| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jean J Kim, Jeffrey N Savas, Meghan T Miller, Xindao Hu, Cassiano Carromeu, Mathieu Lavallée-Adam, Beatriz C G Freitas, Alysson R Muotri, John R Yates, Anirvan Ghos. Proteomic analyses reveal misregulation of LIN28 expression and delayed timing of glial differentiation in human iPS cells with MECP2 loss-of-function. PloS one. vol 14. issue 2. 2019-11-25. PMID:30789962. |
rett syndrome (rtt) is a pervasive developmental disorder caused by mutations in mecp2. |
2019-11-25 |
2023-08-13 |
human |
| Elena Martínez-Rodríguez, Ana Martín-Sánchez, Simona Coviello, Cristina Foiani, Emre Kul, Oliver Stork, Fernando Martínez-García, Juan Nacher, Enrique Lanuza, Mónica Santos, Carmen Agustín-Pavó. Lack of MeCP2 leads to region-specific increase of doublecortin in the olfactory system. Brain structure & function. vol 224. issue 4. 2019-11-21. PMID:30923887. |
the x-linked gene mecp2, associated to several neurodevelopmental disorders such as rett syndrome, encodes the protein methyl-cpg-binding protein 2 (mecp2), a regulatory protein that has been implicated in neuronal maturation and refinement of olfactory circuits. |
2019-11-21 |
2023-08-13 |
mouse |
| Christie M Buchovecky, Misty G Hill, Jennifer M Borkey, Stephanie M Kyle, Monica J Justic. A protocol for evaluation of Rett Syndrome symptom improvement by metabolic modulators in Current protocols in mouse biology. vol 2013. 2019-11-20. PMID:25506514. |
a protocol for evaluation of rett syndrome symptom improvement by metabolic modulators in mouse models recapitulate many symptoms of rett syndrome, an x-linked disorder caused by mutations in methyl-cpg-binding protein 2 (mecp2). |
2019-11-20 |
2023-08-13 |
mouse |
| Irina Stancheva, Anne L Collins, Ingatia B Van den Veyver, Huda Zoghbi, Richard R Meeha. A Mutant Form of MeCP2 Protein Associated with Human Rett Syndrome Cannot Be Displaced from Methylated DNA by Notch in Xenopus Embryos. Molecular cell. vol 63. issue 1. 2019-11-20. PMID:27392147. |
a mutant form of mecp2 protein associated with human rett syndrome cannot be displaced from methylated dna by notch in xenopus embryos. |
2019-11-20 |
2023-08-13 |
human |
| Xiao Zhou, Yuangao Liao, Miaojing Xu, Zhong Ji, Yunqi Xu, Liang Zhou, Xiaoming Wei, Peiqian Hu, Peng Han, Fanghan Yang, Suyue Pan, Yafang H. A novel mutation R190H in the AT-hook 1 domain of MeCP2 identified in an atypical Rett syndrome. Oncotarget. vol 8. issue 47. 2019-11-20. PMID:29137252. |
a novel mutation r190h in the at-hook 1 domain of mecp2 identified in an atypical rett syndrome. |
2019-11-20 |
2023-08-13 |
Not clear |
| S Vidal, N Brandi, P Pacheco, J Maynou, G Fernandez, C Xiol, A Pascual-Alonso, M Pineda, J Armstron. The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 23. issue 4. 2019-11-18. PMID:31105003. |
rett syndrome (rtt) is an early-onset neurodevelopmental disorder that is caused by mutations in the mecp2 gene; however, defects in other genes (cdkl5 and foxg1) can lead to presentations that resemble classic rtt, although they are not completely identical. |
2019-11-18 |
2023-08-13 |
Not clear |
| Siddharth Srivastava, Sonal Desai, Julie Cohen, Constance Smith-Hicks, Kristin Barañano, Ali Fatemi, SakkuBai Naid. Monogenic disorders that mimic the phenotype of Rett syndrome. Neurogenetics. vol 19. issue 1. 2019-10-03. PMID:29322350. |
