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A maternal-effect Padi6 variant causes nuclear and cytoplasmic abnormalities in oocytes, as well as failure of epigenetic reprogramming and zygotic genome activation in embryos.
Genes Dev. 2024 Mar 22;38(3-4):131-150. doi: 10.1101/gad.351238.123.
Genes Dev. 2024.
PMID: 38453481
Free PMC article.
The mismatch-repair proteins MSH2 and MSH6 interact with the imprinting control regions through the ZFP57-KAP1 complex.
Acurzio B, Cecere F, Giaccari C, Verma A, Russo R, Valletta M, Hay Mele B, Angelini C, Chambery A, Riccio A.
Acurzio B, et al. Among authors: giaccari c.
Epigenetics Chromatin. 2022 Aug 2;15(1):27. doi: 10.1186/s13072-022-00462-7.
Epigenetics Chromatin. 2022.
PMID: 35918739
Free PMC article.
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Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Pignata L, Cecere F, Verma A, Hay Mele B, Monticelli M, Acurzio B, Giaccari C, Sparago A, Hernandez Mora JR, Monteagudo-Sánchez A, Esteller M, Pereda A, Tenorio-Castano J, Palumbo O, Carella M, Prontera P, Piscopo C, Accadia M, Lapunzina P, Cubellis MV, de Nanclares GP, Monk D, Riccio A, Cerrato F.
Pignata L, et al. Among authors: giaccari c.
Clin Epigenetics. 2022 May 28;14(1):71. doi: 10.1186/s13148-022-01292-w.
Clin Epigenetics. 2022.
PMID: 35643636
Free PMC article.
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Zfp57 inactivation illustrates the role of ICR methylation in imprinted gene expression during neural differentiation of mouse ESCs.
Acurzio B, Verma A, Polito A, Giaccari C, Cecere F, Fioriniello S, Della Ragione F, Fico A, Cerrato F, Angelini C, Feil R, Riccio A.
Acurzio B, et al. Among authors: giaccari c.
Sci Rep. 2021 Jul 5;11(1):13802. doi: 10.1038/s41598-021-93297-3.
Sci Rep. 2021.
PMID: 34226608
Free PMC article.
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