| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Alessandro Esposito, Tommaso Seri, Martina Breccia, Marzia Indrigo, Giuseppina De Rocco, Francesca Nuzzolillo, Vanna Denti, Francesca Pappacena, Gaia Tartaglione, Simone Serrao, Giuseppe Paglia, Luca Murru, Stefano de Pretis, Jean-Michel Cioni, Nicoletta Landsberger, Fabrizia Claudia Guarnieri, Michela Palmier. Unraveling autophagic imbalances and therapeutic insights in Mecp2-deficient models. EMBO molecular medicine. 2024-10-14. PMID:39402139. |
loss-of-function mutations in mecp2 are associated to rett syndrome (rtt), a severe neurodevelopmental disease. |
2024-10-14 |
2024-10-17 |
mouse |
| Raeline Valbuena, AkshatKumar Nigam, Josh Tycko, Peter Suzuki, Kaitlyn Spees, Aradhana, Sophia Arana, Peter Du, Roshni A Patel, Lacramiora Bintu, Anshul Kundaje, Michael C Bassi. Prediction and design of transcriptional repressor domains with large-scale mutational scans and deep learning. bioRxiv : the preprint server for biology. 2024-10-10. PMID:39386603. |
we identified thousands of clinical variants with loss or gain of repressor function, including twist1 hlh variants associated with saethre-chotzen syndrome and mecp2 domain variants associated with rett syndrome. |
2024-10-10 |
2024-10-12 |
human |
| Osman Sharifi, Viktoria Haghani, Kari E Neier, Keith J Fraga, Ian Korf, Sophia M Hakam, Gerald Quon, Nelson Johansen, Dag H Yasui, Janine M LaSall. Sex-specific single cell-level transcriptomic signatures of Rett syndrome disease progression. Communications biology. vol 7. issue 1. 2024-10-09. PMID:39384967. |
while random xci usually protects females against x-linked mutations, rett syndrome (rtt) is a female neurodevelopmental disorder caused by heterozygous mecp2 mutation. |
2024-10-09 |
2024-10-12 |
mouse |
| Zi-Tong Zhang, Shu-Xuan Niu, Chen-Hao Yu, Shi-Yuan Wan, Jiao Wang, Cheng-Yu Liu, Ling Zheng, Kun Huang, Yu Zhan. USP15 inhibits hypoxia-induced IL-6 signaling by deubiquitinating and stabilizing MeCP2. The FEBS journal. 2024-10-08. PMID:39375927. |
the expression level of mecp2 is crucial, as indicated by the observation that loss-of-function mutations of mecp2 cause rett syndrome, whereas an extra copy spanning the mecp2 locus results in mecp2 duplication syndrome, both being progressive neurodevelopmental disorders. |
2024-10-08 |
2024-10-10 |
Not clear |
| Amanda M Vanderplow, Grace E Dodis, Yewon Rhee, Jakub J Cikowski, Sonia Gonzalez, Mackenzie L Smith, Rocco G Gogliott. Site-Blocking Antisense Oligonucleotides as a Mechanism to Fine-Tune MECP2 Expression. RNA (New York, N.Y.). 2024-10-08. PMID:39379106. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by loss-of-function mutations in the methyl cpg binding protein 2 (mecp2) gene. |
2024-10-08 |
2024-10-11 |
mouse |
| Kan Yang, Tianshu Li, Yixiao Geng, Ru Zhang, Zhankui Xu, Jun Wu, Yiting Yuan, Yuefang Zhang, Zilong Qiu, Fei L. Protocol for the neonatal intracerebroventricular delivery of adeno-associated viral vectors for brain restoration of MECP2 for Rett syndrome. STAR protocols. vol 5. issue 4. 2024-09-27. PMID:39331500. |
protocol for the neonatal intracerebroventricular delivery of adeno-associated viral vectors for brain restoration of mecp2 for rett syndrome. |
2024-09-27 |
2024-10-01 |
mouse |
| Ana M Cabal-Herrera, Christopher W Beatt. [Rett syndrome: from pathophysiology to developments in treatment]. Medicina. vol 84 Suppl 3. 2024-09-27. PMID:39331775. |
rett syndrome (rtt) is a neurodevelopment disorder which primarily affects females and is caused by pathogenic variants in the mecp2 gene. |
2024-09-27 |
2024-10-01 |
Not clear |
| Nasim Bahram Sangani, Jarno Koetsier, Ana Rita Gomes, Maria Margarida Diogo, Tiago G Fernandes, Freek G Bouwman, Edwin C M Mariman, Mehrnaz Ghazvini, Joost Gribnau, Leopold M G Curfs, Chris P Reutelingsperger, Lars M T Eijsse. Involvement of extracellular vesicle microRNA clusters in developing healthy and Rett syndrome brain organoids. Cellular and molecular life sciences : CMLS. vol 81. issue 1. 2024-09-21. PMID:39305343. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by de novo mutations in the mecp2 gene. |
2024-09-21 |
2024-09-24 |
Not clear |
| Livia Cosentino, Chiara Urbinati, Chiara Lanzillotta, Domenico De Rasmo, Daniela Valenti, Mattia Pellas, Maria Cristina Quattrini, Fabiana Piscitelli, Magdalena Kostrzewa, Fabio Di Domenico, Donatella Pietraforte, Tiziana Bisogno, Anna Signorile, Rosa Anna Vacca, Bianca De Filippi. Pharmacological inhibition of the CB1 cannabinoid receptor restores abnormal brain mitochondrial CB1 receptor expression and rescues bioenergetic and cognitive defects in a female mouse model of Rett syndrome. Molecular autism. vol 15. issue 1. 2024-09-20. PMID:39300547. |
