Accession SAMC3003535
Accession in Other Database GSA-Human: HRS916390
Sample name N12063
Title N12063
Sample type Human sample
Organism Homo sapiens
Description the KRT32 bam file from Whole exome sequencing
Attributes
Isolate not collected
Age
Biomaterial provider SPHSD, Jinan,Shandong,CA
Sex female
Tissue pbmc
Disease
Cell line
Cell subtype
Cell type
Culture collection
Development stage
Disease stage
Ethnicity
Health State
Karyotype
Phenotype
Population
Race
Type
Treatment
Collection date 2018-01-24
Custom attributes
Release date 2023-12-31
BioProject Accession PRJCA018963
Submitter Hong  Liu  (hongyue2519@hotmail.com)
Organization Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Veneorology, Shandong First Medical University & Shandong Academy of Medical Sciences
Submission date 2023-08-16

Sample Data

Resource name Description
GSA-Human (1) -
HRA005276  (Open Access) Pityriasis rubra pilaris (PRP) is an inflammatory papulosquamous dermatosis, characterized by hyperkeratotic follicular papules and erythematous desquamative plaques. The precise pathogenic mechanism underlying PRP remains incompletely understood. Herein, we performed the whole-exome sequencing (WES) on 58 patients with PRP and 364 healthy controls to investigate the genetic basis underlying the PRP. Our findings revealed a significant association between PRP and the Keratin 32 gene (KRT32), which exerts an inhibitory effect on inflammatory signaling pathways by modulating the NF- kappaB signaling pathway and IL-1 signaling axis, forming a complex regulatory network. This finding offers valuable insights into the underlying etiology and pathomechanisms of PRP.
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