| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Sarojini S Budden, Michele E Gunnes. Possible mechanisms of osteopenia in Rett syndrome: bone histomorphometric studies. Journal of child neurology. vol 18. issue 10. 2004-02-11. PMID:14649552. |
perhaps mecp2 mutations in rett syndrome not only influence brain development but also affect bone formation. |
2004-02-11 |
2023-08-12 |
Not clear |
| Michele Zappella, Ilaria Meloni, Ilaria Longo, Roberto Canitano, Giuseppe Hayek, Lucia Rosaia, Francesca Mari, Alessandra Renier. Study of MECP2 gene in Rett syndrome variants and autistic girls. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 119B. issue 1. 2004-02-06. PMID:12707946. |
study of mecp2 gene in rett syndrome variants and autistic girls. |
2004-02-06 |
2023-08-12 |
Not clear |
| Michele Zappella, Ilaria Meloni, Ilaria Longo, Roberto Canitano, Giuseppe Hayek, Lucia Rosaia, Francesca Mari, Alessandra Renier. Study of MECP2 gene in Rett syndrome variants and autistic girls. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 119B. issue 1. 2004-02-06. PMID:12707946. |
mutations in mecp2 gene account for approximately 80% of cases of rett syndrome (rtt), an x-linked severe developmental disorder affecting young girls, as well as for most cases of preserved speech variant (psv), a mild rtt variant in which autistic behavior is common. |
2004-02-06 |
2023-08-12 |
Not clear |
| Michele Zappella, Ilaria Meloni, Ilaria Longo, Roberto Canitano, Giuseppe Hayek, Lucia Rosaia, Francesca Mari, Alessandra Renier. Study of MECP2 gene in Rett syndrome variants and autistic girls. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 119B. issue 1. 2004-02-06. PMID:12707946. |
we conclude that mecp2 mutations (missense or late truncating) can be found in girls with an iq close to 45 and a clinical history of psv of rett syndrome. |
2004-02-06 |
2023-08-12 |
Not clear |
| William A Thistlethwaite, Linda M Moses, Kristen C Hoffbuhr, Joseph M Devaney, Eric P Hoffma. Rapid genotyping of common MeCP2 mutations with an electronic DNA microchip using serial differential hybridization. The Journal of molecular diagnostics : JMD. vol 5. issue 2. 2003-12-12. PMID:12707377. |
rett syndrome is a neurodevelopmental disorder that affects females almost exclusively, and in which eight common point mutations on the x-linked mecp2 gene are knows to cause over 70% of mutation-positive cases. |
2003-12-12 |
2023-08-12 |
Not clear |
| Wen G Chen, Qiang Chang, Yingxi Lin, Alexander Meissner, Anne E West, Eric C Griffith, Rudolf Jaenisch, Michael E Greenber. Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2. Science (New York, N.Y.). vol 302. issue 5646. 2003-12-08. PMID:14593183. |
mutations in mecp2, which encodes a protein that has been proposed to function as a global transcriptional repressor, are the cause of rett syndrome (rt t), an x-linked progressive neurological disorder. |
2003-12-08 |
2023-08-12 |
mouse |
| Keri Martinowich, Daisuke Hattori, Hao Wu, Shaun Fouse, Fei He, Yan Hu, Guoping Fan, Yi E Su. DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation. Science (New York, N.Y.). vol 302. issue 5646. 2003-12-08. PMID:14593184. |
changes in dna methylation perturb neuronal function, and mutations in a methyl-cpg-binding protein, mecp2, are associated with rett syndrome. |
2003-12-08 |
2023-08-12 |
Not clear |
| Irina Stancheva, Anne L Collins, Ingatia B Van den Veyver, Huda Zoghbi, Richard R Meeha. A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. Molecular cell. vol 12. issue 2. 2003-11-25. PMID:14536082. |
a mutant form of mecp2 protein associated with human rett syndrome cannot be displaced from methylated dna by notch in xenopus embryos. |
2003-11-25 |
2023-08-12 |
human |
| Irina Stancheva, Anne L Collins, Ingatia B Van den Veyver, Huda Zoghbi, Richard R Meeha. A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. Molecular cell. vol 12. issue 2. 2003-11-25. PMID:14536082. |
a truncated form of mecp2 (r168x) found in patients with rett syndrome cannot interact with the smrt complex or fully activate xhairy2a during primary neurogenesis. |
2003-11-25 |
2023-08-12 |
human |
