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DNMT3B PWWP mutations cause hypermethylation of heterochromatin.
Taglini F, Kafetzopoulos I, Rolls W, Musialik KI, Lee HY, Zhang Y, Marenda M, Kerr L, Finan H, Rubio-Ramon C, Gautier P, Wapenaar H, Kumar D, Davidson-Smith H, Wills J, Murphy LC, Wheeler A, Wilson MD, Sproul D. Taglini F, et al. Among authors: sproul d. EMBO Rep. 2024 Mar;25(3):1130-1155. doi: 10.1038/s44319-024-00061-5. Epub 2024 Jan 30. EMBO Rep. 2024. PMID: 38291337 Free PMC article.
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.
Heyn P, Logan CV, Fluteau A, Challis RC, Auchynnikava T, Martin CA, Marsh JA, Taglini F, Kilanowski F, Parry DA, Cormier-Daire V, Fong CT, Gibson K, Hwa V, Ibáñez L, Robertson SP, Sebastiani G, Rappsilber J, Allshire RC, Reijns MAM, Dauber A, Sproul D, Jackson AP. Heyn P, et al. Among authors: sproul d. Nat Genet. 2019 Jan;51(1):96-105. doi: 10.1038/s41588-018-0274-x. Epub 2018 Nov 26. Nat Genet. 2019. PMID: 30478443 Free PMC article.
Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair.
Sherwood K, Ward JC, Soriano I, Martin L, Campbell A, Rahbari R, Kafetzopoulos I, Sproul D, Green A, Sampson JR, Donaldson A, Ong KR, Heinimann K, Nielsen M, Thomas H, Latchford A, Palles C, Tomlinson I. Sherwood K, et al. Among authors: sproul d. Nat Commun. 2023 Jun 19;14(1):3636. doi: 10.1038/s41467-023-39248-0. Nat Commun. 2023. PMID: 37336879 Free PMC article.
45 results