| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Kimberly A Aldinger, Andrew E Timms, James W MacDonald, Hanna K McNamara, Jennifer S Herstein, Theo K Bammler, Oleg V Evgrafov, James A Knowles, Pat Levit. Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain. Scientific data. vol 7. issue 1. 2021-01-07. PMID:32561870. |
rett syndrome is an x-linked neurodevelopmental disorder caused by mutation in the methyl-cpg-binding protein 2 gene (mecp2) in the majority of cases. |
2021-01-07 |
2023-08-13 |
human |
| Diego Sbardella, Grazia Raffaella Tundo, Vincenzo Cunsolo, Giuseppe Grasso, Raffaella Cascella, Valerio Caputo, Anna Maria Santoro, Danilo Milardi, Alessandra Pecorelli, Chiara Ciaccio, Donato Di Pierro, Silvia Leoncini, Luisa Campagnolo, Virginia Pironi, Francesco Oddone, Priscilla Manni, Salvatore Foti, Emiliano Giardina, Claudio De Felice, Joussef Hayek, Paolo Curatolo, Cinzia Galasso, Giuseppe Valacchi, Massimiliano Coletta, Grazia Graziani, Stefano Marin. Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations. Biochimica et biophysica acta. Molecular basis of disease. vol 1866. issue 7. 2021-01-05. PMID:32275946. |
defective proteasome biogenesis into skin fibroblasts isolated from rett syndrome subjects with mecp2 non-sense mutations. |
2021-01-05 |
2023-08-13 |
human |
| Kashyap Chhatbar, Justyna Cholewa-Waclaw, Ruth Shah, Adrian Bird, Guido Sanguinett. Quantitative analysis questions the role of MeCP2 as a global regulator of alternative splicing. PLoS genetics. vol 16. issue 10. 2020-12-31. PMID:33048927. |
mutations in the mecp2 gene cause the severe neurological disorder rett syndrome (rtt), provoking intensive study of the underlying molecular mechanisms. |
2020-12-31 |
2023-08-13 |
Not clear |
| Vittoria Cicaloni, Alessandra Pecorelli, Valeria Cordone, Laura Tinti, Marco Rossi, Joussef Hayek, Laura Salvini, Cristina Tinti, Giuseppe Valacch. A proteomics approach to further highlight the altered inflammatory condition in Rett syndrome. Archives of biochemistry and biophysics. vol 696. 2020-12-31. PMID:33159892. |
rett syndrome (rtt) is a progressive neurodevelopmental disorder caused by mutations in the x-linked mecp2 gene. |
2020-12-31 |
2023-08-13 |
human |
| Clare Cutri-French, Dallas Armstrong, Joni Saby, Casey Gorman, Jane Lane, Cary Fu, Sarika U Peters, Alan Percy, Jeffrey L Neul, Eric D Mars. Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study. Annals of neurology. vol 88. issue 2. 2020-12-09. PMID:32472944. |
rett syndrome, cdkl5-deficiency disorder, foxg1 disorder, and mecp2 duplication disorder are developmental encephalopathies with shared and distinct features. |
2020-12-09 |
2023-08-13 |
Not clear |
| Yuping Niu, Xiaowei Chen, Jie Li, Sexin Huang, Peiwen Xu, Yuan Ga. [Analysis of MECP2 gene variants in three pedigrees affected with Rett syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 37. issue 9. 2020-11-20. PMID:32820509. |
[analysis of mecp2 gene variants in three pedigrees affected with rett syndrome]. |
2020-11-20 |
2023-08-13 |
Not clear |
| Yuping Niu, Xiaowei Chen, Jie Li, Sexin Huang, Peiwen Xu, Yuan Ga. [Analysis of MECP2 gene variants in three pedigrees affected with Rett syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 37. issue 9. 2020-11-20. PMID:32820509. |
to detect potential variants of mecp2 gene in three pedigrees affected with rett syndrome (rtt). |
2020-11-20 |
2023-08-13 |
Not clear |
| Wei-Lun Hsu, Yun-Li Ma, Yen-Chen Liu, Derek J C Tai, Eminy H Y Le. Restoring Wnt6 signaling ameliorates behavioral deficits in MeCP2 T158A mouse model of Rett syndrome. Scientific reports. vol 10. issue 1. 2020-11-19. PMID:31974426. |
restoring wnt6 signaling ameliorates behavioral deficits in mecp2 t158a mouse model of rett syndrome. |
2020-11-19 |
2023-08-13 |
mouse |
| Wei-Lun Hsu, Yun-Li Ma, Yen-Chen Liu, Derek J C Tai, Eminy H Y Le. Restoring Wnt6 signaling ameliorates behavioral deficits in MeCP2 T158A mouse model of Rett syndrome. Scientific reports. vol 10. issue 1. 2020-11-19. PMID:31974426. |
the methyl-cpg-binding protein 2 gene, mecp2, is an x chromosome-linked gene encoding the mecp2 protein, and mutations of mecp2 cause rett syndrome (rtt). |
2020-11-19 |
2023-08-13 |
mouse |
| Benjamin C Buchmuller, Brinja Kosel, Daniel Summere. Complete Profiling of Methyl-CpG-Binding Domains for Combinations of Cytosine Modifications at CpG Dinucleotides Reveals Differential Read-out in Normal and Rett-Associated States. Scientific reports. vol 10. issue 1. 2020-11-12. PMID:32132616. |
