| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Noriyuki Kishi, Jeffrey D Mackli. MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions. Molecular and cellular neurosciences. vol 27. issue 3. 2005-01-25. PMID:15519245. |
it was recently discovered that mutation of the methyl-cpg-binding protein 2 (mecp2) gene encoding a transcriptional repressor on the x chromosome causes rett syndrome. |
2005-01-25 |
2023-08-12 |
mouse |
| Noriyuki Kishi, Jeffrey D Mackli. MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions. Molecular and cellular neurosciences. vol 27. issue 3. 2005-01-25. PMID:15519245. |
although it is evident that phenotypes of mecp2 mutant mice that resemble those of rett syndrome are attributable to lack of the mecp2 gene in the central nervous system (cns), there is little understanding of the neuropathological abnormalities in the cns of mecp2-null mice. |
2005-01-25 |
2023-08-12 |
mouse |
| Daniel Braunschweig, Thomas Simcox, Rodney C Samaco, Janine M LaSall. X-Chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain. Human molecular genetics. vol 13. issue 12. 2004-12-22. PMID:15115765. |
x-chromosome inactivation ratios affect wild-type mecp2 expression within mosaic rett syndrome and mecp2-/+ mouse brain. |
2004-12-22 |
2023-08-12 |
mouse |
| Daniel Braunschweig, Thomas Simcox, Rodney C Samaco, Janine M LaSall. X-Chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain. Human molecular genetics. vol 13. issue 12. 2004-12-22. PMID:15115765. |
rett syndrome (rtt) is an x-linked neurodevelopmental disorder caused by mutations in mecp2, encoding methyl-cpg-binding protein 2 (mecp2). |
2004-12-22 |
2023-08-12 |
mouse |
| Jong Hee Chae, Hee Hwang, Yong Seung Hwang, Hee Jung Cheong, Ki Joong Ki. Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype. Journal of child neurology. vol 19. issue 7. 2004-12-07. PMID:15526954. |
influence of mecp2 gene mutation and x-chromosome inactivation on the rett syndrome phenotype. |
2004-12-07 |
2023-08-12 |
Not clear |
| Jong Hee Chae, Hee Hwang, Yong Seung Hwang, Hee Jung Cheong, Ki Joong Ki. Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype. Journal of child neurology. vol 19. issue 7. 2004-12-07. PMID:15526954. |
we analyzed the entire coding sequence of the mecp2 gene and the x-chromosome inactivation pattern in 42 sporadic cases of rett syndrome. |
2004-12-07 |
2023-08-12 |
Not clear |
| Jong Hee Chae, Hee Hwang, Yong Seung Hwang, Hee Jung Cheong, Ki Joong Ki. Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype. Journal of child neurology. vol 19. issue 7. 2004-12-07. PMID:15526954. |
this study suggests that the x-chromosome inactivation pattern can modify the phenotype of rett syndrome, which is primarily determined by the type and site of mecp2 gene mutation. |
2004-12-07 |
2023-08-12 |
Not clear |
| Rodney C Samaco, Raman P Nagarajan, Daniel Braunschweig, Janine M LaSall. Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders. Human molecular genetics. vol 13. issue 6. 2004-10-28. PMID:14734626. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations in mecp2, encoding methyl-cpg-binding protein 2 (mecp2). |
2004-10-28 |
2023-08-12 |
Not clear |
| Ilaria Longo, Luisa Russo, Ilaria Meloni, Iolanda Ricci, Francesca Ariani, Chiara Pescucci, Carmela Tiziana Giordano, Roberto Canitano, Giuseppe Hayek, Michele Zappella, Giovanni Neri, Alessandra Renieri, Fiorella Gurrier. Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements. European journal of human genetics : EJHG. vol 12. issue 8. 2004-10-28. PMID:15069458. |
rett syndrome is a monogenic x-linked dominant condition due to de novo mutations in the mecp2 gene, whereas autism is a neurodevelopmental and behavioral disorder with complex genetic basis. |
2004-10-28 |
2023-08-12 |
Not clear |
| Francesca Ariani, Francesca Mari, Chiara Pescucci, Ilaria Longo, Mirella Bruttini, Ilaria Meloni, Giuseppe Hayek, Raffaele Rocchi, Michele Zappella, Alessandra Renier. Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication. Human mutation. vol 24. issue 2. 2004-10-25. PMID:15241799. |
real-time quantitative pcr as a routine method for screening large rearrangements in rett syndrome: report of one case of mecp2 deletion and one case of mecp2 duplication. |
