| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Joni N Saby, Sarika U Peters, Timothy P L Roberts, Charles A Nelson, Eric D Mars. Evoked Potentials and EEG Analysis in Rett Syndrome and Related Developmental Encephalopathies: Towards a Biomarker for Translational Research. Frontiers in integrative neuroscience. vol 14. 2021-09-03. PMID:32547374. |
in addition to summarizing the human work on rett syndrome, we also describe relevant studies with animal models and the limited research that has been carried out on rett-related disorders, particularly methyl-cpg binding protein 2 (mecp2) duplication syndrome, cdkl5 deficiency disorder, and foxg1 disorder. |
2021-09-03 |
2023-08-13 |
human |
| Shayan Khalili Alashti, Jafar Fallahi, Arezoo Jokar, Majid Fardae. CRISPR/Cas9 knock-in toward creating a Rett syndrome cell model with a synonymous mutation in the MECP2 gene. The journal of gene medicine. vol 22. issue 11. 2021-08-31. PMID:32761967. |
crispr/cas9 knock-in toward creating a rett syndrome cell model with a synonymous mutation in the mecp2 gene. |
2021-08-31 |
2023-08-13 |
Not clear |
| Shayan Khalili Alashti, Jafar Fallahi, Arezoo Jokar, Majid Fardae. CRISPR/Cas9 knock-in toward creating a Rett syndrome cell model with a synonymous mutation in the MECP2 gene. The journal of gene medicine. vol 22. issue 11. 2021-08-31. PMID:32761967. |
rett syndrome is an x-linked dominant neurodevelopmental disease caused by mutation in the methyl-cpg-binding protein 2 (mecp2) gene. |
2021-08-31 |
2023-08-13 |
Not clear |
| Shayan Khalili Alashti, Jafar Fallahi, Arezoo Jokar, Majid Fardae. CRISPR/Cas9 knock-in toward creating a Rett syndrome cell model with a synonymous mutation in the MECP2 gene. The journal of gene medicine. vol 22. issue 11. 2021-08-31. PMID:32761967. |
the present study aimed to establish a cell model of rett syndrome with the mecp2 synonymous mutation c.354g>t (p.gly118gly). |
2021-08-31 |
2023-08-13 |
Not clear |
| Jonathan K Merritt, Bridget E Collins, Kirsty R Erickson, Hongwei Dong, Jeffrey L Neu. Pharmacological read-through of R294X Mecp2 in a novel mouse model of Rett syndrome. Human molecular genetics. vol 29. issue 15. 2021-08-30. PMID:32469049. |
pharmacological read-through of r294x mecp2 in a novel mouse model of rett syndrome. |
2021-08-30 |
2023-08-13 |
mouse |
| Jonathan K Merritt, Bridget E Collins, Kirsty R Erickson, Hongwei Dong, Jeffrey L Neu. Pharmacological read-through of R294X Mecp2 in a novel mouse model of Rett syndrome. Human molecular genetics. vol 29. issue 15. 2021-08-30. PMID:32469049. |
rett syndrome (rtt) is a neurodevelopmental disorder primarily caused by mutations in methyl-cpg-binding protein 2 (mecp2). |
2021-08-30 |
2023-08-13 |
mouse |
| Deivid Carvalho Rodrigues, Marat Mufteev, James Elli. Regulation, diversity and function of MECP2 exon and 3'UTR isoforms. Human molecular genetics. vol 29. issue R1. 2021-08-30. PMID:32681172. |
mutations in mecp2 cause neurodevelopmental disorders including rett syndrome (rtt). |
2021-08-30 |
2023-08-13 |
Not clear |
| Breanne J Byiers, Ameante Payen, Timothy Feyma, Angela Panoskaltsis-Mortari, Michael J Ehrhardt, Frank J Symon. Associations Among Diurnal Salivary Cortisol Patterns, Medication Use, and Behavioral Phenotype Features in a Community Sample of Rett Syndrome. American journal on intellectual and developmental disabilities. vol 125. issue 5. 2021-08-25. PMID:32936892. |
