Ontology highlight
ABSTRACT:
ORGANISM(S): Homo Sapiens
SUBMITTER: Ting Zhang
PROVIDER: PXD021292 | iProX | Thu Oct 22 00:00:00 BST 2020
REPOSITORIES: iProX
Zhang Qin Q Wu Lihua L Bai Baoling B Li Dan D Xiao Ping P Li Qi Q Zhang Zhen Z Wang Hui H Li Long L Jiang Qian Q
Molecular & cellular proteomics : MCP 20201208
Hirschsprung disease (HSCR) is a heterogeneous group of neurocristopathy characterized by the absence of the enteric ganglia along a variable length of the intestine. Genetic defects play a major role in the pathogenesis of HSCR, whereas family studies of pathogenic variants in all the known genes (loci) only demonstrate incomplete penetrance and variable expressivity for unknown reasons. Here, we applied large-scale, quantitative proteomics of human colon tissues from 21 patients using isobaric ...[more]