| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| S G Vorsanova, I Iu Iurov, V Iu Voinova, O S Kurinnaia, M A Zelenova, I A Demidova, E V Ulas, Iu B Iuro. [Subchromosomal microdeletion identified by molecular karyotyping using DNA microarrays (array CGH) in Rett syndrome girls negative for MECP2 gene mutations]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. vol 113. issue 10. 2014-01-23. PMID:24300809. |
molecular karyotyping using dna microarrays (array cgh) was applied for identification of subchromosomal microdeletions in a cohort of 12 girls with clinical features of rett syndrome, but negative for mecp2 gene mutations. |
2014-01-23 |
2023-08-12 |
Not clear |
| Meagan R Pitcher, Christopher S Ward, E Melissa Arvide, Christopher A Chapleau, Lucas Pozzo-Miller, Andreas Hoeflich, Manaswini Sivaramakrishnan, Stefanie Saenger, Friedrich Metzger, Jeffrey L Neu. Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function. Human molecular genetics. vol 22. issue 13. 2014-01-07. PMID:23462290. |
rett syndrome (rtt), an x-linked postnatal disorder, results from mutations in methyl cpg-binding protein 2 (mecp2). |
2014-01-07 |
2023-08-12 |
mouse |
| Taimoor I Sheikh, Kirti Mittal, Mary J Willis, John B Vincen. A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient. Orphanet journal of rare diseases. vol 8. 2014-01-02. PMID:23866855. |
a synonymous change, p.gly16gly in mecp2 exon 1, causes a cryptic splice event in a rett syndrome patient. |
2014-01-02 |
2023-08-12 |
Not clear |
| Taimoor I Sheikh, Kirti Mittal, Mary J Willis, John B Vincen. A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient. Orphanet journal of rare diseases. vol 8. 2014-01-02. PMID:23866855. |
mutations in mecp2 are the main cause of rett syndrome. |
2014-01-02 |
2023-08-12 |
Not clear |
| Anna Panighini, Emiliano Duranti, Ferruccio Santini, Margherita Maffei, Tommaso Pizzorusso, Niccola Funel, Stefano Taddei, Nunzia Bernardini, Chiara Ippolito, Agostino Virdis, Mario Cost. Vascular dysfunction in a mouse model of Rett syndrome and effects of curcumin treatment. PloS one. vol 8. issue 5. 2013-12-30. PMID:23705018. |
mutations in the coding sequence of the x-linked gene mecp2 (methyl cpg-binding protein) are present in around 80% of patients with rett syndrome, a common cause of intellectual disability in female and to date without any effective pharmacological treatment. |
2013-12-30 |
2023-08-12 |
mouse |
| Monika Go. Epigenetic mechanisms of gene expression regulation in neurological diseases. Acta neurobiologiae experimentalis. vol 73. issue 1. 2013-12-10. PMID:23595281. |
one of the best known diseases linked to defects in epigenetic modifiers is rett syndrome caused by a mutation in the mecp2 gene or its variant - rett-like syndrome caused by a mutation in cdkl5 or foxg1 genes. |
2013-12-10 |
2023-08-12 |
Not clear |
| Ivan Y Iourov, Svetlana G Vorsanova, Victoria Y Voinova, Oxana S Kurinnaia, Maria A Zelenova, Irina A Demidova, Yuri B Yuro. Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease. Molecular cytogenetics. vol 6. issue 1. 2013-12-09. PMID:24283533. |
xq28 (mecp2) microdeletions are common in mutation-negative females with rett syndrome and cause mild subtypes of the disease. |
2013-12-09 |
2023-08-12 |
Not clear |
| Ivan Y Iourov, Svetlana G Vorsanova, Victoria Y Voinova, Oxana S Kurinnaia, Maria A Zelenova, Irina A Demidova, Yuri B Yuro. Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease. Molecular cytogenetics. vol 6. issue 1. 2013-12-09. PMID:24283533. |
rett syndrome (rtt) is an x-linked neurodevelopmental disease affecting predominantly females caused by mecp2 mutations. |
2013-12-09 |
2023-08-12 |
Not clear |
| Christie M Buchovecky, Stephen D Turley, Hannah M Brown, Stephanie M Kyle, Jeffrey G McDonald, Benny Liu, Andrew A Pieper, Wenhui Huang, David M Katz, David W Russell, Jay Shendure, Monica J Justic. A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome. Nature genetics. vol 45. issue 9. 2013-11-26. PMID:23892605. |
a suppressor screen in mecp2 mutant mice implicates cholesterol metabolism in rett syndrome. |
2013-11-26 |
2023-08-12 |
mouse |
| Christie M Buchovecky, Stephen D Turley, Hannah M Brown, Stephanie M Kyle, Jeffrey G McDonald, Benny Liu, Andrew A Pieper, Wenhui Huang, David M Katz, David W Russell, Jay Shendure, Monica J Justic. A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome. Nature genetics. vol 45. issue 9. 2013-11-26. PMID:23892605. |
mutations in mecp2, encoding methyl cpg-binding protein 2, cause rett syndrome, the most severe autism spectrum disorder. |
2013-11-26 |
2023-08-12 |
mouse |
