| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Sara Hammer, Naghmeh Dorrani, Jaana Hartiala, Stuart Stein, N Carolyn Schane. Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. American journal of medical genetics. Part A. vol 122A. issue 3. 2004-04-22. PMID:12966522. |
rett syndrome is caused by mutation in mecp2, a gene located on xq28 and subject to x-inactivation. |
2004-04-22 |
2023-08-12 |
human |
| Sara Hammer, Naghmeh Dorrani, Jaana Hartiala, Stuart Stein, N Carolyn Schane. Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. American journal of medical genetics. Part A. vol 122A. issue 3. 2004-04-22. PMID:12966522. |
this is the first reported case of sex chromosome trisomy and mecp2 mutation in a female, and it illustrates the importance of allele dosage on the severity of rett syndrome phenotype. |
2004-04-22 |
2023-08-12 |
human |
| Juan I Young, Huda Y Zoghb. X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome. American journal of human genetics. vol 74. issue 3. 2004-04-21. PMID:14973779. |
rett syndrome (rtt), a neurodevelopmental disorder affecting mostly females, is caused by mutations in the x-linked gene encoding methyl-cpg-binding protein 2 (mecp2). |
2004-04-21 |
2023-08-12 |
mouse |
| B C Mullaney, M V Johnston, M E Blu. Developmental expression of methyl-CpG binding protein 2 is dynamically regulated in the rodent brain. Neuroscience. vol 123. issue 4. 2004-04-12. PMID:14751287. |
the gene encoding methyl-cpg binding protein 2 (mecp2) is mutated in the large majority of girls that have rett syndrome (rtt), an x-linked neurodevelopmental disorder. |
2004-04-12 |
2023-08-12 |
rat |
| B C Mullaney, M V Johnston, M E Blu. Developmental expression of methyl-CpG binding protein 2 is dynamically regulated in the rodent brain. Neuroscience. vol 123. issue 4. 2004-04-12. PMID:14751287. |
our finding that mecp2 expression is correlated with synaptogenesis is consistent with the hypothesis that rett syndrome is caused by defects in the formation or maintenance of synapses. |
2004-04-12 |
2023-08-12 |
rat |
| Franco Laccone, Ivonne Jünemann, Sharon Whatley, Rhian Morgan, Rachel Butler, Peter Huppke, David Ravin. Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. Human mutation. vol 23. issue 3. 2004-03-25. PMID:14974082. |
large deletions of the mecp2 gene detected by gene dosage analysis in patients with rett syndrome. |
2004-03-25 |
2023-08-12 |
Not clear |
| Franco Laccone, Ivonne Jünemann, Sharon Whatley, Rhian Morgan, Rachel Butler, Peter Huppke, David Ravin. Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. Human mutation. vol 23. issue 3. 2004-03-25. PMID:14974082. |
mecp2 mutations are responsible for rett syndrome (rtt). |
2004-03-25 |
2023-08-12 |
Not clear |
| E Schollen, E Smeets, E Deflem, J P Fryns, G Matthij. Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome. Human mutation. vol 22. issue 2. 2004-02-20. PMID:12872251. |
gross rearrangements in the mecp2 gene in three patients with rett syndrome: implications for routine diagnosis of rett syndrome. |
2004-02-20 |
2023-08-12 |
Not clear |
| E Schollen, E Smeets, E Deflem, J P Fryns, G Matthij. Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome. Human mutation. vol 22. issue 2. 2004-02-20. PMID:12872251. |
since 1999, many laboratories have confirmed that mutations in the mecp2 gene are the primary cause of rett syndrome (rtt or rs) and identified mutations in 70 to 90% of the sporadically affected girls. |
2004-02-20 |
2023-08-12 |
Not clear |
| SakkuBai Naidu, Genila Bibat, Lisa Kratz, Richard I Kelley, Jonathan Pevsner, Eric Hoffman, Carmen Cuffari, Charles Rohde, Mary E Blue, Michael V Johnsto. Clinical variability in Rett syndrome. Journal of child neurology. vol 18. issue 10. 2004-02-11. PMID:14649546. |
the clinical variability of rett syndrome, associated with mutations in the mecp2 gene, varies from classically symptomatic female patients to asymptomatic female patients, and male patients who have none of the diagnostic features considered pathognomonic of this disease. |
2004-02-11 |
2023-08-12 |
Not clear |
