Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations정밀 의학(TOPMed)을 위한 100,000개 이상의 NHLBI Trans-Omics 컨소시엄 전체 게놈 서열의 사용은 아프리카 및 히스패닉/라틴계 혼합 인구 집단에서 전가 품질 및 희귀 변이 연관성 검출 개선Research Article Published on 2019-12-232022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] 1000 Genomes Project addition African allele analysis Analysis Anemia approach association average blood cell complex complex diseases conducted demonstrated European Frequency genetic architecture Genetic studies genetic study genome coverage genome-wide association genome-wide genotyping genome-wide significant Genotype genotype data genotype imputation genotypes Haplotype Reference Consortium HBB HBB gene HCT hematocrit hematological hemoglobin highlight homozygous impair IMPROVE imputation increase in independent individual information Linkage disequilibrium low frequency MAF mapping Medicine minor allele frequency MOST NHLBI phase Population populations power Quantitative rare variant Rare variants reference panel replicated rescued sequence Sequencing sequencing data subsequent traits utility variant variants WBC White blood cell white blood cell count whole genome whole genome sequence Whole genome sequencing [DOI] 10.1371/journal.pgen.1008500 PMC 바로가기 [Article Type] Research Article
High rate of adaptation of mammalian proteins that interact with Plasmodium and related parasitesPlasmodium 및 관련 기생충과 상호 작용하는 포유류 단백질의 높은 적응률Research Article Published on 2017-09-282022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] adaptation adaptive allele ancestor Bacterial infections Blood blood cell caused cell membrane cell protein conserved controls Critical critical organ curated disease domain domains driven by elevated Evidence Evolution expected explained expression Genetic genetic resistance genomes group Host host adaptation host gene host protein host proteins hosts Human genome human populations humans identify illness immune immune function infect Infection Infectious disease Interaction involved lack life cycle liver malaria mammal mammalian mammalian protein mammals many cases matched control matched controls non-immune organ outcome over parasite parasites pathogen Pathogens Plasmodium Plasmodium falciparum Pleiotropy Protein Proteins red blood cell relative representing second selective significantly spectrin Substitution susceptibility terrestrial the strongest title variety Viral [DOI] 10.1371/journal.pgen.1007023 PMC 바로가기 [Article Type] Research Article
Remote Control of Intestinal Stem Cell Activity by Haemocytes in Drosophila초파리의 혈구에 의한 장 줄기 세포 활동의 원격 제어Research Article Published on 2016-05-272022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] activate activated Activation activity Bacterial infection blood cell Blood cells canonical cell proliferation circulating contribute Control Coordinate Critical Defense Drosomycin Drosophila Express expression fat Gut haemocyte haemocytes Host receptors Immunity indicate induce Inflammation Injury Innate Interaction intestinal epithelium intestinal stem cell intestine involved JAK/STAT JAK/STAT pathway JNK pathway lipopolysaccharide liver mammals mode multiple tissues Mutation oral bacterial infection organ Organisms overcome pathway peptidoglycan Previous studies previous study proliferation promote recognize Regulation released remote required reveal secreted molecule secreted protein secreted proteins septic injury signaling pathway STAT STEM stem cell stimulate suggested survival systemic immune response tissue damage tissue repair turn Upd Upd1 Upd2 Upd3 Upds while wound [DOI] 10.1371/journal.pgen.1006089 PMC 바로가기 [Article Type] Research Article
Insight into Genotype-Phenotype Associations through eQTL Mapping in Multiple Cell Types in Health and Immune-Mediated Disease건강 및 면역 매개 질환의 여러 세포 유형에서 eQTL 매핑을 통한 유전자형-표현형 연관성에 대한 통찰력Research Article Published on 2016-03-252022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] Active disease Affect Analysis anti-neutrophil cytoplasmic antibody association Autoimmune Autoimmune diseases blood cell blood vessel blood vessels bowel Cancer cell types cellular cellular activation clinical disease complex complex system contribute cytoplasmic damage database dependent on disease risk disease-associated loci DNA Effect eQTL eQTL analysis eQTL mapping eQTLs estimate examined Examining expression expression data expression quantitative trait loci FIVE Gene Expression Genetic genetic control Genetic studies Genetic variant genetic variants genetics Genome-wide association studies Gut GWAS healthy healthy control healthy controls help Human immune system human inflammatory diseases identifying immune Immune cell immune cell type immune cells immune-mediated diseases in vitro include Infection Inflammation Inflammatory Inflammatory bowel disease inflammatory disease Inflammatory diseases insight investigated joint knowledge leucocyte loci majority mapping Multiple observation Pathogenesis Patient performed proportion PROTECT provide Quantitative regions resulting risk specificity subset subtype tissue tissues Treatment Type variant Vasculitis White blood cell [DOI] 10.1371/journal.pgen.1005908 PMC 바로가기 [Article Type] Research Article
