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The British Journal of Dermatology|March 4, 2026
Targeting non-canonical NF-κB signalling in CYLD cutaneous syndrome by selective inhibition of IκB kinase alphaKirsty Hodgson, Joseph Inns, Gary Reynolds, et al.European Journal of Human Genetics : EJHG|July 31, 2024
ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndromeMarianne Geilswijk, Maurizio Genuardi, Emma R Woodward, et al.Oncotarget|January 24, 2022
Seventh BHD international symposium: recent scientific and clinical advancementMark R Woodford, Avgi Andreou, Masaya Baba, et al.Science (New York, N.Y.)|July 20, 2022
ZAKα-driven ribotoxic stress response activates the human NLRP1 inflammasomeKim S Robinson, Gee Ann Toh, Pritisha Rozario, et al.The Journal of Investigative Dermatology|December 25, 2022
PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to MelanomaSatyamaanasa Polubothu, Nicole Bender, Siobhan Muthiah, et al.NPJ Biofilms and Microbiomes|January 12, 2025
Life stage impact on the human skin ecosystem: lipids and the microbial communityMartin P Pagac, Bala Davient, Luca Antonio Plado, et al.EMBO Molecular Medicine|February 13, 2025
Portimine A toxin causes skin inflammation through ZAKα-dependent NLRP1 inflammasome activationLéana Gorse, Loïc Plessis, Stephen Wearne, et al.Brain : a Journal of Neurology|March 19, 2020
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosisCarol Dobson-Stone, Marianne Hallupp, Hamideh Shahheydari, et al.Science (New York, N.Y.)|January 22, 2021
Developmental cell programs are co-opted in inflammatory skin diseaseGary Reynolds, Peter Vegh, James Fletcher, et al.Nature|February 26, 2025
Rare disease gene association discovery in the 100,000 Genomes ProjectValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.Pageof 9