in turn, mbd mutations can alter cpg binding, and in case of the mbd protein mecp2 can cause the neurological disorder rett syndrome (rtt). |
2020-11-12 |
2023-08-13 |
human |
| Clara Xiol, Silvia Vidal, Ainhoa Pascual-Alonso, Laura Blasco, Núria Brandi, Paola Pacheco, Edgar Gerotina, Mar O'Callaghan, Mercè Pineda, Judith Armstron. X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients. Scientific reports. vol 9. issue 1. 2020-11-02. PMID:31427717. |
rett syndrome (rtt) is a severe neurological disorder usually caused by mutations in the mecp2 gene. |
2020-11-02 |
2023-08-13 |
Not clear |
| N Lozovaya, R Nardou, R Tyzio, M Chiesa, A Pons-Bennaceur, S Eftekhari, T-T Bui, M Billon-Grand, J Rasero, P Bonifazi, D Guimond, J-L Gaiarsa, D C Ferrari, Y Ben-Ar. Early alterations in a mouse model of Rett syndrome: the GABA developmental shift is abolished at birth. Scientific reports. vol 9. issue 1. 2020-10-27. PMID:31239460. |
genetic mutations of the methyl-cpg-binding protein-2 (mecp2) gene underlie rett syndrome (rtt). |
2020-10-27 |
2023-08-13 |
mouse |
| Hannes Steinkellner, Anna Schönegger, Julia Etzler, Prakasha Kempaiah, Anna Huber, Kathrin Hahn, Katrin Rose, Mark Duerr, John Christodoulou, Alexander V Beribisky, Winfried Neuhaus, Franco Laccon. An electrochemiluminescence based assay for quantitative detection of endogenous and exogenously applied MeCP2 protein variants. Scientific reports. vol 9. issue 1. 2020-10-19. PMID:31138832. |
loss-of-function mutations affecting mecp2 are the primary cause of rett syndrome (rtt), a severe neurological disorder that is thought to result from absence of functional protein in the brain. |
2020-10-19 |
2023-08-13 |
Not clear |
| Marine Brousseau, Juliette Nectoux, Benjamin Saintpierre, Nicolas Lebrun, Nicolas Cagnard, Brigitte Izac, Emmanuelle Olivier, Franck Letourneur, Thierry Bienven. MeCP2 is involved in random mono-allelic expression for a subset of human autosomal genes. Biochimica et biophysica acta. Molecular basis of disease. vol 1866. issue 6. 2020-10-19. PMID:32070770. |
several target genes of mecp2, the gene involved in rett syndrome (rtt), have been previously described as subject to rmae, suggesting that mecp2 may be involved in the establishment and/or maintenance of rme of autosomal genes. |
2020-10-19 |
2023-08-13 |
human |
| Steffen Vogelgesang, Sabine Niebert, Ute Renner, Wiebke Möbius, Swen Hülsmann, Till Manzke, Marcus Nieber. Analysis of the Serotonergic System in a Mouse Model of Rett Syndrome Reveals Unusual Upregulation of Serotonin Receptor 5b. Frontiers in molecular neuroscience. vol 10. 2020-10-01. PMID:28337123. |
mutations in the transcription factor methyl-cpg-binding-protein 2 (mecp2) cause a delayed-onset neurodevelopmental disorder known as rett syndrome (rtt). |
2020-10-01 |
2023-08-13 |
mouse |
| Tao Wu, Mary E Donoho. Sequential chromatin immunoprecipitation to detect SUMOylated MeCP2 in neurons. Biochemistry and biophysics reports. vol 5. 2020-10-01. PMID:28944302. |
mutations in mecp2 lead to rett syndrome, a severe neurodevelopmental disorder. |
2020-10-01 |
2023-08-13 |
Not clear |
| Xu-Rui Jin, Xing-Shu Chen, Lan Xia. MeCP2 Deficiency in Neuroglia: New Progress in the Pathogenesis of Rett Syndrome. Frontiers in molecular neuroscience. vol 10. 2020-10-01. PMID:29046627. |
mecp2 deficiency in neuroglia: new progress in the pathogenesis of rett syndrome. |
2020-10-01 |
2023-08-13 |
mouse |
| Xu-Rui Jin, Xing-Shu Chen, Lan Xia. MeCP2 Deficiency in Neuroglia: New Progress in the Pathogenesis of Rett Syndrome. Frontiers in molecular neuroscience. vol 10. 2020-10-01. PMID:29046627. |
rett syndrome (rtt) is an x-linked neurodevelopmental disease predominantly caused by mutations of the methyl-cpg-binding protein 2 (mecp2) gene. |
2020-10-01 |
2023-08-13 |
mouse |
| Steffen Vogelgesang, Marcus Niebert, Anne M Bischoff, Swen Hülsmann, Till Manzk. Persistent Expression of Serotonin Receptor 5b Alters Breathing Behavior in Male MeCP2 Knockout Mice. Frontiers in molecular neuroscience. vol 11. 2020-10-01. PMID:29515365. |
mutations in the transcription factor methyl-cpg-binding protein 2 (mecp2) cause the neurodevelopmental disorder rett syndrome (rtt). |
2020-10-01 |
2023-08-13 |
mouse |
| Saju Balakrishnan, Sergej L Mirono. CA1 Neurons Acquire Rett Syndrome Phenotype After Brief Activation of Glutamatergic Receptors: Specific Role of mGluR1/5. Frontiers in cellular neuroscience. vol 12. 2020-10-01. PMID:30386209. |
rett syndrome (rtt) is a neurological disorder caused by the mutation of the x-linked mecp2 gene. |
2020-10-01 |
2023-08-13 |
Not clear |