Experimental feline enteric coronavirus infection reveals an aberrant infection pattern and shedding of mutants with impaired infectivity in enterocyte culturesArticle Published on 2016-01-292022-10-29 Journal: Scientific Reports [Category] Coronavirus, MERS, [키워드] abnormality absence affected antibody blood cell CD8 Clinical sign Clinical signs coronavirus Coronavirus infection Culture Feline infectious peritonitis Hypothesis Immune cell immunological infect Infection Infectious virus intestinal investigated less leukocyte Mild mutant mutated Mutation mutations neutralising antibody not different occurred raise regulatory T cells Replication reveal SPF these cell Viraemia viral genome Virological virus virus [DOI] 10.1038/srep20022 PMC 바로가기 [Article Type] Article
Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia글리신과 엽산은 선천적 철모구성 빈혈의 모델을 개선합니다.Research Article Published on 2016-01-282022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] 5-Ala 5-aminolevulinic acid addition Anemia anemic autosomal recessive biosynthetic pathway Blood blood cell Blood Transfusion Cell congenital congenital sideroblastic anemia derivative determine downstream effective exogenous glycine exogenously family member folate glycine glycine cleavage system Hem25 heme heme biosynthetic pathway heme synthesis hemoglobin homolog humans identify inherited anemia inherited anemias iron iron chelation knowledge metabolite Mitochondria mitochondrial mitochondrial glycine importer mitochondrial glycine importers mitochondrial glycine transporter mitochondrial glycine transporters Model molecular Mutation Patient precursors Protein red blood cell red blood cells required restore hemoglobin level restore hemoglobin levels Safe sideroblastic anemia Sideroblastic anemias SLC25 SLC25A38 synthesis the disease Tolerability Treatment Vitamin while yeast yeast cell yeast cells Ymc1 zebrafish [DOI] 10.1371/journal.pgen.1005783 PMC 바로가기 [Article Type] Research Article
Ribosomal Protein Mutations Induce Autophagy through S6 Kinase Inhibition of the Insulin Pathway리보솜 단백질 돌연변이는 인슐린 경로의 S6 키나제 억제를 통해 자가포식을 유도합니다Research Article Published on 2014-05-292022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] a major activated activating Activation affected affecting AKT Anemia antioxidant aplasia autophagy Blood blood cell Blood cells Bone marrow bone marrow failure Catabolism CD34 Cell cellular conserved Critical cytopenia deregulation disease Embryo etiology event example explanation feature Genes growth growth defects Hematopoiesis impair impairment include increase increase in induce inhibit inhibition insulin insulin resistance insulin-signaling pathway involved kinase lead maturation mechanism Mutation observé opens oxygen p53 pathophysiology pathway Pathways Patient patients phenotype Phenotypes Phosphorylation Potential treatment progenitor cell promote provide reactive oxygen species reactive oxygen specy red blood cell red blood cells Red cell red cell aplasia reduce regulated ribosomal protein ribosome ROS RPS19 SDS Shwachman-Diamond syndrome Signaling signaling pathway Treatment triggered Tumor tumor suppressor while zebrafish [DOI] 10.1371/journal.pgen.1004371 PMC 바로가기 [Article Type] Research Article
DNA Methylation Changes Separate Allergic Patients from Healthy Controls and May Reflect Altered CD4 + T-Cell Population StructureDNA 메틸화는 건강한 대조군과 알레르기 환자를 분리하고 변경된 CD4 + T-세포 집단 구조를 반영할 수 있습니다.Research Article Published on 2014-01-022022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] allergen allergic allergic rhinitis allergy alteration Altered approach assumed Author blood cell CD4 cells change changes in compared Control controls different disease DNA DNA methylation Epigenetic epigenomics etiology Evidence explain found Gene Expression gene expression profile Gene expression profiles healthy control healthy controls healthy individual healthy individuals heterogeneity highlight humans Illumina immune in vitro model individuals infectious agent infectious agents Inflammatory diseases life mechanism memory Methylation Microarrays molecular Patient PBMC PBMCs phenotype Population profile proportion proportions psoriasis purified SAR seasonal Seasonal allergic rhinitis Separate separation Stratification Structure subtype Support T cells T-cell T-cells White blood cell [DOI] 10.1371/journal.pgen.1004059 PMC 바로가기 [Article Type] Research Article