| Fe Lobo-Menendez, Khalid Sossey-Alaoui, Jennifer M Bell, Susan A Copeland-Yates, Sara M Plank, Stewart O Sanford, Cindy Skinner, Richard J Simensen, Richard J Schroer, Ron C Michaeli. Absence of MeCP2 mutations in patients from the South Carolina autism project. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 117B. issue 1. 2003-11-06. PMID:12555243. |
the methyl-cpg binding protein 2 (mecp2) gene has recently been identified as the gene responsible for rett syndrome (rs), a pervasive developmental disorder considered by many to be one of the autism spectrum disorders. |
2003-11-06 |
2023-08-12 |
Not clear |
| Monica L Vette. Methylation gets SMRT. Functional insights into Rett syndrome. Developmental cell. vol 5. issue 3. 2003-10-23. PMID:12967552. |
rett syndrome, a neurodevelopmental disorder, is caused by mutations in the methyl-cpg binding protein mecp2. |
2003-10-23 |
2023-08-12 |
xenopus_laevis |
| Monica L Vette. Methylation gets SMRT. Functional insights into Rett syndrome. Developmental cell. vol 5. issue 3. 2003-10-23. PMID:12967552. |
rett syndrome mutations that disrupt interaction with the smrt corepressor complex also prevent regulation of mecp2 by activated notch. |
2003-10-23 |
2023-08-12 |
xenopus_laevis |
| Damina Balmer, Jared Goldstine, Y Manjula Rao, Janine M LaSall. Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation. Journal of molecular medicine (Berlin, Germany). vol 81. issue 1. 2003-10-02. PMID:12545250. |
rett syndrome is caused by mutations in mecp2 and characterized by arrested postnatal neurodevelopment. |
2003-10-02 |
2023-08-12 |
human |
| Damina Balmer, Jared Goldstine, Y Manjula Rao, Janine M LaSall. Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation. Journal of molecular medicine (Berlin, Germany). vol 81. issue 1. 2003-10-02. PMID:12545250. |
acquired elevated mecp2 expression in neurons beginning in infancy and progressing through childhood may explain the delayed onset and developmental arrest of rett syndrome |
2003-10-02 |
2023-08-12 |
human |
| Jeff Traynor, Priyanka Agarwal, Laura Lazzeroni, Uta Franck. Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations. BMC medical genetics. vol 3. 2003-09-30. PMID:12418965. |
gene expression patterns vary in clonal cell cultures from rett syndrome females with eight different mecp2 mutations. |
2003-09-30 |
2023-08-12 |
Not clear |
| Jeff Traynor, Priyanka Agarwal, Laura Lazzeroni, Uta Franck. Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations. BMC medical genetics. vol 3. 2003-09-30. PMID:12418965. |
females with the neurological disorder rett syndrome are heterozygous for mutations in x-linked mecp2 that encodes methyl-cpg binding protein 2 (mecp2) thought to act as a transcriptional repressor. |
2003-09-30 |
2023-08-12 |
Not clear |
| Peter Huppke, Melanie Held, Franco Laccone, Folker Hanefel. The spectrum of phenotypes in females with Rett Syndrome. Brain & development. vol 25. issue 5. 2003-09-24. PMID:12850514. |
since the discovery of mutations in the methyl-cpg binding protein-2 (mecp2) gene in rett syndrome (rtt) a large number of females have been diagnosed worldwide. |
2003-09-24 |
2023-08-12 |
Not clear |
| Francesca L Conforti, Rosalucia Mazzei, Angela Magariello, Alessandra Patitucci, Anna L Gabriele, Maria Muglia, Aldo Quattrone, Agata Fiumara, Rita Barone, Lorenzo Pavone, Rita Nisticò, Loredana Mangon. Mutation analysis of the MECP2 gene in patients with Rett syndrome. American journal of medical genetics. Part A. vol 117A. issue 2. 2003-08-07. PMID:12567420. |
mutation analysis of the mecp2 gene in patients with rett syndrome. |
2003-08-07 |
2023-08-12 |
Not clear |
| H Gill, J P Cheadle, J Maynard, N Fleming, S Whatley, T Cranston, E M Thompson, H Leonard, M Davis, J Christodoulou, O Skjeldal, F Hanefeld, A Kerr, A Tandy, D Ravine, A Clark. Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. Journal of medical genetics. vol 40. issue 5. 2003-08-05. PMID:12746405. |
mutation analysis in the mecp2 gene and genetic counselling for rett syndrome. |
2003-08-05 |
2023-08-12 |
Not clear |
| S Kudo, Y Nomura, M Segawa, N Fujita, M Nakao, C Schanen, M Tamur. Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain. Journal of medical genetics. vol 40. issue 7. 2003-08-05. PMID:12843318. |
rett syndrome is a neurodevelopmental disorder with severe mental retardation caused by mutations in the mecp2 gene. |
2003-08-05 |
2023-08-12 |
mouse |