured
[DOI] 10.1007/s10875-021-01151-y PMC 바로가기 [Article Type] Case Reports

Exome sequencing and analysis of 454,787 UK Biobank participants

Article

Published on 2021-10-182022-10-04
Journal: Nature [Category] 바이오마커, 유전자 메커니즘,

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis

전체 게놈 서열 분석에 의해 세 가지 민족 집단에서 IRD의 유전자 구조 및 민족 지학 분포를 해독합니다.

Research Article

Published on 2021-10-182022-09-06
Journal: PLoS Genetics [Category] Communicable Disease,

[키워드] addition affected alteration American Analysis analyzed Atypical blood sample Blood samples causal variant Clinical diagnosis collected Combined complex consanguinity contributed contributing to disease pathology distribution dominant European examined Exome exome sequencing family member family members followed by GATK gene mutation gene mutations Genes genetic architecture genetic heterogeneity Genome genome analysis genome variant genome variants Genotype gnomAD hg19 identify Illumina individual initial linkage analysis mapped methodology minimum Mutation mutations ophthalmic pathology Patient pedigree phenotype PolyPhen2 Population populations proportion recruited reported responsible Retinal Degeneration sequence Sequencing Seven Spectrum Structural variant structural variants SVs The United States to define United States variant variants was performed WGS whole genome sequence whole-genome sequencing
[DOI] 10.1371/journal.pgen.1009848 PMC 바로가기 [Article Type] Research Article

Fulminant H1N1 and severe acute respiratory syndrome coronavirus-2 infections with a 4-year interval without an identifiable underlying cause: a case report

전격성 H1N1 및 중증급성호흡기증후군 코로나바이러스-2 감염, 4년 간격으로 뚜렷한 근본 원인 없이: 증례 보고

Case Reports

Published on 2021-10-082022-09-10
Journal: Journal of Medical Case Reports [Category] MERS, SARS, 변종, 신종인플루엔자,

[키워드] acute kidney acute respiratory syndrome Admission age Analysis Antiviral asymptomatic infection autoantibody Case report challenge clinical picture clinical recovery Comorbidity contributing to Coronavirus-2 Course COVID-19 demonstrated disease disease-causing enzyme enzyme-linked immunosorbent enzyme-linked immunosorbent assay Exome expression Factor fulminant genetic change Genetic changes genetic defect genetic defects Genetic variant genetic variants H1N1 H1N1 influenza healthy ICU immune immunological impairment indicate Infection infections Influenza intensive care intensive care unit admission interferon Interferon (INF) interferon pathway interferon response interferon-stimulated gene mechanical ventilation mononuclear cell mononuclear cells Pathways Patient Peripheral blood Perturbation reduced respiratory risk factor Risk factors SARS-CoV-2 Sequencing Severe acute respiratory syndrome severe acute respiratory syndrome Coronavirus severity suffered susceptibility the interferon the patient triggered type I Variation Viral viral infection viral infections virus infection
[DOI] 10.1186/s13256-021-03113-9 PMC 바로가기 [Article Type] Case Reports

Stickler syndrome – lessons from a national cohort

Article

Published on 2021-10-052022-10-04
Journal: Eye (London, England) [Category] 변종,

Genetic counseling research and COVID-19: A lesson in resiliency

유전 상담 연구와 코로나19: 회복력에 대한 교훈

Article

Published on 2021-10-012022-09-11
Journal: Journal of genetic counseling [Category] SARS, 유전자 메커니즘,

Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C)

어린이의 다기관 염증 증후군(MIS-C)에 대한 유전적 감수성의 기본 메커니즘

Article

Published on 2021-09-012022-09-11
Journal: The Journal of Allergy and Clinical Immunology [Category] SARS, 바이오마커, 변종, 유전자 메커니즘,

[키워드] acute respiratory syndrome acute respiratory syndrome coronavirus Apoptosis Beta cardiovascular dysfunction characterized children cohort of patient condition coronavirus COVID-19 CYBB cytokine cytokine signaling Deleterious develop Diagnosis differentially expressed gene Differentially expressed genes downstream enrichment enrolled Exome General population Genetic genetic mechanism genetic risk factor genetic susceptibility had no haploinsufficiency healthy children identify IL-18 Immune cell Including Infection Inflammation Inflammatory inflammatory disorder inflammatory disorders inhibitor interferons interquartile range median age Mild MIS-C Multiorgan multisystem inflammatory syndrome in children Next-generation sequencing nuclear obesity occur pathway Pathways Patient PBMC PBMCs pediatric prospective cohort study reported respiratory SARS-CoV-2 Sequencing severe acute respiratory syndrome Coronavirus single-center SOCS1 subunit Support suppressor susceptibility syndrome Transcriptome type I variant was performed was tested whole exome sequencing X-linked XIAP
[DOI] 10.1016/j.jaci.2021.06.024 PMC 바로가기 [Article Type] Article

Host Genetics and Antiviral Immune Responses in Adult Patients With Multisystem Inflammatory Syndrome

다기관 염증 증후군이 있는 성인 환자의 숙주 유전학 및 항바이러스 면역 반응

Immunology

Published on 2021-08-312022-09-11
Journal: Frontiers in Immunology [Category] MERS, SARS, 변종, 진단,

[키워드] affected affecting analyzed antibody autoantibody autophagy characteristic children classical contributing to Coronavirus disease 2019 Course COVID-19 CXCL10 cytokine Cytokines description disease disease-causing DNA ELISA Exome expression Features FIVE Genetic hallmark hallmarks healthy controls IFNα IL-1β IL-6 immune responses immunological in vitro In vitro infection Inflammatory interferon interferon response interferons Kawasaki disease less MIS mononuclear cell mononuclear cells Multiorgan dysfunction Multisystem inflammatory syndrome organ Pathogenesis Patient patients PBMC PBMCs performed Peripheral blood Peripheral blood mononuclear cells Presence Proinflammatory cytokine proinflammatory cytokines reduced response restriction factor SARS-CoV-2 SARS-COV-2 infection Sequencing Sequencing analysis syndrome systemic inflammation TNFα type I type I and III interferons variant WES whole exome sequencing
[DOI] 10.3389/fimmu.2021.718744 PMC 바로가기 [Article Type] Immunology

SELP Asp603Asn and severe thrombosis in COVID-19 males

SELP Asp603Asn 및 COVID-19 남성의 심각한 혈전증

Letter to the Editor

Published on 2021-08-162022-09-10
Journal: Journal of Hematology & Oncology [Category] MERS, SARS, 변종,

[키워드] 95% CI Adhesion Molecule adjusted adjuvant therapy age androgen Androgen receptor Anti-selectin P monoclonal antibodies antibody Cell cell adhesion molecule coding variant Cohort confidence confidence interval COVID-19 D-dimer downregulated etiology Exome GEN-COVID homozygosity homozygote interval Logistic regression male Mortality Odds ratio Older P-selectin rationale receptor repurposing SARS-CoV-2 SELP Sequencing severity stratified by sex subject subjects supplementary material Testosterone the cell therapy Thromboembolism thrombosis thrombotic thrombotic risk Thrombus Venous Thromboembolism
[DOI] 10.1186/s13045-021-01136-9 PMC 바로가기 [Article Type] Letter to the Editor