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Mecp2

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https://www.readbyqxmd.com/read/29234621/neonatal-exposure-to-6-n-propyl-thiouracil-an-anti-thyroid-drug-alters-expression-of-hepatic-dna-methyltransferases-methyl-cpg-binding-proteins-gadd45a-p53-and-pcna-in-adult-male-rats
#1
Suresh Kumar Bunker, Jagneshwar Dandapat, Gagan B N Chainy, Sunil Kumar Sahoo, Prabhat Kumar Nayak
Background: Neonatal 6-n-propyl-2-thiouracil (PTU) exposure to male rats is reported to impair liver function in adulthood. However, the mechanism by which the drug impairs liver function is not well known. Objectives: The objectives of the study were to investigate the effects of neonatal exposure of PTU on the expression of DNA methyltransferases (DNMTs), methyl-DNA binding proteins (MBDs), Gadd45a, p53, and proliferating cell nuclear antigen (PCNA) in adult rat liver...
November 2017: European Thyroid Journal
https://www.readbyqxmd.com/read/29227625/genetic-reduction-or-negative-modulation-of-mglu7-does-not-impact-anxiety-and-fear-learning-phenotypes-in-a-mouse-model-of-mecp2-duplication-syndrome
#2
Nicole M Fisher, Rocco G Gogliotti, Sheryl Anne D Vermudez, Branden J Stansley, P Jeffrey Conn, Colleen M Niswender
Rett syndrome and MECP2 Duplication syndrome are neurodevelopmental disorders attributed to loss-of-function mutations in, or duplication of, the gene encoding Methyl-CpG-Binding Protein 2 (MeCP2), respectively. We recently reported decreased expression and function of the metabotropic glutamate receptor 7 (mGlu7) in a mouse model of Rett syndrome. Positive allosteric modulation of mGlu7 activity was sufficient to improve several disease phenotypes including cognition. Here, we tested the hypothesis that mGlu7 expression would be reciprocally regulated in a mouse model of MECP2 Duplication syndrome, such that negative modulation of mGlu7 activity would exert therapeutic benefit...
December 11, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/29213044/-the-course-and-development-of-epilepsy-in-patients-with-typical-variant-of-rett-syndrome-and-mutations
#3
M Yu Bobylova, I V Ivanova, I V Nekrasova, O A Pylaeva, K Yu Mukhin, A A Kholin, Ek S Iljina, A V Kulikov, El S Iljina, Yu E Nesterovsky
AIM: To study the anamnesis, clinical state, electro-encephalographic and brain MRI characteristics in patients with Rett syndrome (МЕСР2) and epilepsy. MATERIAL AND METHODS: Eleven female patients, aged from 3 to 23 years, with Rett syndrome and MeCP2 mutations were studied. The study continued for 10 years (2006-2015). Assessment of neurological and mental status, night sleep video-EEG monitoring, MRI were performed. RESULTS AND CONCLUSION: Epilepsy was diagnosed in six cases (54...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29206688/current-developments-in-the-genetics-of-rett-and-rett-like-syndrome
#4
Friederike Ehrhart, Nasim Bahram Sangani, Leopold M G Curfs
PURPOSE OF REVIEW: This article reviews the current molecular genetic studies, which investigate the genetic causes of Rett syndrome or Rett-like phenotypes without a classical MECP2 mutation. RECENT FINDINGS: As next generation sequencing becomes broadly available, especially whole exome sequencing is used in clinical diagnosis of the genetic causes of a wide spectrum of intellectual disability, autism, and encephalopathies. Patients who were diagnosed with Rett syndrome or Rett-like syndrome because of their phenotype but were negative for mutations in the MECP2, CDKL5 or FOXG1 genes were subjected to whole exome sequencing and the results of the last few years revealed yet 69 different genes...
