All Relations between Rett Syndrome and mecp2

Publication Sentence Publish Date Extraction Date Species
Jian Feng, Eric J Nestle. MeCP2 and drug addiction. Nature neuroscience. vol 13. issue 9. 2010-10-04. PMID:20740030. two studies in this issue show that the protein mecp2, which is implicated in rett syndrome, also critically regulates behavioral responses to psychostimulants. 2010-10-04 2023-08-12 Not clear
C B Fong, M K Thong, C K Sam, M N Mohamed Noor, R Ariffi. MECP2 mutations in Malaysian Rett syndrome patients. Singapore medical journal. vol 50. issue 5. 2010-09-29. PMID:19495527. mecp2 mutations in malaysian rett syndrome patients. 2010-09-29 2023-08-12 Not clear
Holly N Cukier, Raquel Rabionet, Ioanna Konidari, Melissa Y Rayner-Evans, Mary L Baltos, Harry H Wright, Ruth K Abramson, Eden R Martin, Michael L Cuccaro, Margaret A Pericak-Vance, John R Gilber. Novel variants identified in methyl-CpG-binding domain genes in autistic individuals. Neurogenetics. vol 11. issue 3. 2010-09-24. PMID:19921286. misregulation of the methyl-cpg-binding protein 2 (mecp2) gene has been found to cause a myriad of neurological disorders including autism, mental retardation, seizures, learning disabilities, and rett syndrome. 2010-09-24 2023-08-12 Not clear
L A Kifayathullah, J P Arunachalam, C Bodda, H Y Agbemenyah, F A Laccone, A U Manna. MeCP2 mutant protein is expressed in astrocytes as well as in neurons and localizes in the nucleus. Cytogenetic and genome research. vol 129. issue 4. 2010-09-08. PMID:20625242. the mecp2 gene, located at xq28, encodes methyl-cpg-binding protein 2 (mecp2), which is frequently mutated (up to 90%) in rett syndrome (rtt). 2010-09-08 2023-08-12 mouse
Zhong-Wei Zhang, Joseph D Zak, Hong Li. MeCP2 is required for normal development of GABAergic circuits in the thalamus. Journal of neurophysiology. vol 103. issue 5. 2010-08-25. PMID:20200124. methyl-cpg binding protein 2 (mecp2) is highly expressed in neurons in the vertebrate brain, and mutations of the gene encoding mecp2 cause the neurodevelopmental disorder rett syndrome. 2010-08-25 2023-08-12 mouse
Delphine Carouge, Lionel Host, Dominique Aunis, Jean Zwiller, Patrick Anglar. CDKL5 is a brain MeCP2 target gene regulated by DNA methylation. Neurobiology of disease. vol 38. issue 3. 2010-08-17. PMID:20211261. rett syndrome and its "early-onset seizure" variant are severe neurodevelopmental disorders associated with mutations within the mecp2 and the cdkl5 genes. 2010-08-17 2023-08-12 rat
Jenny Downs, Sandrine M Géranton, Ami Bebbington, Peter Jacoby, Nadia Bahi-Buisson, David Ravine, Helen Leonar. Linking MECP2 and pain sensitivity: the example of Rett syndrome. American journal of medical genetics. Part A. vol 152A. issue 5. 2010-08-12. PMID:20425824. linking mecp2 and pain sensitivity: the example of rett syndrome. 2010-08-12 2023-08-12 human
Jenny Downs, Sandrine M Géranton, Ami Bebbington, Peter Jacoby, Nadia Bahi-Buisson, David Ravine, Helen Leonar. Linking MECP2 and pain sensitivity: the example of Rett syndrome. American journal of medical genetics. Part A. vol 152A. issue 5. 2010-08-12. PMID:20425824. this study investigated the nature and prevalence of atypical pain responses in rett syndrome and their relationships with specific mecp2 mutations. 2010-08-12 2023-08-12 human
B De Filippis, L Ricceri, G Laviol. Early postnatal behavioral changes in the Mecp2-308 truncation mouse model of Rett syndrome. Genes, brain, and behavior. vol 9. issue 2. 2010-08-10. PMID:19958389. in a mouse model of rett syndrome (rtt) which expresses a truncated form of methyl-cpg-binding protein 2 (mecp2) gene (mecp2-308), we performed a neurobehavioral evaluation across the life span, starting from soon after birth till adulthood. 2010-08-10 2023-08-12 mouse
Daniela Zahorakova, Marie Jachymova, David Kemlink, Alice Baxova, Pavel Martase. APOE epsilon4: a potential modulation factor in Rett syndrome. Journal of child neurology. vol 25. issue 5. 2010-08-05. PMID:20139413. rett syndrome is a neurodevelopmental disorder mainly caused by de novo mutations in the mecp2 (methyl-cpg-binding protein 2) gene. 2010-08-05 2023-08-12 Not clear