rett syndrome (rtt) is a severe neurodevelopmental disorder resulting from mutations of the mecp2 gene. |
2021-08-25 |
2023-08-13 |
Not clear |
| Angelisa Frasca, Eleonora Spiombi, Michela Palmieri, Elena Albizzati, Maria Maddalena Valente, Anna Bergo, Barbara Leva, Charlotte Kilstrup-Nielsen, Federico Bianchi, Valerio Di Carlo, Ferdinando Di Cunto, Nicoletta Landsberge. MECP2 mutations affect ciliogenesis: a novel perspective for Rett syndrome and related disorders. EMBO molecular medicine. vol 12. issue 6. 2021-08-18. PMID:32383329. |
mecp2 mutations affect ciliogenesis: a novel perspective for rett syndrome and related disorders. |
2021-08-18 |
2023-08-13 |
mouse |
| Angelisa Frasca, Eleonora Spiombi, Michela Palmieri, Elena Albizzati, Maria Maddalena Valente, Anna Bergo, Barbara Leva, Charlotte Kilstrup-Nielsen, Federico Bianchi, Valerio Di Carlo, Ferdinando Di Cunto, Nicoletta Landsberge. MECP2 mutations affect ciliogenesis: a novel perspective for Rett syndrome and related disorders. EMBO molecular medicine. vol 12. issue 6. 2021-08-18. PMID:32383329. |
mutations in mecp2 cause several neurological disorders of which rett syndrome (rtt) represents the best-defined condition. |
2021-08-18 |
2023-08-13 |
mouse |
| Christopher M Johnson, Ningren Cui, Hao Xing, Yang Wu, Chun Jian. The antitussive cloperastine improves breathing abnormalities in a Rett Syndrome mouse model by blocking presynaptic GIRK channels and enhancing GABA release. Neuropharmacology. vol 176. 2021-08-13. PMID:32622786. |
rett syndrome (rtt) is an x-linked neurodevelopmental disorder caused mainly by mutations in the mecp2 gene. |
2021-08-13 |
2023-08-13 |
mouse |
| Claudia Villani, Giuseppina Sacchetti, Mirjana Carli, Roberto W Invernizz. Fluoxetine rescues rotarod motor deficits in Mecp2 heterozygous mouse model of Rett syndrome via brain serotonin. Neuropharmacology. vol 176. 2021-08-13. PMID:32652084. |
fluoxetine rescues rotarod motor deficits in mecp2 heterozygous mouse model of rett syndrome via brain serotonin. |
2021-08-13 |
2023-08-13 |
mouse |
| Claudia Villani, Giuseppina Sacchetti, Mirjana Carli, Roberto W Invernizz. Fluoxetine rescues rotarod motor deficits in Mecp2 heterozygous mouse model of Rett syndrome via brain serotonin. Neuropharmacology. vol 176. 2021-08-13. PMID:32652084. |
motor skill is a specific area of disability of rett syndrome (rtt), a rare disorder occurring almost exclusively in girls, caused by loss-of-function mutations of the x-linked methyl-cpg-binding protein2 (mecp2) gene, encoding the mecp2 protein, a member of the methyl-cpg-binding domain nuclear proteins family. |
2021-08-13 |
2023-08-13 |
mouse |
| David V C Brito, Kubra Gulmez Karaca, Janina Kupke, Lukas Frank, Ana M M Oliveir. MeCP2 gates spatial learning-induced alternative splicing events in the mouse hippocampus. Molecular brain. vol 13. issue 1. 2021-08-05. PMID:33203444. |
this study provides new insight into how mecp2 regulates brain function, particularly cognitive abilities, and sheds light onto the pathophysiological mechanisms of rett syndrome, that is characterized by intellectual disability and caused by mutations in the mecp2 gene. |
