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ProteomicsComparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice define disease-relevant pathways
Netherton syndrome (NS) is a rare skin disease caused by loss-of-function mutations in the serine peptidase inhibitor Kazal type 5 (SPINK5) gene. Disease severity and the lack of efficacious treatments call for a better understanding of NS mechanisms. Here we describe a viable, Spink5 conditional kn...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2023-02-02 | MSV000091184 | MassIVE
ProteomicsIL-36 is a hallmark of Netherton syndrome with type I IFN, Th2 and Th9 responses distinguishing its dual clinical manifestations
Netherton syndrome (NS) is a rare recessive skin disorder caused by loss-of-function mutations in the gene SPINK5 encoding the protease inhibitor LEKTI. NS patients suffer from a severe skin barrier defect, display inflammatory skin lesions and superficial scaling with atopic manifestations. They ca...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2021-01-18 | MSV000086716 | MassIVE
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