December 4, 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/29203410/breathing-disturbances-in-a-model-of-rett-syndrome-a-potential-involvement-of-the-glycine-receptor-%C3%AE-3-subunit
#5
Guillaume Mesuret, Julia Dannenberg, Mauricio Arnoldt, Anja-Annett Grützner, Marcus Niebert, Swen Hülsmann
The glycine receptor α3 subunit is known to be a target for cAMP/PKA-mediated phosphorylation and regulation. Mice that lack this subunit are apparently normal but the 5-HT1A-receptor mediated modulation of respiratory network activity is disturbed. Since the intracellular cAMP-concentration is reduced in mice that lack the transcriptional modulator methyl-CpG-binding protein 2 (MeCP2) gene, we aimed to test if the α3 subunit of the glycine receptor is involved in the development of the breathing phenotype of MeCP2-deficient mice (Mecp2-/y)...
December 1, 2017: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/29199882/association-study-of-mecp2-gene-single-nucleotide-polymorphisms-in-juvenile-onset-systemic-lupus-erythematosus-patients-from-iran
#6
Mahdi Mahmoudi, Saeed Aslani, Elham Hamzeh, Vahid Ziaee, Shiva Poursani, Mohammad Hossein Nicknam, Nima Rezaei
INTRODUCTION: Juvenile-onset systemic lupus erythematosus is a multigenic autoimmune disorder. Polymorphisms of MECP2 gene have been reported to increase the risk of adult-onset SLE. In this study, we aimed to analyze if MECP2 gene polymorphisms could impress the proneness to JSLE in Iranian population. MATERIAL AND METHODS: Polymorphisms of MECP2 gene were genotyped in 50 Iranian JSLE patients and 426 matched healthy controls employing the real-time PCR allelic discrimination technique...
December 4, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29197521/high-phosphate-induced-downregulation-of-ppar%C3%AE-contributes-to-ckd-associated-vascular-calcification
#7
Liang Liu, Yong Liu, Ying Zhang, Xianjin Bi, Ling Nie, Chi Liu, Jiachuan Xiong, Ting He, Xinlin Xu, Yanlin Yu, Ke Yang, Jun Gu, Yunjian Huang, Jingbo Zhang, Zhiren Zhang, Bo Zhang, Jinghong Zhao
Medial arterial calcification associated with hyperphosphatemia is a main cause of cardiovascular mortality in patients with chronic kidney disease (CKD), but the mechanisms underlying high phosphate-induced vascular calcification remain largely unknown. Here, we observed a significant decrease in the expression of peroxisome proliferator-activated receptor-gamma (PPARγ) in calcified arteries both in CKD patients and in a mouse model of CKD with hyperphosphatemia. In vitro, high phosphate treatment led to a decreased expression of PPARγ in mouse vascular smooth muscle cells (VMSCs), accompanied by apparent osteogenic differentiation and calcification...
November 29, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29192455/-molecular-mechanism-of-total-flavonoids-in-isodon-amethystoides-on-adjuvant-arthritis-in-rats
#8
Cheng-Gui Miao, Wei-Jing Shi, Wei Wei, Mei-Song Qin, Hao Chen, Bing Zhang
Our preliminary study showed that the total flavonoids in Isodon amethystoides(TFIA), a local medicinal herb in Suzhou, had a certain therapeutic effect on adjuvant arthritis, and this therapeutic effect may be achieved through the up-regulation of miR-152 expression. In this paper, the molecular mechanism of TFIA on the pathogenesis of adjuvant arthritis(AA) rats was further studied. AA rats were prepared with complete Freund's adjuvant, and then treated with TFIA by intragastric administration. Real-time qPCR was used to detect the effects of TFIA on the negative regulatory loop of miR-152, methylase DNMT1 and methyl-CpG binding protein MeCP2 in fibroblast like synoviocytes(FLS) of AA rats, as well as the effects of TFIA on the classic Wnt signaling pathway and the expression of fibronectin gene in AA rats...
September 2017: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
https://www.readbyqxmd.com/read/29172690/role-of-mecp2-in-neurological-disorders-current-status-and-future-perspectives
#9
Juan Ausió
No abstract text is available yet for this article.
