Quantitative Proteomics Reveals Association of Neuron Projection Development Genes ARF4, KIF5B, and RAB8A With Hirschsprung Disease.

ABSTRACT: 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 tags for relative and absolute quantification. method followed by bioinformatics analysis. Selected findings were confirmed by parallel reaction monitoring verification. At last, the interesting differentially expressed proteins were confirmed by Western blot. A total of 5341 proteins in human colo

SUBMITTER: Zhang Q 

PROVIDER: S-EPMC7950107 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature