| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Adrian Bir. The methyl-CpG-binding protein MeCP2 and neurological disease. Biochemical Society transactions. vol 36. issue Pt 4. 2008-09-25. PMID:18631120. |
mutations in the human mecp2 gene cause the autism spectrum disorder rett syndrome. |
2008-09-25 |
2023-08-12 |
mouse |
| Adrian Bir. The methyl-CpG-binding protein MeCP2 and neurological disease. Biochemical Society transactions. vol 36. issue Pt 4. 2008-09-25. PMID:18631120. |
surprisingly, these symptoms are efficiently reversed by delayed activation of a 'stopped' mecp2 gene, raising hopes that human rett syndrome may also be reversible. |
2008-09-25 |
2023-08-12 |
mouse |
| Deidra J Young, Ami Bebbington, Alison Anderson, David Ravine, Carolyn Ellaway, Alpana Kulkarni, Nick de Klerk, Walter E Kaufmann, Helen Leonar. The diagnosis of autism in a female: could it be Rett syndrome? European journal of pediatrics. vol 167. issue 6. 2008-09-09. PMID:17684768. |
the aims of this study were to compare the early and subsequent clinical courses of female subjects with rett syndrome categorised by whether or not a diagnosis of autism had been proposed before rett syndrome had been diagnosed and compare the spectrum of methyl-cpg binding protein 2 (mecp2) mutations identified among the two groups. |
2008-09-09 |
2023-08-12 |
human |
| Deidra J Young, Ami Bebbington, Alison Anderson, David Ravine, Carolyn Ellaway, Alpana Kulkarni, Nick de Klerk, Walter E Kaufmann, Helen Leonar. The diagnosis of autism in a female: could it be Rett syndrome? European journal of pediatrics. vol 167. issue 6. 2008-09-09. PMID:17684768. |
females with the p.r306c or p.t158m mutations in the mecp2 gene were more likely to have an initial diagnosis of autism, and the specific rett syndrome symptoms were noted at a later age. |
2008-09-09 |
2023-08-12 |
human |
| Rajarshi P Ghosh, Rachel A Horowitz-Scherer, Tatiana Nikitina, Lila M Gierasch, Christopher L Woodcoc. Rett syndrome-causing mutations in human MeCP2 result in diverse structural changes that impact folding and DNA interactions. The Journal of biological chemistry. vol 283. issue 29. 2008-09-03. PMID:18499664. |
most cases of rett syndrome (rtt) are caused by mutations in the methylated dna-binding protein, mecp2. |
2008-09-03 |
2023-08-12 |
human |
| Joseph R Kurian, Meaghan E Bychowski, Robin M Forbes-Lorman, Catherine J Auger, Anthony P Auge. Mecp2 organizes juvenile social behavior in a sex-specific manner. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 28. issue 28. 2008-08-12. PMID:18614683. |
mutations of the mecp2 gene can cause rett syndrome, whereas subtle reductions of mecp2 expression may be associated with male-dominated social and neurodevelopmental disorders. |
2008-08-12 |
2023-08-12 |
Not clear |
| Yoshimi Tsuda, Toshiaki Hashimoto, Kenji Mori, Hiromichi Ito, Mio Nishimura, Aya Fukumoto, Ikuko Kond. [Neuroradiological studies in Rett syndrome]. No to hattatsu = Brain and development. vol 40. issue 4. 2008-08-12. PMID:18634417. |
three of the 4 cases were diagnosed as rett syndrome by gene analysis of mecp2. |
2008-08-12 |
2023-08-12 |
Not clear |
| Julie Miralvès, Eddy Magdeleine, Lara Kaddoum, Hélène Brun, Sophie Peries, Etienne Jol. High levels of MeCP2 depress MHC class I expression in neuronal cells. PloS one. vol 2. issue 12. 2008-08-08. PMID:18159237. |
mecp2 is a transcriptional repressor that binds to methylated cpg dinucleotides; mutations in this protein also cause the neurodevelopmental disease called rett syndrome. |
2008-08-08 |
2023-08-12 |
Not clear |
| Julie Miralvès, Eddy Magdeleine, Lara Kaddoum, Hélène Brun, Sophie Peries, Etienne Jol. High levels of MeCP2 depress MHC class I expression in neuronal cells. PloS one. vol 2. issue 12. 2008-08-08. PMID:18159237. |
because mhc class i molecules play a role in neuronal connectivity, we hypothesised that mecp2 might repress mhc class i expression in the cns and that this might play a role in the pathology of rett syndrome. |
2008-08-08 |
2023-08-12 |
Not clear |
| Amy Palmer, Jibran Qayumi, Gabriele Ronnet. MeCP2 mutation causes distinguishable phases of acute and chronic defects in synaptogenesis and maintenance, respectively. Molecular and cellular neurosciences. vol 37. issue 4. 2008-08-04. PMID:18295506. |
over 200 mutations in the gene encoding methyl-cpg-binding protein 2 (mecp2) are known to cause rett syndrome (rtt), a multiphasic neurodevelopmental disorder that results in motor and cognitive impairments; however, little is known about the neurobiology of rtt. |
