Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa구조적 변이체는 우성 색소성 망막염에서 새로운 위상 관련 도메인 및 이소성 망막 인핸서-유전자 접촉을 생성합니다Article Published on 2020-10-052022-08-07 Journal: American Journal of Human Genetics [Category] 유전자 메커니즘, [키워드] adRP affected Altered binding site blindness breakpoint Cell characterized Chr17q22 complex Contact Control creation differential expression disease domain dominant dominant retinitis pigmentosa ectopic ectopic expression enhancer enhancers Epigenetic Families fibroblast fibroblasts Gain of function GDPD GDPD1 Genome sequencing genomic genomic region genotyping Hi-C highlight increased expression individual individuals investigated leads LINC01476 locus loss of vision mechanism Mendelian diseases modeling Molecular diagnosis New photoreceptor photoreceptor precursors cells pluripotent stem cell PPCs precursor qPCR resulting Retinal retinal enhancer retinal expression retinal organoid retinal organoids retinal-specific enhancer Retinitis retinitis pigmentosa RNA RP17 stem cells Structural variant structural variants SVs topologically associated domains transcription factors vision was performed whole-genome sequencing YPEL2 [DOI] 10.1016/j.ajhg.2020.09.002 PMC 바로가기 [Article Type] Article
Mice with humanized-lungs and immune system – an idealized model for COVID-19 and other respiratory illnessEditorial Published on 2020-05-202022-10-28 Journal: Virulence [Category] COVID-19, MERS, [키워드] acute respiratory syndrome agency animal model Candidates coronavirus COVID-19 COVID-19 pandemic disease etiological agent humanized immune system lung mice pluripotent stem cell public health Regulation Respiratory illness respiratory infectious diseases responsible SARS-CoV-2 therapeutic [DOI] 10.1080/21505594.2020.1763637 PMC 바로가기 [Article Type] Editorial