{"database":"iProX","file_versions":[],"scores":null,"additional":{"omics_type":["Proteomics"],"submitter":["Qian Jiang"],"species":["Homo Sapiens"],"full_dataset_link":["http://www.iprox.org/page/project.html?id=IPX0018175000"],"submitter_email":["jiangq@mail.ccmu.edu.cn"],"submitter_affiliation":["Capital Center for Children's Health, Capital Medical University, Capital Institute of Pediatrics"],"sample_protocol":[""],"repository":["iProX"],"data_protocol":[""],"additional_accession":[]},"is_claimable":false,"name":"Label-free quantitative proteomics of colon tissue from a Hirschsprung's disease patient carrying a NOS1 frameshift mutation","description":"This study investigates the proteomic consequences of a frameshift mutation in the NOS1 (neuronal nitric oxide synthase) gene in the context of Hirschsprung's disease. Label-free quantitative (LFQ) mass   spectrometry was performed on formalin-fixed paraffin-embedded (FFPE) colon tissue sections from one NOS1-mutant patient (3 technical replicates) and three control individuals. The study comprises two   experimental arms: (1) total proteome profiling of all six samples, and (2) SDS-PAGE gel-band fractionation targeting proteins at ~55 kDa and ~160 kDa (migrating and narrow segments) for the three   control samples. Raw data were acquired on a Thermo Fisher Orbitrap mass spectrometer and searched against the UniProt human reference proteome (UP000005640) using MaxQuant. A total of 2,193 proteins   were quantified after QC filtering. Differential analysis (proDA, limma) identified 67 significantly altered proteins (adj.P<0.05, |log₂FC|>0.5; 25 upregulated, 42 downregulated) in the NOS1 mutant   versus controls. NOS1 protein itself was not detected, consistent with mutation-induced protein instability or degradation. This dataset provides the first proteomic characterization of NOS1   loss-of-function in human colon tissue and complements parallel transcriptomic (RNA-seq, Iso-Seq) and immune profiling (flow cytometry) datasets from the same NOS1 mutation cohort.","dates":{"publication":"Wed Jul 08 00:00:00 GMT+01:00 2026"},"accession":"PXD080715","cross_references":{"TAXONOMY":["9606"]}}