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Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD; Uk10k; Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM. Antony D, et al. Among authors: onoufriadis a. Hum Mutat. 2013 Mar;34(3):462-72. doi: 10.1002/humu.22261. Epub 2013 Feb 11. Hum Mutat. 2013. PMID: 23255504 Free PMC article.
ABE8e adenine base editor precisely and efficiently corrects a recurrent COL7A1 nonsense mutation.
Sheriff A, Guri I, Zebrowska P, Llopis-Hernandez V, Brooks IR, Tekkela S, Subramaniam K, Gebrezgabher R, Naso G, Petrova A, Balon K, Onoufriadis A, Kujawa D, Kotulska M, Newby G, Łaczmański Ł, Liu DR, McGrath JA, Jacków J. Sheriff A, et al. Among authors: onoufriadis a. Sci Rep. 2022 Nov 16;12(1):19643. doi: 10.1038/s41598-022-24184-8. Sci Rep. 2022. PMID: 36385635 Free PMC article.
Homozygous variant in TKFC abolishing triokinase activities is associated with isolated immunodeficiency.
Tremblay-Laganière C, Michaud C, Abourjaili-Bilodeau R, Cabezas A, Canales J, Costas MJ, Ribeiro JM, Leclerc-Blain J, Touzot F, Haddad E, Teira P, Duval M, Onoufriadis A, Meunier B, Cameselle JC, Campeau PM. Tremblay-Laganière C, et al. Among authors: onoufriadis a. J Med Genet. 2024 May 2:jmg-2024-109853. doi: 10.1136/jmg-2024-109853. Online ahead of print. J Med Genet. 2024. PMID: 38697782
Th2 response drives itch in dystrophic epidermolysis bullosa pruriginosa: A case-control study.
Papanikolaou M, Nattkemper L, Benzian-Olsson N, Liu L, Guy A, Lu H, Kadiyirire T, Hou PC, Aala W, Serrano S, Pramanik R, Walters N, Dimitrakopoulou K, Lwin S, Kalfas E, Satoc J, Laddach R, Cozzetto D, Thomas B, Kesidou E, Rashidghamat E, Orchard G, O'Toole EA, Hsu CK, Saqi M, Steinhoff M, Onoufriadis A, Yosipovitch G, Gould H, Mellerio JE, McGrath JA. Papanikolaou M, et al. Among authors: onoufriadis a. J Am Acad Dermatol. 2024 Mar 13:S0190-9622(24)00487-0. doi: 10.1016/j.jaad.2024.01.088. Online ahead of print. J Am Acad Dermatol. 2024. PMID: 38484894 Free article. No abstract available.
Dominant dystrophic epidermolysis bullosa is associated with glycolytically active GATA3+ Th2 cells which may contribute to pruritus in lesional skin.
Aala WJF, Hou PC, Hong YK, Lin YC, Lee YR, Tu WT, Papanikolaou M, Benzian-Olsson N, Onoufriadis A, I-Chen Harn H, Hwang DY, Cheng SM, Lu K, Chen PC, McGrath JA, Hsu CK. Aala WJF, et al. Among authors: onoufriadis a. Br J Dermatol. 2024 Mar 13:ljae110. doi: 10.1093/bjd/ljae110. Online ahead of print. Br J Dermatol. 2024. PMID: 38477474
Profibrotic Subsets of SPP1+ Macrophages and POSTN+ Fibroblasts Contribute to Fibrotic Scarring in Acne Keloidalis.
Hong YK, Hwang DY, Yang CC, Cheng SM, Chen PC, Aala WJ, I-Chen Harn H, Evans ST, Onoufriadis A, Liu SL, Lin YC, Chang YH, Lo TK, Hung KS, Lee YC, Tang MJ, Lu KQ, McGrath JA, Hsu CK. Hong YK, et al. Among authors: onoufriadis a. J Invest Dermatol. 2024 Jan 11:S0022-202X(24)00007-1. doi: 10.1016/j.jid.2023.12.014. Online ahead of print. J Invest Dermatol. 2024. PMID: 38218364
Spatial transcriptomics in human skin research.
Tekkela S, Theocharidis G, McGrath JA, Onoufriadis A. Tekkela S, et al. Among authors: onoufriadis a. Exp Dermatol. 2023 Jun;32(6):731-739. doi: 10.1111/exd.14827. Epub 2023 May 7. Exp Dermatol. 2023. PMID: 37150587 Review.
Loss of RhoE Function in Dermatofibroma Promotes Disorganized Dermal Fibroblast Extracellular Matrix and Increased Integrin Activation.
Endzhievskaya S, Hsu CK, Yang HS, Huang HY, Lin YC, Hong YK, Lee JYW, Onoufriadis A, Takeichi T, Yu-Yun Lee J, Shaw TJ, McGrath JA, Parsons M. Endzhievskaya S, et al. Among authors: onoufriadis a. J Invest Dermatol. 2023 Aug;143(8):1487-1497.e9. doi: 10.1016/j.jid.2023.01.019. Epub 2023 Feb 10. J Invest Dermatol. 2023. PMID: 36774976 Free article.
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