All Relations between Rett Syndrome and mecp2

Publication Sentence Publish Date Extraction Date Species
Maria Chahrour, Sung Yun Jung, Chad Shaw, Xiaobo Zhou, Stephen T C Wong, Jun Qin, Huda Y Zoghb. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science (New York, N.Y.). vol 320. issue 5880. 2008-06-27. PMID:18511691. mutations in the gene encoding the transcriptional repressor methyl-cpg binding protein 2 (mecp2) cause the neurodevelopmental disorder rett syndrome. 2008-06-27 2023-08-12 mouse
Denis G M Jugloff, Katrina Vandamme, Richard Logan, Naomi P Visanji, Jonathan M Brotchie, James H Eubank. Targeted delivery of an Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2-deficient mice. Human molecular genetics. vol 17. issue 10. 2008-06-23. PMID:18223199. rett syndrome is an x-linked neurological condition affecting almost exclusively girls that is caused by mutations of the mecp2 gene. 2008-06-23 2023-08-12 mouse
Denis G M Jugloff, Katrina Vandamme, Richard Logan, Naomi P Visanji, Jonathan M Brotchie, James H Eubank. Targeted delivery of an Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2-deficient mice. Human molecular genetics. vol 17. issue 10. 2008-06-23. PMID:18223199. however, as the brain of a rett girl contains a mosaic of mecp2 expressing and non-expressing neurons, and the over-expression of mecp2 in neurons can induce a severe progressive neurological phenotype, testing whether functional rescue can be achieved by gene re-introduction strategies in a female model of rett syndrome is warranted. 2008-06-23 2023-08-12 mouse
M I Tejad. [Rett syndrome: a diagnostic, clinical and molecular update]. Revista de neurologia. vol 42 Suppl 1. 2008-06-17. PMID:16506134. rett syndrome (rs) was first reported in 1966 and in 1999 it was discovered that it was associated to mutations in the mecp2 gene. 2008-06-17 2023-08-12 human
Ralf S Schmid, Naomi Tsujimoto, Qiang Qu, Hong Lei, En Li, Taiping Chen, Cecile Spielewoy Blaustei. A methyl-CpG-binding protein 2-enhanced green fluorescent protein reporter mouse model provides a new tool for studying the neuronal basis of Rett syndrome. Neuroreport. vol 19. issue 4. 2008-06-13. PMID:18287934. rett syndrome, a pervasive x-linked neurodevelopmental disorder in young girls, is caused by loss-of-function mutations in the gene that encodes the transcriptional repressor methyl-cpg-binding protein 2 (mecp2). 2008-06-13 2023-08-12 mouse
Ralf S Schmid, Naomi Tsujimoto, Qiang Qu, Hong Lei, En Li, Taiping Chen, Cecile Spielewoy Blaustei. A methyl-CpG-binding protein 2-enhanced green fluorescent protein reporter mouse model provides a new tool for studying the neuronal basis of Rett syndrome. Neuroreport. vol 19. issue 4. 2008-06-13. PMID:18287934. mecp2-knockout mice phenocopy the major symptoms found in human patients and have advanced our understanding of the function of mecp2 and mechanism of rett syndrome. 2008-06-13 2023-08-12 mouse
Liron Abuhatzira, Kirill Makedonski, Yotam Kaufman, Aharon Razin, Ruth Sheme. MeCP2 deficiency in the brain decreases BDNF levels by REST/CoREST-mediated repression and increases TRKB production. Epigenetics. vol 2. issue 4. 2008-06-10. PMID:18075316. rett syndrome (rtt) is a neurodevelopmental disorder, caused by mutations in the x-linked methyl cpg binding protein 2 gene (mecp2). 2008-06-10 2023-08-12 mouse
Matilde Marchi, Alessia Guarda, Anna Bergo, Nicoletta Landsberger, Charlotte Kilstrup-Nielsen, Gian Michele Ratto, Mario Cost. Spatio-temporal dynamics and localization of MeCP2 and pathological mutants in living cells. Epigenetics. vol 2. issue 3. 2008-05-19. PMID:17965612. the protein mecp2 (methyl cpg-binding protein) is an abundant component of pericentric heterochromatin and its mutations or duplications are present in around 80% of patients with a neurological disorder known as rett syndrome. 2008-05-19 2023-08-12 Not clear
Matilde Marchi, Alessia Guarda, Anna Bergo, Nicoletta Landsberger, Charlotte Kilstrup-Nielsen, Gian Michele Ratto, Mario Cost. Spatio-temporal dynamics and localization of MeCP2 and pathological mutants in living cells. Epigenetics. vol 2. issue 3. 2008-05-19. PMID:17965612. our data suggest that alterations in the affinity of mecp2 for chromatin might contribute to the pathological effects of mutations causing rett syndrome. 2008-05-19 2023-08-12 Not clear
