| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jong Hee Chae, Yong Seung Hwang, Ki Joong Ki. Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. Journal of child neurology. vol 17. issue 1. 2002-09-03. PMID:11913567. |
in the present study, we analyzed the entire coding sequence of the mecp2 gene in 20 sporadic cases of rett syndrome in korea. |
2002-09-03 |
2023-08-12 |
Not clear |
| Sara Hammer, Naghmeh Dorrani, Joanna Dragich, Shinichi Kudo, Carolyn Schane. The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome. Mental retardation and developmental disabilities research reviews. vol 8. issue 2. 2002-09-03. PMID:12112734. |
the phenotypic consequences of mecp2 mutations extend beyond rett syndrome. |
2002-09-03 |
2023-08-12 |
Not clear |
| Sara Hammer, Naghmeh Dorrani, Joanna Dragich, Shinichi Kudo, Carolyn Schane. The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome. Mental retardation and developmental disabilities research reviews. vol 8. issue 2. 2002-09-03. PMID:12112734. |
although mecp2 was initially identified as the causative gene in classic rett syndrome (rtt), the gene has now been implicated in several phenotypes that extend well beyond the clinically defined disorder. |
2002-09-03 |
2023-08-12 |
Not clear |
| K C Hoffbuhr, L M Moses, M A Jerdonek, S Naidu, E P Hoffma. Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype. Mental retardation and developmental disabilities research reviews. vol 8. issue 2. 2002-09-03. PMID:12112735. |
recent studies have shown that mutations in the x-linked methyl cpg binding protein 2 gene (mecp2) cause most typical cases of rett syndrome. |
2002-09-03 |
2023-08-12 |
Not clear |
| K C Hoffbuhr, L M Moses, M A Jerdonek, S Naidu, E P Hoffma. Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype. Mental retardation and developmental disabilities research reviews. vol 8. issue 2. 2002-09-03. PMID:12112735. |
girls with rett syndrome exhibit mosaic expression for the mecp2 defect at the cellular level, with most patients showing random x-inactivation and approximately equal numbers of cells expressing the normal mecp2 gene and the mutated mecp2 gene. |
2002-09-03 |
2023-08-12 |
Not clear |
| K C Hoffbuhr, L M Moses, M A Jerdonek, S Naidu, E P Hoffma. Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype. Mental retardation and developmental disabilities research reviews. vol 8. issue 2. 2002-09-03. PMID:12112735. |
studies have shown that atypical and classical rett syndrome can caused by the same mecp2 mutations, indicating clinical phenotype is variable even among girls with the same mecp2 mutation. |
2002-09-03 |
2023-08-12 |
Not clear |
| K C Hoffbuhr, L M Moses, M A Jerdonek, S Naidu, E P Hoffma. Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype. Mental retardation and developmental disabilities research reviews. vol 8. issue 2. 2002-09-03. PMID:12112735. |
the relationship between type of mecp2 mutation, x-inactivation status, and clinical phenotype of rett syndrome is complex and likely involves other environmental and polygenic modifiers. |
2002-09-03 |
2023-08-12 |
Not clear |
| Alan K Perc. Clinical trials and treatment prospects. Mental retardation and developmental disabilities research reviews. vol 8. issue 2. 2002-09-03. PMID:12112736. |
prospects for definitive therapeutic intervention for rett syndrome (rs) have been elevated by the discovery of mutations in the methyl-cpg-binding protein 2 gene (mecp2) in more than 80% of females meeting clinical criteria for this disorder. |
2002-09-03 |
2023-08-12 |
Not clear |
| Mona Shahbazian, Juan Young, Lisa Yuva-Paylor, Corinne Spencer, Barbara Antalffy, Jeffrey Noebels, Dawna Armstrong, Richard Paylor, Huda Zoghb. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron. vol 35. issue 2. 2002-08-30. PMID:12160743. |
mice with truncated mecp2 recapitulate many rett syndrome features and display hyperacetylation of histone h3. |
2002-08-30 |
2023-08-12 |
mouse |
| Mona Shahbazian, Juan Young, Lisa Yuva-Paylor, Corinne Spencer, Barbara Antalffy, Jeffrey Noebels, Dawna Armstrong, Richard Paylor, Huda Zoghb. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron. vol 35. issue 2. 2002-08-30. PMID:12160743. |