November 27, 2017: Epigenomics
https://www.readbyqxmd.com/read/29155363/homocysteine-inhibits-endothelial-progenitor-cell-proliferation-via-dnmt1-mediated-hypomethylation-of-cyclin-a
#10
Hui-Ping Zhang, Yan-Hua Wang, Sheng-Chao Ma, Hui Zhang, An-Ning Yang, Xiao-Ling Yang, Ming-Hao Zhang, Jian-Min Sun, Yin-Ju Hao, Yi-Deng Jiang
Endothelial progenitor cells (EPCs) contribute to neovasculogenesis and reendothelialization of damaged blood vessels to maintain the endothelium. Dysfunction of EPCs is implicated in the pathogenesis of vascular injury induced by homocysteine (Hcy). We aimed to investigate the role of Cyclin A in Hcy-induced EPCs dysfunction and explore its molecular mechanism. In this study, by treatment of EPCs with Hcy, we found that the expression of Cyclin A mRNA and protein were significantly downregulated in a dose-dependent manner...
November 16, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/29155278/mecp2-expression-in-a-rat-model-of-risky-decision-making
#11
Jay V Deng, Caitlin A Orsini, Kristy G Shimp, Barry Setlow
Many neuropsychiatric disorders are associated with abnormal decision making involving risk of punishment, but the underlying molecular basis remains poorly understood. Methyl CpG-binding Protein 2 (MeCP2) is an epigenetic factor that regulates transcription by directly binding to methylated DNA. Here, we evaluated MeCP2 expression in the context of risk-taking behaviors using the Risky Decision-making Task (RDT), in which rats make discrete choices between a small "safe" food reward and a large "risky" food reward accompanied by varying probabilities of punishment...
November 16, 2017: Neuroscience
https://www.readbyqxmd.com/read/29143227/pdgfr-inhibition-mediated-intracellular-signalling-in-c6-glioma-growth-and-migration-role-of-erk-and-rock-pathway
#12
Juhi Singh, Kedarlal Sharma, Prakash P Pillai
Aberrant PDGFR (Platelet derived growth factor receptor) signalling in brain tumors and gliomas is one of the primary cause of tumor progression. PDGFR stimulation by its ligand and the role of its downstream mediators such as extracellular regulated kinases (ERK1/2), PI3K and ROCK pathways have not been thoroughly investigated. The present study sought to investigate the role of PDGF receptor signalling inhibition on suppression of rat C6 glioma growth and migration. Treatment of C6 cells with PDGFR inhibitor, AG1295 caused a significant reduction in migration and proliferation by regulating the ERK and ROCK signalling...
November 15, 2017: Cytotechnology
https://www.readbyqxmd.com/read/29141583/clinical-and-molecular-genetic-characterization-of-familial-mecp2-duplication-syndrome-in-a-chinese-family
#13
Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen
BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity. METHODS: This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29137252/a-novel-mutation-r190h-in-the-at-hook-1-domain-of-mecp2-identified-in-an-atypical-rett-syndrome
#14
Xiao Zhou, Yuangao Liao, Miaojing Xu, Zhong Ji, Yunqi Xu, Liang Zhou, Xiaoming Wei, Peiqian Hu, Peng Han, Fanghan Yang, Suyue Pan, Yafang Hu
Background: Mutations in Methyl-CpG binding protein 2 (MECP2) have been identified as the disease-causing mutations in Rett Syndrome (RTT). However, no mutation in the AT-hook 1 domain of MECP2 has been reported in RTT yet. The function of AT-hook 1 domain of MECP2 has not been described either. Methods: The clinical and radiological features of a girl with progressive hyperactivity and loss of acquired linguistic and motor functions were presented. Next generation sequencing was used to screen the causative gene...
October 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29136107/contextual-fear-extinction-induces-hippocampal-metaplasticity-mediated-by-metabotropic-glutamate-receptor-5
#15
Branden J Stansley, Nicole M Fisher, Rocco G Gogliotti, Craig W Lindsley, P Jeffrey Conn, Colleen M Niswender
Dysregulated fear memory can lead to a broad spectrum of anxiety disorders. The brain systems underlying fear memory are manifold, with the hippocampus being prominently involved by housing fear-related spatial memories as engrams, which are created and stored through neural changes such as synaptic plasticity. Although metabotropic glutamate (mGlu) receptors contribute significantly to both fear behavior and hippocampal synaptic plasticity, the relationship between these two phenomena has not been fully elucidated...
