| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Joshua A R Brown, Maggie Y M Ling, Juan Ausió, LeAnn J How. Human MeCP2 binds to promoters and inhibits transcription in an unmethylated yeast genome. Genetics. 2025-03-18. PMID:40101152. |
a subset of mecp2 mutations that cause the neurodevelopmental disorder rett syndrome, particularly those that map to the dna binding domain, alleviate the toxicity of mecp2 in yeast. |
2025-03-18 |
2025-03-21 |
human |
| Tomer Poleg, Noam Hadar, Gali Heimer, Vadim Dolgin, Ilana Aminov, Amit Safran, Nadav Agam, Matan M Jean, Ofek Freund, Simran Kaur, John Christodoulou, Bruria Ben-Zeev, Ohad S Bir. Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation. NPJ genomic medicine. vol 10. issue 1. 2025-03-14. PMID:40082422. |
unraveling mecp2 structural variants in previously elusive rett syndrome cases through igv interpretation. |
2025-03-14 |
2025-03-16 |
Not clear |
| Tomer Poleg, Noam Hadar, Gali Heimer, Vadim Dolgin, Ilana Aminov, Amit Safran, Nadav Agam, Matan M Jean, Ofek Freund, Simran Kaur, John Christodoulou, Bruria Ben-Zeev, Ohad S Bir. Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation. NPJ genomic medicine. vol 10. issue 1. 2025-03-14. PMID:40082422. |
rett syndrome (rtt) is a severe neurodevelopmental disorder, with mecp2 mutations accounting for 90-95% of classic and 50-70% of atypical cases. |
2025-03-14 |
2025-03-16 |
Not clear |
| Mackenzie Smith, Grace E Dodis, Amanda M Vanderplow, Sonia Gonzalez, Yewon Rhee, Karie Scrogin, Rocco G Gogliott. Potentiation of the M Neurobiology of disease. 2025-02-28. PMID:40021095. |
potentiation of the m rett syndrome (rtt) is a neurodevelopmental disorder that is caused by loss-of-function mutations in the methyl-cpg binding protein 2 (mecp2) gene. |
2025-02-28 |
2025-03-04 |
Not clear |
| Edilene Siqueira, Cecilia D Velasco, Ariadna Tarrasón, Marta Soler, Tara Srinivas, Fernando Setién, Cristina Oliveira-Mateos, Marta Casado-Pelaez, Laura Martinez-Verbo, Judith Armstrong, Manel Esteller, Letícia F Alves, Artur Llobet, Sonia Gui. NEAT1-mediated regulation of proteostasis and mRNA localization impacts autophagy dysregulation in Rett syndrome. Nucleic acids research. vol 53. issue 4. 2025-02-19. PMID:39970285. |
rett syndrome (rtt) is a severe neurodevelopmental disorder primarily caused by loss-of-function mutations in the mecp2 gene, resulting in diverse cellular dysfunctions. |
2025-02-19 |
2025-02-23 |
human |
| Jessica A Cooley Coleman, Bridgette A Moffitt, William C Bridges, Kelly Jones, Melanie May, Cindy Skinner, Michael J Friez, Steven A Skinner, Charles E Schwartz, Luigi Boccut. A novel approach to metabolic profiling in case models of MECP2-related disorders. Metabolic brain disease. vol 40. issue 2. 2025-02-13. PMID:39945871. |
we applied a functional approach to identify metabolic profiles in two patients with rett syndrome (rtt) and one patient with mecp2 duplication syndrome (mrxsl). |
2025-02-13 |
2025-02-15 |
Not clear |
| Edilene Siqueira, Cecilia D Velasco, Ariadna Tarrasón, Marta Soler, Tara Srinivas, Fernando Setién, Cristina Oliveira-Mateos, Marta Casado-Pelaez, Laura Martinez-Verbo, Judith Armstrong, Manel Esteller, Letícia F Alves, Artur Llobet, Sonia Gui. NEAT1-mediated regulation of proteostasis and mRNA localization impacts autophagy dysregulation in Rett syndrome. Nucleic acids research. vol 53. issue 4. 2025-02-08. PMID:39921568. |
