| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Qi Wang, Bin Tang, Shuang Hao, Zhenyu Wu, Tingting Yang, Jianrong Tan. Forniceal deep brain stimulation in a mouse model of Rett syndrome increases neurogenesis and hippocampal memory beyond the treatment period. Brain stimulation. 2023-09-13. PMID:37704033. |
rett syndrome (rtt), caused by mutations in the x-linked gene encoding methyl-cpg binding protein 2 (mecp2), severely impairs learning and memory. |
2023-09-13 |
2023-10-07 |
mouse |
| Alexia Tiberi, Giulia Borgonovo, Giovanna Testa, Paola Pacifico, Ajesh Jacob, Mariachiara Di Caprio, Valentino Totaro, Mariantonietta Calvello, Antonino Cattaneo, Simona Capson. Reversal of neurological deficits by painless nerve growth factor in a mouse model of Rett syndrome. Brain : a journal of neurology. 2023-08-26. PMID:37633263. |
rett syndrome is a rare genetic neurodevelopmental disease, affecting 1 in over 10,000 females born worldwide, caused by de novo mutations in the x-chromosome-located methyl-cpg-binding protein 2 (mecp2) gene. |
2023-08-26 |
2023-09-07 |
mouse |
| Oskar Komisarek, Roksana Malak, Aleksandra Śledzińska, Paulina Śledzińska, Ewa Mojs, Maja Matthews-Kozanecka, Włodzimierz Samborsk. The use of botulinum toxin for grinding in patients with Rett syndrome-Case report. Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry. 2023-08-23. PMID:37608434. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by a mutation in the methyl-cpg-binding protein 2 (mecp2) gene. |
2023-08-23 |
2023-09-07 |
Not clear |
| Olga Sysoeva, Vladimir Maximenko, Alexander Kuc, Victoria Voinova, Olga Martynova, Alexander Hramo. Abnormal spectral and scale-free properties of resting-state EEG in girls with Rett syndrome. Scientific reports. vol 13. issue 1. 2023-08-09. PMID:37558701. |
rett syndrome (rtt) is a rare neurodevelopmental disorder, caused by mutation in the mecp2 gene. |
2023-08-09 |
2023-08-16 |
Not clear |
| Mari Akiyama, Tomoyuki Akiyama, Hirotomo Saitsu, Yukie Tokioka, Rie Tsukahara, Hiroki Tsuchiya, Takashi Shibata, Katsuhiro Kobayash. A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation. Brain & development. 2023-08-07. PMID:37550174. |
mecp2 is a well-known causative gene for rett syndrome but other phenotypes have also been reported. |
2023-08-07 |
2023-08-14 |
Not clear |
| Jianmin Liang, Cuijuan Xin, Meiying Xin, Guangliang Wang, Xuemei W. An insertion mutation of the MECP2 gene in severe neonatal encephalopathy and ocular and oropharyngeal dyskinesia: a case report. BMC medical genomics. vol 16. issue 1. 2023-08-03. PMID:37537631. |
pathogenic variation of the mecp2 gene presents mostly as rett syndrome in females and is extremely rare in males. |
2023-08-03 |
2023-08-14 |
Not clear |
| Samantha Powers, Shibi Likhite, Kamal K Gadalla, Carlos J Miranda, Amy J Huffenberger, Cassandra Dennys, Kevin D Foust, Pablo Morales, Christopher R Pierson, Federica Rinaldi, Stephanie Perry, Brad Bolon, Nicolas Wein, Stuart Cobb, Brian K Kaspar, Kathrin Meye. Novel MeCP2 Gene Therapy is Effective in a Multicenter Study using Two Mouse Models of Rett Syndrome and is Safe in Non-human Primates. Molecular therapy : the journal of the American Society of Gene Therapy. 2023-07-23. PMID:37481701. |
novel mecp2 gene therapy is effective in a multicenter study using two mouse models of rett syndrome and is safe in non-human primates. |
2023-07-23 |
2023-08-14 |
mouse |