rett syndrome (rtt) is caused by mutations in methyl-cpg-binding protein 2 (mecp2), but defects in a handful of other genes (e.g., cdkl5, foxg1, mef2c) can lead to presentations that resemble, but do not completely mirror, classical rtt. |
2019-10-03 |
2023-08-13 |
Not clear |
| Alyssa M Merbler, Breanne J Byiers, John J Garcia, Timothy J Feyma, Frank J Symon. The feasibility of using actigraphy to characterize sleep in Rett syndrome. Journal of neurodevelopmental disorders. vol 10. issue 1. 2019-10-03. PMID:29482495. |
rett syndrome (rtt) is a neurodevelopmental disorder primarily caused by mutations in the mecp2 gene. |
2019-10-03 |
2023-08-13 |
Not clear |
| Shota Fukuhara, Hisakazu Nakajima, Satoru Sugimoto, Kazuki Kodo, Keiichi Shigehara, Hidechika Morimoto, Yusuke Tsuma, Masaharu Moroto, Jun Mori, Kitaro Kosaka, Masafumi Morimoto, Hajime Hoso. High-fat diet accelerates extreme obesity with hyperphagia in female heterozygous Mecp2-null mice. PloS one. vol 14. issue 1. 2019-09-30. PMID:30608967. |
rett syndrome (rtt) is an x-linked neurodevelopmental disorder caused by mutation of the methyl-cpg-binding protein 2 (mecp2) gene. |
2019-09-30 |
2023-08-13 |
mouse |
| Valerie Matagne, Joyce Wondolowski, Matthew Frerking, Mohammad Shahidullah, Nicholas A Delamere, Ursula S Sandau, Sarojini Budden, Sergio R Ojed. Correcting deregulated Fxyd1 expression rescues deficits in neuronal arborization and potassium homeostasis in MeCP2 deficient male mice. Brain research. vol 1697. 2019-09-27. PMID:29902467. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations in the mecp2 gene. |
2019-09-27 |
2023-08-13 |
mouse |
| Abhishek Banerjee, Meghan T Miller, Keji Li, Mriganka Sur, Walter E Kaufman. Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder. Brain : a journal of neurology. vol 142. issue 2. 2019-09-19. PMID:30649225. |
with the recent 50th anniversary of the first publication on rett syndrome, and the almost 20 years since the first report on the link between rett syndrome and mecp2 mutations, it is important to reflect on the tremendous advances in our understanding and their implications for the diagnosis and treatment of this neurodevelopmental disorder. |
2019-09-19 |
2023-08-13 |
Not clear |
| Eunice W M Chin, Wee Meng Lim, Dongliang Ma, Francisco J Rosales, Eyleen L K Go. Choline Rescues Behavioural Deficits in a Mouse Model of Rett Syndrome by Modulating Neuronal Plasticity. Molecular neurobiology. vol 56. issue 6. 2019-08-29. PMID:30220058. |
rett syndrome (rtt) is a postnatal neurodevelopmental disorder that primarily affects girls, with 95% of rtt cases resulting from mutations in the methyl-cpg-binding protein 2 (mecp2) gene. |
2019-08-29 |
2023-08-13 |
mouse |
| Jacque P K Ip, Nikolaos Mellios, Mriganka Su. Rett syndrome: insights into genetic, molecular and circuit mechanisms. Nature reviews. Neuroscience. vol 19. issue 6. 2019-08-26. PMID:29740174. |
rett syndrome (rtt) is a severe neurological disorder caused by mutations in the gene encoding methyl-cpg-binding protein 2 (mecp2). |
2019-08-26 |
2023-08-13 |
Not clear |
| Vichithra R B Liyanage, Carl O Olson, Robby M Zachariah, James R Davie, Mojgan Rastega. DNA Methylation Contributes to the Differential Expression Levels of International journal of molecular sciences. vol 20. issue 8. 2019-08-08. PMID:31013990. |
accordingly, mecp2 loss- or gain-of-function mutation causes neurodevelopmental disorders, including rett syndrome (rtt), |
2019-08-08 |
2023-08-13 |
