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Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis.
Sirvent S, Vallejo AF, Corden E, Teo Y, Davies J, Clayton K, Seaby EG, Lai C, Ennis S, Alyami R, Douilhet G, Dean LSN, Loxham M, Horswill S, Healy E, Roberts G, Hall NJ, Friedmann PS, Singh H, Bennett CL, Ardern-Jones MR, Polak ME. Sirvent S, et al. Among authors: seaby eg. Nat Commun. 2023 May 19;14(1):2880. doi: 10.1038/s41467-023-38588-1. Nat Commun. 2023. PMID: 37208336 Free PMC article.
Bullous herpes zoster.
Wong KJ, Osowicki J, Seaby E, Curtis N, Gwee A. Wong KJ, et al. J Pediatr. 2014 Mar;164(3):667. doi: 10.1016/j.jpeds.2013.10.026. Epub 2013 Nov 16. J Pediatr. 2014. PMID: 24252791 No abstract available.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Weng PL, Majmundar AJ, Khan K, Lim TY, Shril S, Jin G, Musgrove J, Wang M, Ahram DF, Aggarwal VS, Bier LE, Heinzen EL, Onuchic-Whitford AC, Mann N, Buerger F, Schneider R, Deutsch K, Kitzler TM, Klämbt V, Kolb A, Mao Y, Moufawad El Achkar C, Mitrotti A, Martino J, Beck BB, Altmüller J, Benz MR, Yano S, Mikati MA, Gunduz T, Cope H, Shashi V; Undiagnosed Diseases Network; Trachtman H, Bodria M, Caridi G, Pisani I, Fiaccadori E, AbuMaziad AS, Martinez-Agosto JA, Yadin O, Zuckerman J, Kim A; UCLA Clinical Genomics Center; John-Kroegel U, Tyndall AV, Parboosingh JS, Innes AM, Bierzynska A, Koziell AB, Muorah M, Saleem MA, Hoefele J, Riedhammer KM, Gharavi AG, Jobanputra V, Pierce-Hoffman E, Seaby EG, O'Donnell-Luria A, Rehm HL, Mane S, D'Agati VD, Pollak MR, Ghiggeri GM, Lifton RP, Goldstein DB, Davis EE, Hildebrandt F, Sanna-Cherchi S. Weng PL, et al. Among authors: seaby eg. Am J Hum Genet. 2021 Feb 4;108(2):357-367. doi: 10.1016/j.ajhg.2021.01.008. Epub 2021 Jan 27. Am J Hum Genet. 2021. PMID: 33508234 Free PMC article.
Progressive myoclonic epilepsy with Fanconi syndrome.
Seaby EG, Gilbert RD, Pengelly RJ, Andreoletti G, Clarke A, Ennis S. Seaby EG, et al. JRSM Open. 2016 Jun 6;7(6):2054270415623145. doi: 10.1177/2054270415623145. eCollection 2016 Jun. JRSM Open. 2016. PMID: 27293772 Free PMC article.
NOD2 in Crohn's Disease-Unfinished Business.
Ashton JJ, Seaby EG, Beattie RM, Ennis S. Ashton JJ, et al. Among authors: seaby eg. J Crohns Colitis. 2023 Apr 3;17(3):450-458. doi: 10.1093/ecco-jcc/jjac124. J Crohns Colitis. 2023. PMID: 36006803 Free PMC article.
Response to Ramos et al.
Seaby EG, Baralle D, Rehm HL, O'Donnell-Luria A, Ennis S. Seaby EG, et al. Genet Med. 2022 Dec;24(12):2593-2594. doi: 10.1016/j.gim.2022.08.016. Epub 2022 Sep 19. Genet Med. 2022. PMID: 36121441 Free article. No abstract available.
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