| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Sheryl Anne D Vermudez, Rocco G Gogliotti, Bright Arthur, Aditi Buch, Clarissa Morales, Yuta Moxley, Hemangi Rajpal, P Jeffrey Conn, Colleen M Niswende. Profiling beneficial and potential adverse effects of MeCP2 overexpression in a hypomorphic Rett syndrome mouse model. Genes, brain, and behavior. 2021-11-19. PMID:34002468. |
de novo loss-of-function mutations in methyl-cpg-binding protein 2 (mecp2) lead to the neurodevelopmental disorder rett syndrome (rtt). |
2021-11-19 |
2023-08-13 |
mouse |
| Gen Yasui, Syouichi Katayama, Yukihiko Kubota, Hisashi Takatsuka, Masahiro Ito, Tetsuya Inaz. Zinc finger protein 483 (ZNF483) regulates neuronal differentiation and methyl-CpG-binding protein 2 (MeCP2) intracellular localization. Biochemical and biophysical research communications. vol 568. 2021-11-19. PMID:34192606. |
rett syndrome (omim #312750) is a developmental neurological disorder that is caused by a mutation in methyl-cpg-binding protein 2 (mecp2). |
2021-11-19 |
2023-08-13 |
Not clear |
| Valerie Matagne, Emilie Borloz, Yann Ehinger, Lydia Saidi, Laurent Villard, Jean-Christophe Rou. Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome. Neurobiology of disease. vol 149. 2021-11-18. PMID:33383186. |
rett syndrome (rtt) is a severe x-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl cpg binding protein 2 gene (mecp2). |
2021-11-18 |
2023-08-13 |
mouse |
| Juanxian Cheng, Zhe Zhao, Liping Chen, Ying Li, Ruijing Du, Yan Wu, Qian Zhu, Ming Fan, Xiaotao Duan, Haitao W. Loss of O-GlcNAcylation on MeCP2 at Threonine 203 Leads to Neurodevelopmental Disorders. Neuroscience bulletin. 2021-11-13. PMID:34773221. |
mutations of the x-linked methyl-cpg-binding protein 2 (mecp2) gene in humans are responsible for most cases of rett syndrome (rtt), an x-linked progressive neurological disorder. |
2021-11-13 |
2023-08-13 |
mouse |
| Bridget E Collins, Jonathan K Merritt, Kirsty R Erickson, Jeffrey L Neu. Safety and efficacy of genetic MECP2 supplementation in the R294X mouse model of Rett syndrome. Genes, brain, and behavior. 2021-11-05. PMID:33942492. |
safety and efficacy of genetic mecp2 supplementation in the r294x mouse model of rett syndrome. |
2021-11-05 |
2023-08-13 |
mouse |
| Bridget E Collins, Jonathan K Merritt, Kirsty R Erickson, Jeffrey L Neu. Safety and efficacy of genetic MECP2 supplementation in the R294X mouse model of Rett syndrome. Genes, brain, and behavior. 2021-11-05. PMID:33942492. |
rett syndrome is a neurodevelopmental disorder caused predominantly by loss-of-function mutations in mecp2, encoding transcriptional modulator methyl-cpg-binding protein 2 (mecp2). |
2021-11-05 |
2023-08-13 |
mouse |
| Neeti Vashi, Cameron Ackerley, Martin Post, Monica J Justic. Aberrant lung lipids cause respiratory impairment in a Mecp2-deficient mouse model of Rett syndrome. Human molecular genetics. vol 30. issue 22. 2021-11-05. PMID:34230964. |
severe respiratory impairment is a prominent feature of rett syndrome, an x-linked disorder caused by mutations in methyl cpg-binding protein 2 (mecp2). |
2021-11-05 |
2023-08-13 |
mouse |
| Xiaoying Chen, Xu Han, Bruno Blanchi, Wuqiang Guan, Weihong Ge, Yong-Chun Yu, Yi E Su. Graded and pan-neural disease phenotypes of Rett Syndrome linked with dosage of functional MeCP2. Protein & cell. vol 12. issue 8. 2021-11-01. PMID:32851591. |
graded and pan-neural disease phenotypes of rett syndrome linked with dosage of functional mecp2. |
2021-11-01 |
2023-08-13 |
human |
| Xiaoying Chen, Xu Han, Bruno Blanchi, Wuqiang Guan, Weihong Ge, Yong-Chun Yu, Yi E Su. Graded and pan-neural disease phenotypes of Rett Syndrome linked with dosage of functional MeCP2. Protein & cell. vol 12. issue 8. 2021-11-01. PMID:32851591. |
rett syndrome (rtt) is a progressive neurodevelopmental disorder, mainly caused by mutations in mecp2 and currently with no cure. |
2021-11-01 |
2023-08-13 |
human |
| Nathan P Achilly, Wei Wang, Huda Y Zoghb. Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome. Nature. vol 592. issue 7855. 2021-11-01. PMID:33762729. |
mutations in the x-linked gene mecp2 cause rett syndrome, a progressive neurological disorder in which children develop normally for the first one or two years of life before experiencing profound motor and cognitive decline |
2021-11-01 |
2023-08-13 |
mouse |
| Siwen Liu, Pei Pei, Lin Li, Hairong Wu, Xuefei Zheng, Songtao Wang, Yang Xiao, Hong Pan, Xinhua Bao, Yu Qi, Yinan M. Mitochondrial DNA Copy Number in Rett Syndrome Caused by Methyl-CpG-Binding Protein-2 Variants. The Journal of pediatrics. 2021-10-30. PMID:34619114. |
