Maria Brigida相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

GADD45Î² inhibits RIPK3-mediated NF-ÎºB activation by interfering with NEMO-RIPK1-RIPK3 interactions.

GADD45β 通过干扰 NEMO-RIPK1-RIPK3 相互作用来抑制 RIPK3 介导的 NF-κB 激活。

期刊:Cell Death Discovery

doi:10.1038/s41420-025-02894-y

Casale Carmela, Colella Alete, Cruoglio Miriam, Mirra Serena, Iaccarino Emanuela, Lioi Maria Brigida, Fusco Francesca, Sandomenico Annamaria, Leonardi Antonio, Zazzeroni Francesca, Pescatore Alessandra

发表日期：2025

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Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability

对患有不同程度智力障碍的男性患者中检测到的ARX基因座重复进行进一步描述

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms23063084

Poeta, Loredana; Malacarne, Michela; Padula, Agnese; Drongitis, Denise; Verrillo, Lucia; Lioi, Maria Brigida; Chiariello, Andrea M; Bianco, Simona; Nicodemi, Mario; Piccione, Maria; Salzano, Emanuela; Coviello, Domenico; Miano, Maria Giuseppina

发表日期：2022

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Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy

无脑畸形和发育性癫痫性脑病的 Arx 模型中微管组织和 RNA 代谢失调

期刊:Human Molecular Genetics

影响因子:3.1

doi:10.1093/hmg/ddac028

Denise Drongitis, Marianna Caterino, Lucia Verrillo, Pamela Santonicola, Michele Costanzo, Loredana Poeta, Benedetta Attianese, Adriano Barra, Gaetano Terrone, Maria Brigida Lioi, Simona Paladino, Elia Di Schiavi, Valerio Costa, Margherita Ruoppolo, Maria Giuseppina Miano

发表日期：2022

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Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures

对神经发育障碍中发生突变的一组 KDM5C 调控基因的分析可识别出时间共表达的大脑特征

doi:10.3390/genes12071088

Loredana Poeta, Agnese Padula, Maria Brigida Lioi, Hans van Bokhoven, Maria Giuseppina Miano

发表日期：2021

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Clinical utility gene card: for incontinentia pigmenti

临床实用基因卡：用于色素失禁

期刊:European Journal of Human Genetics

影响因子:4.6

doi:10.1038/s41431-019-0463-9

Fusco, Francesca; Pescatore, Alessandra; Steffann, Julie; Bonnefont, Jean-Paul; De Oliveira, Judite; Lioi, Maria Brigida; Ursini, Matilde Valeria

发表日期：2019

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The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide

色素失禁症遗传生物样本库：研究设计和队列概况，旨在促进全球罕见病研究

期刊:European Journal of Human Genetics

影响因子:4.6

doi:10.1038/s41431-019-0451-0

Fusco, Francesca; Valente, Valeria; Fergola, Dario; Pescatore, Alessandra; Lioi, Maria Brigida; Ursini, Matilde Valeria

发表日期：2019

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Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.

组蛋白去甲基化酶 KDM5C 是 SAHA 敏感的中心枢纽，位于多种神经发育障碍相关转录轴的交汇处

期刊:Human Molecular Genetics

影响因子:3.2

doi:10.1093/hmg/ddz254

Poeta Loredana, Padula Agnese, Attianese Benedetta, Valentino Mariaelena, Verrillo Lucia, Filosa Stefania, Shoubridge Cheryl, Barra Adriano, Schwartz Charles E, Christensen Jesper, van Bokhoven Hans, Helin Kristian, Lioi Maria Brigida, Collombat Patrick, Gecz Jozef, Altucci Lucia, Di Schiavi Elia, Miano Maria Giuseppina

发表日期：2019

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Incontinentia pigmenti: report on data from 2000 to 2013

色素失禁：2000年至2013年数据报告

期刊:Orphanet Journal of Rare Diseases

影响因子:3.5

doi:10.1186/1750-1172-9-93

Fusco, Francesca; Paciolla, Mariateresa; Conte, Matilde Immacolata; Pescatore, Alessandra; Esposito, Elio; Mirabelli, Peppino; Lioi, Maria Brigida; Ursini, Matilde Valeria

发表日期：2014

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A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX

与 X 连锁智力障碍和癫痫相关的调控通路将 KDM5C 与 ARX 中的多聚丙氨酸扩增联系起来

期刊:American Journal of Human Genetics

影响因子:8.1

doi:10.1016/j.ajhg.2012.11.008

Loredana Poeta, Francesca Fusco, Denise Drongitis, Cheryl Shoubridge, Genesia Manganelli, Stefania Filosa, Mariateresa Paciolla, Monica Courtney, Patrick Collombat, Maria Brigida Lioi, Jozef Gecz, Matilde Valeria Ursini, Maria Giuseppina Miano

发表日期：2013

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