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
Infidelity of SARS-CoV Nsp14-Exonuclease Mutant Virus Replication Is Revealed by Complete Genome SequencingResearch Article Published on 2010-05-062022-10-29 Journal: PLoS Pathogens [Category] Coronavirus, [키워드] accumulate acute respiratory syndrome Author bioinformatics clone compared competent Complete complex consensus genome coronavirus coronavirus exoribonuclease Coronaviruses Critical Culture decrease deep sequencing demonstrated Effect Evolution examined experiment Frequency full-length genome Genetic Genome genome replication genome sequence growth Impact in vitro inactivation increase in Infidelity lack less limit mechanism MOST murine hepatitis virus mutant mutant virus Mutation nonstructural protein nonstructural protein 14 nsp14 nsp14-ExoN Nsps passage Pathogenesis powerful tool quasispecy recognize Replication replication fidelity required resulting Revealed RNA genome RNA genomes RNA virus SARS-coronavirus SARS-CoV sequence stability the Coronaviridae to define total population unique viral growth viral replication viral RNA genome viral system virus wild-type SARS-CoV [DOI] 10.1371/journal.ppat.1000896 PMC 바로가기 [Article Type] Research Article
Genome structure and transcriptional regulation of human coronavirus NL63Research Published on 2004-11-172022-10-28 Journal: Virology Journal [Category] Coronavirus, [키워드] 2003 Analysis Cell culture coding codon usage compared Coronaviral coronavirus detect experimental analysis expression level GC content Genome genome structure HCoV-229E HCoV-NL63 HCoV-OC43 human coronavirus humans increase indicate indicated infect Inspection leader sequence mRNA mRNAs N proteins NL63 Northern blot analysis nucleocapsid nucleotide ORF3 other coronaviruses Pathogenesis pathogenicity performed powerful tool reflected Replication Result RNA genome SARS Coronavirus SARS-CoV sequenced significantly subgenomic mRNA subgenomic mRNAs Transcription transcriptional regulation viral evolution virus [DOI] 10.1186/1743-422X-1-7 PMC 바로가기 [Article Type] Research