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Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
Pagnamenta AT, Murakami Y, Taylor JM, Anzilotti C, Howard MF, Miller V, Johnson DS, Tadros S, Mansour S, Temple IK, Firth R, Rosser E, Harrison RE, Kerr B, Popitsch N; DDD Study; Kinoshita T, Taylor JC, Kini U. Pagnamenta AT, et al. Among authors: anzilotti c. Eur J Hum Genet. 2017 Jun;25(6):669-679. doi: 10.1038/ejhg.2017.32. Epub 2017 Mar 22. Eur J Hum Genet. 2017. PMID: 28327575 Free PMC article.
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F, North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y, Clarke NF. Ilkovski B, et al. Among authors: anzilotti c. Hum Mol Genet. 2015 Nov 1;24(21):6146-59. doi: 10.1093/hmg/ddv331. Epub 2015 Aug 20. Hum Mol Genet. 2015. PMID: 26293662 Free PMC article.
Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility.
Dhalla F, Fox H, Davenport EE, Sadler R, Anzilotti C, van Schouwenburg PA, Ferry B, Chapel H, Knight JC, Patel SY. Dhalla F, et al. Among authors: anzilotti c. Clin Exp Immunol. 2016 May;184(2):216-27. doi: 10.1111/cei.12746. Epub 2016 Feb 9. Clin Exp Immunol. 2016. PMID: 26621323 Free PMC article.
Themis2: setting the threshold for B-cell selection.
Deobagkar-Lele M, Anzilotti C, Cornall RJ. Deobagkar-Lele M, et al. Among authors: anzilotti c. Cell Mol Immunol. 2017 Aug;14(8):643-645. doi: 10.1038/cmi.2017.27. Epub 2017 Jun 19. Cell Mol Immunol. 2017. PMID: 28626236 Free PMC article. No abstract available.
53BP1 cooperation with the REV7-shieldin complex underpins DNA structure-specific NHEJ.
Ghezraoui H, Oliveira C, Becker JR, Bilham K, Moralli D, Anzilotti C, Fischer R, Deobagkar-Lele M, Sanchiz-Calvo M, Fueyo-Marcos E, Bonham S, Kessler BM, Rottenberg S, Cornall RJ, Green CM, Chapman JR. Ghezraoui H, et al. Among authors: anzilotti c. Nature. 2018 Aug;560(7716):122-127. doi: 10.1038/s41586-018-0362-1. Epub 2018 Jul 25. Nature. 2018. PMID: 30046110 Free PMC article.
30 results