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P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO).
Charras A, Hofmann SR, Cox A, Schulze F, Russ S, Northey S, Liu X, Fang Y, Haldenby S, Hartmann H, Bassuk AG, Carvalho A, Sposito F, Grinstein L, Rösen-Wolff A, Meyer-Bahlburg A, Beresford MW, Lainka E, Foell D, Wittkowski H, Girschick HJ, Morbach H, Uebe S, Hüffmeier U, Ferguson PJ, Hedrich CM. Charras A, et al. Among authors: huffmeier u. J Autoimmun. 2024 Apr;144:103183. doi: 10.1016/j.jaut.2024.103183. Epub 2024 Feb 23. J Autoimmun. 2024. PMID: 38401466 Free article.
VEXAS syndrome mimicking lupus-like disease.
Valor-Méndez L, Sticherling M, Zeschick M, Atreya R, Schmidt FD, Waldfahrer F, Saake M, Hüffmeier U, Schett G, Rech J. Valor-Méndez L, et al. Among authors: huffmeier u. Rheumatology (Oxford). 2023 Sep 1;62(9):e271-e272. doi: 10.1093/rheumatology/kead076. Rheumatology (Oxford). 2023. PMID: 36794903 No abstract available.
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.
Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, Maraval J, Bruel AL, Them FTM, Haack TB, Grasshoff U, Horber V, Schot R, van Slegtenhorst M, Wilke M, Barakat TS. Albuainain F, et al. Among authors: huffmeier u. Eur J Hum Genet. 2024 Mar;32(3):350-356. doi: 10.1038/s41431-023-01530-6. Epub 2024 Jan 10. Eur J Hum Genet. 2024. PMID: 38200082 Free PMC article.
GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.
Dand N, Stuart PE, Bowes J, Ellinghaus D, Nititham J, Saklatvala JR, Teder-Laving M, Thomas LF, Traks T, Uebe S, Assmann G, Baudry D, Behrens F, Billi AC, Brown MA, Burkhardt H, Capon F, Chung R, Curtis CJ, Duckworth M, Ellinghaus E, FitzGerald O, Gerdes S, Griffiths CEM, Gulliver S, Helliwell P, Ho P, Hoffmann P, Holmen OL, Huang ZM, Hveem K, Jadon D, Köhm M, Kraus C, Lamacchia C, Lee SH, Ma F, Mahil SK, McHugh N, McManus R, Modalsli EH, Nissen MJ, Nöthen M, Oji V, Oksenberg JR, Patrick MT, Perez-White BE, Ramming A, Rech J, Rosen C, Sarkar MK, Schett G, Schmidt B, Tejasvi T, Traupe H, Voorhees JJ, Wacker EM, Warren RB, Wasikowski R, Weidinger S, Wen X, Zhang Z; BSTOP study group; Estonian Biobank research team; Barton A, Chandran V, Esko T, Foerster J, Franke A, Gladman DD, Gudjonsson JE, Gulliver W, Hüffmeier U, Kingo K, Kõks S, Liao W, Løset M, Mägi R, Nair RP, Rahman P, Reis A, Smith CH, Di Meglio P, Barker JN, Tsoi LC, Simpson MA, Elder JT. Dand N, et al. Among authors: huffmeier u. medRxiv [Preprint]. 2023 Oct 5:2023.10.04.23296543. doi: 10.1101/2023.10.04.23296543. medRxiv. 2023. PMID: 37873414 Free PMC article. Preprint.
Dermatological diseases from a genetic perspective.
Betz RC, Hüffmeier U. Betz RC, et al. Among authors: huffmeier u. Med Genet. 2023 Apr 5;35(1):1-2. doi: 10.1515/medgen-2023-2009. eCollection 2023 Apr. Med Genet. 2023. PMID: 38835415 Free PMC article. No abstract available.
Genetic underpinnings of the psoriatic spectrum.
Hüffmeier U, Klima J, Hayatu MD. Hüffmeier U, et al. Med Genet. 2023 Apr 5;35(1):46-54. doi: 10.1515/medgen-2023-2005. eCollection 2023 Apr. Med Genet. 2023. PMID: 38835412 Free PMC article.
Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.
Rieger M, Moutton S, Verheyen S, Steindl K, Popp B, Leheup B, Bonnet C, Oneda B, Rauch A, Reis A, Krumbiegel M, Hüffmeier U. Rieger M, et al. Among authors: huffmeier u. Eur J Med Genet. 2023 Jan;66(1):104669. doi: 10.1016/j.ejmg.2022.104669. Epub 2022 Nov 12. Eur J Med Genet. 2023. PMID: 36379434
81 results