| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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. |
loss of mecp2 leads to a host of synaptic phenotypes that are believed to underlie rett syndrome pathophysiology. |
2022-07-19 |
2023-08-14 |
mouse |
| Pan Xu, Yuanlei Yue, Juntao Su, Xiaoqian Sun, Hongfei Du, Zhichao Liu, Rahul Simha, Jianhui Zhou, Chen Zeng, Hui L. Pattern decorrelation in the mouse medial prefrontal cortex enables social preference and requires MeCP2. Nature communications. vol 13. issue 1. 2022-07-06. PMID:35794118. |
sociability is crucial for survival, whereas social avoidance is a feature of disorders such as rett syndrome, which is caused by loss-of-function mutations in mecp2. |
2022-07-06 |
2023-08-14 |
mouse |
| Wei-Jia Zhang, Ling-Ling Shi, Li Zhan. Dysregulated cortical synaptic plasticity under methyl-CpG binding protein 2 deficiency and its implication in motor impairments. World journal of psychiatry. vol 12. issue 5. 2022-06-06. PMID:35663301. |
caused by the mutation of methyl-cpg binding protein 2 (mecp2), rett syndrome leads to a battery of severe neural dysfunctions including the regression of motor coordination and motor learning. |
2022-06-06 |
2023-08-14 |
human |
| Jee Ah Kim, Won Kyung Kwon, Jong-Won Kim, Ja-Hyun Jan. Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline. Journal of human genetics. 2022-05-23. PMID:35606502. |
rett syndrome (rtt) is a progressive neurodevelopmental disorder caused by variants in mecp2. |
2022-05-23 |
2023-08-13 |
Not clear |
| Caroline B Buchanan, Jennifer L Stallworth, Aubin E Joy, Rebekah E Dixon, Alexandra E Scott, Arthur A Beisang, Timothy A Benke, Daniel G Glaze, Richard H Haas, Peter T Heydemann, Mary D Jones, Jane B Lane, David N Lieberman, Eric D Marsh, Jeffrey L Neul, Sarika U Peters, Robin C Ryther, Steve A Skinner, Shannon M Standridge, Walter E Kaufmann, Alan K Perc. Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study. Journal of neurodevelopmental disorders. vol 14. issue 1. 2022-05-15. PMID:35568815. |
rett syndrome (rtt) is a neurodevelopmental disorder most often related to a pathogenic variant in the x-linked mecp2 gene. |
2022-05-15 |
2023-08-13 |
Not clear |
| Alexander V Beribisky, Hannes Steinkellner, Sofia Geislberger, Anna Huber, Victoria Sarne, John Christodoulou, Franco Laccon. Expression, Purification, Characterization and Cellular Uptake of MeCP2 Variants. The protein journal. 2022-05-13. PMID:35546650. |
the transcriptional regulator methyl-cpg-binding protein 2 (mecp2) is an intrinsically disordered protein, mutations in which, are implicated in the onset of rett syndrome, a severe and debilitating neurodevelopmental disorder. |
2022-05-13 |
2023-08-13 |
human |
| Alexander V Beribisky, Hannes Steinkellner, Sofia Geislberger, Anna Huber, Victoria Sarne, John Christodoulou, Franco Laccon. Expression, Purification, Characterization and Cellular Uptake of MeCP2 Variants. The protein journal. 2022-05-13. PMID:35546650. |
delivery of this protein fused to the cell-penetrating peptide tat could allow for the intracellular replenishment of functional mecp2 and hence potentially serve as a prospective rett syndrome therapy. |
2022-05-13 |
2023-08-13 |
human |
| Lara R DeRuisseau, Lyna Mora, Ash Zheng, B S Amin, Samuel O Bonsu, Burak T Cilhoroz, Keith C DeRuisseau, Angelica M Kowalchuk, Jessica L MacDonal. Vitamin D Supplementation Partially Rescues Breathing Deficits in Mecp2 Hemizygous Null Mice, a Model of Rett Syndrome. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. vol 36 Suppl 1. 2022-05-13. PMID:35555335. |
vitamin d supplementation partially rescues breathing deficits in mecp2 hemizygous null mice, a model of rett syndrome. |
2022-05-13 |
2023-08-13 |
mouse |
| Hannes Steinkellner, Prakasha Kempaiah, Alexander V Beribisky, Sandra Pferschy, Julia Etzler, Anna Huber, Victoria Sarne, Winfried Neuhaus, Mario Kuttke, Jan Bauer, Jayamuruga P Arunachalam, John Christodoulou, Ralf Dressel, Alexander Mildner, Marco Prinz, Franco Laccon. TAT-MeCP2 protein variants rescue disease phenotypes in human and mouse models of Rett syndrome. International journal of biological macromolecules. 2022-04-23. PMID:35460749. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by pathogenic variants leading to functional impairment of the mecp2 protein. |
2022-04-23 |
2023-08-13 |
mouse |
| Martina Zandl-Lang, Thomas Züllig, Martin Trötzmüller, Yvonne Naegelin, Lucia Abela, Bernd Wilken, Sabine Scholl-Buergi, Daniela Karall, Ludwig Kappos, Harald Köfeler, Barbara Pleck. Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome. Metabolites. vol 12. issue 4. 2022-04-21. PMID:35448478. |
