All Relations between Rett Syndrome and mecp2

Publication Sentence Publish Date Extraction Date Species
Amy E Pohodich, Huda Y Zoghb. Rett syndrome: disruption of epigenetic control of postnatal neurological functions. Human molecular genetics. vol 24. issue R1. 2016-06-28. PMID:26060191. loss-of-function mutations in the x-linked gene methyl-cpg-binding protein 2 (mecp2) cause a devastating pediatric neurological disorder called rett syndrome. 2016-06-28 2023-08-13 Not clear
Amy E Pohodich, Huda Y Zoghb. Rett syndrome: disruption of epigenetic control of postnatal neurological functions. Human molecular genetics. vol 24. issue R1. 2016-06-28. PMID:26060191. in this review, we will highlight recent findings that have expanded our knowledge of mecp2's functions, and we will discuss how epigenetic regulation, chromatin organization and circuit dynamics may contribute to the postnatal onset of rett syndrome. 2016-06-28 2023-08-13 Not clear
Audrey Rousseaud, Chloé Delépine, Juliette Nectoux, Pierre Billuart, Thierry Bienven. Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2(308/y) Mouse Model. Journal of molecular neuroscience : MN. vol 56. issue 4. 2016-06-27. PMID:25634725. rett syndrome (rtt) is a severe neurodevelopmental disease caused by mutations in methyl-cpg-binding protein 2 (mecp2), which encodes a transcriptional modulator of many genes including bdnf. 2016-06-27 2023-08-13 mouse
José Pedro Vieira, Fátima Lopes, Anabela Silva-Fernandes, Maria Vânia Sousa, Sofia Moura, Susana Sousa, Bruno M Costa, Mafalda Barbosa, Bauke Ylstra, Teresa Temudo, Teresa Lourenço, Patrícia Macie. Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. vol 46. 2016-06-20. PMID:26287660. variant rett syndrome in a girl with a pericentric x-chromosome inversion leading to epigenetic changes and overexpression of the mecp2 gene. 2016-06-20 2023-08-13 Not clear
José Pedro Vieira, Fátima Lopes, Anabela Silva-Fernandes, Maria Vânia Sousa, Sofia Moura, Susana Sousa, Bruno M Costa, Mafalda Barbosa, Bauke Ylstra, Teresa Temudo, Teresa Lourenço, Patrícia Macie. Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. vol 46. 2016-06-20. PMID:26287660. rett syndrome is a neurodevelopmental disorder caused by mutations in the mecp2 gene. 2016-06-20 2023-08-13 Not clear
Eveline E O Hagebeuk, Carlo L Marcelis, Mariëlle Alders, Ageeth Kaspers, Al W de Weer. Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation. Journal of child neurology. vol 30. issue 11. 2016-06-17. PMID:25762588. clinically cdkl5 patients resemble those with rett syndrome, caused by a mecp2 mutation, who experience a regression, after an initial normal development. 2016-06-17 2023-08-13 Not clear
Kedarlal Sharma, Juhi Singh, Prakash P Pillai, Emma E Fros. Involvement of MeCP2 in Regulation of Myelin-Related Gene Expression in Cultured Rat Oligodendrocytes. Journal of molecular neuroscience : MN. vol 57. issue 2. 2016-06-17. PMID:26140854. methyl cpg binding protein 2 (mecp2) is a multifunctional protein which binds to methylated cpg, mutation of which cause a neurodevelopmental disorder, rett syndrome. 2016-06-17 2023-08-13 rat
Noriyuki Kishi, Jessica L MacDonald, Julia Ye, Bradley J Molyneaux, Eiman Azim, Jeffrey D Mackli. Reduction of aberrant NF-κB signalling ameliorates Rett syndrome phenotypes in Mecp2-null mice. Nature communications. vol 7. 2016-06-17. PMID:26821816. mutations in the transcriptional regulator mecp2 cause the severe x-linked neurodevelopmental disorder rett syndrome (rtt). 2016-06-17 2023-08-13 mouse
Yang Wu, Weiwei Zhong, Ningren Cui, Christopher M Johnson, Hao Xing, Shuang Zhang, Chun Jian. Characterization of Rett Syndrome-like phenotypes in Mecp2-knockout rats. Journal of neurodevelopmental disorders. vol 8. 2016-06-17. PMID:27313794. rett syndrome (rtt) is a neurodevelopmental disease caused by the disruption of the mecp2 gene. 2016-06-17 2023-08-13 mouse
Derek J C Tai, Yen C Liu, Wei L Hsu, Yun L Ma, Sin J Cheng, Shau Y Liu, Eminy H Y Le. MeCP2 SUMOylation rescues Mecp2-mutant-induced behavioural deficits in a mouse model of Rett syndrome. Nature communications. vol 7. 2016-06-15. PMID:26842955. mecp2 sumoylation rescues mecp2-mutant-induced behavioural deficits in a mouse model of rett syndrome. 2016-06-15 2023-08-13 mouse