| Gabor Nagy, Susan L Ackerma. Cholesterol metabolism and Rett syndrome pathogenesis. Nature genetics. vol 45. issue 9. 2013-11-26. PMID:23985682. |
rett syndrome is caused by mutations in the gene encoding the transcriptional regulator mecp2. |
2013-11-26 |
2023-08-12 |
mouse |
| Dhanjit Kumar Das, Vrajesh Udani, Daksha Sanghavi, Rashmi Adhia, Anurupa Maitr. Mutational analysis of methyl-CpG binding protein 2 (MECP2) gene in Indian cases of Rett syndrome. Journal of clinical laboratory analysis. vol 27. issue 2. 2013-11-19. PMID:23400946. |
mutational analysis of methyl-cpg binding protein 2 (mecp2) gene in indian cases of rett syndrome. |
2013-11-19 |
2023-08-12 |
Not clear |
| Saurabh K Garg, Daniel T Lioy, Hélène Cheval, James C McGann, John M Bissonnette, Matthew J Murtha, Kevin D Foust, Brian K Kaspar, Adrian Bird, Gail Mande. Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 33. issue 34. 2013-10-28. PMID:23966684. |
systemic delivery of mecp2 rescues behavioral and cellular deficits in female mouse models of rett syndrome. |
2013-10-28 |
2023-08-12 |
mouse |
| Saurabh K Garg, Daniel T Lioy, Hélène Cheval, James C McGann, John M Bissonnette, Matthew J Murtha, Kevin D Foust, Brian K Kaspar, Adrian Bird, Gail Mande. Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 33. issue 34. 2013-10-28. PMID:23966684. |
de novo mutations in the x-linked gene encoding the transcription factor methyl-cpg binding protein 2 (mecp2) are the most frequent cause of the neurological disorder rett syndrome (rtt). |
2013-10-28 |
2023-08-12 |
mouse |
| Chiranjeevi Bodda, Martesa Tantra, Rustam Mollajew, Jayamuruga P Arunachalam, Franco A Laccone, Karolina Can, Albert Rosenberger, Sergej L Mironov, Hannelore Ehrenreich, Ashraf U Manna. Mild overexpression of Mecp2 in mice causes a higher susceptibility toward seizures. The American journal of pathology. vol 183. issue 1. 2013-10-24. PMID:23684790. |
an intriguing finding about the gene encoding methyl-cpg binding protein 2 (mecp2) is that the loss-of-function mutations cause rett syndrome and duplication (gain-of-function) of mecp2 leads to another neurological disorder termed mecp2 duplication syndrome. |
2013-10-24 |
2023-08-12 |
mouse |
| Carolyn J Ellaway, Gladys Ho, Elisa Bettella, Alisa Knapman, Felicity Collins, Anna Hackett, Fiona McKenzie, Artur Darmanian, Gregory B Peters, Kerry Fagan, John Christodoulo. 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. European journal of human genetics : EJHG. vol 21. issue 5. 2013-10-17. PMID:22968132. |
usually sporadic, rett syndrome is caused by mutations in the x-linked mecp2 gene in ∼90-95% of classic cases and 40-60% of individuals with atypical rett syndrome. |
2013-10-17 |
2023-08-12 |
Not clear |
| Shino Shimada, Nobuhiko Okamoto, Masahiro Ito, Yasuhiro Arai, Ken Momosaki, Masami Togawa, Yoshihiro Maegaki, Midori Sugawara, Keiko Shimojima, Makiko Osawa, Toshiyuki Yamamot. MECP2 duplication syndrome in both genders. Brain & development. vol 35. issue 5. 2013-09-30. PMID:22877836. |
duplications involving the methyl-cpg-binding protein 2 gene (mecp2) locus at xq28 have been frequently identified in male patients who exhibit a phenotype unique from that of rett syndrome, which is mainly characterized by severe mental retardation, recurrent infections, and epilepsy. |
2013-09-30 |
2023-08-12 |
Not clear |
| Matthew J Lyst, Robert Ekiert, Daniel H Ebert, Cara Merusi, Jakub Nowak, Jim Selfridge, Jacky Guy, Nathaniel R Kastan, Nathaniel D Robinson, Flavia de Lima Alves, Juri Rappsilber, Michael E Greenberg, Adrian Bir. Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. Nature neuroscience. vol 16. issue 7. 2013-09-03. PMID:23770565. |
rett syndrome mutations abolish the interaction of mecp2 with the ncor/smrt co-repressor. |
2013-09-03 |
2023-08-12 |
mouse |
| Matthew J Lyst, Robert Ekiert, Daniel H Ebert, Cara Merusi, Jakub Nowak, Jim Selfridge, Jacky Guy, Nathaniel R Kastan, Nathaniel D Robinson, Flavia de Lima Alves, Juri Rappsilber, Michael E Greenberg, Adrian Bir. Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. Nature neuroscience. vol 16. issue 7. 2013-09-03. PMID:23770565. |
rett syndrome (rtt) is a severe neurological disorder that is caused by mutations in the mecp2 gene. |
2013-09-03 |
2023-08-12 |
mouse |
| Dhanjit Kumar Das, Bhakti Mehta, Shyla R Menon, Sarbani Raha, Vrajesh Udan. Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome. Neuromolecular medicine. vol 15. issue 1. 2013-08-29. PMID:23242510. |
both the classic and atypical forms of rett syndrome are primarily due to mutations in the methyl-cpg-binding protein 2 (mecp2) gene. |
2013-08-29 |
2023-08-12 |
Not clear |