2004-10-25 |
2023-08-12 |
Not clear |
| Francesca Ariani, Francesca Mari, Chiara Pescucci, Ilaria Longo, Mirella Bruttini, Ilaria Meloni, Giuseppe Hayek, Raffaele Rocchi, Michele Zappella, Alessandra Renier. Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication. Human mutation. vol 24. issue 2. 2004-10-25. PMID:15241799. |
mutations in the x-linked methyl-cpg-binding protein 2 gene (mecp2) are found in 70-80% of cases of classical rett syndrome (rtt) and in about 50% of cases of preserved speech variant (psv). |
2004-10-25 |
2023-08-12 |
Not clear |
| Anna Erlandson, Lena Samuelsson, Bengt Hagberg, Mårten Kyllerman, Mihailo Vujic, Jan Wahlströ. Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients. Genetic testing. vol 7. issue 4. 2004-10-21. PMID:15000811. |
multiplex ligation-dependent probe amplification (mlpa) detects large deletions in the mecp2 gene of swedish rett syndrome patients. |
2004-10-21 |
2023-08-12 |
Not clear |
| Anna Erlandson, Lena Samuelsson, Bengt Hagberg, Mårten Kyllerman, Mihailo Vujic, Jan Wahlströ. Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients. Genetic testing. vol 7. issue 4. 2004-10-21. PMID:15000811. |
mutations in the methyl-cpg-binding protein-2 (mecp2) gene on xq28 have been found to be a cause of rett syndrome (rs). |
2004-10-21 |
2023-08-12 |
Not clear |
| Jan P Buschdorf, Wolf H Strätlin. A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome. Journal of molecular medicine (Berlin, Germany). vol 82. issue 2. 2004-10-18. PMID:14618241. |
a ww domain binding region in methyl-cpg-binding protein mecp2: impact on rett syndrome. |
2004-10-18 |
2023-08-12 |
Not clear |
| Jan P Buschdorf, Wolf H Strätlin. A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome. Journal of molecular medicine (Berlin, Germany). vol 82. issue 2. 2004-10-18. PMID:14618241. |
rett syndrome is a dominant neurological disorder caused by loss-of-function mutations of methyl-cpg-binding protein 2 (mecp2). |
2004-10-18 |
2023-08-12 |
Not clear |
| Jan P Buschdorf, Wolf H Strätlin. A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome. Journal of molecular medicine (Berlin, Germany). vol 82. issue 2. 2004-10-18. PMID:14618241. |
we then used comparison with genotype-phenotype studies in rett syndrome patients to evaluate the relevance of group ii ww domain interactions of mecp2 for pathogenesis. |
2004-10-18 |
2023-08-12 |
Not clear |
| Megan P Hitchins, Sarah Rickard, Fatima Dhalla, Una L Fairbrother, Bert B A de Vries, Robin Winter, Marcus E Pembrey, Sue Malcol. Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS. American journal of medical genetics. Part A. vol 125A. issue 2. 2004-09-28. PMID:14981718. |
rett syndrome (rs), caused by mutations of the mecp2 gene, and patients with deletions of 22q13.3 --> qter, have overlapping clinical features with as. |
2004-09-28 |
2023-08-12 |
Not clear |
| F Kammoun, N de Roux, O Boespflug-Tanguy, L Vallée, R Seng, M Tardieu, P Landrie. Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases. Journal of medical genetics. vol 41. issue 6. 2004-09-27. PMID:15173251. |
screening of mecp2 coding sequence in patients with phenotypes of decreasing likelihood for rett syndrome: a cohort of 171 cases. |
2004-09-27 |
2023-08-12 |
Not clear |
| H Leonard, L Weaving, P Eastaugh, L Smith, M Delatycki, I Witt Engerström, J Christodoulo. Trisomy 21 and Rett syndrome: a double burden. Journal of paediatrics and child health. vol 40. issue 7. 2004-09-24. PMID:15228575. |
mutations in the methyl-cpg binding protein 2 (mecp2) gene, have now been found to cause rett syndrome in up to 80% of classical cases. |
2004-09-24 |
2023-08-12 |
Not clear |
| Gevork N Mnatzakanian, Hannes Lohi, Iulia Munteanu, Simon E Alfred, Takahiro Yamada, Patrick J M MacLeod, Julie R Jones, Stephen W Scherer, N Carolyn Schanen, Michael J Friez, John B Vincent, Berge A Minassia. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nature genetics. vol 36. issue 4. 2004-08-16. PMID:15034579. |
a previously unidentified mecp2 open reading frame defines a new protein isoform relevant to rett syndrome. |
2004-08-16 |
2023-08-12 |
Not clear |