Derek J C Tai, Yen C Liu, Wei L Hsu, Yun L Ma, Sin J Cheng, Shau Y Liu, Eminy H Y Le. MeCP2 SUMOylation rescues Mecp2-mutant-induced behavioural deficits in a mouse model of Rett syndrome. Nature communications. vol 7. 2016-06-15. PMID:26842955. the methyl-cpg-binding protein 2 (mecp2) gene, mecp2, is an x-linked gene encoding the mecp2 protein, and mutations of mecp2 cause rett syndrome (rtt). 2016-06-15 2023-08-13 mouse
Xin Tang, Julie Kim, Li Zhou, Eric Wengert, Lei Zhang, Zheng Wu, Cassiano Carromeu, Alysson R Muotri, Maria C N Marchetto, Fred H Gage, Gong Che. KCC2 rescues functional deficits in human neurons derived from patients with Rett syndrome. Proceedings of the National Academy of Sciences of the United States of America. vol 113. issue 3. 2016-06-14. PMID:26733678. rett syndrome is a severe form of autism spectrum disorder, mainly caused by mutations of a single gene methyl cpg binding protein 2 (mecp2) on the x chromosome. 2016-06-14 2023-08-13 human
Melissa T Manners, Adam Ertel, Yuzhen Tian, Seena K Aji. Genome-wide redistribution of MeCP2 in dorsal root ganglia after peripheral nerve injury. Epigenetics & chromatin. vol 9. 2016-06-09. PMID:27279901. mutations in mecp2 cause rett syndrome, and these patients display impaired nociception. 2016-06-09 2023-08-13 mouse
Sarah L Williamson, Carolyn J Ellaway, Greg B Peters, Gregory J Pelka, Patrick P L Tam, John Christodoulo. Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype. European journal of human genetics : EJHG. vol 23. issue 9. 2016-05-24. PMID:25424712. rett syndrome (rtt), a neurodevelopmental disorder that predominantly affects females, is primarily caused by variants in mecp2. 2016-05-24 2023-08-13 mouse
Munetsugu Hara, Tomoyuki Takahashi, Chiaki Mitsumasu, Sachiyo Igata, Makoto Takano, Tomoko Minami, Hideo Yasukawa, Satoko Okayama, Keiichiro Nakamura, Yasunori Okabe, Eiichiro Tanaka, Genzou Takemura, Ken-ichiro Kosai, Yushiro Yamashita, Toyojiro Matsuish. Disturbance of cardiac gene expression and cardiomyocyte structure predisposes Mecp2-null mice to arrhythmias. Scientific reports. vol 5. 2016-05-24. PMID:26073556. mutations in mecp2 lead to disrupted neuronal function and can cause rett syndrome (rtt), a neurodevelopmental disorder. 2016-05-24 2023-08-13 mouse
Injoo Kim, Shin Hae Lee, Jinwoo Jeong, Jun Hyung Park, Mi Ae Yoo, Cheol Min Ki. Functional Profiling of Human MeCP2 by Automated Data Comparison Analysis and Computerized Expression Pathway Modeling. Healthcare informatics research. vol 22. issue 2. 2016-05-20. PMID:27200222. mutations in the mecp2 gene cause rett syndrome, a progressive neurodevelopmental disorder. 2016-05-20 2023-08-13 human
Dae-Hyun Jang, Hyojin Chae, Myungshin Ki. Autistic and Rett-like features associated with 2q33.3-q34 interstitial deletion. American journal of medical genetics. Part A. vol 167A. issue 9. 2016-05-19. PMID:25899208. no abnormalities were found on analysis of mecp2 gene for rett syndrome and a dna methylation test for prader-willi syndrome. 2016-05-19 2023-08-13 Not clear
Heather E Olson, Dimira Tambunan, Christopher LaCoursiere, Marti Goldenberg, Rebecca Pinsky, Emilie Martin, Eugenia Ho, Omar Khwaja, Walter E Kaufmann, Annapurna Podur. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. American journal of medical genetics. Part A. vol 167A. issue 9. 2016-05-19. PMID:25914188. rett syndrome and neurodevelopmental disorders with features overlapping this syndrome frequently remain unexplained in patients without clinically identified mecp2 mutations. 2016-05-19 2023-08-13 Not clear
Heather E Olson, Dimira Tambunan, Christopher LaCoursiere, Marti Goldenberg, Rebecca Pinsky, Emilie Martin, Eugenia Ho, Omar Khwaja, Walter E Kaufmann, Annapurna Podur. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. American journal of medical genetics. Part A. vol 167A. issue 9. 2016-05-19. PMID:25914188. we recruited a cohort of 11 patients with features of rett syndrome and negative initial clinical testing for mutations in mecp2. 2016-05-19 2023-08-13 Not clear
Heather E Olson, Dimira Tambunan, Christopher LaCoursiere, Marti Goldenberg, Rebecca Pinsky, Emilie Martin, Eugenia Ho, Omar Khwaja, Walter E Kaufmann, Annapurna Podur. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. American journal of medical genetics. Part A. vol 167A. issue 9. 2016-05-19. PMID:25914188. using 2010 diagnostic criteria, three patients had classical rett syndrome, including two for whom repeat mecp2 gene testing had identified mutations. 2016-05-19 2023-08-13 Not clear