| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Ling Liu, Hai Nguyen, Urmi Das, Samuel Ogunsola, Jiankun Yu, Lei Lei, Matthew Kung, Shervin Pejhan, Mojgan Rastegar, Jiuyong Xi. Epigenetic control of adaptive or homeostatic splicing during interval-training activities. Nucleic acids research. 2024-04-25. PMID:38661216. |
the nature of these splicing responses depends on the exon's dna methylation status, the methyl-c-binding protein mecp2 and its associated ca-rich motif-binding hnrnp l. interestingly, the steady expression of the prolactin gene is also reliant on mecp2, whose disruption leads to exacerbated multi-exon aberrant splicing and overexpression of the hormone gene transcripts upon itd, similar to the observed hyperprolactinemia or activity-dependent aberrant splicing in rett syndrome. |
2024-04-25 |
2024-04-28 |
Not clear |
| Hyeon-Yeol Cho, Myungsik Yoo, Thanapat Pongkulapa, Hudifah Rabie, Alysson R Muotri, Perry T Yin, Jeong-Woo Choi, Ki-Bum Le. Magnetic Nanoparticle-Assisted Non-Viral CRISPR-Cas9 for Enhanced Genome Editing to Treat Rett Syndrome. Advanced science (Weinheim, Baden-Wurttemberg, Germany). 2024-04-22. PMID:38647391. |
to demonstrate the feasibility of the developed technology, mage is applied to correct the mutated mecp2 gene in induced pluripotent stem cell-derived neural progenitor cells (ipsc-npcs) from a rett syndrome patient. |
2024-04-22 |
2024-04-26 |
human |
| Michael James Flynn, Acacia M Mayfield, Rongrong Du, Viviana Gradinaru, Michael B Elowit. Synthetic dosage-compensating miRNA circuits for quantitative gene therapy. bioRxiv : the preprint server for biology. 2024-04-01. PMID:38559034. |
for example, loss of mecp2 function causes rett syndrome, while its duplication causes mecp2 duplication syndrome. |
2024-04-01 |
2024-04-04 |
mouse |
| Michael James Flynn, Acacia M Mayfield, Rongrong Du, Viviana Gradinaru, Michael B Elowit. Synthetic dosage-compensating miRNA circuits for quantitative gene therapy. bioRxiv : the preprint server for biology. 2024-04-01. PMID:38559034. |
here, we introduce a compact mirna-based, incoherent feed-forward loop circuit that achieves precise control of mecp2 expression in cells and brains, and improves outcomes in an aav-based mouse model of rett syndrome gene therapy. |
2024-04-01 |
2024-04-04 |
mouse |
| Nicholas J Santistevan, Colby T Ford, Cole S Gilsdorf, Yevgenya Grinbla. Behavioral and transcriptomic analyses of mecp2 function in zebrafish. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2024-03-29. PMID:38551133. |
rett syndrome (rtt), a human neurodevelopmental disorder characterized by severe cognitive and motor impairments, is caused by dysfunction of the conserved transcriptional regulator methyl-cpg-binding protein 2 (mecp2). |
2024-03-29 |
2024-03-31 |
mouse |
| Swati Bijlani, Ka Ming Pang, Lakshmi V Bugga, Sampath Rangasamy, Vinodh Narayanan, Saswati Chatterje. Nuclease-free precise genome editing corrects MECP2 mutations associated with Rett syndrome. Frontiers in genome editing. vol 6. 2024-03-18. PMID:38495533. |
nuclease-free precise genome editing corrects mecp2 mutations associated with rett syndrome. |
2024-03-18 |
2024-03-20 |
Not clear |
| Bernhard Suter, Davut Pehlivan, Muharrem Ak, Holly K Harris, Ariel M Lyons-Warre. Sensory experiences questionnaire unravels differences in sensory profiles between MECP2-related disorders. Autism research : official journal of the International Society for Autism Research. 2024-03-04. PMID:38433353. |
loss of function mutations or increased copies of mecp2 result in rett syndrome (rtt) and mecp2 duplication syndrome (mds), respectively. |
2024-03-04 |
2024-03-06 |
Not clear |
| Dennis Lebeda, Adrian Fierenz, Lina Werfel, Rina Rosin-Arbesfeld, Julia Hofhuis, Sven Thom. Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations. Journal of molecular medicine (Berlin, Germany). 2024-03-02. PMID:38430393. |
rett syndrome (rtt) is a neurodevelopmental disorder resulting from genetic mutations in the methyl cpg binding protein 2 (mecp2) gene. |
2024-03-02 |
2024-03-04 |
Not clear |
| Ina Schmitt, Bernd O Evert, Amit Sharma, Hassan Khazneh, Chris Murgatroyd, Ullrich Wüllne. The Alpha-Synuclein Gene (SNCA) is a Genomic Target of Methyl-CpG Binding Protein 2 (MeCP2)-Implications for Parkinson's Disease and Rett Syndrome. Molecular neurobiology. 2024-03-01. PMID:38429622. |
the alpha-synuclein gene (snca) is a genomic target of methyl-cpg binding protein 2 (mecp2)-implications for parkinson's disease and rett syndrome. |
2024-03-01 |
2024-03-04 |
human |
| Ina Schmitt, Bernd O Evert, Amit Sharma, Hassan Khazneh, Chris Murgatroyd, Ullrich Wüllne. The Alpha-Synuclein Gene (SNCA) is a Genomic Target of Methyl-CpG Binding Protein 2 (MeCP2)-Implications for Parkinson's Disease and Rett Syndrome. Molecular neurobiology. 2024-03-01. PMID:38429622. |
in addition, the expression of two mutated mecp2 variants found in rett syndrome (rtt) showed a loss of their ability to reduce a-syn expression. |