2021-08-05 |
2023-08-13 |
mouse |
| Abdulkhaleg Ibrahim, Christophe Papin, Kareem Mohideen-Abdul, Stéphanie Le Gras, Isabelle Stoll, Christian Bronner, Stefan Dimitrov, Bruno P Klaholz, Ali Hamich. MeCP2 is a microsatellite binding protein that protects CA repeats from nucleosome invasion. Science (New York, N.Y.). vol 372. issue 6549. 2021-08-05. PMID:34324427. |
the rett syndrome protein mecp2 was described as a methyl-cpg-binding protein, but its exact function remains unknown. |
2021-08-05 |
2023-08-13 |
mouse |
| Yann Ehinger, Julie Bruyère, Nicolas Panayotis, Yah-Se Abada, Emilie Borloz, Valérie Matagne, Chiara Scaramuzzino, Hélène Vitet, Benoit Delatour, Lydia Saidi, Laurent Villard, Frédéric Saudou, Jean-Christophe Rou. Huntingtin phosphorylation governs BDNF homeostasis and improves the phenotype of Mecp2 knockout mice. EMBO molecular medicine. vol 12. issue 2. 2021-07-27. PMID:31913581. |
mutations in the x-linked mecp2 gene are responsible for rett syndrome (rtt), a severe neurological disorder for which there is no treatment. |
2021-07-27 |
2023-08-13 |
mouse |
| David Ortega-Alarcon, Rafael Claveria-Gimeno, Sonia Vega, Olga C Jorge-Torres, Manel Esteller, Olga Abian, Adrian Velazquez-Campo. Influence of the disordered domain structure of MeCP2 on its structural stability and dsDNA interaction. International journal of biological macromolecules. vol 175. 2021-07-22. PMID:33548325. |
mecp2 deregulation results in two neurodevelopmental disorders: mecp2 dysfunction is associated with rett syndrome, while excess of activity is associated with mecp2 duplication syndrome. |
2021-07-22 |
2023-08-13 |
Not clear |
| Liang Wang, Mingli Hu, Mei-Qing Zuo, Jicheng Zhao, Di Wu, Li Huang, Yongxin Wen, Yunfan Li, Ping Chen, Xinhua Bao, Meng-Qiu Dong, Guohong Li, Pilong L. Rett syndrome-causing mutations compromise MeCP2-mediated liquid-liquid phase separation of chromatin. Cell research. vol 30. issue 5. 2021-07-19. PMID:32111972. |
rett syndrome (rtt), a severe postnatal neurodevelopmental disorder, is caused by mutations in the x-linked gene encoding methyl-cpg-binding protein 2 (mecp2). |
2021-07-19 |
2023-08-13 |
Not clear |
| Yongxin Wen, Jiaping Wang, Qingping Zhang, Yan Chen, Xiru Wu, Xinhua Ba. MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort. Clinical genetics. vol 98. issue 3. 2021-07-12. PMID:32472557. |
the dysfunction of methyl-cpg-binding protein 2 (mecp2) is associated with several neurological disorders, of which rett syndrome (rtt) is the most prominent. |
2021-07-12 |
2023-08-13 |
Not clear |
| Elena Martínez-Rodríguez, Ana Martín-Sánchez, Emre Kul, Aparajita Bose, Francisco José Martínez-Martínez, Oliver Stork, Fernando Martínez-García, Enrique Lanuza, Mónica Santos, Carmen Agustín-Pavó. Male-specific features are reduced in Mecp2-null mice: analyses of vasopressinergic innervation, pheromone production and social behaviour. Brain structure & function. vol 225. issue 7. 2021-07-06. PMID:32749543. |
mutations in the x-linked methyl-cpg-binding protein 2 (mecp2) gene are associated to rett syndrome and other neuropsychiatric conditions. |
2021-07-06 |
2023-08-13 |
mouse |