| Samantha Powers, Shibi Likhite, Kamal K Gadalla, Carlos J Miranda, Amy J Huffenberger, Cassandra Dennys, Kevin D Foust, Pablo Morales, Christopher R Pierson, Federica Rinaldi, Stephanie Perry, Brad Bolon, Nicolas Wein, Stuart Cobb, Brian K Kaspar, Kathrin Meye. Novel MeCP2 Gene Therapy is Effective in a Multicenter Study using Two Mouse Models of Rett Syndrome and is Safe in Non-human Primates. Molecular therapy : the journal of the American Society of Gene Therapy. 2023-07-23. PMID:37481701. |
additionally, this new vector is highly efficacious at lower doses compared to previous constructs as demonstrated in extensive efficacy studies performed by two independent laboratories in two different rett syndrome mouse models carrying either a knockout or one of the most frequent human mutations of mecp2. |
2023-07-23 |
2023-08-14 |
mouse |
| Ana P M Canton, Flávia R Tinano, Leonardo Guasti, Luciana R Montenegro, Fiona Ryan, Deborah Shears, Maria Edna de Melo, Larissa G Gomes, Mariana P Piana, Raja Brauner, Rafael Espino-Aguilar, Arancha Escribano-Muñoz, Alyssa Paganoni, Jordan E Read, Márta Korbonits, Carlos E Seraphim, Silvia S Costa, Ana Cristina Krepischi, Alexander A L Jorge, Alessia David, Lena R Kaisinger, Ken K Ong, John R B Perry, Ana Paula Abreu, Ursula B Kaiser, Jesús Argente, Berenice B Mendonca, Vinicius N Brito, Sasha R Howard, Ana Claudia Latronic. Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study. The lancet. Diabetes & endocrinology. 2023-06-29. PMID:37385287. |
mecp2 loss-of-function mutations usually cause rett syndrome, a severe neurodevelopmental disorder. |
2023-06-29 |
2023-08-14 |
human |
| Gabriella N L Chua, John W Watters, Paul Dominic B Olinares, Joshua A Luo, Brian T Chait, Shixin Li. Differential dynamics specify MeCP2 function at methylated DNA and nucleosomes. bioRxiv : the preprint server for biology. 2023-06-19. PMID:37333354. |
methyl-cpg-binding protein 2 (mecp2) is an essential chromatin-binding protein whose mutations cause rett syndrome (rtt), a leading cause of monogenic intellectual disabilities in females. |
2023-06-19 |
2023-08-14 |
Not clear |
| Hyowon Hong, Sae-Bom Yoon, Jung Eun Park, Jung In Lee, Hyun Young Kim, Hye Jin Nam, Heeyeong Ch. MeCP2 dysfunction prevents proper BMP signaling and neural progenitor expansion in brain organoid. Annals of clinical and translational neurology. 2023-06-11. PMID:37302988. |
sporadic mutations in mecp2 are a hallmark of rett syndrome (rtt). |
2023-06-11 |
2023-08-14 |
Not clear |
| Yongxin Wen, Jiaping Wang, Qingping Zhang, Xiaoxu Yang, Liping Wei, Xinhua Ba. MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males. BMC medicine. vol 21. issue 1. 2023-04-20. PMID:37081442. |
mecp2 germline mosaicism plays an important part in the inheritance of rett syndrome: a study of mecp2 germline mosaicism in males. |
2023-04-20 |
2023-08-14 |
Not clear |
| Yongxin Wen, Jiaping Wang, Qingping Zhang, Xiaoxu Yang, Liping Wei, Xinhua Ba. MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males. BMC medicine. vol 21. issue 1. 2023-04-20. PMID:37081442. |
paternal germline mecp2 mosaicism has been reported in fathers of girls with rett syndrome (rtt) previously. |
2023-04-20 |
2023-08-14 |
Not clear |
| Richard J Epstein, Frank P Y Lin, Robert A Brink, James Blackbur. Synonymous alterations of cancer-associated Trp53 CpG mutational hotspots cause fatal developmental jaw malocclusions but no tumors in knock-in mice. PloS one. vol 18. issue 4. 2023-04-13. PMID:37053216. |
since the latter phenotype also characterises murine rett syndrome due to dysfunction of the trans-repressive mecp2 methyl-cpg-binding protein, we hypothesise that cpg sites may exert non-coding phenotypic effects via pre-translational cis-interactions of 5-methylcytosine with methyl-binding proteins which regulate mrna transcript initiation, expression or splicing, although direct effects on mrna structure or translation are also possible. |
