نتایج جستجو برای: ژن mecp2

تعداد نتایج: 17535  

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2012
Xiaofen Zhong Hongda Li Qiang Chang

MeCP2 (methyl CpG binding protein 2) is a key player in recognizing methylated DNA and interpreting the epigenetic information encoded in different DNA methylation patterns. The functional significance of MeCP2 to the mammalian nervous system is highlighted by the discovery that mutations in the MECP2 gene cause Rett syndrome (RTT), a devastating neurological disease that shares many features w...

2014
Elisa Bellini Giulio Pavesi Isabella Barbiero Anna Bergo Chetan Chandola Mohammad S. Nawaz Laura Rusconi Gilda Stefanelli Marta Strollo Maria M. Valente Charlotte Kilstrup-Nielsen Nicoletta Landsberger

Although Rett syndrome (RTT) represents one of the most frequent forms of severe intellectual disability in females worldwide, we still have an inadequate knowledge of the many roles played by MeCP2 (whose mutations are responsible for most cases of RTT) and their relevance for RTT pathobiology. Several studies support a role of MeCP2 in the regulation of synaptic plasticity and homeostasis. At...

Journal: :American journal of physiology. Cell physiology 2013
Xin Jin Ningren Cui Weiwei Zhong Xiao-Tao Jin Chun Jiang

Rett syndrome is an autism spectrum disorder resulting from defects in the gene encoding the methyl-CpG-binding protein 2 (MeCP2). Deficiency of the Mecp2 gene causes abnormalities in several systems in the brain, especially the norepinephrinergic and GABAergic systems. The norepinephrinergic neurons in the locus coeruleus (LC) modulate a variety of neurons and play an important role in multipl...

2017
Lingyu Zhao Yingxun Liu Dongdong Tong Yannan Qin Juan Yang Meng Xue Ning Du Liying Liu Bo Guo Ni Hou Jia Han Siyuan Liu Na Liu Xiaoge Zhao Lumin Wang Yanke Chen Chen Huang

Methyl-CpG binding protein 2 (MeCP2) has recently been characterized as an oncogene frequently amplified in several types of cancer. However, its precise role in gastric cancer (GC) and the molecular mechanism of MeCP2 regulation are still largely unknown. Here we report that MeCP2 is highly expressed in primary GC tissues and the expression level is correlated with the clinicopathologic featur...

2018
Shivakumar Subbanna Nagaraja N. Nagre Madhu Shivakumar Vikram Joshi Delphine Psychoyos Abdullah Kutlar Nagavedi S. Umapathy Balapal S. Basavarajappa

Alcohol exposure can affect brain development, leading to long-lasting behavioral problems, including cognitive impairment, which together is defined as fetal alcohol spectrum disorder (FASD). However, the fundamental mechanisms through which this occurs are largely unknown. In this study, we report that the exposure of postnatal day 7 (P7) mice to ethanol activates caspase-3 via cannabinoid re...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2013
Minh Vu Chuong Nguyen Christy A Felice Fang Du Matthew V Covey John K Robinson Gail Mandel Nurit Ballas

Mutations in the methyl-CpG binding protein 2 gene, Mecp2, affect primarily the brain and lead to a wide range of neuropsychiatric disorders, most commonly Rett syndrome (RTT). Although the neuropathology of RTT is well understood, the cellular and molecular mechanism(s), which lead to the disease initiation and progression, has yet to be elucidated. RTT was initially attributed only to neurona...

2016
Charanya Sampathkumar Yuan-Ju Wu Mayur Vadhvani Thorsten Trimbuch Britta Eickholt Christian Rosenmund

Mutations in the MECP2 gene cause the neurodevelopmental disorder Rett syndrome (RTT). Previous studies have shown that altered MeCP2 levels result in aberrant neurite outgrowth and glutamatergic synapse formation. However, causal molecular mechanisms are not well understood since MeCP2 is known to regulate transcription of a wide range of target genes. Here, we describe a key role for a consti...

2015
NING SONG KEQIANG LI YAN WANG ZONGYOU CHEN LIUBIN SHI

Methyl-CpG-binding protein 2 (MeCP2) is a transcriptional repressor that has been implicated in tumor onset and progression. Compared with normal and other tumorous tissue, MeCP2 is highly expressed in well-differentiated adenocarcinoma and mucinous adenocarcinoma tissues, particularly at the invasion site of colorectal cancer tissues. The aim of the present study was to evaluate the potential ...

2011
Aaron Y.L. Cheung Lindsay M. Horvath Daria Grafodatskaya Peter Pasceri Rosanna Weksberg Akitsu Hotta Laura Carrel James Ellis

Rett syndrome (RTT) is a neurodevelopmental autism spectrum disorder that affects girls due primarily to mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). The majority of RTT patients carry missense and nonsense mutations leading to a hypomorphic MECP2, while null mutations leading to the complete absence of a functional protein are rare. MECP2 is an X-linked gene subject to ...

2012
Robert G. Wither Sinisa Colic Chiping Wu Berj L. Bardakjian Liang Zhang James H. Eubanks

Mutations in the X-linked gene encoding Methyl-CpG-binding protein 2 (MECP2) have been associated with neurodevelopmental and neuropsychiatric disorders including Rett Syndrome, X-linked mental retardation syndrome, severe neonatal encephalopathy, and Angelman syndrome. Although alterations in the performance of MeCP2-deficient mice in specific behavioral tasks have been documented, it remains ...

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