to determine changes in mitochondrial dna (mtdna) copy number in peripheral blood in rett syndrome caused by methyl-cpg-binding protein-2 (mecp2) variants and explore the mechanism of mitochondrial dysfunction in rett syndrome. |
2021-10-30 |
2023-08-13 |
Not clear |
| M I Zalosnik, M C Fabio, M L Bertoldi, C N Castañares, A L Degan. MeCP2 deficiency exacerbates the neuroinflammatory setting and autoreactive response during an autoimmune challenge. Scientific reports. vol 11. issue 1. 2021-10-29. PMID:34040112. |
rett syndrome is a severe and progressive neurological disorder linked to mutations in the mecp2 gene. |
2021-10-29 |
2023-08-13 |
Not clear |
| S Pejhan, V M Siu, L C Ang, M R Del Bigio, M Rastega. Differential brain region-specific expression of MeCP2 and BDNF in Rett Syndrome patients: a distinct grey-white matter variation. Neuropathology and applied neurobiology. vol 46. issue 7. 2021-10-28. PMID:32246495. |
differential brain region-specific expression of mecp2 and bdnf in rett syndrome patients: a distinct grey-white matter variation. |
2021-10-28 |
2023-08-13 |
human |
| S Pejhan, V M Siu, L C Ang, M R Del Bigio, M Rastega. Differential brain region-specific expression of MeCP2 and BDNF in Rett Syndrome patients: a distinct grey-white matter variation. Neuropathology and applied neurobiology. vol 46. issue 7. 2021-10-28. PMID:32246495. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by methyl cpg binding protein 2 (mecp2) gene mutations. |
2021-10-28 |
2023-08-13 |
human |
| Linda Scaramuzza, Giuseppina De Rocco, Genni Desiato, Clementina Cobolli Gigli, Martina Chiacchiaretta, Filippo Mirabella, Davide Pozzi, Marco De Simone, Paola Conforti, Massimiliano Pagani, Fabio Benfenati, Fabrizia Cesca, Francesco Bedogni, Nicoletta Landsberge. The enhancement of activity rescues the establishment of Mecp2 null neuronal phenotypes. EMBO molecular medicine. vol 13. issue 4. 2021-10-25. PMID:33665914. |
mecp2 mutations cause rett syndrome (rtt), a severe and progressive neurodevelopmental disorder mainly affecting females. |
2021-10-25 |
2023-08-13 |
mouse |
| Cleber A Trujillo, Jason W Adams, Priscilla D Negraes, Cassiano Carromeu, Leon Tejwani, Allan Acab, Ben Tsuda, Charles A Thomas, Neha Sodhi, Katherine M Fichter, Sarah Romero, Fabian Zanella, Terrence J Sejnowski, Henning Ulrich, Alysson R Muotr. Pharmacological reversal of synaptic and network pathology in human MECP2-KO neurons and cortical organoids. EMBO molecular medicine. vol 13. issue 1. 2021-10-22. PMID:33501759. |
mecp2 mutations are almost universally responsible for rett syndrome (rtt), and particular mutations and cellular mosaicism of mecp2 may underlie the spectrum of rtt symptomatic severity. |
2021-10-22 |
2023-08-13 |
human |
| A Gallucci, K C Patterson, A R Weit, W J Van Der Pol, L G Dubois, A K Percy, C D Morrow, S L Campbell, M L Olse. Microbial community changes in a female rat model of Rett syndrome. Progress in neuro-psychopharmacology & biological psychiatry. vol 109. 2021-10-22. PMID:33548354. |
rett syndrome (rtt) is an x-linked neurodevelopmental disorder that is predominantly caused by alterations of the methyl-cpg-binding protein 2 (mecp2) gene. |
2021-10-22 |
2023-08-13 |
rat |
| N Van der Aa, M Van den Bergh, N Ponomarenko, L Verstraete, B Ceulemans, K Stor. Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome. Molecular syndromology. vol 1. issue 6. 2021-10-21. PMID:22190898. |
our findings stress the importance of foxg1 analysis in male patients with rett syndrome and in female patients when mutations in the mecp2 and cdkl5 genes have been excluded. |
2021-10-21 |
2023-08-12 |
Not clear |
| C Florian, N Bahi-Buisson, T Bienven. FOXG1-Related Disorders: From Clinical Description to Molecular Genetics. Molecular syndromology. vol 2. issue 3-5. 2021-10-21. PMID:22670136. |
rett syndrome (rtt) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in the x-linked gene encoding methyl-cpg-binding protein 2 (mecp2). |
2021-10-21 |
2023-08-12 |
mouse |
| M Zweier, A Rauc. The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome. Molecular syndromology. vol 2. issue 3-5. 2021-10-21. PMID:22670137. |
the phenotypic overlap with rett syndrome is explained by a shared pathway and, accordingly, diminished mecp2 and cdkl5 expression is measureable in patients with mef2c defects. |
2021-10-21 |
2023-08-12 |
Not clear |