Results 51 to 60 of about 33,901 (278)

MECP2 isoform-specific vectors with regulated expression for Rett syndrome gene therapy. [PDF]

PLoS ONE, 2009
BACKGROUND:Rett Syndrome (RTT) is an Autism Spectrum Disorder and the leading cause of mental retardation in females. RTT is caused by mutations in the Methyl CpG-Binding Protein-2 (MECP2) gene and has no treatment.
Mojgan Rastegar, Akitsu Hotta, Peter Pasceri, Maisam Makarem, Aaron Y L Cheung, Shauna Elliott, Katya J Park, Megumi Adachi, Frederick S Jones, Ian D Clarke, Peter Dirks, James Ellis   +11 more
doaj   +1 more source

Gene regulation and epigenotype in Friedreich's ataxia [PDF]

, 2008
Friedreich??????s ataxia (FRDA) is known to be provoked by an abnormal GAA-repeat expansion located in the first intron of the FXN gene. As a result of the GAA expansion, patients exhibit low levels of FXN mRNA, leading to FRDA.
Rothe, Nadine, Rothe, Nadine
core   +2 more sources

Extending MeCP2 interactome: canonical nucleosomal histones interact with MeCP2

Nucleic Acids Research
Abstract MeCP2 is a general regulator of transcription involved in the repression/activation of genes depending on the local epigenetic context. It acts as a chromatin regulator and binds with exquisite specificity to gene promoters.
David Ortega-Alarcon, Rafael Claveria-Gimeno, Sonia Vega, Ladan Kalani, Olga C Jorge-Torres, Manel Esteller, Juan Ausio, Olga Abian, Adrian Velazquez-Campoy   +8 more
openaire   +6 more sources

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

Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome

BMC Medical Genomics, 2023
Abstract Background X-linked methyl-CpG-binding protein 2 (MECP2) duplication syndrome is prevalent in approximately 1% of X-linked intellectual disabilities. Accumulating evidence has suggested that MECP2 is the causative gene of MECP2 duplication syndrome. We report a case of a 17-year-old boy with a 1.2 Mb duplication
Keiko Akahoshi, Eiji Nakagawa, Yu-ichi Goto, Ken Inoue   +3 more
openaire   +3 more sources

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

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

Maternal high fat diet during pregnancy and lactation alters hepatic expression of insulin like growth factor-2 and key microRNAs in the adult offspring [PDF]

, 2009
Background miRNAs play important roles in the regulation of gene functions. Maternal dietary modifications during pregnancy and gestation have long-term effects on the offspring, but it is not known whether a maternal high fat (HF) diet during ...
Bruce, Kimberley D., Byrne, Christopher D., Cagampang, Felino R., Ceriello, Antonio, Didelot, Xavier, Hanson, Mark A., Lehnert, Hendrik, Vatish, Manu, Zhang, F. (Fang), Zhang, Junlong   +9 more
core   +3 more sources

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

Long-term home cage activity scans reveal lowered exploratory behaviour in symptomatic female Rett mice [PDF]

, 2013
<p>Numerous experimental models have been developed to reiterate endophenotypes of Rett syndrome, a neurodevelopmental disorder with a multitude of motor, cognitive and vegetative symptoms. Here, female Mecp2Stop mice [1] were characterised at mild
Abdala, Adachi, Alvarez-Saavedra, Alvarez-Saavedra, Amir, Andrea Plano, Bissonette, Bissonette, Bissonette, Blardi, Caeyenberghs, Chahrour, Chao, Chen, De Filippis, De Filippis, De Filippis, de Visser, Edelsbrunner, Fyffe, Gemelli, Gernot Riedel, Giacometti, Glaze, Gotoh, Guy, Guy, Hagberg, Hagberg, Jugloff, Kazlaukas, Kerr, Kondo, Langthorne, LaSalle, Lianne Robinson, Lonetti, McGill, Moretti, Motulsky, Mount, Murakami, Nagarajan, Niedermeyer, Niedermeyer, Nomura, Pelka, Piazza, Pilcová, Plomin, Pratte, Reiss, Ricceri, Riedel, Robinson, Samaco, Samaco, Santos, Saywell, Shahbazian, Stearns, Stuart Cobb, Theander-Carrillo, Watson, Young, Young, Zappella   +66 more
core   +1 more source