| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Cornelia Brendel, Valery Belakhov, Hauke Werner, Eike Wegener, Jutta Gärtner, Igor Nudelman, Timor Baasov, Peter Huppk. Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model. Journal of molecular medicine (Berlin, Germany). vol 89. issue 4. 2011-06-27. PMID:21120444. |
thirty-five percent of patients with rett syndrome carry nonsense mutations in the mecp2 gene. |
2011-06-27 |
2023-08-12 |
mouse |
| Sara Ricciardi, Elena M Boggio, Stefano Grosso, Giuseppina Lonetti, Greta Forlani, Gilda Stefanelli, Eleonora Calcagno, Noemi Morello, Nicoletta Landsberger, Stefano Biffo, Tommaso Pizzorusso, Maurizio Giustetto, Vania Broccol. Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model. Human molecular genetics. vol 20. issue 6. 2011-06-20. PMID:21212100. |
rett syndrome (rtt) is a neurodevelopmental disorder with no efficient treatment that is caused in the majority of cases by mutations in the gene methyl-cpg binding-protein 2 (mecp2). |
2011-06-20 |
2023-08-12 |
Not clear |
| Jeffrey C Hansen, Rajarshi P Ghosh, Christopher L Woodcoc. Binding of the Rett syndrome protein, MeCP2, to methylated and unmethylated DNA and chromatin. IUBMB life. vol 62. issue 10. 2011-06-09. PMID:21031501. |
binding of the rett syndrome protein, mecp2, to methylated and unmethylated dna and chromatin. |
2011-06-09 |
2023-08-12 |
human |
| Jeffrey C Hansen, Rajarshi P Ghosh, Christopher L Woodcoc. Binding of the Rett syndrome protein, MeCP2, to methylated and unmethylated DNA and chromatin. IUBMB life. vol 62. issue 10. 2011-06-09. PMID:21031501. |
much attention has been focused on understanding mecp2 structure and function in the context of its role in rett syndrome, a severe neurodevelopmental disorder that afflicts one in 10,000-15,000 girls. |
2011-06-09 |
2023-08-12 |
human |
| Joao Noutel, Y Kate Hong, Byunghee Leu, Erin Kang, Chinfei Che. Experience-dependent retinogeniculate synapse remodeling is abnormal in MeCP2-deficient mice. Neuron. vol 70. issue 1. 2011-06-07. PMID:21482354. |
mutations in mecp2 underlie the neurodevelopmental disorder rett syndrome (rtt). |
2011-06-07 |
2023-08-12 |
mouse |
| Saideh Rajaei, Anna Erlandson, Marten Kyllerman, Margareta Albage, Isa Lundstrom, Ewa-Lotta Karrstedt, Bengt Hagber. Early infantile onset ''congenital'' Rett syndrome variants: Swedish experience through four decades and mutation analysis. Journal of child neurology. vol 26. issue 1. 2011-05-25. PMID:21212452. |
of interest, we found a large deletion covering 2 exons in mecp2, which underlines the importance of mecp2 mutation screening even for the ''atypical'' early infantile onset variants of rett syndrome. |
2011-05-25 |
2023-08-12 |
Not clear |
| Eun Young Lee, Hee-Jung Chung, Chang-Seok Ki, Jong-Ha Yoo, Jong Rak Cho. A novel mutation in the MECP2 gene in a Korean patient with Rett syndrome. Annals of clinical and laboratory science. vol 41. issue 1. 2011-05-25. PMID:21325263. |
a novel mutation in the mecp2 gene in a korean patient with rett syndrome. |
2011-05-25 |
2023-08-12 |
Not clear |
| Saya Shirai, Kenta Takahashi, Shinji Kohsaka, Tetsu Tsukamoto, Hiroshi Isogai, Shinichi Kudo, Hirofumi Sawa, Kazuo Nagashima, Shinya Tanak. High expression of MeCP2 in JC virus-infected cells of progressive multifocal leukoencephalopathy brains. Neuropathology : official journal of the Japanese Society of Neuropathology. vol 31. issue 1. 2011-05-03. PMID:20497345. |
mutations of the methyl cpg binding protein 2 (mecp2) gene are a major cause of rett syndrome. |
2011-05-03 |
2023-08-12 |
Not clear |
| Katelin F Hansen, Kensuke Sakamoto, Gary A Wayman, Soren Impey, Karl Obrieta. Transgenic miR132 alters neuronal spine density and impairs novel object recognition memory. PloS one. vol 5. issue 11. 2011-04-27. PMID:21124738. |
additionally, mir132 transgenic mice exhibited a decrease in the expression of mecp2, a protein implicated in rett syndrome and other disorders of mental retardation. |
2011-04-27 |
2023-08-12 |
mouse |
| Nicholas L Adkins, Philippe T George. MeCP2: structure and function. Biochemistry and cell biology = Biochimie et biologie cellulaire. vol 89. issue 1. 2011-04-19. PMID:21326358. |
we specifically focused on mecp2's role in rett syndrome, a neurological disorder associated with specific mecp2 mutations. |
2011-04-19 |
2023-08-12 |
Not clear |
| Teresa Temudo, Mónica Santos, Elisabete Ramos, Karin Dias, José Pedro Vieira, Ana Moreira, Eulália Calado, Inês Carrilho, Guiomar Oliveira, António Levy, Clara Barbot, Maria Fonseca, Alexandra Cabral, Pedro Cabral, José Monteiro, Luís Borges, Roseli Gomes, Graça Mira, Susana Aires Pereira, Manuela Santos, Anabela Fernandes, Jorg T Epplen, Jorge Sequeiros, Patrícia Macie. Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes. Brain & development. vol 33. issue 1. 2011-04-11. PMID:20116947. |
