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Skin Organoids Derived From NCSTN Mutated Patient-Induced Pluripotent Stem Cells Recapitulate Hidradenitis Suppurativa Pathogenic Hallmarks

research 545 Skin Organoids derived from NCSTN mutated patient-induced pluripotent stem cells recapitulate Hidradenitis Suppurativa pathogenic hallmarks

November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.

Analysis of Hidradenitis Suppurativa-Linked Mutations in Four Genes and the Effects of PSEN1-P242LfsX11 on Cytokine and Chemokine Expression in Macrophages

research Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages

25 citations , December 2018 in “Human Molecular Genetics”

The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.

research 199 Impairment of notch 1 signaling is a common defect in lesions from patients with hidradenitis suppurativa

2 citations , September 2017 in “Journal of Investigative Dermatology”

Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.

research 547 CDK9 Kinase Activation in Association with AFF1-SEC Initiate Epidermal Progenitor differentiation

November 2022 in “Journal of Investigative Dermatology”

NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.

research Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease

41 citations , May 2020 in “Frontiers in immunology”

Hidradenitis suppurativa might be a type of autoinflammatory skin disease.

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Jane Genesi
Marlton, PA, United States

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Jane Genesi