2008-08-04 |
2023-08-12 |
mouse |
| Asmita Kumar, Sachin Kamboj, Barbara M Malone, Shinichi Kudo, Jeffery L Twiss, Kirk J Czymmek, Janine M LaSalle, N Carolyn Schane. Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo. Journal of cell science. vol 121. issue Pt 7. 2008-07-31. PMID:18334558. |
analysis of protein domains and rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein mecp2 in vivo. |
2008-07-31 |
2023-08-12 |
Not clear |
| Asmita Kumar, Sachin Kamboj, Barbara M Malone, Shinichi Kudo, Jeffery L Twiss, Kirk J Czymmek, Janine M LaSalle, N Carolyn Schane. Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo. Journal of cell science. vol 121. issue Pt 7. 2008-07-31. PMID:18334558. |
here, we apply photobleaching strategies within the nucleus using domain-deleted mecp2 proteins as well as naturally occurring point mutations identified in individuals with the neurodevelopmental disorder rett syndrome (rtt). |
2008-07-31 |
2023-08-12 |
Not clear |
| Jing Jin, Xinhua Bao, Hansen Wang, Hong Pan, Yuzhi Zhang, Xiru W. RNAi-induced down-regulation of Mecp2 expression in the rat brain. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. vol 26. issue 5. 2008-07-31. PMID:18396005. |
the mecp2 (methyl-cpg-binding protein 2) gene has been implicated in the pathogenesis of rett syndrome. |
2008-07-31 |
2023-08-12 |
rat |
| B C Ward, S Agarwal, K Wang, J Berger-Sweeney, N H Kolodn. Longitudinal brain MRI study in a mouse model of Rett Syndrome and the effects of choline. Neurobiology of disease. vol 31. issue 1. 2008-07-29. PMID:18571096. |
rett syndrome (rtt), the second most common cause of mental retardation in girls, is associated with mutations of an x-linked gene encoding the transcriptional repressor protein mecp2. |
2008-07-29 |
2023-08-12 |
mouse |
| Francesca Ariani, Giuseppe Hayek, Dalila Rondinella, Rosangela Artuso, Maria Antonietta Mencarelli, Ariele Spanhol-Rosseto, Marzia Pollazzon, Sabrina Buoni, Ottavia Spiga, Sara Ricciardi, Ilaria Meloni, Ilaria Longo, Francesca Mari, Vania Broccoli, Michele Zappella, Alessandra Renier. FOXG1 is responsible for the congenital variant of Rett syndrome. American journal of human genetics. vol 83. issue 1. 2008-07-29. PMID:18571142. |
rett syndrome is a severe neurodevelopmental disease caused by mutations in the x-linked gene encoding for the methyl-cpg-binding protein mecp2. |
2008-07-29 |
2023-08-12 |
Not clear |
| T Temud. [Movement disorders in Rett syndrome]. Revista de neurologia. vol 40 Suppl 1. 2008-07-15. PMID:15736081. |
rett syndrome is a progressive neurodevelopmental disorder with onset in early childhood occurring almost exclusively in females and caused by mutations in methyl-cpg- binding protein 2 (mecp2) and is one of the most frequent causes of mental retardation in females. |
2008-07-15 |
2023-08-12 |
Not clear |
| Rodney C Samaco, John D Fryer, Jun Ren, Sharyl Fyffe, Hsiao-Tuan Chao, Yaling Sun, John J Greer, Huda Y Zoghbi, Jeffrey L Neu. A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Human molecular genetics. vol 17. issue 12. 2008-07-07. PMID:18321864. |
rett syndrome, an x-linked dominant neurodevelopmental disorder characterized by regression of language and hand use, is primarily caused by mutations in methyl-cpg-binding protein 2 (mecp2). |
2008-07-07 |
2023-08-12 |
mouse |
| Bredford Kerr, Matías Alvarez-Saavedra, Mauricio A Sáez, Alexandra Saona, Juan I Youn. Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice. Human molecular genetics. vol 17. issue 12. 2008-07-07. PMID:18321865. |
mutations in mecp2 cause rett syndrome, a severe neurological disorder that affects approximately 1:10 000 females. |
2008-07-07 |
2023-08-12 |
mouse |
| Bredford Kerr, Matías Alvarez-Saavedra, Mauricio A Sáez, Alexandra Saona, Juan I Youn. Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice. Human molecular genetics. vol 17. issue 12. 2008-07-07. PMID:18321865. |
mice lacking mecp2 have been generated and constitute important models of rett syndrome. |
2008-07-07 |
2023-08-12 |
mouse |
| J Nectoux, N Bahi-Buisson, I Guellec, J Coste, N De Roux, H Rosas, M Tardieu, J Chelly, T Bienven. The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome. Neurology. vol 70. issue 22 Pt 2. 2008-07-01. PMID:18434641. |
x chromosome inactivation and the mecp2 genotype do not provide the full explanations for the clinical differences between patients with rett syndrome (rtt), suggesting the involvement of other factors. |
2008-07-01 |
2023-08-12 |
Not clear |