Daniela Zahorakova, Marie Jachymova, David Kemlink, Alice Baxova, Pavel Martase. APOE epsilon4: a potential modulation factor in Rett syndrome. Journal of child neurology. vol 25. issue 5. 2010-08-05. PMID:20139413. there is considerable variation in the severity of clinical features among rett syndrome patients, even among patients with the same mecp2 mutation. 2010-08-05 2023-08-12 Not clear
Daniela Zahorakova, Marie Jachymova, David Kemlink, Alice Baxova, Pavel Martase. APOE epsilon4: a potential modulation factor in Rett syndrome. Journal of child neurology. vol 25. issue 5. 2010-08-05. PMID:20139413. we analyzed clinical phenotypes of 46 patients with rett syndrome, with confirmed mecp2 mutation. 2010-08-05 2023-08-12 Not clear
John Condie, Joshua Goldstein, Mark S Wainwrigh. Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation. Journal of child neurology. vol 25. issue 5. 2010-08-05. PMID:20142466. testing for mutations in the mecp2 gene identified a de novo hemizygous c.378-3c>g mutation at a highly conserved 3' splice site, consistent with rett syndrome. 2010-08-05 2023-08-12 Not clear
Andreea Nissenkorn, Eva Gak, Manuela Vecsler, Haia Reznik, Shay Menascu, Bruria Ben Zee. Epilepsy in Rett syndrome---the experience of a National Rett Center. Epilepsia. vol 51. issue 7. 2010-08-04. PMID:20491871. rett syndrome (rtt), an x-linked, dominant neurodevelopmental disorder caused by mutations in the methyl-cpg-binding protein 2 (mecp2) gene, presents with acquired microcephaly, autistic regression, hand usage loss, and stereotypies. 2010-08-04 2023-08-12 Not clear
Carol J Saunders, Michael J Friez, Melanie Patterson, Masha Nzabi, Weiwei Zhao, Chengpeng B. Allele drop-out in the MECP2 gene due to G-quadruplex and i-motif sequences when using polymerase chain reaction-based diagnosis for Rett syndrome. Genetic testing and molecular biomarkers. vol 14. issue 2. 2010-07-29. PMID:20384458. allele drop-out in the mecp2 gene due to g-quadruplex and i-motif sequences when using polymerase chain reaction-based diagnosis for rett syndrome. 2010-07-29 2023-08-12 Not clear
Carol J Saunders, Michael J Friez, Melanie Patterson, Masha Nzabi, Weiwei Zhao, Chengpeng B. Allele drop-out in the MECP2 gene due to G-quadruplex and i-motif sequences when using polymerase chain reaction-based diagnosis for Rett syndrome. Genetic testing and molecular biomarkers. vol 14. issue 2. 2010-07-29. PMID:20384458. we investigated the mechanisms leading to ado in the mecp2 gene in two unrelated female patients undergoing testing for rett syndrome. 2010-07-29 2023-08-12 Not clear
A Bebbington, A Percy, J Christodoulou, D Ravine, G Ho, P Jacoby, A Anderson, M Pineda, B Ben Zeev, N Bahi-Buisson, E Smeets, H Leonar. Updating the profile of C-terminal MECP2 deletions in Rett syndrome. Journal of medical genetics. vol 47. issue 4. 2010-07-28. PMID:19914908. updating the profile of c-terminal mecp2 deletions in rett syndrome. 2010-07-28 2023-08-12 Not clear
A Bebbington, A Percy, J Christodoulou, D Ravine, G Ho, P Jacoby, A Anderson, M Pineda, B Ben Zeev, N Bahi-Buisson, E Smeets, H Leonar. Updating the profile of C-terminal MECP2 deletions in Rett syndrome. Journal of medical genetics. vol 47. issue 4. 2010-07-28. PMID:19914908. this study aimed to compare the phenotype of rett syndrome cases with c-terminal deletions to that of cases with different mecp2 mutations and to examine the phenotypic variation within c-terminal deletions. 2010-07-28 2023-08-12 Not clear
Aglaia Vignoli, Rosa Angela Fabio, Francesca La Briola, Samantha Giannatiempo, Alessandro Antonietti, Silvia Maggiolini, Maria Paola Canevin. Correlations between neurophysiological, behavioral, and cognitive function in Rett syndrome. Epilepsy & behavior : E&B. vol 17. issue 4. 2010-07-22. PMID:20236870. rett syndrome, a neurodevelopmental disorder affecting mainly females, is caused by a mutation of the mecp2 gene. 2010-07-22 2023-08-12 Not clear
Michael L Gonzales, Janine M LaSall. The role of MeCP2 in brain development and neurodevelopmental disorders. Current psychiatry reports. vol 12. issue 2. 2010-07-21. PMID:20425298. rett syndrome, the primary disorder caused by mutations in the x-linked mecp2 gene, is characterized by a period of cognitive decline and development of hand stereotypies and seizures following an apparently normal early infancy. 2010-07-21 2023-08-12 human