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Article

Dysregulated alveolar epithelial cell progenitor function and identity in Hermansky-Pudlak syndrome.

JCI insight - 19 Dec 2024

Wang Joanna Y, Michki Sylvia N, Sitaraman Sneha, Banaschewski Brandon J, Jamal Reshma, Gokey Jason J, Lin Susan M, Katzen Jeremy B, Basil Maria C, Cantu Edward, Kropski Jonathan A, Zepp Jarod A, Frank David B, Young Lisa R

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is a genetic disorder of endosomal protein trafficking associated with pulmonary fibrosis in specific subtypes, including HPS-1 and HPS-2. Single-mutant HPS1 and HPS2 mice display increased fibrotic sensitivity while double-mutant HPS1/2 mice exhibit spontaneous fibrosis with aging, which has been attributed to HPS mutations in alveolar epithelial type II (AT2) cells. We utilized...

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Identifiers

PMID: 39699958
DOI: 10.1172/jci.insight.183483
PMCID: PMC11948584

Genes

HPS1

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