Not clear |
| Minori Ohashi, Elena Korsakova, Denise Allen, Peiyee Lee, Kai Fu, Benni S Vargas, Jessica Cinkornpumin, Carlos Salas, Jenny C Park, Igal Germanguz, Justin Langerman, Contantinos Chronis, Edward Kuoy, Stephen Tran, Xinshu Xiao, Matteo Pellegrini, Kathrin Plath, William E Lowr. Loss of MECP2 Leads to Activation of P53 and Neuronal Senescence. Stem cell reports. vol 10. issue 5. 2019-08-06. PMID:29742391. |
to determine the role for mutations of mecp2 in rett syndrome, we generated isogenic lines of human induced pluripotent stem cells, neural progenitor cells, and neurons from patient fibroblasts with and without mecp2 expression in an attempt to recapitulate disease phenotypes in vitro. |
2019-08-06 |
2023-08-13 |
human |
| Wenlin Lia. Psychomotor Dysfunction in Rett Syndrome: Insights into the Neurochemical and Circuit Roots. Developmental neurobiology. vol 79. issue 1. 2019-07-30. PMID:30430747. |
rett syndrome (rtt) is a monogenic neurodevelopmental disorder caused by mutations in the methyl-cpg binding protein 2 (mecp2) gene. |
2019-07-30 |
2023-08-13 |
Not clear |
| Chu Chu, Zhaohui Yang, Jiayin Yang, Li Yan, Chenyang Si, Yu Kang, Zhenzhen Chen, Yongchang Chen, Weizhi Ji, Yuyu Ni. Homologous recombination-mediated targeted integration in monkey embryos using TALE nucleases. BMC biotechnology. vol 19. issue 1. 2019-07-30. PMID:30646876. |
subsequently, we characterized the phenotype of a methyl cpg binding protein 2 (mecp2)-mutant cynomolgus monkey model of rett syndrome generated using the talen approach. |
2019-07-30 |
2023-08-13 |
human |
| Hiroshi Kida, Tomoyuki Takahashi, Yuki Nakamura, Takashi Kinoshita, Munetsugu Hara, Masaki Okamoto, Satoko Okayama, Keiichiro Nakamura, Ken-Ichiro Kosai, Takayuki Taniwaki, Yushiro Yamashita, Toyojiro Matsuish. Pathogenesis of Lethal Aspiration Pneumonia in Mecp2-null Mouse Model for Rett Syndrome. Scientific reports. vol 7. issue 1. 2019-07-16. PMID:28931890. |
rett syndrome (rtt) is a neurodevelopmental disorder mainly caused by mutations in the gene encoding the transcriptional regulator methyl-cpg-binding protein 2 (mecp2), located on the x chromosome. |
2019-07-16 |
2023-08-13 |
mouse |
| Diego Sbardella, Grazia Raffaella Tundo, Luisa Campagnolo, Giuseppe Valacchi, Augusto Orlandi, Paolo Curatolo, Giovanna Borsellino, Maurizio D'Esposito, Chiara Ciaccio, Silvia Di Cesare, Donato Di Pierro, Cinzia Galasso, Marta Elena Santarone, Joussef Hayek, Massimiliano Coletta, Stefano Marin. Retention of Mitochondria in Mature Human Red Blood Cells as the Result of Autophagy Impairment in Rett Syndrome. Scientific reports. vol 7. issue 1. 2019-07-16. PMID:28951555. |
rett syndrome (rtt), which affects approximately 1:10.000 live births, is a x-linked pervasive neuro-developmental disorder which is caused, in the vast majority of cases, by a sporadic mutation in the methyl-cpg-binding protein-2 (mecp2) gene. |
2019-07-16 |
2023-08-13 |
mouse |
| Yonatan Perez, Shay Menascu, Idan Cohen, Rotem Kadir, Omer Basha, Zamir Shorer, Hila Romi, Gal Meiri, Tatiana Rabinski, Rivka Ofir, Esti Yeger-Lotem, Ohad S Bir. RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3. Brain : a journal of neurology. vol 141. issue 4. 2019-06-28. PMID:29522154. |
notably, patient neural progenitor cells had 9.6-fold downregulated expression of igfbp3, whose brain expression is affected by mecp2, aberrant in rett syndrome. |
2019-06-28 |
2023-08-13 |
mouse |