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Inherited desmoplastic trichoepitheliomas.
Lovgren ML, Rajan N, Joss S, Melly L, Porter M. Lovgren ML, et al. Clin Exp Dermatol. 2019 Oct;44(7):e238-e239. doi: 10.1111/ced.13876. Epub 2019 Jan 29. Clin Exp Dermatol. 2019. PMID: 30697781 Free PMC article. No abstract available.
Targeting Tropomyosin Receptor Kinase in Cutaneous CYLD Defective Tumors With Pegcantratinib: The TRAC Randomized Clinical Trial.
Danilenko M, Stamp E, Stocken DD, Husain A, Zangarini M, Cranston A, Stones R, Sinclair N, Hodgson K, Bowett SA, Roblin D, Traversa S, Plummer R, Veal G, Langtry JAA, Ashworth A, Burn J, Rajan N. Danilenko M, et al. JAMA Dermatol. 2018 Aug 1;154(8):913-921. doi: 10.1001/jamadermatol.2018.1610. JAMA Dermatol. 2018. PMID: 29955768 Free PMC article. Clinical Trial.
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.
Dobson-Stone C, Hallupp M, Shahheydari H, Ragagnin AMG, Chatterton Z, Carew-Jones F, Shepherd CE, Stefen H, Paric E, Fath T, Thompson EM, Blumbergs P, Short CL, Field CD, Panegyres PK, Hecker J, Nicholson G, Shaw AD, Fullerton JM, Luty AA, Schofield PR, Brooks WS, Rajan N, Bennett MF, Bahlo M, Landers JE, Piguet O, Hodges JR, Halliday GM, Topp SD, Smith BN, Shaw CE, McCann E, Fifita JA, Williams KL, Atkin JD, Blair IP, Kwok JB. Dobson-Stone C, et al. Brain. 2020 Mar 1;143(3):783-799. doi: 10.1093/brain/awaa039. Brain. 2020. PMID: 32185393 Free PMC article.