defective mitochondria and aberrant brain mitochondrial bioenergetics are consistent features in syndromic intellectual disability disorders, such as rett syndrome (rtt), a rare neurologic disorder that severely affects mainly females carrying mutations in the x-linked mecp2 gene. |
2024-09-20 |
2024-09-22 |
mouse |
| Diego Pozzer, Marzia Indrigo, Martina Breccia, Elena Florio, Camilla Aurora Franchino, Giuseppina De Rocco, Francesca Maltecca, Antonio Fadda, Marzia Rossato, Andrea Aramini, Marcello Allegretti, Angelisa Frasca, Lidia De Filippis, Nicoletta Landsberge. Clinical-grade intranasal NGF fuels neurological and metabolic functions of Mecp2-deficient mice. Brain : a journal of neurology. 2024-09-20. PMID:39300821. |
mecp2 encodes for an epigenetic transcription factor that is particularly abundant in the brain; consequently, several transcriptional defects characterize the rett syndrome brain. |
2024-09-20 |
2024-09-22 |
mouse |
| Sameer S Bajikar, Yehezkel Sztainberg, Alexander J Trostle, Harini P Tirumala, Ying-Wooi Wan, Caroline L Harrop, Jesse D Bengtsson, Claudia M B Carvalho, Davut Pehlivan, Bernhard Suter, Jeffrey L Neul, Zhandong Liu, Paymaan Jafar-Nejad, Frank Rigo, Huda Y Zoghb. Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels. Human molecular genetics. 2024-09-15. PMID:39277796. |
importantly, we identified a signature of genes that is partially and qualitatively modulated upon aso treatment, pinpointed genes sensitive to mecp2 function, and altered in a model of rett syndrome, a neurological disorder caused by loss of mecp2 function. |
2024-09-15 |
2024-09-18 |
mouse |
| Natalie Boyle, Yipeng Li, Xiaoqian Sun, Pan Xu, Chien-Hsien Lai, Sarah Betts, Dian Guo, Rahul Simha, Chen Zeng, Jianyang Du, Hui L. MeCP2 deficiency alters the response selectivity of prefrontal cortical neurons to different social stimuli. eNeuro. 2024-09-12. PMID:39266326. |
rett syndrome (rtt), a severe neurodevelopmental disorder caused by mutations in the mecp2 gene, is characterized by cognitive and social deficits. |
2024-09-12 |
2024-09-15 |
mouse |
| Danielle L Tomasello, M Inmaculada Barrasa, David Mankus, Katia I Alarcon, Abigail K R Lytton-Jean, X Shawn Liu, Rudolf Jaenisc. Mitochondrial dysfunction and increased reactive oxygen species production in MECP2 mutant astrocytes and their impact on neurons. Scientific reports. vol 14. issue 1. 2024-09-04. PMID:39232000. |
studies on mecp2 function and its implications in rett syndrome (rtt) have traditionally centered on neurons. |
2024-09-04 |
2024-09-08 |
human |
| Gabriella N L Chua, John W Watters, Paul Dominic B Olinares, Masuda Begum, Lauren E Vostal, Joshua A Luo, Brian T Chait, Shixin Li. Differential dynamics specify MeCP2 function at nucleosomes and methylated DNA. Nature structural & molecular biology. 2024-08-20. PMID:39164525. |
methyl-cpg-binding protein 2 (mecp2) is an essential chromatin-binding protein whose mutations cause rett syndrome (rtt), a severe neurological disorder that primarily affects young females. |
2024-08-20 |
2024-08-23 |
Not clear |
| Tatsuya Osaki, Chloe Delepine, Yuma Osako, Devorah Kranz, April Levin, Charles Nelson, Michela Fagiolini, Mriganka Su. Early differential impact of MeCP2 mutations on functional networks in Rett syndrome patient-derived human cerebral organoids. bioRxiv : the preprint server for biology. 2024-08-16. PMID:39149328. |
early differential impact of mecp2 mutations on functional networks in rett syndrome patient-derived human cerebral organoids. |
2024-08-16 |
2024-08-18 |
human |
| Tatsuya Osaki, Chloe Delepine, Yuma Osako, Devorah Kranz, April Levin, Charles Nelson, Michela Fagiolini, Mriganka Su. Early differential impact of MeCP2 mutations on functional networks in Rett syndrome patient-derived human cerebral organoids. bioRxiv : the preprint server for biology. 2024-08-16. PMID:39149328. |
mutations in the x-linked methyl-cpg binding protein 2 (mecp2) gene are associated with rett syndrome, and disease severity varies depending on the location and type of mutation. |
2024-08-16 |
2024-08-18 |
human |
| Tatsuya Osaki, Chloe Delepine, Yuma Osako, Devorah Kranz, April Levin, Charles Nelson, Michela Fagiolini, Mriganka Su. Early differential impact of MeCP2 mutations on functional networks in Rett syndrome patient-derived human cerebral organoids. bioRxiv : the preprint server for biology. 2024-08-16. PMID:39149328. |
here, we focused on neuronal activity in rett syndrome patient-derived organoids, analyzing two types of mecp2 mutations - a missense mutation (r306c) and a truncating mutation (v247x) - using calcium imaging with three-photon microscopy. |
2024-08-16 |
2024-08-18 |
human |