rett syndrome (rtt) is defined as a rare disease caused by mutations of the methyl-cpg binding protein 2 (mecp2). |
2022-04-21 |
2023-08-13 |
mouse |
| Ellen N Hurley, Carolyn J Ellaway, Alexandra M Johnson, Linda Truong, Rebecca Gordon, Peter Galettis, Jennifer H Martin, John A Lawso. The efficacy and safety of cannabidivarin treatment on epilepsy in girls with Rett syndrome: A phase I clinical trial. Epilepsia. 2022-04-01. PMID:35364618. |
rett syndrome (rtt), commonly caused by methyl-cpg-binding protein 2 (mecp2) pathogenic variants, has many co-morbidities. |
2022-04-01 |
2023-08-13 |
Not clear |
| Javier Flores Gutiérrez, Giulia Natali, Jacopo Giorgi, Elvira De Leonibus, Enrico Tongiorg. Mirtazapine treatment in a young female mouse model of Rett syndrome identifies time windows for the rescue of early phenotypes. Experimental neurology. 2022-03-31. PMID:35358499. |
rett syndrome (rtt) is a rare x-linked neurodevelopmental disorder, mainly caused by mutations in the mecp2 gene. |
2022-03-31 |
2023-08-13 |
mouse |
| Xiaolan Fang, Kameryn M Butler, Fatima Abidi, Jennifer Gass, Arthur Beisang, Timothy Feyma, Robin C Ryther, Shannon Standridge, Peter Heydemann, Mary Jones, Richard Haas, David N Lieberman, Eric D Marsh, Tim A Benke, Steve Skinner, Jeffrey L Neul, Alan K Percy, Michael J Friez, Raymond C Caylo. Analysis of X-inactivation status in a Rett syndrome natural history study cohort. Molecular genetics & genomic medicine. 2022-03-23. PMID:35318820. |
rett syndrome (rtt) is a rare neurodevelopmental disorder associated with pathogenic mecp2 variants. |
2022-03-23 |
2023-08-13 |
human |
| Daniel Ta, Jenny Downs, Gareth Baynam, Andrew Wilson, Peter Richmond, Helen Leonar. A brief history of MECP2 duplication syndrome: 20-years of clinical understanding. Orphanet journal of rare diseases. vol 17. issue 1. 2022-03-22. PMID:35313898. |
mecp2 duplication syndrome (mds) is a rare, x-linked, neurodevelopmental disorder caused by a duplication of the methyl-cpg-binding protein 2 (mecp2) gene-a gene in which loss-of-function mutations lead to rett syndrome (rtt). |
2022-03-22 |
2023-08-13 |
Not clear |
| Wessam E Sharaf-Eldin, Mahmoud Y Issa, Maha S Zaki, Ayman Kilany, Alaaeldin G Faye. Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients. Journal, genetic engineering & biotechnology. vol 20. issue 1. 2022-03-11. PMID:35275316. |
mutations in the mecp2 gene are the main cause of rett syndrome (rtt). |
2022-03-11 |
2023-08-13 |
Not clear |
| Rosa Angela Fabio, Martina Semino, Samantha Giannatiemp. The GAIRS Checklist: a useful global assessment tool in patients with Rett syndrome. Orphanet journal of rare diseases. vol 17. issue 1. 2022-03-06. PMID:35248112. |
rett syndrome is a severe, neurodevelopmental disorder mainly caused by mutations in the mecp2 gene, affecting around 1 in 10,000 female births. |
2022-03-06 |
2023-08-13 |
Not clear |
| Niklas-Benedikt Grimm, Jeannie T Le. Selective Xi reactivation and alternative methods to restore MECP2 function in Rett syndrome. Trends in genetics : TIG. 2022-03-06. PMID:35248405. |
selective xi reactivation and alternative methods to restore mecp2 function in rett syndrome. |
2022-03-06 |
2023-08-13 |
human |
| Niklas-Benedikt Grimm, Jeannie T Le. Selective Xi reactivation and alternative methods to restore MECP2 function in Rett syndrome. Trends in genetics : TIG. 2022-03-06. PMID:35248405. |
here, we discuss rett syndrome and compare current approaches in the pharmaceutical pipeline to restore mecp2 function. |
2022-03-06 |
2023-08-13 |
human |
| Sheryl Anne D Vermudez, Aditi Buch, Kelly Weiss, Rocco G Gogliotti, Colleen M Niswende. Exploration of group II metabotropic glutamate receptor modulation in mouse models of Rett syndrome and MECP2 Duplication syndrome. Neuropharmacology. 2022-03-06. PMID:35248529. |
exploration of group ii metabotropic glutamate receptor modulation in mouse models of rett syndrome and mecp2 duplication syndrome. |
2022-03-06 |
2023-08-13 |
mouse |
| Sheryl Anne D Vermudez, Aditi Buch, Kelly Weiss, Rocco G Gogliotti, Colleen M Niswende. Exploration of group II metabotropic glutamate receptor modulation in mouse models of Rett syndrome and MECP2 Duplication syndrome. Neuropharmacology. 2022-03-06. PMID:35248529. |
rett syndrome (rtt) and mecp2 duplication syndrome (mds) have opposing molecular origins in relation to expression and function of the transcriptional regulator methyl-cpg-binding protein 2 (mecp2). |
2022-03-06 |
2023-08-13 |
mouse |