| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| 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 |
| 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 |
| 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 |
| Tal David Berger, Chen Fogel Berger, Sewar Gara, Bruria Ben-Zeev, Batia Weis. Nutritional and gastrointestinal manifestations in Rett syndrome: long-term follow-up. European journal of pediatrics. 2024-07-03. PMID:38960904. |
rett syndrome is a rare neurodevelopmental disorder associated with methyl cpg binding protein 2 (mecp2) gene mutations. |
2024-07-03 |
2024-07-10 |
Not clear |
| Emilie Audouard, Nicolas Khefif, Béatrix Gillet-Legrand, Fanny Nobilleau, Ouafa Bouazizi, Serena Stanga, Gaëtan Despres, Sandro Alves, Antonin Lamazière, Nathalie Cartier, Françoise Pigue. Modulation of Brain Cholesterol Metabolism through CYP46A1 Overexpression for Rett Syndrome. Pharmaceutics. vol 16. issue 6. 2024-06-27. PMID:38931878. |
rett syndrome (rtt) is a rare neurodevelopmental disorder caused by mutation in the x-linked gene methyl-cpg-binding protein 2 (mecp2), a ubiquitously expressed transcriptional regulator. |
2024-06-27 |
2024-06-29 |
Not clear |
| Eleonora Maino, Ori Scott, Samar Z Rizvi, Wing Suen Chan, Shagana Visuvanathan, Youssif Ben Zablah, Hongbin Li, Ameet S Sengar, Michael W Salter, Zhengping Jia, Janet Rossant, Ronald D Cohn, Bin Gu, Evgueni A Ivakin. A Cas9-fusion proximity-based approach generates an Irak1-Mecp2 tandem duplication mouse model for the study of MeCP2 duplication syndrome. Disease models & mechanisms. 2024-06-17. PMID:38881329. |
mecp2 duplication syndrome (mds) is a neurodevelopmental disorder caused by tandem duplication of the mecp2 locus and its surrounding genes, including irak1. |
2024-06-17 |
2024-06-19 |
mouse |
| Hong-Wei Dong, Kelly Weiss, Kathryn Baugh, Mac J Meadows, Colleen M Niswender, Jeffrey L Neu. Potentiation of the muscarinic acetylcholine receptor 1 modulates neurophysiological features in a mouse model of Rett syndrome. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 2024-06-16. PMID:38880672. |
rett syndrome (rtt) is a neurodevelopmental disorder primarily caused by mutations in the x chromosome-linked gene methyl-cpg binding protein 2 (mecp2). |
2024-06-16 |
2024-06-19 |
mouse |
| Kathleen J Motil, Arthur Beisang, Constance Smith-Hicks, Anthony Lembo, Shannon M Standridge, Edwin Li. Recommendations for the management of gastrointestinal comorbidities with or without trofinetide use in rett syndrome. Expert review of gastroenterology & hepatology. 2024-06-13. PMID:38869952. |
although gastrointestinal (gi) comorbidities are experienced by over 90% of individuals with rett syndrome (rtt), a neurodevelopmental disorder associated with mutations in the mecp2 gene, many neurologists and pediatricians do not rank the management of these comorbidities among the most important treatment goals for rtt. |
2024-06-13 |
2024-06-16 |
Not clear |
| Destynie Medeiros, Karen Ayala-Baylon, Hailey Egido-Betancourt, Eric Miller, Christopher Chapleau, Holly Robinson, Mary L Phillips, Tao Yang, Frank M Longo, Wei Li, Lucas Pozzo-Mille. A small-molecule TrkB ligand improves dendritic spine phenotypes and atypical behaviors in female Rett syndrome mice. Disease models & mechanisms. vol 17. issue 6. 2024-05-24. PMID:38785269. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations in mecp2, which encodes methyl-cpg-binding protein 2, a transcriptional regulator of many genes, including brain-derived neurotrophic factor (bdnf). |
2024-05-24 |
2024-05-27 |
mouse |
| Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, Rober Kopajtich, Holger Prokisch, Judith Armstron. Multi-omics in MECP2 duplication syndrome patients and carriers. The European journal of neuroscience. 2024-05-15. PMID:38746988. |
mecp2 duplication syndrome (mds) is an x-linked neurodevelopmental disorder caused by the gain of dose of at least the genes mecp2 and irak1 and is characterised by intellectual disability (id), developmental delay, hypotonia, epilepsy and recurrent infections. |
2024-05-15 |
2024-05-27 |
human |
| Indumathy Jagadeeswaran, Jiyoung Oh, Sarah E Sinnet. Preclinical milestones in MECP2 gene transfer for treating Rett syndrome. Developmental neuroscience. 2024-05-09. PMID:38723617. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations in the transcriptional regulator methyl-cpg-binding protein 2 (mecp2). |
2024-05-09 |
2024-05-27 |
mouse |
| Yi Liu, Anthony Flamier, George W Bell, Annette Jun Diao, Troy W Whitfield, Hao-Che Wang, Yizhe Wu, Fabian Schulte, Max Friesen, Ruisi Guo, Maisam Mitalipova, X Shawn Liu, Seychelle M Vos, Richard A Young, Rudolf Jaenisc. MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons. Neuron. 2024-05-02. PMID:38697112. |
mutations in the methyl-dna-binding protein mecp2 cause the neurodevelopmental disorder rett syndrome (rtt). |
2024-05-02 |
2024-05-05 |
human |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |