Missense mutation – Page 5 – Communicable Diseases Research

Synaptogyrin-2 influences replication of Porcine circovirus 2

Synaptogyrin-2는 돼지 써코바이러스 2의 복제에 영향을 미칩니다

Research Article

Published on 2018-10-312022-09-06
Journal: PLoS Genetics
[Category] Communicable Disease,

[키워드] Affect Amino acid Antigen association Author Cas9 Cell chromosome chromosome 7 clone complex conducted conserved CRISPR CRISPR-Cas9 disease disease susceptibility Diseases Dissection DNA virus domain Evidence evidence of ExoN explained expression General health Genetic genetic component genetic test genetic tests genetics Genome-wide association study genomic Genotype group of disease group of diseases growth Health Host host genetics hpi identification illnesses immune response immune system in viral incidence Infection influence involved leukocyte locus mammals Missense mutation Mutation Pathogenesis phenotypic phenotypic variance phenotypic variation PIGS polymorphism Population predict Protein provided proximal end QTL replicate Replication Research responsible RNA-sequencing severity sick single-stranded DNA SNP suggested supernatant susceptibility susceptible SYNGR2 the strongest underlie variant Variation Viral Viral load viral replication viral titer Viremia virus Welfare wildtype
[DOI] 10.1371/journal.pgen.1007750 PMC 바로가기 [Article Type] Research Article

A chromosome 5q31.1 locus associates with tuberculin skin test reactivity in HIV-positive individuals from tuberculosis hyper-endemic regions in east Africa

염색체 5q31.1 유전자좌는 동부 아프리카의 결핵 고 풍토병 지역에서 온 HIV 양성인 개인의 투베르쿨린 피부 검사 반응성과 연관됩니다.

Research Article

Published on 2017-06-192022-09-06
Journal: PLoS Genetics
[Category] Communicable Disease,

[키워드] Active disease Airway inflammation analysis approach association Author bacterium causal variant cause Cell chromosome chromosomes Cohort combined cohort complex cytokine detect determine develop dominant downstream Enrollment Evidence evidence of Genes Genetic genetic loci Genome-wide association study genome-wide significant Haplotype HIV-infection HIV-positive individual HIV-positive individuals identify IL9 Immunological response increase individual individuals infected individuals Infection Infectious disease Inflammation Inflammatory responses loci locus mast cell Mast cells Missense mutation missense variant Mycobacterium Mycobacterium tuberculosis Odds ratio participant Patient performed positive positive individuals power produced Prospective Study reactivity Region replicated risk significantly Skin test skin tests SLC25A48 subpopulation tested TST tuberculin skin test Tuberculosis Uganda uninfected unique variant variants
[DOI] 10.1371/journal.pgen.1006710 PMC 바로가기 [Article Type] Research Article

Microevolution of Candida albicans in Macrophages Restores Filamentation in a Nonfilamentous Mutant

대식세포에서 칸디다 알비칸스의 소진화는 필라멘트가 아닌 돌연변이에서 필라멘트를 복원합니다

Research Article

Published on 2014-12-042022-09-06
Journal: PLoS Genetics
[Category] Communicable Disease,

[키워드] addition Antifungal treatment approach avirulent C. albican C. albicans Candida Candida albican Candida albicans Cdk8 Cell cell wall clinical setting complex component Compound connection drug resistance ENCODE environmental cue environmental cues Evolution example exhibited fungi gene encoding growth hosts hyphae hyphal identify in vivo Incubation induce Infection leads Macrophage macrophages maintain mechanism mediator Mediator complex microbe microevolution microevolutionary microorganism microorganisms Missense mutation murine mutant Mutation nucleotide pathogenic pathogenicity phagocytosis regulatory network responsible selection pressure Signaling signaling pathway single nucleotide strain subject the macrophage phagosome These data took place Transcription transcription factor transcription factors transcription regulation transcriptional transcriptional regulation undergo virulence whole genome yeast
[DOI] 10.1371/journal.pgen.1004824 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

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin ( ACTG2 ) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

평활근 액틴(ACTG2) 유전자의 이형 접합체 및 유전 돌연변이는 거대포낭-소결장-장 연동운동부전 증후군의 기초가 됩니다.

Research Article

Published on 2014-03-272022-09-06
Journal: PLoS Genetics
[Category] Communicable Disease,

[키워드] abdominal surgeries abdominal surgery ACTG2 Actin Actins affected affecting arginine arginine residues bladder catheterization codon Cohort cohort of patient component components contractile protein contractile proteins CpG de novo mutation de novo mutations dependent on described description diagnosed dinucleotide disease disorder DNA ENCODE enteric smooth muscle Families Finnish followed by food gastrointestinal problem gastrointestinal problems Genes heterozygous heterozygous mutation Hypoperistalsis identify initial intestinal intestinal pseudo-obstruction intestine less majority megacystis megacystis-microcolon-intestinal hypoperistalsis syndrome microcolon Missense mutation Missense mutations missense variant MMIHS muscle muscle contractile units muscle disease Muscle function Mutation mutations obstruction organ parenteral nutrition Patient patients phenotype powerful tool provide radiologist remained responsible Sanger sequencing Smooth smooth muscle smooth muscle disease Spectrum subjects syndrome the disease total parenteral nutrition Treatment unique urinary catheterization variant visceral whole-exome sequencing γ2 enteric actin
[DOI] 10.1371/journal.pgen.1004258 PMC 바로가기 [Article Type] Research Article