| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Noriyuki Kishi, Jeffrey D Mackli. Dissecting MECP2 function in the central nervous system. Journal of child neurology. vol 20. issue 9. 2005-12-06. PMID:16225831. |
in 1999, mutation of the methyl-cpg binding protein 2 (mecp2) gene encoding a transcriptional repressor on the x chromosome was found to cause rett syndrome. |
2005-12-06 |
2023-08-12 |
mouse |
| Michael V Johnston, Mary E Blue, Sakkubai Naid. Rett syndrome and neuronal development. Journal of child neurology. vol 20. issue 9. 2005-12-06. PMID:16225832. |
mecp2, the protein that is abnormal in most female individuals with rett syndrome, is expressed predominantly in neurons and appears during development at the time of synapse formation. |
2005-12-06 |
2023-08-12 |
human |
| Andrea L Ham, Asmita Kumar, Rose Deeter, N Carolyn Schane. Does genotype predict phenotype in Rett syndrome? Journal of child neurology. vol 20. issue 9. 2005-12-06. PMID:16225834. |
mutations in the x-linked gene encoding the methyl-cpg binding protein mecp2 are the primary cause of classic and atypical rett syndrome and have recently been shown to contribute to other neurodevelopmental disorders of varying severity. |
2005-12-06 |
2023-08-12 |
Not clear |
| Ruthie E Amir, V Reid Sutton, Ignatia B Van den Veyve. Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapy. Journal of child neurology. vol 20. issue 9. 2005-12-06. PMID:16225835. |
diagnostic testing for mutations or large genomic rearrangements involving methyl-cpg binding protein 2 gene (mecp2) is highly sensitive and identifies mutations in up to 95% of female individuals with classic rett syndrome. |
2005-12-06 |
2023-08-12 |
Not clear |
| Ulrike A Nuber, Skirmantas Kriaucionis, Tim C Roloff, Jacky Guy, Jim Selfridge, Christine Steinhoff, Ralph Schulz, Bettina Lipkowitz, H Hilger Ropers, Megan C Holmes, Adrian Bir. Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome. Human molecular genetics. vol 14. issue 15. 2005-12-01. PMID:16002417. |
rett syndrome (rtt) is a severe form of mental retardation, which is caused by spontaneous mutations in the x-linked gene mecp2. |
2005-12-01 |
2023-08-12 |
mouse |
| Julie Gauthier, Giovana de Amorim, Gevork N Mnatzakanian, Carol Saunders, John B Vincent, Sylvie Toupin, David Kauffman, Judith St-Onge, Sandra Laurent, Patrick M Macleod, Berge A Minassian, Guy A Roulea. Clinical stringency greatly improves mutation detection in Rett syndrome. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. vol 32. issue 3. 2005-11-30. PMID:16225173. |
rett syndrome (rtt) is a severe neurodevelopmental disorder of girls, caused by mutations in the x-linked mecp2 gene. |
2005-11-30 |
2023-08-12 |
Not clear |
| Tatsuo Masuyama, Muneaki Matsuo, Jin J Jing, Yasuharu Tabara, Kyoko Kitsuki, Hidehisa Yamagata, Yuka Kan, Tetsuro Miki, Kiyohisa Ishii, Ikuko Kond. Classic Rett syndrome in a boy with R133C mutation of MECP2. Brain & development. vol 27. issue 6. 2005-11-10. PMID:16122633. |
classic rett syndrome in a boy with r133c mutation of mecp2. |
2005-11-10 |
2023-08-12 |
Not clear |
| Tatsuo Masuyama, Muneaki Matsuo, Jin J Jing, Yasuharu Tabara, Kyoko Kitsuki, Hidehisa Yamagata, Yuka Kan, Tetsuro Miki, Kiyohisa Ishii, Ikuko Kond. Classic Rett syndrome in a boy with R133C mutation of MECP2. Brain & development. vol 27. issue 6. 2005-11-10. PMID:16122633. |
about 80% of female patients with rett syndrome (rtt) display a mutation in the methyl-cpg-binding protein 2 (mecp2) gene, but most males with mecp2 mutation experience severe fatal encephalopathy or non-specific x-linked mental retardation (xlmr). |
2005-11-10 |
2023-08-12 |
Not clear |
| Tony Charman, Tracey C S Neilson, Veronica Mash, Hayley Archer, Mary T Gardiner, Gun P S Knudsen, Aoibhinn McDonnell, Jacqueline Perry, Sharon D Whatley, David J Bunyan, Kirstine Ravn, Rebecca H Mount, Richard P Hastings, Maj Hulten, Karen Helene Orstavik, Sheena Reilly, Hilary Cass, Angus Clarke, Alison M Kerr, Mark E S Baile. Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. European journal of human genetics : EJHG. vol 13. issue 10. 2005-11-08. PMID:16077736. |
we aimed to improve the understanding of genotype-phenotype correlations in rett syndrome (rs) by adopting a novel approach to categorising phenotypic dimensions - separating typicality of presentation, outcome severity and age of onset - and by classifying mecp2 mutations strictly by predicted functional attributes. |
2005-11-08 |
2023-08-12 |
Not clear |
