Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin ( ACTG2 ) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome평활근 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
The [ PSI + ] Prion Exists as a Dynamic Cloud of Variants[ PSI + ] Prion은 다양한 변종 클라우드로 존재합니다.Research Article Published on 2013-01-312022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] allele alleles amyloid appear array Author Cell clones cloud conditions conformation different dominant dynamic effective Efficiency Evidence explain expressing growth infectious isolate mitotic growth MOST passage Phenotypes Polymer polymorph prion progeny Protein protein sequence PSI related Saccharomyces cerevisiae segregation sequence Spectrum Spread strain Structure structures subunit Sup35p Support three group three groups translation Transmissibility Transmission transmission efficiency transmission pattern variant variants yeast [DOI] 10.1371/journal.pgen.1003257 PMC 바로가기 [Article Type] Research Article
Mutational Spectrum Drives the Rise of Mutator Bacteria돌연변이 스펙트럼은 돌연변이 박테리아의 증가를 주도합니다Research Article Published on 2013-01-102022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] a major affecting allele alleles Alter analyzed Antibiotic resistance Antibiotic therapy approach Author Bacteria Bacterial changes characteristic clinical settings Computer simulation consequence current determinant determine different distribution drive Effect Escherichia coli Evolution Factor Frequency generate high mutation rates hitchhiking increase indicate knowledge Laboratory magnitude molecular Mutation Mutation rates mutational bia mutational spectrum mutations natural Population populations reduce Spectrum strain Strains understanding wild-type [DOI] 10.1371/journal.pgen.1003167 PMC 바로가기 [Article Type] Research Article
The Three Faces of Riboviral Spontaneous Mutation: Spectrum, Mode of Genome Replication, and Mutation Rate리보바이러스 자연 돌연변이의 세 가지 측면: 스펙트럼, 게놈 복제 모드 및 돌연변이 비율Research Article Published on 2012-07-262022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] ameliorated Analysis animals antiviral drugs Author average bacteriophage bacteriophages base substitution base substitutions characterization concerning detected disease Diseases DNA replication Escherichia coli exceptional face Frequency gene encoding generate genome replication growth Host hypermutation in vivo indels infecting Infection information investigated isolates iterative linear linear mode magnitude mammalian mode Mutagenesis mutant Mutation mutation rate mutational spectrum mutations pathogen Pathogens phage plants Plasmid Population produced Protein public health Rate reduce relative frequencies relative frequency Replication reported reporter resistance mutations RNA Sequencing analysis Signaling Spectrum Spontaneous spontaneous mutation subject these viruses trans transversion urgency viral disease virus viruses was used [DOI] 10.1371/journal.pgen.1002832 PMC 바로가기 [Article Type] Research Article