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1.
Frontiers of Medicine ; (4): 305-317, 2020.
Article in English | WPRIM | ID: wpr-827863

ABSTRACT

Familial acne inversa (AI) is an autoinflammatory disorder that affects hair follicles and is caused by loss-of-function mutations in γ-secretase component genes. We and other researchers showed that nicastrin (NCSTN) is the most frequently mutated gene in familial AI. In this study, we generated a keratin 5-Cre-driven epidermis-specific Ncstn conditional knockout mutant in mice. We determined that this mutant recapitulated the major phenotypes of AI, including hyperkeratosis of hair follicles and inflammation. In Ncstn;K5-Cre mice, the IL-36a expression level markedly increased starting from postnatal day 0 (P0), and this increase occurred much earlier than those of TNF-α, IL-23A, IL-1β, and TLR4. RNA-Seq analysis indicated that Sprr2d, a member of the small proline-rich protein 2 family, in the skin tissues of the Ncstn;K5-Cre mice was also upregulated on P0. Quantitative reverse-transcription polymerase chain reaction showed that other Sprr2 genes had a similar expression pattern. Our findings suggested that IL-36a might be a key inflammatory cytokine in the pathophysiology of AI and involved in the malfunction of the skin barrier in the pathogenesis of AI.

2.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 121-124, 2008.
Article in Chinese | WPRIM | ID: wpr-737188

ABSTRACT

For a preliminary study of the role of β-catenin/Tcf signaling in squamous differentiation of airway (tracheobronchial) epithelial cells, a stable mutant of β-catenin was transfected into primarily cultured porcine airway epithelial cells. Western blotting revealed that exogenous protein was observed in large quantity in cytoplasm and nucleus. When co-transfected with Tcf luciferase reporter plasmids, β-catenin mutant increased the reporter's transcriptional activities. However, mRNA ex pression of a squamous differentiation marker, small proline-rich protein (SPRP), was not elevated, as shown by reverse transcription-polymerase chain reaction. These findings suggest that β-catenin/Tcf signaling may not be directly involved in the squamous differentiation of porcine airway epithelial cells.

3.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 121-124, 2008.
Article in Chinese | WPRIM | ID: wpr-735720

ABSTRACT

For a preliminary study of the role of β-catenin/Tcf signaling in squamous differentiation of airway (tracheobronchial) epithelial cells, a stable mutant of β-catenin was transfected into primarily cultured porcine airway epithelial cells. Western blotting revealed that exogenous protein was observed in large quantity in cytoplasm and nucleus. When co-transfected with Tcf luciferase reporter plasmids, β-catenin mutant increased the reporter's transcriptional activities. However, mRNA ex pression of a squamous differentiation marker, small proline-rich protein (SPRP), was not elevated, as shown by reverse transcription-polymerase chain reaction. These findings suggest that β-catenin/Tcf signaling may not be directly involved in the squamous differentiation of porcine airway epithelial cells.

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