| Jordanka Zlatanov. MeCP2: the chromatin connection and beyond. Biochemistry and cell biology = Biochimie et biologie cellulaire. vol 83. issue 3. 2005-10-24. PMID:15959553. |
the interest in mecp2 dramatically increased following the discovery of mutated forms of the protein in patients with rett syndrome, a neurodevelopmental disease. |
2005-10-24 |
2023-08-12 |
human |
| Peter Huppke, Andreas Ohlenbusch, Cornelia Brendel, Franco Laccone, Jutta Gärtne. Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2. American journal of medical genetics. Part A. vol 137. issue 2. 2005-10-17. PMID:16086395. |
mutation analysis of the hdac 1, 2, 8 and cdkl5 genes in rett syndrome patients without mutations in mecp2. |
2005-10-17 |
2023-08-12 |
Not clear |
| Peter Huppke, Andreas Ohlenbusch, Cornelia Brendel, Franco Laccone, Jutta Gärtne. Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2. American journal of medical genetics. Part A. vol 137. issue 2. 2005-10-17. PMID:16086395. |
mutations in the mecp2 gene are found in only 80% of patients with rett syndrome (rtt). |
2005-10-17 |
2023-08-12 |
Not clear |
| Vardhan S Dani, Qiang Chang, Arianna Maffei, Gina G Turrigiano, Rudolf Jaenisch, Sacha B Nelso. Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome. Proceedings of the National Academy of Sciences of the United States of America. vol 102. issue 35. 2005-10-13. PMID:16116096. |
rett syndrome (rtt) is a devastating neurological disorder that is caused by mutations in the mecp2 gene. |
2005-10-13 |
2023-08-12 |
mouse |
| Catherine M Watson, Gregory J Pelka, Tatiana Radziewic, Mona D Shahbazian, John Christodoulou, Sarah L Williamson, Patrick P L Ta. Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation. Human molecular genetics. vol 14. issue 13. 2005-10-11. PMID:15888476. |
rett syndrome (rtt) is an x-linked disorder caused by mutations in the methyl cpg binding protein 2 (mecp2) gene. |
2005-10-11 |
2023-08-12 |
mouse |
| Robert J Klose, Shireen A Sarraf, Lars Schmiedeberg, Suzanne M McDermott, Irina Stancheva, Adrian P Bir. DNA binding selectivity of MeCP2 due to a requirement for A/T sequences adjacent to methyl-CpG. Molecular cell. vol 19. issue 5. 2005-10-06. PMID:16137622. |
the unexpected restriction of mecp2 to a defined subset of methyl-cpg sites will facilitate identification of genomic targets that are relevant to rett syndrome. |
2005-10-06 |
2023-08-12 |
human |
| Alan K Percy, Jane B Lan. Rett syndrome: clinical and molecular update. Current opinion in pediatrics. vol 16. issue 6. 2005-09-22. PMID:15548931. |
new information on the clinical and molecular aspects of rett syndrome has emerged at an accelerated pace since the identification of mutations in methyl-cpg-binding protein 2 gene (mecp2) was first reported in 1999. |
2005-09-22 |
2023-08-12 |
Not clear |
| Hong Li, Takanori Yamagata, Masato Mori, Akihiro Yasuhara, Mariko Y Momo. Mutation analysis of methyl-CpG binding protein family genes in autistic patients. Brain & development. vol 27. issue 5. 2005-09-22. PMID:15967618. |
methyl-cpg binding protein 2 gene (mecp2), the gene implicated in rett syndrome, was also reported to be involved in mental retardation and autism. |
2005-09-22 |
2023-08-12 |
Not clear |
| Walter E Kaufmann, Mohammed H Jarrar, Judy S Wang, Ye-Jin M Lee, Sriram Reddy, Genila Bibat, Sakkubai Naid. Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation. Brain & development. vol 27. issue 5. 2005-09-22. PMID:16023547. |
most cases of rett syndrome (rtt) are associated with mutations in the coding region of the transcriptional regulator mecp2. |
2005-09-22 |
2023-08-12 |
human |
| Guoping Fan, Leah Hutnic. Methyl-CpG binding proteins in the nervous system. Cell research. vol 15. issue 4. 2005-09-13. PMID:15857580. |
mutations in methyl-cpg binding protein 2 (mecp2) have been linked to the human mental retardation disorder rett syndrome, suggesting an important role for methyl-cpg binding proteins in brain development and function. |
2005-09-13 |
2023-08-12 |
human |
| Violaine Bourdon, Christophe Philippe, Dominique Martin, Alain Verloès, Agnès Grandemenge, Philippe Jonveau. MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications. Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology. vol 7. issue 1. 2005-09-08. PMID:14529314. |
among the well characterized x-linked conditions causing mental retardation, mutations in the methyl-cpg-binding protein 2 gene (mecp2) in xq28 have been found in up to 85% of patients with rett syndrome, a neurologic disorder which, in addition to other symptoms, severely affects higher cognitive functions in females. |
2005-09-08 |
2023-08-12 |
Not clear |