2024-03-01 |
2024-03-04 |
human |
| Adele Gaspar Lopes, Sampath Kumar Loganathan, Jayalakshmi Caliaperuma. Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials. Brain sciences. vol 14. issue 2. 2024-02-23. PMID:38391695. |
rett syndrome and the role of mecp2: signaling to clinical trials. |
2024-02-23 |
2024-02-25 |
Not clear |
| Breanne J Byiers, Alyssa M Merbler, Chantel C Barney, Kristin A Frenn, Angela Panoskaltsis-Mortari, Michael J Ehrhardt, Timothy J Feyma, Arthur A Beisang, Frank Symon. Evidence of altered salivary cytokine concentrations in Rett syndrome and associations with clinical severity. Brain, behavior, & immunity - health. vol 1. 2024-02-20. PMID:38377412. |
immune dysregulation may play a role in the development of rett syndrome (rtt), a neurodevelopmental disorder caused by mutations of the mecp2 gene. |
2024-02-20 |
2024-02-23 |
Not clear |
| J Russell Moore, Mati T Nemera, Rinaldo D D'Souza, Nicole Hamagami, Adam W Clemens, Diana C Beard, Alaina Urman, Victoria Rodriguez Mendoza, Harrison W Gabe. Non-CG DNA methylation and MeCP2 stabilize repeated tuning of long genes that distinguish closely related neuron types. bioRxiv : the preprint server for biology. 2024-02-14. PMID:38352532. |
neurons uniquely express the longest genes in the genome and utilize neuron-enriched non-cg dna methylation (mca) together with the rett syndrome protein, mecp2, to control gene expression, but the function of these unique gene structures and machinery in regulating finely resolved neuron type-specific gene programs has not been explored. |
2024-02-14 |
2024-02-16 |
Not clear |
| Cian Schmitt-Ulms, Alisan Kayabolen, Marcos Manero-Carranza, Nathan Zhou, Keira Donnelly, Sabrina Pia Nuccio, Kazuki Kato, Hiroshi Nishimasu, Jonathan S Gootenberg, Omar O Abudayye. Programmable RNA writing with trans-splicing. bioRxiv : the preprint server for biology. 2024-02-14. PMID:38352602. |
we show high efficiency replacement of exon 4 of mecp2, addressing most mutations that drive the rett syndrome; editing of shank3 transcripts, a gene involved in autism; and replacement of exon 1 of htt, removing the hallmark repeat expansions of huntington's disease. |
2024-02-14 |
2024-02-16 |
Not clear |
| Anastasia Neklyudova, Rabiat Kuramagomedova, Victoria Voinova, Olga Sysoev. Atypical brain responses to 40-Hz click trains in girls with Rett syndrome: Auditory steady-state response and sustained wave. Psychiatry and clinical neurosciences. 2024-02-07. PMID:38321640. |
the current study aimed to infer neurophysiological mechanisms of auditory processing in children with rett syndrome (rtt)-rare neurodevelopmental disorders caused by mecp2 mutations. |
2024-02-07 |
2024-02-09 |
Not clear |
| David Ortega-Alarcon, Rafael Claveria-Gimeno, Sonia Vega, Ladan Kalani, Olga C Jorge-Torres, Manel Esteller, Juan Ausio, Olga Abian, Adrian Velazquez-Campo. Extending MeCP2 interactome: canonical nucleosomal histones interact with MeCP2. Nucleic acids research. 2024-02-07. PMID:38321951. |
in addition, rett syndrome associated mutations in mecp2 and histone epigenetic marks modulate these interactions. |
2024-02-07 |
2024-02-09 |
Not clear |
| Ze Cao, Xia Min, Xingxing Xie, Maoqing Huang, Yingying Liu, Weimin Sun, Guifang Xu, Miao He, Kaiwen He, Ying Li, Junying Yua. RIPK1 activation in Mecp2-deficient microglia promotes inflammation and glutamate release in RTT. Proceedings of the National Academy of Sciences of the United States of America. vol 121. issue 6. 2024-01-30. PMID:38289948. |
rett syndrome (rtt) is a devastating neurodevelopmental disorder primarily caused by mutations in the methyl-cpg binding protein 2 (mecp2) gene. |
2024-01-30 |
2024-02-02 |
mouse |
| Komal Zade, Ciara Campbell, Snow Bach, Hazel Fernandes, Daniela Trope. Rett syndrome in Ireland: a demographic study. Orphanet journal of rare diseases. vol 19. issue 1. 2024-01-30. PMID:38291497. |
rett syndrome (rtt) is a rare neurodevelopmental condition associated with mutations in the gene coding for the methyl-cpg-binding protein 2 (mecp2). |
2024-01-30 |
2024-02-02 |
Not clear |
| Chanchal Sadhu, Christopher Lyons, Jiyoung Oh, Indumathy Jagadeeswaran, Steven J Gray, Sarah E Sinnet. The Efficacy of a Human-Ready mini Genes. vol 15. issue 1. 2024-01-23. PMID:38254921. |
the efficacy of a human-ready mini inactivating mutations and the duplication of methyl-cpg binding protein 2 (mecp2), respectively, mediate rett syndrome (rtt) and |
2024-01-23 |
2024-01-25 |
Not clear |
| Peter Balicza, Andras Gezsi, Mariann Fedor, Judit C Sagi, Aniko Gal, Noemi Agnes Varga, Maria Judit Molna. Multilevel evidence of MECP2-associated mitochondrial dysfunction and its therapeutic implications. Frontiers in psychiatry. vol 14. 2024-01-22. PMID:38250256. |
mitochondrial dysfunction was previously suggested in classical rett syndrome, and we detected related phenotype evidence on multiple consistent levels for the first time in a mecp2 variant carrier male. |
2024-01-22 |
2024-01-24 |
Not clear |