rett syndrome (rtt) is a severe neurodevelopmental disorder primarily caused by loss-of-function mutations in the mecp2 gene, resulting in diverse cellular dysfunctions. |
2025-02-08 |
2025-02-11 |
human |
| Yu Chen, Shu-Nan Yang, Guan-Ling Fu, Xiao-Xuan Liu, Xin-Li Xiao, Xiao-Lin Wu, Feng Wu, Yan-Bing Ma, Sheng-Feng Ji, Jin-Song Zhou, Jian-Xin Li. Effects of MeCP2 on chronic seizures and cognitive function in mice with temporal lobe epilepsy. Epilepsy research. vol 210. 2025-01-23. PMID:39848012. |
mutations in methyl cpg binding protein 2 (mecp2) are linked to rett syndrome, in which epilepsy is one of the most well-described disorders. |
2025-01-23 |
2025-01-26 |
mouse |
| Davut Pehlivan, Chengjun Huang, Holly K Harris, Christine Coquery, Aditya Mahat, Mirjana Maletic-Savatic, Laurence Mignon, Sukru Aras, Daniel G Glaze, Charles S Layne, Leonardo Sahelijo, Huda Y Zoghbi, Matthew J McGinley, Bernhard Sute. Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2-allelic disorders. Annals of clinical and translational neurology. 2025-01-22. PMID:39838601. |
rett syndrome (rtt) and mecp2 duplication syndrome (mds) result from under- and overexpression of mecp2, respectively. |
2025-01-22 |
2025-01-24 |
Not clear |
| Silvia Gioiosa, Silvia Gasparini, Carlo Presutti, Arianna Rinaldi, Tiziana Castrignanò, Cecilia Manniron. Integrated gene expression and alternative splicing analysis in human and mouse models of Rett syndrome. Scientific reports. vol 15. issue 1. 2025-01-22. PMID:39843543. |
mutations of the mecp2 gene lead to rett syndrome (rtt), a rare developmental disease causing severe intellectual and physical disability. |
2025-01-22 |
2025-01-25 |
mouse |
| Youngin Jeong, Min Woo Kim, Seul-Gi Lee, Shinhye Park, Kyu Sik Jeong, Yun Hyeong Lee, Suemin Lee, Hyung Min Chung, Jin Kim, C-Yoon Ki. Therapeutic effects of CGS21680, a selective A Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie. vol 183. 2025-01-15. PMID:39813786. |
therapeutic effects of cgs21680, a selective a rett syndrome (rtt) is a neurological disorder caused by a mutation in the x-linked methyl-cpg binding protein 2 (mecp2), leading to cognitive and motor skill regression. |
2025-01-15 |
2025-01-19 |
Not clear |
| Carla Caffarelli, Stefano Gonnell. The Management of Bone Defects in Rett Syndrome. Calcified tissue international. vol 116. issue 1. 2025-01-03. PMID:39751871. |
rett syndrome (rs) is a rare neurodevelopmental disorder primarily caused by mutations in the x-linked methyl-cpg binding protein 2 (mecp2) gene, responsible for encoding mecp2 which plays a pivotal role in regulating gene expression. |
2025-01-03 |
2025-01-05 |
Not clear |
| Sohei Kitazawa, Ryuma Haraguchi, Riko Kitazaw. Roles of osteoclasts in pathological conditions. Pathology international. 2024-12-20. PMID:39704061. |
cortical bone remodeling, regulated by aged osteocytes expressing rankl, is less understood, despite ongoing research into how rett syndrome, characterized by mecp2 abnormalities, affects rankl expression. |
2024-12-20 |
2024-12-22 |
Not clear |
