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A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI).
Lin B, Berard R, Al Rasheed A, Aladba B, Kranzusch PJ, Henderlight M, Grom A, Kahle D, Torreggiani S, Aue AG, Mitchell J, de Jesus AA, Schulert GS, Goldbach-Mansky R. Lin B, et al. J Allergy Clin Immunol. 2020 Nov;146(5):1204-1208.e6. doi: 10.1016/j.jaci.2020.06.032. Epub 2020 Jul 13. J Allergy Clin Immunol. 2020. PMID: 32673614 Free PMC article. No abstract available.
Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype.
Lee Y, Wessel AW, Xu J, Reinke JG, Lee E, Kim SM, Hsu AP, Zilberman-Rudenko J, Cao S, Enos C, Brooks SR, Deng Z, Lin B, de Jesus AA, Hupalo DN, Piotto DG, Terreri MT, Dimitriades VR, Dalgard CL, Holland SM, Goldbach-Mansky R, Siegel RM, Hanson EP. Lee Y, et al. Among authors: lin b. J Clin Invest. 2022 Mar 15;132(6):e128808. doi: 10.1172/JCI128808. J Clin Invest. 2022. PMID: 35289316 Free PMC article.
Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).
Papendorf JJ, Ebstein F, Alehashemi S, Piotto DGP, Kozlova A, Terreri MT, Shcherbina A, Rastegar A, Rodrigues M, Pereira R, Park S, Lin B, Uss K, Möller S, da Silva Pina AF, Sztajnbok F, Torreggiani S, Niemela J, Stoddard J, Rosenzweig SD, Oler AJ, McNinch C, de Guzman MM, Fonseca A, Micheloni N, Fraga MM, Perazzio SF, Goldbach-Mansky R, de Jesus AA, Krüger E. Papendorf JJ, et al. Among authors: lin b. Front Immunol. 2023 Aug 4;14:1190104. doi: 10.3389/fimmu.2023.1190104. eCollection 2023. Front Immunol. 2023. PMID: 37600812 Free PMC article.
A genome-wide screen uncovers multiple roles for mitochondrial nucleoside diphosphate kinase D in inflammasome activation.
Ernst O, Sun J, Lin B, Banoth B, Dorrington MG, Liang J, Schwarz B, Stromberg KA, Katz S, Vayttaden SJ, Bradfield CJ, Slepushkina N, Rice CM, Buehler E, Khillan JS, McVicar DW, Bosio CM, Bryant CE, Sutterwala FS, Martin SE, Lal-Nag M, Fraser IDC. Ernst O, et al. Among authors: lin b. Sci Signal. 2021 Aug 3;14(694):eabe0387. doi: 10.1126/scisignal.abe0387. Sci Signal. 2021. PMID: 34344832 Free PMC article.
6,424 results