| John Christodoulou, Linda S Weavin. MECP2 and beyond: phenotype-genotype correlations in Rett syndrome. Journal of child neurology. vol 18. issue 10. 2004-02-11. PMID:14649547. |
mecp2 and beyond: phenotype-genotype correlations in rett syndrome. |
2004-02-11 |
2023-08-12 |
mouse |
| John Christodoulou, Linda S Weavin. MECP2 and beyond: phenotype-genotype correlations in Rett syndrome. Journal of child neurology. vol 18. issue 10. 2004-02-11. PMID:14649547. |
the association of rett syndrome with pathogenic mutations of the methyl-cpg binding protein 2 (mecp2) gene was first made in 1999. |
2004-02-11 |
2023-08-12 |
mouse |
| Mohammed H Jarrar, Charles G Danko, Sriram Reddy, Ye-Jin M Lee, Genila Bibat, Walter E Kaufman. MeCP2 expression in human cerebral cortex and lymphoid cells: immunochemical characterization of a novel higher-molecular-weight form. Journal of child neurology. vol 18. issue 10. 2004-02-11. PMID:14649548. |
most cases of rett syndrome are associated with mutations in the coding region of mecp2. |
2004-02-11 |
2023-08-12 |
human |
| Mohammed H Jarrar, Charles G Danko, Sriram Reddy, Ye-Jin M Lee, Genila Bibat, Walter E Kaufman. MeCP2 expression in human cerebral cortex and lymphoid cells: immunochemical characterization of a novel higher-molecular-weight form. Journal of child neurology. vol 18. issue 10. 2004-02-11. PMID:14649548. |
the presence of higher-molecular-weight form mecp2 in postsynaptic fractions indicates a possible involvement in linking synaptic activity and transcriptional repression that, in turn, could play a role in the pathogenesis of rett syndrome and other neurologic disorders. |
2004-02-11 |
2023-08-12 |
human |
| Dawna Duncan Armstrong, Kimiko Deguchi, Bobbie Antallf. Survey of MeCP2 in the Rett syndrome and the non-Rett syndrome brain. Journal of child neurology. vol 18. issue 10. 2004-02-11. PMID:14649549. |
survey of mecp2 in the rett syndrome and the non-rett syndrome brain. |
2004-02-11 |
2023-08-12 |
human |
| Dawna Duncan Armstrong, Kimiko Deguchi, Bobbie Antallf. Survey of MeCP2 in the Rett syndrome and the non-Rett syndrome brain. Journal of child neurology. vol 18. issue 10. 2004-02-11. PMID:14649549. |
the clinical and neuropathologic aspects of rett syndrome suggest that an arrest of brain development produces the phenotype, but it is not understood how the gene implicated in rett syndrome, methyl-cpg protein 2 (mecp2), is regulated during brain development. |
2004-02-11 |
2023-08-12 |
human |
| Dawna Duncan Armstrong, Kimiko Deguchi, Bobbie Antallf. Survey of MeCP2 in the Rett syndrome and the non-Rett syndrome brain. Journal of child neurology. vol 18. issue 10. 2004-02-11. PMID:14649549. |
in this study, the ontogeny of mecp2 is examined in the developing human brain and in the female rett syndrome brain to evaluate the relationship between mecp2 expression and brain development in health and disease, respectively. |
2004-02-11 |
2023-08-12 |
human |
| Dawna Duncan Armstrong, Kimiko Deguchi, Bobbie Antallf. Survey of MeCP2 in the Rett syndrome and the non-Rett syndrome brain. Journal of child neurology. vol 18. issue 10. 2004-02-11. PMID:14649549. |
in the rett syndrome brain, fewer neurons express mecp2 than in the normal brain. |
2004-02-11 |
2023-08-12 |
human |
| Dawna Duncan Armstrong, Kimiko Deguchi, Bobbie Antallf. Survey of MeCP2 in the Rett syndrome and the non-Rett syndrome brain. Journal of child neurology. vol 18. issue 10. 2004-02-11. PMID:14649549. |
in rett syndrome, however, the expression pattern of mecp2 does not completely resemble that of the normal immature brain, suggesting that the maintenance of mecp2 might be determined in specific neurons by factors other than those controlling maturation. |
2004-02-11 |
2023-08-12 |
human |
| Michael V Johnston, Brendan Mullaney, Mary E Blu. Neurobiology of Rett syndrome. Journal of child neurology. vol 18. issue 10. 2004-02-11. PMID:14649550. |
recent immunocytochemical studies in rodent brain investigating development of mecp2, the transcription factor mutated in rett syndrome, suggest that expression is delayed until the time of synapse formation. |
2004-02-11 |
2023-08-12 |
Not clear |