Results 31 to 40 of about 33,901 (278)

Genetic landscape of autism spectrum disorder in Vietnamese children [PDF]

, 2020
Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited.
Bui, HTP, Dao, LTM, Do, DH, Ha, LT, Le, HTT, Le, VS, Ly, HTT, Mukhopadhyay, A, Nguyen, HT, Nguyen, HT, Nguyen, LT, Tran, KT, Vu, DM   +12 more
core   +2 more sources

Large genomic rearrangements in MECP2 [PDF]

Human Mutation, 2005
In 1999, mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2) were first reported in patients with Rett syndrome (RTT). The MECP2 gene is located at Xq28 and consists of 4 exons. About 80-90 % of the classic RTT patients harbor mutations in the coding region of MECP2, while the molecular cause is unknown in the remaining 10-20%.
Kirstine, Ravn, Jytte Bieber, Nielsen, Ola Husbeth, Skjeldal, Alison, Kerr, Maj, Hulten, Marianne, Schwartz   +5 more
openaire   +2 more sources

Mecp2 regulates tnfa during zebrafish embryonic development and acute inflammation

Disease Models & Mechanisms, 2017
Mutations in MECP2 cause Rett syndrome, a severe neurological disorder with autism-like features. Duplication of MECP2 also causes severe neuropathology.
M. van der Vaart, O. Svoboda, B. G. Weijts, R. Espín-Palazón, V. Sapp, T. Pietri, M. Bagnat, A. R. Muotri, D. Traver   +8 more
doaj   +1 more source

MeCP2-induced heterochromatin organization is driven by oligomerization-based liquid–liquid phase separation and restricted by DNA methylation

Nucleus, 2022
Heterochromatin is the highly compacted form of chromatin with various condensation levels hallmarked by high DNA methylation. MeCP2 is mostly known as a DNA methylation reader but has also been reported as a heterochromatin organizer.
Hui Zhang, Hector Romero, Annika Schmidt, Katalina Gagova, Weihua Qin, Bianca Bertulat, Anne Lehmkuhl, Manuela Milden, Malte Eck, Tobias Meckel, Heinrich Leonhardt, M. Cristina Cardoso   +11 more
doaj   +1 more source

Rett Syndrome: Revised diagnostic criteria and nomenclature [PDF]

, 2010
Objective: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation
Amir, Archer, Ariani, Artuso, Bahi-Buisson, Carney, Christen, Einspieler, Goutieres, Hagberg, Hagberg, Hagberg, Hagberg, Hanefeld, Huppke, Kankirawatana, Leonard, Neul, Percy, Renieri, Rett, Rolando, Wan, Watson, Zappella   +24 more
core   +1 more source

Trichostatin A decreases the levels of MeCP2 expression and phosphorylation and increases its chromatin binding affinity

Epigenetics, 2017
MeCP2 binds to methylated DNA in a chromatin context and has an important role in cancer and brain development and function. Histone deacetylase (HDAC) inhibitors are currently being used to palliate many cancer and neurological disorders.
Katrina V. Good, Alexia Martínez de Paz, Monica Tyagi, Manjinder S. Cheema, Anita A. Thambirajah, Taylor L. Gretzinger, Gilda Stefanelli, Robert L. Chow, Oliver Krupke, Michael Hendzel, Kristal Missiaen, Alan Underhill, Nicoletta Landsberger, Juan Ausió   +13 more
doaj   +1 more source

A role for MeCP2 in switching gene activity via chromatin unfolding and HP1γ displacement.

PLoS ONE, 2013
Methyl-CpG-binding protein 2 (MeCP2) is generally considered to act as a transcriptional repressor, whereas recent studies suggest that MeCP2 is also involved in transcription activation.
Maartje C Brink, Diewertje G E Piebes, Marloes L de Groote, Martijn S Luijsterburg, Corella S Casas-Delucchi, Roel van Driel, Marianne G Rots, M Cristina Cardoso, Pernette J Verschure   +8 more
doaj   +1 more source

CNV and nervous system diseases - what's new? [PDF]

, 2008
Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified.
Gu, W., Lupski, J. R.
core   +3 more sources

MicroRNAs downregulated in neuropathic pain regulate MeCP2 and BDNF related to pain sensitivity

FEBS Open Bio, 2015
Nerve injury induces chronic pain and dysregulation of microRNAs in dorsal root ganglia (DRG). Several downregulated microRNAs are predicted to targetMecp2. MECP2 mutations cause Rett syndrome and these patients report decreased pain perception.
Melissa T. Manners, Yuzhen Tian, Zhaolan Zhou, Seena K. Ajit   +3 more
doaj   +1 more source

Evidence for both neuronal cell autonomous and nonautonomous effects of methyl-CpG-binding protein 2 in the cerebral cortex of female mice with Mecp2 mutation

Neurobiology of Disease, 2009
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the gene MECP2, encoding methyl-CpG-binding protein 2 (MeCP2). Few studies have explored dendritic morphology phenotypes in mouse models of RTT and none have determined
Nadia P. Belichenko, Pavel V. Belichenko, William C. Mobley   +2 more
doaj   +1 more source