J L Neul, P Fang, J Barrish, J Lane, E B Caeg, E O Smith, H Zoghbi, A Percy, D G Glaz. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. vol 70. issue 16. 2008-05-12. PMID:18337588. to determine if a relationship exists between the clinical features of rett syndrome, an x-linked dominant neurodevelopmental disorder, and specific mutations in mecp2. 2008-05-12 2023-08-12 Not clear
Tasuku Nomura, Mika Kimura, Takuro Horii, Sumiyo Morita, Hidenobu Soejima, Shinichi Kudo, Izuho Hatad. MeCP2-dependent repression of an imprinted miR-184 released by depolarization. Human molecular genetics. vol 17. issue 8. 2008-04-21. PMID:18203756. dna methylation is also involved in synaptic plasticity since methyl cpg-binding protein 2 (mecp2) is mutated in patients with rett syndrome. 2008-04-21 2023-08-12 Not clear
Nadia P Belichenko, Pavel V Belichenko, Hong Hua Li, William C Mobley, Uta Franck. Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndrome. The Journal of comparative neurology. vol 508. issue 1. 2008-04-17. PMID:18306326. comparative study of brain morphology in mecp2 mutant mouse models of rett syndrome. 2008-04-17 2023-08-12 mouse
Nadia P Belichenko, Pavel V Belichenko, Hong Hua Li, William C Mobley, Uta Franck. Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndrome. The Journal of comparative neurology. vol 508. issue 1. 2008-04-17. PMID:18306326. rett syndrome (rtt) is caused by mutations in the x-linked gene mecp2. 2008-04-17 2023-08-12 mouse
Liang Zhang, Jiwei He, Denis G M Jugloff, James H Eubank. The MeCP2-null mouse hippocampus displays altered basal inhibitory rhythms and is prone to hyperexcitability. Hippocampus. vol 18. issue 3. 2008-03-27. PMID:18058824. rett syndrome is an autism-spectrum disorder caused by loss of function mutations within the gene encoding methyl cpg-binding protein 2 (mecp2). 2008-03-27 2023-08-12 mouse
L Medrihan, E Tantalaki, G Aramuni, V Sargsyan, I Dudanova, M Missler, W Zhan. Early defects of GABAergic synapses in the brain stem of a MeCP2 mouse model of Rett syndrome. Journal of neurophysiology. vol 99. issue 1. 2008-03-24. PMID:18032561. early defects of gabaergic synapses in the brain stem of a mecp2 mouse model of rett syndrome. 2008-03-24 2023-08-12 mouse
L Medrihan, E Tantalaki, G Aramuni, V Sargsyan, I Dudanova, M Missler, W Zhan. Early defects of GABAergic synapses in the brain stem of a MeCP2 mouse model of Rett syndrome. Journal of neurophysiology. vol 99. issue 1. 2008-03-24. PMID:18032561. rett syndrome is a neurodevelopmental disorder caused by mutations in the transcriptional repressor methyl-cpg-binding protein 2 (mecp2) and represents the leading genetic cause for mental retardation in girls. 2008-03-24 2023-08-12 mouse
S Takahashi, J Ohinata, Y Makita, N Suzuki, A Araki, A Sasaki, K Murono, H Tanaka, K Fujied. Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome. Clinical genetics. vol 73. issue 3. 2008-03-13. PMID:18190595. skewed x chromosome inactivation failed to explain the normal phenotype of a carrier female with mecp2 mutation resulting in rett syndrome. 2008-03-13 2023-08-12 Not clear
S Takahashi, J Ohinata, Y Makita, N Suzuki, A Araki, A Sasaki, K Murono, H Tanaka, K Fujied. Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome. Clinical genetics. vol 73. issue 3. 2008-03-13. PMID:18190595. mutations in the x-linked mecp2 gene cause rett syndrome, a neurodevelopmental disorder that exclusively affects girls. 2008-03-13 2023-08-12 Not clear
S Takahashi, J Ohinata, Y Makita, N Suzuki, A Araki, A Sasaki, K Murono, H Tanaka, K Fujied. Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome. Clinical genetics. vol 73. issue 3. 2008-03-13. PMID:18190595. females with the mecp2 mutations exhibit a broad spectrum of clinical presentations ranging from classical rett syndrome to asymptomatic carriers, which can be explained by differences in x chromosome inactivation (xci). 2008-03-13 2023-08-12 Not clear
S Takahashi, J Ohinata, Y Makita, N Suzuki, A Araki, A Sasaki, K Murono, H Tanaka, K Fujied. Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome. Clinical genetics. vol 73. issue 3. 2008-03-13. PMID:18190595. here, we report a family with a girl with rett syndrome in whom a novel missense mutation in the mecp2 gene was transmitted through the maternal germ line. 2008-03-13 2023-08-12 Not clear