All Relations between Rett Syndrome and mecp2

Publication Sentence Publish Date Extraction Date Species
Christoph A Zimmermann, Anke Hoffmann, Florian Raabe, Dietmar Spengle. Role of mecp2 in experience-dependent epigenetic programming. Genes. vol 6. issue 1. 2015-03-11. PMID:25756305. mutations in the x-linked gene mecp2, the founding member of a family of proteins recognizing and binding to methylated dna, are the genetic cause of a devastating neurodevelopmental disorder in humans, called rett syndrome. 2015-03-11 2023-08-13 mouse
Jalal Gharesouran, Azizeh Farshbaf Khalili, Noushin Sorkhkoh Azari, Leila Vahed. First case report of Rett syndrome in the Azeri Turkish population and brief review of the literature. Epilepsy & behavior case reports. vol 3. 2015-03-04. PMID:25737965. rett syndrome is a dominant x-linked male-lethal disorder largely caused by mutations in the gene encoding methyl-cpg binding protein 2 (mecp2). 2015-03-04 2023-08-13 Not clear
Elisa S Na, Michael J Morris, Erika D Nelson, Lisa M Monteggi. GABAA receptor antagonism ameliorates behavioral and synaptic impairments associated with MeCP2 overexpression. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology. vol 39. issue 8. 2015-02-12. PMID:24549116. loss-of-function mutations in mecp2 results in the neurodevelopmental disorder, rett syndrome, whereas increased expression levels are associated with the neurological disorder, mecp2 duplication syndrome. 2015-02-12 2023-08-12 mouse
Roseline Caumes, Odile Boespflug-Tanguy, Nathalie Villeneuve, Laetitia Lambert, Catherine Delanoe, Bruno Leheup, Nadia Bahi-Buisson, Stéphane Auvi. Late onset epileptic spasms is frequent in MECP2 gene duplication: electroclinical features and long-term follow-up of 8 epilepsy patients. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 18. issue 4. 2015-02-02. PMID:24703762. mutation of the x-linked methyl cpg binding protein 2 (mecp2) has been first identified as the cause of rett syndrome. 2015-02-02 2023-08-13 Not clear
Marija Orlic-Milacic, Liana Kaufman, Anna Mikhailov, Aaron Y L Cheung, Huda Mahmood, James Ellis, Peter J Gianakopoulos, Berge A Minassian, John B Vincen. Over-expression of either MECP2_e1 or MECP2_e2 in neuronally differentiated cells results in different patterns of gene expression. PloS one. vol 9. issue 4. 2015-01-27. PMID:24699272. mutations in mecp2 are responsible for the majority of rett syndrome cases. 2015-01-27 2023-08-13 mouse
Rita El-Khoury, Nicolas Panayotis, Valérie Matagne, Adeline Ghata, Laurent Villard, Jean-Christophe Rou. GABA and glutamate pathways are spatially and developmentally affected in the brain of Mecp2-deficient mice. PloS one. vol 9. issue 3. 2015-01-22. PMID:24667344. rett syndrome (rtt) is a rare genetic disorder caused by mutations in the methyl-cpg binding protein 2 (mecp2) gene affecting the postnatal brain development. 2015-01-22 2023-08-12 mouse
Paolo Petazzi, Naiara Akizu, Alejandra García, Conchi Estarás, Alexia Martínez de Paz, Manuel Rodríguez-Paredes, Marian A Martínez-Balbás, Dori Huertas, Manel Estelle. An increase in MECP2 dosage impairs neural tube formation. Neurobiology of disease. vol 67. 2015-01-06. PMID:24657916. the importance of mecp2 dosage in cns is evident in rett syndrome and mecp2 duplication syndrome, which are neurodevelopmental diseases caused by loss-of-function mutations or duplication of the mecp2 gene, respectively. 2015-01-06 2023-08-12 Not clear
Paolo Petazzi, Naiara Akizu, Alejandra García, Conchi Estarás, Alexia Martínez de Paz, Manuel Rodríguez-Paredes, Marian A Martínez-Balbás, Dori Huertas, Manel Estelle. An increase in MECP2 dosage impairs neural tube formation. Neurobiology of disease. vol 67. 2015-01-06. PMID:24657916. although many studies have been performed on rett syndrome models, little is known about the effects of an increase in mecp2 dosage. 2015-01-06 2023-08-12 Not clear
Vichithra R B Liyanage, Mojgan Rastega. Rett syndrome and MeCP2. Neuromolecular medicine. vol 16. issue 2. 2015-01-05. PMID:24615633. rett syndrome and mecp2. 2015-01-05 2023-08-12 mouse
Vichithra R B Liyanage, Mojgan Rastega. Rett syndrome and MeCP2. Neuromolecular medicine. vol 16. issue 2. 2015-01-05. PMID:24615633. in this review, we will provide a synopsis of rett syndrome as a severe neurological disorder and will discuss the role of mecp2 in rtt pathophysiology. 2015-01-05 2023-08-12 mouse