November 9, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/29108229/mecp2-mediated-dysfunction-in-senescent-epcs
#16
Chunli Wang, Fei Wang, Zhen Li, Liya Huang, Qing Cao, Shuyan Chen
Aging endothelial progenitor cells (EPCs) exhibit functional impairment in terms of proliferation, migration and survival. SIRT1 plays an important role in improving EPCs function. MeCP2, another important epigenetic regulator, is involved in regulating many life-related activities such as cell growth, death and senescence. Here we aim to explore the effect of MeCP2 on the functional activities of senescent EPCs and the underlying mechanisms. By using western blot and real-time PCR, we found that the expression levels of MeCP2 were up-regulated and SIRT1 were down-regulated with replicative senescence and H2O2-induced senescence...
October 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/29101034/biophysical-characterization-of-the-basic-cluster-in-the-transcription-repression-domain-of-human-mecp2-with-at-rich-dna
#17
Ameeq Ul Mushtaq, Yejin Lee, Eunha Hwang, Jeong Kyu Bang, Eunmi Hong, Youngjoo Byun, Ji-Joon Song, Young Ho Jeon
MeCP2 is a chromatin associated protein which is highly expressed in brain and relevant with Rett syndrome (RTT). There are AT-hook motifs in MeCP2 which can bind with AT-rich DNA, suggesting a role in chromatin binding. Here, we report the identification and characterization of another AT-rich DNA binding motif (residues 295 to 313) from the C-terminal transcription repression domain of MeCP2 by nuclear magnetic resonance (NMR) and isothermal calorimetry (ITC). This motif shows a micromolar affinity to AT-rich DNA, and it binds to the minor groove of DNA like AT-hook motifs...
October 31, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29099289/trichostatin-a-decreases-the-levels-of-mecp2-expression-and-phosphorylation-and-increases-its-chromatin-binding-affinity
#18
Katrina V Good, Alexia Martínez de Paz, Monica Tyagi, Manjinder S Cheema, Anita A Thambirajah, Taylor L Gretzinger, Gilda Stefanelli, Bob Chow, Oliver Krupke, Michael Hendzel, Kristal Missiaen, Alan Underhill, Nicoletta Landsberger, Juan Ausió
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. Yet, the molecular mechanisms involved are not well known for the most part and, in particular, the relationship between histone acetylation and MeCP2 is not well understood. In this paper, we study the effect of the HDAC inhibitor trichostatin A (TSA) on MeCP2, a protein whose dysregulation plays an important role in these diseases...
November 3, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/29097744/alleviative-effects-of-fluoxetine-on-depressive-like-behaviors-by-epigenetic-regulation-of-bdnf-gene-transcription-in-mouse-model-of-post-stroke-depression
#19
Hui-Juan Jin, Lei Pei, Ya-Nan Li, Hui Zheng, Shuai Yang, Yan Wan, Ling Mao, Yuan-Peng Xia, Quan-Wei He, Man Li, Zhen-Yu Yue, Bo Hu
Fluoxetine, one of the selective serotonin reuptake inhibitor (SSRI) antidepressants, has been thought to be effective for treating post-stroke depression (PSD). Recent work has shown that fluoxetine may exert an antidepressive effect through increasing the level of brain-derived neurotrophic factor (BDNF), but the underlying mechanism still remains unclear. In the present study, we successfully established the PSD model using male C57BL/6 J mice by photothrombosis of the left anterior cortex combined with isolatied-housing conditions...
November 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29090669/mir-132-down-regulates-methyl-cpg-binding-protein-2-mecp2-during-cognitive-dysfunction-following-chronic-cerebral-hypoperfusion
#20
Zhao-Hui Yao, Xiao-Li Yao, Yong Zhang, Shao-Feng Zhang, Jichang Hu
BACKGROUND: Chronic Cerebral Hypoperfusion (CCH) is an important vascular risk factor for vascular-related dementia cognitive impairment and there are no effective measures for the prevention and treatment of cognitive deficit by CCH and the underlying mechanisms are still poorly understood. Methyl cytidine-phosphate-guanosine (CpG) binding protein 2 (MeCP2), regulated by microRNA 132 (miR-132), is as a transcriptional repressor in high concentrations in the brain, regulates the expression of synaptic proteins and neuroplasticity, and may be involved in the cognitive deficit after CCH...
November 1, 2017: Current Neurovascular Research
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