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A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
IRF4 International Consortium; Fornes O, Jia A, Kuehn HS, Min Q, Pannicke U, Schleussner N, Thouenon R, Yu Z, de Los Angeles Astbury M, Biggs CM, Galicchio M, Garcia-Campos JA, Gismondi S, Gonzalez Villarreal G, Hildebrand KJ, Hönig M, Hou J, Moshous D, Pittaluga S, Qian X, Rozmus J, Schulz AS, Staines-Boone AT, Sun B, Sun J, Uwe S, Venegas-Montoya E, Wang W, Wang X, Ying W, Zhai X, Zhou Q, Akalin A, André I, Barth TFE, Baumann B, Brüstle A, Burgio G, Bustamante JC, Casanova JL, Casarotto MG, Cavazzana M, Chentout L, Cockburn IA, Costanza M, Cui C, Daumke O, Del Bel KL, Eibel H, Feng X, Franke V, Gebhardt JCM, Götz A, Grunwald S, Hoareau B, Hughes TR, Jacobsen EM, Janz M, Jolma A, Lagresle-Peyrou C, Lai N, Li Y, Lin S, Lu HY, Lugo-Reyes SO, Meng X, Möller P, Moreno-Corona N, Niemela JE, Novakovsky G, Perez-Caraballo JJ, Picard C, Poggi L, Puig-Lombardi ME, Randall KL, Reisser A, Schmitt Y, Seneviratne S, Sharma M, Stoddard J, Sundararaj S, Sutton H, Tran LQ, Wang Y, Wasserman WW, Wen Z, Winkler W, Xiong E, Yang AWH, Yu M, Zhang L, Zhang H, Zhao Q, Zhen X, Enders A, Kracker S, Martinez-Barricarte R, Mathas S, Rosenzweig SD, Schwarz K, Turvey SE, Wang JY. IRF4 International Consortium, et al. Among authors: jolma a. Sci Immunol. 2023 Jan 20;8(79):eade7953. doi: 10.1126/sciimmunol.ade7953. Epub 2023 Jan 20. Sci Immunol. 2023. PMID: 36662884 Free PMC article.
The Human Transcription Factors.
Lambert SA, Jolma A, Campitelli LF, Das PK, Yin Y, Albu M, Chen X, Taipale J, Hughes TR, Weirauch MT. Lambert SA, et al. Among authors: jolma a. Cell. 2018 Feb 8;172(4):650-665. doi: 10.1016/j.cell.2018.01.029. Cell. 2018. PMID: 29425488 Free article. Review.
A GO catalogue of human DNA-binding transcription factors.
Lovering RC, Gaudet P, Acencio ML, Ignatchenko A, Jolma A, Fornes O, Kuiper M, Kulakovskiy IV, Lægreid A, Martin MJ, Logie C. Lovering RC, et al. Among authors: jolma a. Biochim Biophys Acta Gene Regul Mech. 2021 Nov-Dec;1864(11-12):194765. doi: 10.1016/j.bbagrm.2021.194765. Epub 2021 Oct 18. Biochim Biophys Acta Gene Regul Mech. 2021. PMID: 34673265
Multiparameter functional diversity of human C2H2 zinc finger proteins.
Schmitges FW, Radovani E, Najafabadi HS, Barazandeh M, Campitelli LF, Yin Y, Jolma A, Zhong G, Guo H, Kanagalingam T, Dai WF, Taipale J, Emili A, Greenblatt JF, Hughes TR. Schmitges FW, et al. Among authors: jolma a. Genome Res. 2016 Dec;26(12):1742-1752. doi: 10.1101/gr.209643.116. Epub 2016 Nov 16. Genome Res. 2016. PMID: 27852650 Free PMC article.
The Human Transcription Factors.
Lambert SA, Jolma A, Campitelli LF, Das PK, Yin Y, Albu M, Chen X, Taipale J, Hughes TR, Weirauch MT. Lambert SA, et al. Among authors: jolma a. Cell. 2018 Oct 4;175(2):598-599. doi: 10.1016/j.cell.2018.09.045. Cell. 2018. PMID: 30290144 Free article. No abstract available.
A bacteriophage mimic of the bacterial nucleoid-associated protein Fis.
Chakraborti S, Balakrishnan D, Trotter AJ, Gittens WH, Yang AWH, Jolma A, Paterson JR, Świątek S, Plewka J, Curtis FA, Bowers LY, Pålsson LO, Hughes TR, Taube M, Kozak M, Heddle JG, Sharples GJ. Chakraborti S, et al. Among authors: jolma a. Biochem J. 2020 Apr 17;477(7):1345-1362. doi: 10.1042/BCJ20200146. Biochem J. 2020. PMID: 32207815 Free PMC article.
RNA-binding proteins that lack canonical RNA-binding domains are rarely sequence-specific.
Ray D, Laverty KU, Jolma A, Nie K, Samson R, Pour SE, Tam CL, von Krosigk N, Nabeel-Shah S, Albu M, Zheng H, Perron G, Lee H, Najafabadi H, Blencowe B, Greenblatt J, Morris Q, Hughes TR. Ray D, et al. Among authors: jolma a. Sci Rep. 2023 Mar 31;13(1):5238. doi: 10.1038/s41598-023-32245-9. Sci Rep. 2023. PMID: 37002329 Free PMC article.
31 results