Yun Li, Haoyi Wang, Julien Muffat, Albert W Cheng, David A Orlando, Jakob Lovén, Show-Ming Kwok, Danielle A Feldman, Helen S Bateup, Qing Gao, Dirk Hockemeyer, Maisam Mitalipova, Caroline A Lewis, Matthew G Vander Heiden, Mriganka Sur, Richard A Young, Rudolf Jaenisc. Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons. Cell stem cell. vol 13. issue 4. 2014-12-30. PMID:24094325. rett syndrome (rtt) is caused by mutations of mecp2, a methyl cpg binding protein thought to act as a global transcriptional repressor. 2014-12-30 2023-08-12 human
Ernest C Y Ho, James H Eubanks, Liang Zhang, Frances K Skinne. Network models predict that reduced excitatory fluctuations can give rise to hippocampal network hyper-excitability in MeCP2-null mice. PloS one. vol 9. issue 3. 2014-12-29. PMID:24642514. rett syndrome is a severe pediatric neurological disorder caused by loss of function mutations within the gene encoding methyl cpg-binding protein 2 (mecp2). 2014-12-29 2023-08-12 mouse
Ernest C Y Ho, James H Eubanks, Liang Zhang, Frances K Skinne. Network models predict that reduced excitatory fluctuations can give rise to hippocampal network hyper-excitability in MeCP2-null mice. PloS one. vol 9. issue 3. 2014-12-29. PMID:24642514. although mecp2 is expressed near ubiquitously, the primary pathophysiology of rett syndrome stems from impairments of nervous system function. 2014-12-29 2023-08-12 mouse
Abhishek Banerjee, Esmeralda Romero-Lorenzo, Mriganka Su. MeCP2: making sense of missense in Rett syndrome. Cell research. vol 23. issue 11. 2014-12-24. PMID:23938294. mecp2: making sense of missense in rett syndrome. 2014-12-24 2023-08-12 Not clear
Abhishek Banerjee, Esmeralda Romero-Lorenzo, Mriganka Su. MeCP2: making sense of missense in Rett syndrome. Cell research. vol 23. issue 11. 2014-12-24. PMID:23938294. an intriguing new study reveals the intricate biochemical complexity of de novo post-translational modifications of mecp2, including activity-dependent protein-protein interactions that 'bridge' the nuclear receptor co-repressor (ncor) complex to chromatin and lead to alterations in gene expression that characterize rett syndrome. 2014-12-24 2023-08-12 Not clear
W A Gold, S L Williamson, S Kaur, I P Hargreaves, J M Land, G J Pelka, P P L Tam, J Christodoulo. Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): implications for the disease phenotype. Mitochondrion. vol 15. 2014-12-19. PMID:24613463. rett syndrome (rtt) is a severe neurodevelopmental disorder, predominantly caused by mutations in the x-linked methyl-cpg-binding protein 2 (mecp2) gene. 2014-12-19 2023-08-12 mouse
Dag H Yasui, Michael L Gonzales, Justin O Aflatooni, Florence K Crary, Daniel J Hu, Bryant J Gavino, Mari S Golub, John B Vincent, N Carolyn Schanen, Carl O Olson, Mojgan Rastegar, Janine M Lasall. Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome. Human molecular genetics. vol 23. issue 9. 2014-12-17. PMID:24352790. mice with an isoform-ablating mecp2 exon 1 mutation recapitulate the neurologic deficits of rett syndrome. 2014-12-17 2023-08-12 mouse
Dag H Yasui, Michael L Gonzales, Justin O Aflatooni, Florence K Crary, Daniel J Hu, Bryant J Gavino, Mari S Golub, John B Vincent, N Carolyn Schanen, Carl O Olson, Mojgan Rastegar, Janine M Lasall. Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome. Human molecular genetics. vol 23. issue 9. 2014-12-17. PMID:24352790. mutations in mecp2 cause the neurodevelopmental disorder rett syndrome (rtt omim 312750). 2014-12-17 2023-08-12 mouse
Claudio De Felice, Marcello Rossi, Silvia Leoncini, Glauco Chisci, Cinzia Signorini, Giuseppina Lonetti, Laura Vannuccini, Donatella Spina, Alessandro Ginori, Ingrid Iacona, Alessio Cortelazzo, Alessandra Pecorelli, Giuseppe Valacchi, Lucia Ciccoli, Tommaso Pizzorusso, Joussef Haye. Inflammatory lung disease in Rett syndrome. Mediators of inflammation. vol 2014. 2014-12-15. PMID:24757286. rett syndrome (rtt) is a pervasive neurodevelopmental disorder mainly linked to mutations in the gene encoding the methyl-cpg-binding protein 2 (mecp2). 2014-12-15 2023-08-13 mouse
J Toloe, R Mollajew, S Kügler, S L Mirono. Metabolic differences in hippocampal 'Rett' neurons revealed by ATP imaging. Molecular and cellular neurosciences. vol 59. 2014-12-14. PMID:24394521. more intense atp turnover in mecp2(-/y) neurons may result from necessity to maintain hippocampal function in rett syndrome. 2014-12-14 2023-08-12 mouse