Results 21 to 30 of about 15,547 (147)

Mutation of MeCP2 at T158M Leads to Distinct Molecular and Phenotypic Abnormalities in Male and Female Mice

Cells
Methyl CpG-binding protein 2 (MeCP2) is an epigenetic reader of DNA methylation with high abundance in the brain. While genetic mutations occur across different protein domains of MeCP2, the T158M mutation is amongst the most frequent MeCP2 mutations ...
Chris-Tiann Roberts, Ashraf Kadar Shahib, Khatereh Saei Arezoumand, Ghanan Bin Akhtar, Kazem Nejati-Koshki, Jessica S. Jarmasz, Seyyed Mohyeddin Ziaee, Marjorie Buist, Nicole Raabe, Abbas Rezaeian Mehrabadi, Carl O. Olson, Mojgan Rastegar   +11 more
doaj   +1 more source

Understanding intellectual disability and autism spectrum disorders from common mouse models: synapses to behaviour [PDF]

Open Biology, 2019
Normal brain development is highly dependent on the timely coordinated actions of genetic and environmental processes, and an aberration can lead to neurodevelopmental disorders (NDDs).
Vijaya Verma, Abhik Paul, Anjali Amrapali Vishwanath, Bhupesh Vaidya, James P. Clement   +4 more
doaj   +1 more source

MeCP2 dependent heterochromatin reorganization during neural differentiation of a novel Mecp2-deficient embryonic stem cell reporter line.

PLoS ONE, 2012
The X-linked Mecp2 is a known interpreter of epigenetic information and mutated in Rett syndrome, a complex neurological disease. MeCP2 recruits HDAC complexes to chromatin thereby modulating gene expression and, importantly regulates higher order ...
Bianca Bertulat, Maria Luigia De Bonis, Floriana Della Ragione, Anne Lehmkuhl, Manuela Milden, Christian Storm, K Laurence Jost, Simona Scala, Brian Hendrich, Maurizio D'Esposito, M Cristina Cardoso   +10 more
doaj   +1 more source

Targeted modulation of IGFL2‐AS1 reveals its translational potential in cervical adenocarcinoma

Molecular Oncology, EarlyView.
Cervical adenocarcinoma patients face worse outcomes than squamous cell carcinoma counterparts despite similar treatment. The identification of IGFL2‐AS1's differential expression provides a molecular basis for distinguishing these histotypes, paving the way for personalized therapies and improved survival in vulnerable populations globally.
Ricardo Cesar Cintra, Lucca Paolo Hsu Helmich, Daniel Rodrigues de Bastos, Laura Sichero, Patrícia Savio de Araujo‐Souza, Fabio Passetti, Luisa Lina Villa   +6 more
wiley   +1 more source

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon, Nathalie Picard, Valeria d'Andrea, Enchi Chang, Joseph Leffler, Eleonora Centofante, Matthew Taylor, Francesca Bardi, Francesca Cavicchiolo, Takao K. Hensch, Stefano Panzeri, Chinfei Chen, Michela Fagiolini   +12 more
wiley   +1 more source

Embedded CRISPRi Enhances Gene‐Silencing Efficiency in Drosophila

Advanced Science, EarlyView.
Current CRISPR interference (CRISPRi) technology in Drosophila has limited efficiency. This study introduces the emCRISPRi platform, which significantly enhances transcriptional silencing efficacy by embedding inhibitory domains within the dCas9 architecture.
Pengchong Fu, Xuedi Zhang, Ying Zhou, Jie Zheng, Angyang Sun, Kailong Zhuang, Weiwei Bao, Guanjun Gao   +7 more
wiley   +1 more source

Mild expression differences of MECP2 influencing aggressive social behavior

EMBO Molecular Medicine, 2014
The X‐chromosomal MECP2/Mecp2 gene encodes methyl‐CpG‐binding protein 2, a transcriptional activator and repressor regulating many other genes. We discovered in male FVB/N mice that mild (~50%) transgenic overexpression of Mecp2 enhances aggression ...
Martesa Tantra, Christian Hammer, Anne Kästner, Liane Dahm, Martin Begemann, Chiranjeevi Bodda, Kurt Hammerschmidt, Ina Giegling, Beata Stepniak, Aracely Castillo Venzor, Bettina Konte, Begun Erbaba, Annette Hartmann, Asieh Tarami, Walter Schulz‐Schaeffer, Dan Rujescu, Ashraf U Mannan, Hannelore Ehrenreich   +17 more
doaj   +1 more source

MECP2 impairs neuronal structure by regulating KIBRA

Neurobiology of Disease, 2016
Using a Drosophila model of MECP2 gain-of-function, we identified memory associated KIBRA as a target of MECP2 in regulating dendritic growth. We found that expression of human MECP2 increased kibra expression in Drosophila, and targeted RNAi knockdown ...
Alison A. Williams, Robin White, Ashley Siniard, Jason Corneveaux, Matt Huentelman, Carsten Duch   +5 more
doaj   +1 more source

MeCP2 duplication causes hyperandrogenism by upregulating LHCGR and downregulating RORα

Cell Death and Disease, 2021
Duplication of MECP2 (methyl-CpG-binding protein 2) gene causes a serious neurological and developmental disorder called MECP2 duplication syndrome (MDS), which is usually found in males. A previous clinical study reported that MDS patient has precocious
Yu-Meng Wang, Yu Wu, Yu-Fang Zheng, Hong-Yan Wang   +3 more
doaj   +1 more source

NanoLoop: A Deep Learning Framework Leveraging Nanopore Sequencing for Chromatin Loop Prediction

Advanced Science, EarlyView.
Chromatin loops are central to gene regulation and 3D genome organization. Leveraging Nanopore sequencing's ability to jointly capture DNA sequence and methylation, we present NanoLoop, the first framework for genome‐wide chromatin loop prediction using Nanopore data.
Wenjie Huang, Li Tang, Matthew C. Hill, Yonghao Zhang, Jun Xie, Min Li   +5 more
wiley   +1 more source