All Relations between Rett Syndrome and mecp2

Publication Sentence Publish Date Extraction Date Species
Zilong Qiu, Emily L Sylwestrak, David N Lieberman, Yan Zhang, Xin-Yu Liu, Anirvan Ghos. The Rett syndrome protein MeCP2 regulates synaptic scaling. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 32. issue 3. 2012-03-09. PMID:22262897. the rett syndrome protein mecp2 regulates synaptic scaling. 2012-03-09 2023-08-12 rat
Zilong Qiu, Emily L Sylwestrak, David N Lieberman, Yan Zhang, Xin-Yu Liu, Anirvan Ghos. The Rett syndrome protein MeCP2 regulates synaptic scaling. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 32. issue 3. 2012-03-09. PMID:22262897. these observations indicate that mecp2 mediates activity-dependent synaptic scaling, and suggest that the pathophysiology of rett syndrome, which is caused by mutations in mecp2, may involve defects in activity-dependent regulation of synaptic currents. 2012-03-09 2023-08-12 rat
Jacky Guy, Hélène Cheval, Jim Selfridge, Adrian Bir. The role of MeCP2 in the brain. Annual review of cell and developmental biology. vol 27. 2012-02-29. PMID:21721946. mutations in the mecp2 gene were later found to be the cause of an autism spectrum disorder, rett syndrome. 2012-02-29 2023-08-12 Not clear
Gene Ananiev, Emily Cunningham Williams, Hongda Li, Qiang Chan. Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model. PloS one. vol 6. issue 9. 2012-02-10. PMID:21966470. rett syndrome (rtt) is an autism spectrum developmental disorder caused by mutations in the x-linked methyl-cpg binding protein 2 (mecp2) gene. 2012-02-10 2023-08-12 mouse
Kitty-Rose Foley, Jenny Downs, Ami Bebbington, Peter Jacoby, Sonya Girdler, Walter E Kaufmann, Helen Leonar. Change in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year period. Journal of child neurology. vol 26. issue 10. 2012-02-08. PMID:21636779. rett syndrome is a rare but severe neurological disorder typically associated with a mutation in the mecp2 gene. 2012-02-08 2023-08-12 human
Rosangela Artuso, Filomena T Papa, Elisa Grillo, Mafalda Mucciolo, Dag H Yasui, Keith W Dunaway, Vittoria Disciglio, Maria A Mencarelli, Marzia Pollazzon, Michele Zappella, Giuseppe Hayek, Francesca Mari, Alessandra Renieri, Janine M Lasalle, Francesca Arian. Investigation of modifier genes within copy number variations in Rett syndrome. Journal of human genetics. vol 56. issue 7. 2012-02-03. PMID:21593744. mecp2 mutations are responsible for two different phenotypes in females, classical rett syndrome and the milder zappella variant (z-rtt). 2012-02-03 2023-08-12 Not clear
Noopur Agarwal, Annette Becker, K Laurence Jost, Sebastian Haase, Basant K Thakur, Alessandro Brero, Tanja Hardt, Shinichi Kudo, Heinrich Leonhardt, M Cristina Cardos. MeCP2 Rett mutations affect large scale chromatin organization. Human molecular genetics. vol 20. issue 21. 2012-01-31. PMID:21831886. rett syndrome is a neurological, x chromosomal-linked disorder associated with mutations in the mecp2 gene. 2012-01-31 2023-08-12 Not clear
Noopur Agarwal, Annette Becker, K Laurence Jost, Sebastian Haase, Basant K Thakur, Alessandro Brero, Tanja Hardt, Shinichi Kudo, Heinrich Leonhardt, M Cristina Cardos. MeCP2 Rett mutations affect large scale chromatin organization. Human molecular genetics. vol 20. issue 21. 2012-01-31. PMID:21831886. we propose that different interactions of mecp2 with methyl cytosines, dna and likely other heterochromatin proteins are required for mecp2 function and their dysfunction lead to rett syndrome. 2012-01-31 2023-08-12 Not clear
Yan Jiang, Anouch Matevossian, Yin Guo, Schahram Akbaria. Setdb1-mediated histone H3K9 hypermethylation in neurons worsens the neurological phenotype of Mecp2-deficient mice. Neuropharmacology. vol 60. issue 7-8. 2012-01-18. PMID:20869373. rett syndrome (rtt, omim # 312750), a neurodevelopmental disorder of early childhood, is primarily caused by mutations in the gene encoding methyl-cpg-binding protein 2 (mecp2). 2012-01-18 2023-08-12 mouse
Kirti Mittal, Neerja Gupta, Madhulika Kabra, Ramesh Juyal, B K Thelm. Distinct de novo deletions in a brother-sister pair with RTT: a case report. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 156B. issue 7. 2012-01-17. PMID:21812101. rett syndrome (rtt), a neurodevelopmental disorder caused by mutations in the x-linked gene encoding methyl-cpg-binding protein2 (mecp2), is a leading cause of mental retardation in females. 2012-01-17 2023-08-12 Not clear
Mary E Blue, Walter E Kaufmann, Joseph Bressler, Charlotte Eyring, Cliona O'driscoll, Sakkubai Naidu, Michael V Johnsto. Temporal and regional alterations in NMDA receptor expression in Mecp2-null mice. Anatomical record (Hoboken, N.J. : 2007). vol 294. issue 10. 2012-01-17. PMID:21901842. our previous postmortem study of girls with rett syndrome (rtt), a development disorder caused by mecp2 mutations, found increases in the density of n-methyl-d-aspartate (nmda) receptors in the prefrontal cortex of 2-8-year-old girls, whereas girls older than 10 years had reductions in nmda receptors compared with age-matched controls (blue et al., ann neurol 1999b;45:541-545). 2012-01-17 2023-08-12 mouse
S Mayo, S Monfort, M Roselló, C Orellana, S Oltra, J Armstrong, V Català, F Martíne. De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation. Cytogenetic and genome research. vol 135. issue 2. 2012-01-05. PMID:21934280. loss-of-function mutations of the mecp2 gene are the cause of most cases of rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly. 2012-01-05 2023-08-12 Not clear
Cheol Kyu Hwang, Kyu Young Song, Chun Sung Kim, Hack Sun Choi, Xiao-Hong Guo, Ping-Yee Law, Li-Na Wei, Horace H Lo. Epigenetic programming of mu-opioid receptor gene in mouse brain is regulated by MeCP2 and Brg1 chromatin remodelling factor. Journal of cellular and molecular medicine. vol 13. issue 9B. 2011-12-23. PMID:19602036. mecp2 is associated closely with rett syndrome, a neurodevelopmental disorder. 2011-12-23 2023-08-12 mouse
Silvia Leoncini, Claudio De Felice, Cinzia Signorini, Alessandra Pecorelli, Thierry Durand, Giuseppe Valacchi, Lucia Ciccoli, Joussef Haye. Oxidative stress in Rett syndrome: natural history, genotype, and variants. Redox report : communications in free radical research. vol 16. issue 4. 2011-12-21. PMID:21888765. rett syndrome (rtt) is an x-linked autism spectrum disorder caused by mutations in the mecp2 gene in the great majority of cases. 2011-12-21 2023-08-12 Not clear
Dongbo Yu, Fuminori Sakurai, David R Core. Clonal Rett Syndrome cell lines to test compounds for activation of wild-type MeCP2 expression. Bioorganic & medicinal chemistry letters. vol 21. issue 18. 2011-12-19. PMID:21840716. clonal rett syndrome cell lines to test compounds for activation of wild-type mecp2 expression. 2011-12-19 2023-08-12 Not clear
Dongbo Yu, Fuminori Sakurai, David R Core. Clonal Rett Syndrome cell lines to test compounds for activation of wild-type MeCP2 expression. Bioorganic & medicinal chemistry letters. vol 21. issue 18. 2011-12-19. PMID:21840716. rett syndrome is an x-linked progressive neurological disorder caused by inactivation of one allele of the mecp2 gene. 2011-12-19 2023-08-12 Not clear
Gitte Roende, Kirstine Ravn, Kathrine Fuglsang, Henrik Andersen, Jytte Bieber Nielsen, Karen Brøndum-Nielsen, Jens-Erik Beck Jense. DXA measurements in Rett syndrome reveal small bones with low bone mass. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. vol 26. issue 9. 2011-12-14. PMID:21590733. low bone mass is reported in growth-retarded patients harboring mutations in the x-linked methyl-cpg-binding protein 2 (mecp2) gene causing rett syndrome (rtt). 2011-12-14 2023-08-12 Not clear
Nicolas Panayotis, Michel Pratte, Ana Borges-Correia, Adeline Ghata, Laurent Villard, Jean-Christophe Rou. Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse. Neurobiology of disease. vol 41. issue 2. 2011-11-22. PMID:20951208. rett syndrome (rtt) is a severe neurological disorder caused by mutations in the mecp2 gene, in which older patients often develop parkinsonian features. 2011-11-22 2023-08-12 mouse
Kirstine Ravn, Gitte Roende, Morten Duno, Kathrine Fuglsang, Kristin L Eiklid, Zeynep Tümer, Jytte B Nielsen, Ola H Skjelda. Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. Orphanet journal of rare diseases. vol 6. 2011-11-21. PMID:21878110. two new rett syndrome families and review of the literature: expanding the knowledge of mecp2 frameshift mutations. 2011-11-21 2023-08-12 Not clear
Kirstine Ravn, Gitte Roende, Morten Duno, Kathrine Fuglsang, Kristin L Eiklid, Zeynep Tümer, Jytte B Nielsen, Ola H Skjelda. Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. Orphanet journal of rare diseases. vol 6. 2011-11-21. PMID:21878110. rett syndrome (rtt) is an x-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the mecp2 gene. 2011-11-21 2023-08-12 Not clear