mutations in the methyl-cpg binding protein 2 (mecp2) gene cause rett syndrome (rtt), a neurodevelopmental disorder characterized by the loss of language and motor skills during early childhood. |
2002-08-30 |
2023-08-12 |
mouse |
| Mona Shahbazian, Juan Young, Lisa Yuva-Paylor, Corinne Spencer, Barbara Antalffy, Jeffrey Noebels, Dawna Armstrong, Richard Paylor, Huda Zoghb. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron. vol 35. issue 2. 2002-08-30. PMID:12160743. |
additionally, we show that although the truncated mecp2 protein in these mice localizes normally to heterochromatic domains in vivo, histone h3 is hyperacetylated, providing evidence that the chromatin architecture is abnormal and that gene expression may be misregulated in this model of rett syndrome. |
2002-08-30 |
2023-08-12 |
mouse |
| Damina Balmer, Juan Arredondo, Rodney C Samaco, Janine M LaSall. MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain. Human genetics. vol 110. issue 6. 2002-08-13. PMID:12107440. |
mecp2 mutations in rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain. |
2002-08-13 |
2023-08-12 |
Not clear |
| Damina Balmer, Juan Arredondo, Rodney C Samaco, Janine M LaSall. MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain. Human genetics. vol 110. issue 6. 2002-08-13. PMID:12107440. |
rett syndrome (rtt) is an x-linked dominant neurodevelopmental disorder caused by mutations in mecp2, encoding methyl-cpg-binding protein 2 (mecp2). |
2002-08-13 |
2023-08-12 |
Not clear |
| Meral Topçu, Cemaliye Akyerli, Ayça Sayi, Gökçe A Törüner, Süha R Koçoğlu, Mine Cimbiş, Tayfun Ozçeli. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. European journal of human genetics : EJHG. vol 10. issue 1. 2002-07-23. PMID:11896459. |
somatic mosaicism for a mecp2 mutation associated with classic rett syndrome in a boy. |
2002-07-23 |
2023-08-12 |
Not clear |
| Meral Topçu, Cemaliye Akyerli, Ayça Sayi, Gökçe A Törüner, Süha R Koçoğlu, Mine Cimbiş, Tayfun Ozçeli. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. European journal of human genetics : EJHG. vol 10. issue 1. 2002-07-23. PMID:11896459. |
rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the x-linked mecp2 gene. |
2002-07-23 |
2023-08-12 |
Not clear |
| Meral Topçu, Cemaliye Akyerli, Ayça Sayi, Gökçe A Törüner, Süha R Koçoğlu, Mine Cimbiş, Tayfun Ozçeli. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. European journal of human genetics : EJHG. vol 10. issue 1. 2002-07-23. PMID:11896459. |
we identified a boy with features of classic rett syndrome who is mosaic for the truncating mecp2 mutation r270x. |
2002-07-23 |
2023-08-12 |
Not clear |
| Meral Topçu, Cemaliye Akyerli, Ayça Sayi, Gökçe A Törüner, Süha R Koçoğlu, Mine Cimbiş, Tayfun Ozçeli. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. European journal of human genetics : EJHG. vol 10. issue 1. 2002-07-23. PMID:11896459. |
these results indicate that a mecp2 mutation associated with rett syndrome in females could lead to a similar phenotype in males as a result of somatic mosaicism. |
2002-07-23 |
2023-08-12 |
Not clear |
| Pek Lan Khong, Ching Wan Lam, Clara G C Ooi, Chun Hung Ko, Virginia C N Won. Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome. Pediatric neurology. vol 26. issue 3. 2002-06-13. PMID:11955928. |
magnetic resonance spectroscopy and analysis of mecp2 in rett syndrome. |
2002-06-13 |
2023-08-12 |
human |
| Pek Lan Khong, Ching Wan Lam, Clara G C Ooi, Chun Hung Ko, Virginia C N Won. Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome. Pediatric neurology. vol 26. issue 3. 2002-06-13. PMID:11955928. |
we studied the in vivo cerebral metabolites and documented the presence of mecp2 gene mutations in six chinese females with rett syndrome. |
2002-06-13 |
2023-08-12 |
human |
| N Geerdink, J J Rotteveel, M Lammens, E A Sistermans, G T Heikens, F J M Gabreëls, R A Mullaart, B C J Hame. MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings. Neuropediatrics. vol 33. issue 1. 2002-06-12. PMID:11930274. |
we describe the clinical and neuropathological presentation of a male with an mecp2 mutation whose sister has rett syndrome (rs). |
2002-06-12 |
2023-08-12 |
Not clear |