| Sameer S Bajikar, Jian Zhou, Ryan O'Hara, Harini P Tirumala, Mark A Durham, Alexander J Trostle, Michelle Dias, Yingyao Shao, Hu Chen, Wei Wang, Hari Krishna Yalamanchili, Ying-Wooi Wan, Laura A Banaszynski, Zhandong Liu, Huda Y Zoghb. Acute MeCP2 loss in adult mice reveals transcriptional and chromatin changes that precede neurological dysfunction and inform pathogenesis. Neuron. 2024-12-17. PMID:39689710. |
mutations in the x-linked methyl-cpg-binding protein 2 (mecp2) gene cause rett syndrome, a severe childhood neurological disorder. |
2024-12-17 |
2024-12-21 |
mouse |
| Gyan Prakash Mishra, Eric X Sun, Tiffany Chin, Mandy Eckhardt, Michael E Greenberg, Hume Strou. Interaction of methyl-CpG-binding protein 2 (MeCP2) with distinct enhancers in the mouse cortex. Nature neuroscience. 2024-11-23. PMID:39578572. |
mutations in methyl-cpg-binding protein 2 (mecp2) cause rett syndrome. |
2024-11-23 |
2024-11-25 |
mouse |
| Gyan Prakash Mishra, Eric X Sun, Tiffany Chin, Mandy Eckhardt, Michael E Greenberg, Hume Strou. Interaction of methyl-CpG-binding protein 2 (MeCP2) with distinct enhancers in the mouse cortex. Nature neuroscience. 2024-11-23. PMID:39578572. |
hence, disruption of intragenic methylation-independent gene regulation by mecp2 may in part underlie rett syndrome. |
2024-11-23 |
2024-11-25 |
mouse |
| Saskia Lesire, Rodrigo Lata, Yannick Hoogvliets, Kune Herrebosch, Paulien Van De Velde, Anouk Speleers, Frauke Christ, Siska Van Belle, Zeger Debyse. LEDGF interacts with the NID domain of MeCP2 and modulates MeCP2 condensates. Structure (London, England : 1993). 2024-11-05. PMID:39500316. |
loss-of-function mutations in the mecp2 gene are the main cause of rett syndrome (rtt). |
2024-11-05 |
2024-11-08 |
Not clear |
| M Galán-Olleros, E González-Alguacil, V Soto-Insuga, M T Vara-Arias, N V Ortiz-Cabrera, R M Egea-Gámez, J J García-Peñas, I Martínez-Caballer. Prevalence of orthopaedic conditions in Rett syndrome: a systematic review and meta-analysis. Journal of intellectual disability research : JIDR. 2024-10-21. PMID:39429113. |
rett syndrome (rtt), a developmental disorder primarily affecting girls and linked to methyl-cpg binding protein-2 (mecp2) gene mutations, presents musculoskeletal abnormalities with varying prevalence across studies and age groups. |
2024-10-21 |
2024-10-23 |
Not clear |
| Tatsuya Osaki, Zhengpeng Wan, Koji Haratani, Ylliah Jin, Macro Campisi, David A Barbie, Roger D Kamm, Mriganka Su. miR126-mediated impaired vascular integrity in Rett syndrome. bioRxiv : the preprint server for biology. 2024-10-17. PMID:39415995. |
rett syndrome (rtt) is a neurodevelopmental disorder that is caused by mutations in melty-cpg binding protein 2 (mecp2). |
2024-10-17 |
2024-10-19 |
Not clear |
| Tatsuya Osaki, Zhengpeng Wan, Koji Haratani, Ylliah Jin, Macro Campisi, David A Barbie, Roger D Kamm, Mriganka Su. miR126-mediated impaired vascular integrity in Rett syndrome. bioRxiv : the preprint server for biology. 2024-10-17. PMID:39415995. |
here, we recapitulate a microvascular network using rett syndrome patient-derived induced pluripotent stem (ips) cells that carry mecp2[r306c] mutation to investigate early developmental vascular impact. |
2024-10-17 |
2024-10-19 |
Not clear |