| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Bidzina Kanashvili, M Wade Shrader, Kenneth J Rogers, Freeman Miller, Jason James Howar. Surgery for foot deformities in MECP2 disorders: prevalence and risk factors. Journal of pediatric orthopedics. Part B. 2023-02-27. PMID:36847194. |
fifty-six patients (rett syndrome: n = 52, mecp2 duplication syndrome: n = 4; 93% female) met the inclusion criteria. |
2023-02-27 |
2023-08-14 |
Not clear |
| Angelica Giuliani, Jacopo Sabbatinelli, Stefano Amatori, Laura Graciotti, Andrea Silvestrini, Giulia Matacchione, Deborah Ramini, Emanuela Mensà, Francesco Prattichizzo, Lucia Babini, Domenico Mattiucci, Elena Marinelli Busilacchi, Maria Giulia Bacalini, Emma Espinosa, Fabrizia Lattanzio, Antonio Domenico Procopio, Fabiola Olivieri, Antonella Poloni, Mirco Fanelli, Maria Rita Ripp. MiR-422a promotes adipogenesis via MeCP2 downregulation in human bone marrow mesenchymal stem cells. Cellular and molecular life sciences : CMLS. vol 80. issue 3. 2023-02-27. PMID:36847916. |
however, young patients with rett syndrome also suffer from osteoporosis, suggesting a role of mecp2 in the differentiation of human bone marrow mesenchymal stromal cells (hbmscs), the precursors of osteoblasts and adipocytes. |
2023-02-27 |
2023-08-14 |
human |
| Sameer S Bajikar, Ashley G Anderson, Jian Zhou, Mark A Durham, Alexander J Trostle, Ying-Wooi Wan, Zhandong Liu, Huda Y Zoghb. MeCP2 regulates eLife. vol 12. 2023-02-27. PMID:36848184. |
mecp2 regulates loss- and gain-of-function of mecp2 causes rett syndrome (rtt) and |
2023-02-27 |
2023-08-14 |
Not clear |
| Sarah Lemprièr. Epigenome editing of MECP2 rescues Rett syndrome neurons. Nature reviews. Neurology. 2023-02-01. PMID:36725913. |
epigenome editing of mecp2 rescues rett syndrome neurons. |
2023-02-01 |
2023-08-14 |
Not clear |
| Shi-Hao Wu, Xiao Li, Dong-Dong Qin, Lin-Heng Zhang, Tian-Lin Cheng, Zhi-Fang Chen, Bin-Bin Nie, Xiao-Feng Ren, Jing Wu, Wen-Chao Wang, Ying-Zhou Hu, Yi-Lin Gu, Long-Bao Lv, Yong Yin, Xin-Tian Hu, Zi-Long Qi. Induction of core symptoms of autism spectrum disorder by in vivo CRISPR/Cas9-based gene editing in the brain of adolescent rhesus monkeys. Science bulletin. vol 66. issue 9. 2023-01-19. PMID:36654241. |
here we induced genetic mutations in mecp2, a critical gene linked to rett syndrome (rtt) and autism spectrum disorders (asd), in the hippocampus (dg and ca1-4) of adolescent rhesus monkeys (macaca mulatta) in vivo via adeno-associated virus (aav)-delivered staphylococcus aureus cas9 with small guide rnas (sgrnas) targeting mecp2. |
2023-01-19 |
2023-08-14 |
human |
| Jialin Sun, Sivan Osenberg, Austin Irwin, Li-Hua Ma, Nigel Lee, Yangfei Xiang, Feng Li, Ying-Wooi Wan, In-Hyun Park, Mirjana Maletic-Savatic, Nurit Balla. Mutations in the transcriptional regulator MeCP2 severely impact key cellular and molecular signatures of human astrocytes during maturation. Cell reports. vol 42. issue 1. 2023-01-14. PMID:36640327. |
mutations in the mecp2 gene underlie a spectrum of neurodevelopmental disorders, most commonly rett syndrome (rtt). |
2023-01-14 |
2023-08-14 |
human |
| Ya-Jie Xu, Pei-Pei Liu, Zhong-Ze Yan, Ting-Wei Mi, Ying-Ying Wang, Qian Li, Zhao-Qian Teng, Chang-Mei Li. KW-2449 and VPA exert therapeutic effects on human neurons and cerebral organoids derived from MECP2-null hESCs. Stem cell research & therapy. vol 13. issue 1. 2022-12-27. PMID:36575558. |
rett syndrome (rtt), mainly caused by mutations in methyl-cpg binding protein 2 (mecp2), is one of the most prevalent neurodevelopmental disorders in girls. |
2022-12-27 |
2023-08-14 |
human |
| Galina Portnova, Anastasia Neklyudova, Victoria Voinova, Olga Sysoev. Clinical EEG of Rett Syndrome: Group Analysis Supplemented with Longitudinal Case Report. Journal of personalized medicine. vol 12. issue 12. 2022-12-23. PMID:36556193. |
rett syndrome (rtt), a severe neurodevelopmental disorder caused by mecp2 gene abnormalities, is characterized by atypical eeg activity, and its detailed examination is lacking. |
2022-12-23 |
2023-08-14 |
Not clear |
| Hongmei Dai, Yoshikazu Kitami, Yu-Ichi Goto, Masayuki Ito. 5-HT International journal of molecular sciences. vol 23. issue 22. 2022-11-26. PMID:36430502. |
5-ht rett syndrome (rtt) is an x-linked neurodevelopmental disorder caused by mutations in the gene that encodes methyl cpg-binding protein 2 (mecp2) and is characterized by the loss of acquired motor and language skills, stereotypic movements, respiratory abnormalities and autistic features. |
2022-11-26 |
2023-08-14 |
Not clear |
| Kan Yang, Cheng Cheng, Yiting Yuan, Yuefang Zhang, Shifang Shan, Zilong Qi. Extension of the Lifespan of a Mouse Model of Rett Syndrome by Intracerebroventricular Delivery of MECP2. Neuroscience bulletin. 2022-11-14. PMID:36374470. |
extension of the lifespan of a mouse model of rett syndrome by intracerebroventricular delivery of mecp2. |
2022-11-14 |
2023-08-14 |
mouse |
| Xinyan Zhang, Marcel Smits, Leopold Curfs, Karen Spruy. An investigation of the sleep macrostructure of girls with Rett syndrome. Sleep medicine. vol 101. 2022-11-07. PMID:36343395. |
we aim to characterize phenotypic traits in the sleep of individuals with rett syndrome (rtt, omim # 312750), a rare disorder predominantly caused by mutations of the mecp2 gene. |
2022-11-07 |
2023-08-14 |
Not clear |
| Rebecca S F Mok, Wenbo Zhang, Taimoor I Sheikh, Kartik Pradeepan, Isabella R Fernandes, Leah C DeJong, Gabriel Benigno, Matthew R Hildebrandt, Marat Mufteev, Deivid C Rodrigues, Wei Wei, Alina Piekna, Jiajie Liu, Alysson R Muotri, John B Vincent, Lyle Muller, Julio Martinez-Trujillo, Michael W Salter, James Elli. Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations. Translational psychiatry. vol 12. issue 1. 2022-10-17. PMID:36253345. |
rett syndrome (rtt) is a severe neurodevelopmental disorder primarily caused by heterozygous loss-of-function mutations in the x-linked gene mecp2 that is a global transcriptional regulator. |
2022-10-17 |
2023-08-14 |
human |
| Rosa Angela Fabio, Liliana Chiarini, Virginia Canegall. Pain in Rett syndrome: a pilot study and a single case study on the assessment of pain and the construction of a suitable measuring scale. Orphanet journal of rare diseases. vol 17. issue 1. 2022-09-14. PMID:36104823. |
rett syndrome (rtt) is a severe, neurodevelopmental disorder mainly caused by mutations in the mecp2 gene, affecting around 1 in 10,000 female births. |
2022-09-14 |
2023-08-14 |
Not clear |
| Stephanie A Zlatic, Duc Duong, Kamal K E Gadalla, Brenda Murage, Lingyan Ping, Ruth Shah, James J Fink, Omar Khwaja, Lindsay C Swanson, Mustafa Sahin, Sruti Rayaprolu, Prateek Kumar, Srikant Rangaraju, Adrian Bird, Daniel Tarquinio, Randall Carpenter, Stuart Cobb, Victor Faunde. Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome. iScience. vol 25. issue 9. 2022-09-05. PMID:36060065. |
mecp2 loss-of-function mutations cause rett syndrome, a neurodevelopmental disorder resulting from a disrupted brain transcriptome. |
2022-09-05 |
2023-08-14 |
Not clear |
| Yuanlei Yue, Ryan T Ash, Natalie Boyle, Anna Kinter, Yipeng Li, Chen Zeng, Hui L. MeCP2 deficiency impairs motor cortical circuit flexibility associated with motor learning. Molecular brain. vol 15. issue 1. 2022-09-05. PMID:36064580. |
loss of function mutations in the x-linked gene encoding methyl-cpg binding protein 2 (mecp2) cause rett syndrome (rtt), a postnatal neurological disorder. |
2022-09-05 |
2023-08-14 |
mouse |
| Nicolas Panayotis, Yann Ehinger, Marie Solenne Felix, Jean-Christophe Rou. State-of-the-art therapies for Rett syndrome. Developmental medicine and child neurology. 2022-09-03. PMID:36056801. |
rett syndrome (rtt) is an x-linked neurogenetic disorder caused by mutations of the mecp2 (methyl-cpg-binding protein 2) gene. |
2022-09-03 |
2023-08-14 |
mouse |
| Yulin Jin, Kenong Su, Ha Eun Kong, Wenjing Ma, Zhiqin Wang, Yujing Li, Ronghua Li, Emily G Allen, Hao Wu, Peng Ji. Cell-type specific DNA methylome signatures reveal epigenetic mechanisms for neuronal diversity and neurodevelopmental disorder. Human molecular genetics. 2022-08-10. PMID:35947991. |
finally, we show that the dna methylation changes in a mouse model of rett syndrome, a neurodevelopmental disorder caused by the de novo mutations in mecp2, are cell type- and brain region-specific. |
2022-08-10 |
2023-08-14 |
mouse |
| John R Sinnamon, Michael E Jacobson, John F Yung, Jenna R Fisk, Sophia Jeng, Shannon K McWeeney, Lindsay K Parmelee, Chi Ngai Chan, Siu-Pok Yee, Gail Mande. Targeted RNA editing in brainstem alleviates respiratory dysfunction in a mouse model of Rett syndrome. Proceedings of the National Academy of Sciences of the United States of America. vol 119. issue 33. 2022-08-08. PMID:35939700. |
rett syndrome is a neurological disease due to loss-of-function mutations in the transcription factor, methyl cpg binding protein 2 (mecp2). |
2022-08-08 |
2023-08-14 |
mouse |
| Jessica A Cooley Coleman, Timothy Fee, Renee Bend, Raymond Louie, Fran Annese, Jennifer Stallworth, Jessica Worthington, Caroline Black Buchanan, David B Everman, Steven Skinner, Michael J Friez, Julie R Jones, Catherine J Spellic. Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome. American journal of medical genetics. Part A. 2022-08-04. PMID:35924478. |
mosaicism of common pathogenic mecp2 variants identified in two males with a clinical diagnosis of rett syndrome. |
2022-08-04 |
2023-08-14 |
human |
| Patricia M Horvath, Michelle K Piazza, Ege T Kavalali, Lisa M Monteggi. MeCP2 loss-of-function dysregulates microRNAs regionally and disrupts excitatory/inhibitory synaptic transmission balance. Hippocampus. 2022-07-19. PMID:35851733. |
rett syndrome is a leading cause of intellectual disability in females primarily caused by loss of function mutations in the transcriptional regulator mecp2. |
2022-07-19 |
2023-08-14 |
mouse |