rett syndrome with and without detected mecp2 mutations: an attempt to redefine phenotypes. |
2011-04-11 |
2023-08-12 |
Not clear |
| Teresa Temudo, Mónica Santos, Elisabete Ramos, Karin Dias, José Pedro Vieira, Ana Moreira, Eulália Calado, Inês Carrilho, Guiomar Oliveira, António Levy, Clara Barbot, Maria Fonseca, Alexandra Cabral, Pedro Cabral, José Monteiro, Luís Borges, Roseli Gomes, Graça Mira, Susana Aires Pereira, Manuela Santos, Anabela Fernandes, Jorg T Epplen, Jorge Sequeiros, Patrícia Macie. Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes. Brain & development. vol 33. issue 1. 2011-04-11. PMID:20116947. |
the aims of this study were (1) to define the clinical differences existing between patients with rett syndrome with (group i) and without a mecp2 mutation (group ii), and (2) to characterize the phenotypes associated with the more common mecp2 mutations. |
2011-04-11 |
2023-08-12 |
Not clear |
| Jing-jing Zhang, Xin-hua Ba. [Research progress of Rett syndrome causing gene MECP2--the structure, function and modulation of MECP2]. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences. vol 41. issue 6. 2011-03-29. PMID:20019788. |
[research progress of rett syndrome causing gene mecp2--the structure, function and modulation of mecp2]. |
2011-03-29 |
2023-08-12 |
human |
| Jing-jing Zhang, Xin-hua Ba. [Research progress of Rett syndrome causing gene MECP2--the structure, function and modulation of MECP2]. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences. vol 41. issue 6. 2011-03-29. PMID:20019788. |
rett syndrome (rtt), an x-linked dominant neurodevelopmental disorder characterized by regression of language, stereotype hand movement and loss of purposeful hand use, is primarily caused by mutation of menthyl-cpg-binding protein 2 (mecp2). |
2011-03-29 |
2023-08-12 |
human |
| Gaston Calfa, Alan K Percy, Lucas Pozzo-Mille. Experimental models of Rett syndrome based on Mecp2 dysfunction. Experimental biology and medicine (Maywood, N.J.). vol 236. issue 1. 2011-03-04. PMID:21239731. |
experimental models of rett syndrome based on mecp2 dysfunction. |
2011-03-04 |
2023-08-12 |
mouse |
| Gaston Calfa, Alan K Percy, Lucas Pozzo-Mille. Experimental models of Rett syndrome based on Mecp2 dysfunction. Experimental biology and medicine (Maywood, N.J.). vol 236. issue 1. 2011-03-04. PMID:21239731. |
rett syndrome (rtt) is a neurodevelopmental disorder predominantly occurring in females with an incidence of 1:10,000 births and caused by sporadic mutations in the mecp2 gene, which encodes methyl-cpg-binding protein-2, an epigenetic transcription factor that binds methylated dna. |
2011-03-04 |
2023-08-12 |
mouse |
| Nourhene Fendri-Kriaa, Emna Mkaouar-Rebai, Dorsaf Moalla, Neila Belguith, Nacim Louhichi, Ramzi Zemni, Foued Slama, Chahnez Triki, Faiza Fakhfak. Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation. Journal of child neurology. vol 25. issue 8. 2011-02-22. PMID:20631224. |
mutational analysis of the mecp2 gene in tunisian patients with rett syndrome: a novel double mutation. |
2011-02-22 |
2023-08-12 |
Not clear |
| Nourhene Fendri-Kriaa, Emna Mkaouar-Rebai, Dorsaf Moalla, Neila Belguith, Nacim Louhichi, Ramzi Zemni, Foued Slama, Chahnez Triki, Faiza Fakhfak. Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation. Journal of child neurology. vol 25. issue 8. 2011-02-22. PMID:20631224. |
in this study, we reported mutations in the mecp2 gene in 7 tunisian patients with classic rett syndrome. |
2011-02-22 |
2023-08-12 |
Not clear |
| Yasunori Okabe, Akira Kusaga, Tomoyuki Takahashi, Chiaki Mitsumasu, Yoshinaka Murai, Eiichiro Tanaka, Hideho Higashi, Toyojiro Matsuishi, Ken-ichiro Kosa. Neural development of methyl-CpG-binding protein 2 null embryonic stem cells: a system for studying Rett syndrome. Brain research. vol 1360. 2011-02-03. PMID:20816763. |
mutations in methyl-cpg-binding protein 2 (mecp2) gene cause the neurodevelopmental disorder rett syndrome (rtt). |
2011-02-03 |
2023-08-12 |
Not clear |
| M Kron, M Mülle. Impaired hippocampal Ca2+ homeostasis and concomitant K+ channel dysfunction in a mouse model of Rett syndrome during anoxia. Neuroscience. vol 171. issue 1. 2011-02-02. PMID:20732392. |
methyl-cpg-binding protein 2 (mecp2) deficiency causes rett syndrome (rtt), a neurodevelopmental disorder characterized by severe cognitive impairment, synaptic dysfunction, and hyperexcitability. |
2011-02-02 |
2023-08-12 |
mouse |