多组学在先天性巨结肠中的应用及研究进展OA北大核心CSTPCD
Applications and research advances of multi-omics for Hirschsprung's disease
先天性巨结肠(Hirschsprung's disease,HSCR)是由环境、遗传等多因素导致的疾病,手术是其主要治疗手段,其基本病理改变为不同长度的远端肠管神经节缺如.目前已有大量关于HSCR在基因组学、转录组学、蛋白质组学等方面的研究报道,多组学在HSCR的筛查、诊断以及发病机制探索中发挥了重要作用.本文就多组学技术在HSCR中的应用与研究进展进行综述.
Hirschsprung's disease(HSCR)is a disease caused by both environmental and genetic fac-tors.And surgical intervention has remained a major treatment.Its basic pathological changes include an ab-sence of distal intestinal ganglia of varying lengths,abdominal distension and constipation.Currently a large number of studies have been devoted to HSCR in genomics,transcriptomics,proteomics and other multi-omics.Multi-omic has played an important role in the screening,diagnosis and pathogenesis of HSCR.This review fo-cused upon the latest applications and researches of multi-omics technology for HSCR.
向路苹;付豪;刘远梅
遵义医科大学附属医院贵州省儿童医院小儿外科,遵义 563000
先天性巨结肠基因组学转录组学蛋白质组学外科手术儿童
Hirschsprung DiseaseGenomicsTranscriptomicsProteomicsSurgical Procedures,OperativeChild
《临床小儿外科杂志》 2024 (005)
434-439 / 6
国家自然科学基金(82060100) National Natural Science Foundation of China(82060100)
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