日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

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

母体效应 Padi6 变体导致卵母细胞的细胞核和细胞质异常,以及胚胎表观遗传重编程和合子基因组激活失败

Carlo Giaccari, Francesco Cecere, Lucia Argenziano, Angela Pagano, Antonio Galvao, Dario Acampora, Gianna Rossi, Bruno Hay Mele, Basilia Acurzio, Scott Coonrod, Maria Vittoria Cubellis, Flavia Cerrato, Simon Andrews, Sandra Cecconi, Gavin Kelsey, Andrea Riccio

Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum

两例 Silver-Russell 综合征谱系患者中不同机制导致 H19 和 KCNQ1OT1 印迹差异甲基化区域发生低甲基化

Francesco Passaretti, Laura Pignata, Giuseppina Vitiello, Viola Alesi, Gemma D'Elia, Francesco Cecere, Fabio Acquaviva, Daniele De Brasi, Antonio Novelli, Andrea Riccio, Achille Iolascon, Flavia Cerrato

Zfp57 inactivation illustrates the role of ICR methylation in imprinted gene expression during neural differentiation of mouse ESCs

Zfp57 失活说明 ICR 甲基化在小鼠 ESC 神经分化过程中印迹基因表达中的作用

Basilia Acurzio #, Ankit Verma #, Alessia Polito, Carlo Giaccari, Francesco Cecere, Salvatore Fioriniello, Floriana Della Ragione, Annalisa Fico, Flavia Cerrato, Claudia Angelini, Robert Feil, Andrea Riccio

The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model

H19/IGF2:IG-DMR 的 CTCF 结合位点数量与人源化小鼠模型中的 DNA 甲基化和表达印记相关

Andrea Freschi, Rosita Del Prete, Laura Pignata, Francesco Cecere, Francesco Manfrevola, Monica Mattia, Gilda Cobellis, Angela Sparago, Marisa S Bartolomei, Andrea Riccio, Flavia Cerrato

DNA Methylation in the Diagnosis of Monogenic Diseases

DNA甲基化在单基因疾病诊断中的作用

Flavia Cerrato, Angela Sparago, Francesca Ariani, Fulvia Brugnoletti, Luciano Calzari, Fabio Coppedè, Alessandro De Luca, Cristina Gervasini, Emiliano Giardina, Fiorella Gurrieri, Cristiana Lo Nigro, Giuseppe Merla, Monica Miozzo, Silvia Russo, Eugenio Sangiorgi, Silvia M Sirchia, Gabriella Maria Sq

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

与 NLRP5 母体效应变异相关的多位点印记障碍的表型变异范围从明显的印记障碍到明显健康的表型

Angela Sparago, Ankit Verma, Maria Grazia Patricelli, Laura Pignata, Silvia Russo, Luciano Calzari, Naomi De Francesco, Rosita Del Prete, Orazio Palumbo, Massimo Carella, Deborah J G Mackay, Faisal I Rezwan, Claudia Angelini, Flavia Cerrato, Maria Vittoria Cubellis, Andrea Riccio

Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice

组织特异性和马赛克印记缺陷是小鼠相反的先天性生长障碍的根本原因

Andrea Freschi, Stella K Hur, Federica Maria Valente, Folami Y Ideraabdullah, Angela Sparago, Maria Teresa Gentile, Andrea Oneglia, Diego Di Nucci, Luca Colucci-D'Amato, Joanne L Thorvaldsen, Marisa S Bartolomei, Andrea Riccio, Flavia Cerrato

ZFP57 recognizes multiple and closely spaced sequence motif variants to maintain repressive epigenetic marks in mouse embryonic stem cells

ZFP57 识别多个紧密间隔的序列基序变体,以维持小鼠胚胎干细胞中的抑制性表观遗传标记

Zahra Anvar, Marco Cammisa, Vincenzo Riso, Ilaria Baglivo, Harpreet Kukreja, Angela Sparago, Michael Girardot, Shraddha Lad, Italia De Feis, Flavia Cerrato, Claudia Angelini, Robert Feil, Paolo V Pedone, Giovanna Grimaldi, Andrea Riccio

Humanized H19/Igf2 locus reveals diverged imprinting mechanism between mouse and human and reflects Silver-Russell syndrome phenotypes

人源化 H19/Igf2 基因座揭示小鼠和人类之间不同的印迹机制并反映 Silver-Russell 综合征表型

Stella K Hur, Andrea Freschi, Folami Ideraabdullah, Joanne L Thorvaldsen, Lacey J Luense, Angela H Weller, Shelley L Berger, Flavia Cerrato, Andrea Riccio, Marisa S Bartolomei

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

涉及 CDKN1C 基因的两次母体重复与截然不同的生长表型相关

Susanne Eriksen Boonen #, Andrea Freschi #, Rikke Christensen, Federica Maria Valente, Dorte Launholt Lildballe, Lucia Perone, Orazio Palumbo, Massimo Carella, Niels Uldbjerg, Angela Sparago, Andrea Riccio, Flavia Cerrato