نتایج جستجو برای: ژن mecp2

تعداد نتایج: 17535  

2013
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

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. To gain insight into this dual function of MeCP2, we assessed the impact of MeCP2 on higher-order chromatin structure in living cells using mammalian cell systems harbouring a lactose operator and reporter gen...

Journal: :Human Molecular Genetics 2009
Shay Ben-Shachar Maria Chahrour Christina Thaller Chad A. Shaw Huda Y. Zoghbi

A group of post-natal neurodevelopmental disorders collectively referred to as MeCP2 disorders are caused by aberrations in the gene encoding methyl-CpG-binding protein 2 (MECP2). Loss of MeCP2 function causes Rett syndrome (RTT), whereas increased copy number of the gene causes MECP2 duplication or triplication syndromes. MeCP2 acts as a transcriptional repressor, however the gene expression c...

2013
Dag H Yasui Huichun Xu Keith W Dunaway Janine M LaSalle Lee-Way Jin Izumi Maezawa

UNLABELLED BACKGROUND Mutations in MECP2 encoding methyl-CpG-binding protein 2 (MeCP2) cause the X-linked neurodevelopmental disorder Rett syndrome. Rett syndrome patients exhibit neurological symptoms that include irregular breathing, impaired mobility, stereotypic hand movements, and loss of speech. MeCP2 protein epigenetically modulates gene expression through genome-wide binding to methy...

2017
Tian-Lin Cheng Jingqi Chen Huida Wan Bin Tang Weidong Tian Lujian Liao Zilong Qiu

Mutations of X-linked gene Methyl CpG binding protein 2 (MECP2) are the major causes of Rett syndrome (RTT), a severe neurodevelopmental disorder. Duplications of MECP2-containing genomic segments lead to severe autistic symptoms in human. MECP2-coding protein methyl-CpG-binding protein 2 (MeCP2) is involved in transcription regulation, microRNA processing and mRNA splicing. However, molecular ...

Journal: :Psychopharmacology 2021

Epigenetic regulation has been implicated in the incubation of drug craving (the time-dependent increase seeking after prolonged withdrawal from self-administration). There is little information available on role microRNAs heroin craving. This study aimed to investigate roles and mechanisms miR-181a methyl CpG binding protein 2 (MeCP2) nucleus accumbens (NAc) seeking. MiRNA sequencing was used ...

Journal: :Epigenetics 2006
Raman P Nagarajan Amber R Hogart Ynnez Gwye Michelle R Martin Janine M LaSalle

Mutations in MECP2, encoding methyl CpG binding protein 2 (MeCP2), cause most cases of Rett syndrome (RTT), an X-linked neurodevelopmental disorder. Both RTT and autism are "pervasive developmental disorders" and share a loss of social, cognitive and language skills and a gain in repetitive stereotyped behavior, following apparently normal perinatal development. Although MECP2 coding mutations ...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2012
Somasish Ghosh Dastidar Farah H Bardai Chi Ma Valerie Price Varun Rawat Pragya Verma Vinodh Narayanan Santosh R D'Mello

The methyl-CpG binding protein 2 (MeCP2) is a widely expressed protein, the mutations of which cause Rett syndrome. The level of MeCP2 is highest in the brain where it is expressed selectively in mature neurons. Its functions in postmitotic neurons are not known. The MeCP2 gene is alternatively spliced to generate two proteins with different N termini, designated as MeCP2-e1 and MeCP2-e2. The p...

2016
Carlos Bueno Rafael Tabares-Seisdedos Jose M. Moraleda Salvador Martinez

Dysfunctions of MeCP2 protein lead to various neurological disorders such as Rett syndrome and Autism. The exact functions of MeCP2 protein is still far from clear. At a molecular level, there exist contradictory data. MeCP2 protein is considered a single immunoreactive band around 75 kDa by western-blot analysis but several reports have revealed the existence of multiple MeCP2 immunoreactive b...

Journal: :Human molecular genetics 2008
Denis G M Jugloff Katrina Vandamme Richard Logan Naomi P Visanji Jonathan M Brotchie James H Eubanks

Rett syndrome is an X-linked neurological condition affecting almost exclusively girls that is caused by mutations of the MECP2 gene. Recent studies have shown that transgenic delivery of MeCP2 function to Mecp2-deficient male mice can improve their Rett-like behavior. However, as the brain of a Rett girl contains a mosaic of MeCP2 expressing and non-expressing neurons, and the over-expression ...

Journal: :Human molecular genetics 2014
Yoshiaki Tanaka Kun-Yong Kim Mei Zhong Xinghua Pan Sherman Morton Weissman In-Hyun Park

Rett syndrome (RTT) is one of the most prevalent female mental disorders. De novo mutations in methyl CpG-binding protein 2 (MeCP2) are a major cause of RTT. MeCP2 regulates gene expression as a transcription regulator as well as through long-range chromatin interaction. Because MeCP2 is present on the X chromosome, RTT is manifested in an X-linked dominant manner. Investigation using murine Me...

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