2023-04-13 |
2023-08-14 |
mouse |
| Michael Mykins, Dana Layo-Carris, Logan Reid Dunn, David Wilson Skinner, Alexandra Hart McBryar, Sarah Perez, Trinity Rose Shultz, Andrew Willems, Billy You Bun Lau, Tian Hong, Keerthi Krishna. Wild-type MeCp2 expression coincides with age-dependent sensory phenotypes in a female mouse model for Rett syndrome. Journal of neuroscience research. 2023-04-07. PMID:37026482. |
wild-type mecp2 expression coincides with age-dependent sensory phenotypes in a female mouse model for rett syndrome. |
2023-04-07 |
2023-08-14 |
mouse |
| Michael Mykins, Dana Layo-Carris, Logan Reid Dunn, David Wilson Skinner, Alexandra Hart McBryar, Sarah Perez, Trinity Rose Shultz, Andrew Willems, Billy You Bun Lau, Tian Hong, Keerthi Krishna. Wild-type MeCp2 expression coincides with age-dependent sensory phenotypes in a female mouse model for Rett syndrome. Journal of neuroscience research. 2023-04-07. PMID:37026482. |
loss of mecp2 protein is thought to cause rett syndrome phenotypes. |
2023-04-07 |
2023-08-14 |
mouse |
| Michael Mykins, Dana Layo-Carris, Logan Reid Dunn, David Wilson Skinner, Alexandra Hart McBryar, Sarah Perez, Trinity Rose Shultz, Andrew Willems, Billy You Bun Lau, Tian Hong, Keerthi Krishna. Wild-type MeCp2 expression coincides with age-dependent sensory phenotypes in a female mouse model for Rett syndrome. Journal of neuroscience research. 2023-04-07. PMID:37026482. |
due to random x-chromosome inactivation, female patients with rett syndrome and female mouse models for rett syndrome (mecp2 |
2023-04-07 |
2023-08-14 |
mouse |
| Ramona Cordani, Eleonora Tobaldini, Gabriel Dias Rodrigues, Donatella Giambersio, Marco Veneruso, Lorenzo Chiarella, Nicola Disma, Elisa De Grandis, Edgar Toschi-Dias, Ludovico Furlan, Angelica Carandina, Giulia Prato, Lino Nobili, Nicola Montan. Cardiac autonomic control in Rett syndrome: Insights from heart rate variability analysis. Frontiers in neuroscience. vol 17. 2023-04-06. PMID:37021139. |
rett syndrome (rtt) is a rare and severe neurological disorder mainly affecting females, usually linked to methyl-cpg-binding protein 2 (mecp2) gene mutations. |
2023-04-06 |
2023-08-14 |
Not clear |
| Rachel M Rahn, Allen Yen, Siyu Chen, Seana H Gaines, Annie R Bice, Lindsey M Brier, Raylynn G Swift, LeiLani Lee, Susan E Maloney, Joseph P Culver, Joseph D Doughert. Mecp2 deletion results in profound alterations of developmental and adult functional connectivity. Cerebral cortex (New York, N.Y. : 1991). 2023-03-10. PMID:36897048. |
as a regressive neurodevelopmental disorder with a well-established genetic cause, rett syndrome and its mecp2 loss-of-function mouse model provide an excellent opportunity to define potentially translatable functional signatures of disease progression, as well as offer insight into the role of mecp2 in functional circuit development. |
2023-03-10 |
2023-08-14 |
mouse |
| Xizi Zhang, Claudia Cattoglio, Madeline Zoltek, Carlo Vetralla, Deepto Mozumdar, Alanna Schepart. Dose-Dependent Nuclear Delivery and Transcriptional Repression with a Cell-Penetrant MeCP2. ACS central science. vol 9. issue 2. 2023-02-27. PMID:36844491. |
using the cell-permeant mini-protein zf5.3, here we report the efficient nuclear delivery of functional methyl-cpg-binding-protein 2 (mecp2), a transcriptional regulator whose mutation causes rett syndrome (rtt). |
2023-02-27 |
2023-08-14 |
Not clear |