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Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.
Nunes-Santos CJ, Kuehn H, Boast B, Hwang S, Kuhns DB, Stoddard J, Niemela JE, Fink DL, Pittaluga S, Abu-Asab M, Davies JS, Barr VA, Kawai T, Delmonte OM, Bosticardo M, Garofalo M, Carneiro-Sampaio M, Somech R, Gharagozlou M, Parvaneh N, Samelson LE, Fleisher TA, Puel A, Notarangelo LD, Boisson B, Casanova JL, Derfalvi B, Rosenzweig SD. Nunes-Santos CJ, et al. Among authors: derfalvi b. Nat Commun. 2023 Jun 22;14(1):3708. doi: 10.1038/s41467-023-39272-0. Nat Commun. 2023. PMID: 37349293 Free PMC article.
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.
Neven B, Callebaut I, Prieur AM, Feldmann J, Bodemer C, Lepore L, Derfalvi B, Benjaponpitak S, Vesely R, Sauvain MJ, Oertle S, Allen R, Morgan G, Borkhardt A, Hill C, Gardner-Medwin J, Fischer A, de Saint Basile G. Neven B, et al. Among authors: derfalvi b. Blood. 2004 Apr 1;103(7):2809-15. doi: 10.1182/blood-2003-07-2531. Epub 2003 Nov 20. Blood. 2004. PMID: 14630794 Free article.
The Human Phenotype Ontology in 2024: phenotypes around the world.
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Og… See abstract for full author list ➔ Gargano MA, et al. Among authors: derfalvi b. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
Immunological effects and safety of live rotavirus vaccination after antenatal exposure to immunomodulatory biologic agents: a prospective cohort study from the Canadian Immunization Research Network.
Fitzpatrick T, Alsager K, Sadarangani M, Pham-Huy A, Murguía-Favela L, Morris SK, Seow CH, Piché-Renaud PP, Jadavji T, Vanderkooi OG, Top KA, Constantinescu C; Special Immunization Clinic Network investigators. Fitzpatrick T, et al. Lancet Child Adolesc Health. 2023 Sep;7(9):648-656. doi: 10.1016/S2352-4642(23)00136-0. Epub 2023 Jun 27. Lancet Child Adolesc Health. 2023. PMID: 37390832
Physician vaccination practices in mild to moderate inborn errors of immunity and retrospective review of vaccine completeness in IEI: results from the Canadian Immunization Research Network.
Suresh S, Zafack J, Pham-Huy A, Derfalvi B, Sadarangani M, McConnell A, Tapiéro B, Halperin SA, De Serres G, M Pernica J, Top KA. Suresh S, et al. Among authors: derfalvi b. Allergy Asthma Clin Immunol. 2022 Apr 9;18(1):32. doi: 10.1186/s13223-022-00667-1. Allergy Asthma Clin Immunol. 2022. PMID: 35397595 Free PMC article.
Modulation of the cell membrane lipid milieu by peroxisomal β-oxidation induces Rho1 signaling to trigger inflammatory responses.
Nath AS, Parsons BD, Makdissi S, Chilvers RL, Mu Y, Weaver CM, Euodia I, Fitze KA, Long J, Scur M, Mackenzie DP, Makrigiannis AP, Pichaud N, Boudreau LH, Simmonds AJ, Webber CA, Derfalvi B, Hammon Y, Rachubinski RA, Di Cara F. Nath AS, et al. Among authors: derfalvi b. Cell Rep. 2022 Mar 1;38(9):110433. doi: 10.1016/j.celrep.2022.110433. Cell Rep. 2022. PMID: 35235794 Free article.
42 results