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Page 1
The Role of Host Genetic Factors in Coronavirus Susceptibility: Review of Animal and Systematic Review of Human Literature.
LoPresti M, Beck DB, Duggal P, Cummings DAT, Solomon BD. LoPresti M, et al. Among authors: beck db. medRxiv [Preprint]. 2020 Jun 3:2020.05.30.20117788. doi: 10.1101/2020.05.30.20117788. medRxiv. 2020. Update in: Am J Hum Genet. 2020 Sep 3;107(3):381-402. doi: 10.1016/j.ajhg.2020.08.007 PMID: 32511629 Free PMC article. Updated. Preprint.
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, Balanda N, Ross DL, Ospina Cardona D, Wu Z, Patel B, Manthiram K, Groarke EM, Gutierrez-Rodrigues F, Hoffmann P, Rosenzweig S, Nakabo S, Dillon LW, Hourigan CS, Tsai WL, Gupta S, Carmona-Rivera C, Asmar AJ, Xu L, Oda H, Goodspeed W, Barron KS, Nehrebecky M, Jones A, Laird RS, Deuitch N, Rowczenio D, Rominger E, Wells KV, Lee CR, Wang W, Trick M, Mullikin J, Wigerblad G, Brooks S, Dell'Orso S, Deng Z, Chae JJ, Dulau-Florea A, Malicdan MCV, Novacic D, Colbert RA, Kaplan MJ, Gadina M, Savic S, Lachmann HJ, Abu-Asab M, Solomon BD, Retterer K, Gahl WA, Burgess SM, Aksentijevich I, Young NS, Calvo KR, Werner A, Kastner DL, Grayson PC. Beck DB, et al. N Engl J Med. 2020 Dec 31;383(27):2628-2638. doi: 10.1056/NEJMoa2026834. Epub 2020 Oct 27. N Engl J Med. 2020. PMID: 33108101 Free PMC article.
Somatic mutations in autoinflammatory and autoimmune disease.
Torreggiani S, Castellan FS, Aksentijevich I, Beck DB. Torreggiani S, et al. Among authors: beck db. Nat Rev Rheumatol. 2024 Nov;20(11):683-698. doi: 10.1038/s41584-024-01168-8. Epub 2024 Oct 11. Nat Rev Rheumatol. 2024. PMID: 39394526 Review.
Opportunistic Infections, Mortality Risk, and Prevention Strategies in Patients With Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic (VEXAS) Syndrome.
Czech M, Cuellar-Rodriguez J, Patel BA, Groarke EM, Cowen EW, Turturice B, Beck DB, Wilson L, Goodspeed W, Darden I, Young NS, Hickstein D, Ombrello A, Hoffman P, Arikan EA, Sinaii N, Hathaway L, Castelo-Soccio L, Fike A, Kastner DB, Grayson PC, Ferrada MA. Czech M, et al. Among authors: beck db. Open Forum Infect Dis. 2024 Jul 23;11(7):ofae405. doi: 10.1093/ofid/ofae405. eCollection 2024 Jul. Open Forum Infect Dis. 2024. PMID: 39077052 Free PMC article.
Skin Manifestations of VEXAS Syndrome and Associated Genotypes.
Tan IJ, Ferrada MA, Ahmad S, Fike A, Quinn KA, Groarke EM, Beck DB, Allbritton J, Castelo-Soccio L, Young NS, Patel BA, Grayson PC, Cowen EW. Tan IJ, et al. Among authors: beck db. JAMA Dermatol. 2024 Aug 1;160(8):822-829. doi: 10.1001/jamadermatol.2024.1657. JAMA Dermatol. 2024. PMID: 38865133
Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes.
Sirenko M, Bernard E, Creignou M, Domenico D, Farina A, Arango Ossa JE, Kosmider O, Hasserjian R, Jädersten M, Germing U, Sanz G, van de Loosdrecht AA, Gurnari C, Follo MY, Thol F, Zamora L, Pinheiro RF, Pellagatti A, Elias HK, Haase D, Sander B, Orna E, Zoldan K, Eder LN, Sperr WR, Thalhammer R, Ganster C, Adès L, Tobiasson M, Palomo L, Della Porta MG, Huberman K, Fenaux P, Belickova M, Savona MR, Klimek VM, Santos FPS, Boultwood J, Kotsianidis I, Santini V, Solé F, Platzbecker U, Heuser M, Valent P, Finelli C, Voso MT, Shih LY, Ogawa S, Fontenay M, Jansen JH, Cervera J, Ebert BL, Bejar R, Greenberg PL, Gattermann N, Malcovati L, Cazzola M, Beck DB, Hellström-Lindberg E, Papaemmanuil E. Sirenko M, et al. Among authors: beck db. Blood. 2024 Sep 12;144(11):1221-1229. doi: 10.1182/blood.2023023723. Blood. 2024. PMID: 38687605
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Oda H, Manthiram K, Chavan PP, Rieser E, Veli Ö, Kaya Ö, Rauch C, Nakabo S, Kuehn HS, Swart M, Wang Y, Çelik NI, Molitor A, Ziaee V, Movahedi N, Shahrooei M, Parvaneh N, Alipour-Olyei N, Carapito R, Xu Q, Preite S, Beck DB, Chae JJ, Nehrebecky M, Ombrello AK, Hoffmann P, Romeo T, Deuitch NT, Matthíasardóttir B, Mullikin J, Komarow H, Stoddard J, Niemela J, Dobbs K, Sweeney CL, Anderton H, Lawlor KE, Yoshitomi H, Yang D, Boehm M, Davis J, Mudd P, Randazzo D, Tsai WL, Gadina M, Kaplan MJ, Toguchida J, Mayer CT, Rosenzweig SD, Notarangelo LD, Iwai K, Silke J, Schwartzberg PL, Boisson B, Casanova JL, Bahram S, Rao AP, Peltzer N, Walczak H, Lalaoui N, Aksentijevich I, Kastner DL. Oda H, et al. Among authors: beck db. Nat Immunol. 2024 May;25(5):764-777. doi: 10.1038/s41590-024-01817-w. Epub 2024 Apr 12. Nat Immunol. 2024. PMID: 38609546 Free PMC article.
Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.
Ospina Cardona D, Rodriguez-Pinto I, Iosim S, Bonet N, Mensa-Vilaro A, Wong MK, Ho G, Tormo M, Yagüe J, Shon W, Wallace DJ, Casals F, Beck DB, Abuav R, Arostegui JI. Ospina Cardona D, et al. Among authors: beck db. Rheumatology (Oxford). 2024 Oct 1;63(10):2897-2902. doi: 10.1093/rheumatology/keae201. Rheumatology (Oxford). 2024. PMID: 38552317 Free PMC article.
Shared and distinct mechanisms of UBA1 inactivation across different diseases.
Collins JC, Magaziner SJ, English M, Hassan B, Chen X, Balanda N, Anderson M, Lam A, Fernandez-Pol S, Kwong B, Greenberg PL, Terrier B, Likhite ME, Kosmider O, Wang Y, Samara NL, Walters KJ, Beck DB, Werner A. Collins JC, et al. Among authors: beck db. EMBO J. 2024 May;43(10):1919-1946. doi: 10.1038/s44318-024-00046-z. Epub 2024 Feb 15. EMBO J. 2024. PMID: 38360993 Free PMC article.
70 results