| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Yi Gu, Bingwu Xiang, Lina Zhu, Xiuwei Ma, Xiang Chen, Tao Ca. Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis. BMC medical genetics. vol 21. issue 1. 2020-07-16. PMID:32393352. |
among them, mutations in the methyl cpg binding protein 2 (mecp2) gene are the leading cause of rett syndrome and associated id. |
2020-07-16 |
2023-08-13 |
Not clear |
| Olga V Sysoeva, Kirill Smirnov, Tatiana A Stroganov. Sensory evoked potentials in patients with Rett syndrome through the lens of animal studies: Systematic review. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. vol 131. issue 1. 2020-07-06. PMID:31812082. |
systematically review the abnormalities in event related potential (erp) recorded in rett syndrome (rtt) patients and animals in search of translational biomarkers of deficits related to the particular neurophysiological processes of known genetic origin (mecp2 mutations). |
2020-07-06 |
2023-08-13 |
Not clear |
| Silvia Vidal, Ainhoa Pascual-Alonso, Marc Rabaza-Gairí, Edgar Gerotina, Nuria Brandi, Paola Pacheco, Clara Xiol, Mercè Pineda, Judith Armstron. Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis. Molecular genetics & genomic medicine. vol 7. issue 8. 2020-06-22. PMID:31206249. |
characterization of large deletions of the mecp2 gene in rett syndrome patients by gene dosage analysis. |
2020-06-22 |
2023-08-13 |
Not clear |
| Elizabeth C Ballinger, Christian P Schaaf, Akash J Patel, Antonia de Maio, Huifang Tao, David A Talmage, Huda Y Zoghbi, Lorna W Rol. eNeuro. vol 6. issue 6. 2020-06-03. PMID:31562178. |
rett syndrome is a neurological disorder caused by mutations in the gene encoding methyl cpg binding protein 2 (mecp2) and characterized by severe intellectual disability. |
2020-06-03 |
2023-08-13 |
Not clear |
| Marwa Kharrat, Chahnez Triki, Marwa Maalej, Sihem Ncir, Marwa Ammar, Fatma Kammoun, Faiza Fakhfak. First description of an unusual novel double mutation in MECP2 co-occurring with the m.827A>G mutation in the MT-RNR1 gene associated with angelman-like syndrome. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. vol 79. 2020-05-11. PMID:31647993. |
mutations in methyl-cpg-binding protein 2 (mecp2), located on xq28 and encoding a methyl cpg binding protein, are commonly related to rett syndrome. |
2020-05-11 |
2023-08-13 |
Not clear |
| Rahul Krishnaraj, Florencia Haase, Bronte Coorey, Edward J Luca, Ingar Wong, Alexandra Boyling, Carolyn Ellaway, John Christodoulou, Wendy A Gol. Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets. Human mutation. vol 40. issue 12. 2020-05-04. PMID:31379106. |
the discovery that rett syndrome is caused by mutations in the mecp2 gene has provided a major breakthrough in our understanding of the disorder. |
2020-05-04 |
2023-08-13 |
mouse |
| Ruizhu Zeng, Harwin Sidik, Kim S Robinson, Franklin L Zhong, Bruno Reversade, Mahmoud A Poulad. Generation of four H1 hESC sublines carrying a hemizygous knock-out/mutant MECP2. Stem cell research. vol 40. 2020-04-30. PMID:31450191. |
rett syndrome (rtt) is a childhood neurodevelopmental disorder caused by mutations in mecp2. |
2020-04-30 |
2023-08-13 |
Not clear |
| Alessandra Pecorelli, Carlo Cervellati, Valeria Cordone, Fernanda Amicarelli, Joussef Hayek, Giuseppe Valacch. 13-HODE, 9-HODE and ALOX15 as potential players in Rett syndrome OxInflammation. Free radical biology & medicine. vol 134. 2020-04-21. PMID:30743046. |
mutations in the mecp2 gene are the main cause of rett syndrome (rtt), a pervasive neurodevelopmental disorder, that shows also multisystem disturbances associated with a metabolic component. |
2020-04-21 |
2023-08-13 |
Not clear |
| Susan A Rose, Sam Wass, Jeffery J Jankowski, Judith F Feldman, Aleksandra Djuki. Impaired Visual Search in Children with Rett Syndrome. Pediatric neurology. vol 92. 2020-04-20. PMID:30573328. |
this study aims to investigate selective attention in rett syndrome, a severely disabling neurodevelopmental disorder caused by mutations in the x-linked mecp2 gene. |
2020-04-20 |
2023-08-13 |
Not clear |
| Janaina Sena de Souza, Divino Romão Ferreira, Roberto Herai, Cassiano Carromeu, Laila Brito Torres, Bruno Henrique Silva Araujo, Fernanda Cugola, Rui M B Maciel, Alysson Renato Muotri, Gisele Giannocc. Altered Gene Expression of Thyroid Hormone Transporters and Deiodinases in iPS MeCP2-Knockout Cells-Derived Neurons. Molecular neurobiology. vol 56. issue 12. 2020-04-02. PMID:31214863. |
mecp2 is an x-linked gene; its mutation causes rett syndrome (rtt), a severe neurodevelopmental disability that affects mainly girls. |
2020-04-02 |
2023-08-13 |
Not clear |
| Justyna Cholewa-Waclaw, Ruth Shah, Shaun Webb, Kashyap Chhatbar, Bernard Ramsahoye, Oliver Pusch, Miao Yu, Philip Greulich, Bartlomiej Waclaw, Adrian P Bir. Quantitative modelling predicts the impact of DNA methylation on RNA polymerase II traffic. Proceedings of the National Academy of Sciences of the United States of America. vol 116. issue 30. 2020-03-31. PMID:31289233. |
an example is mecp2, an abundant methylated-dna binding protein that is mutated in the neurological disorder rett syndrome. |
2020-03-31 |
2023-08-13 |
mouse |
| Lisa D Boxer, William Renthal, Alexander W Greben, Tess Whitwam, Andrew Silberfeld, Hume Stroud, Emmy Li, Marty G Yang, Benyam Kinde, Eric C Griffith, Boyan Bonev, Michael E Greenber. MeCP2 Represses the Rate of Transcriptional Initiation of Highly Methylated Long Genes. Molecular cell. vol 77. issue 2. 2020-03-31. PMID:31784358. |
mutations in the methyl-dna-binding repressor protein mecp2 cause the devastating neurodevelopmental disorder rett syndrome. |
2020-03-31 |
2023-08-13 |
Not clear |
| Adam W Clemens, Dennis Y Wu, J Russell Moore, Diana L Christian, Guoyan Zhao, Harrison W Gabe. MeCP2 Represses Enhancers through Chromosome Topology-Associated DNA Methylation. Molecular cell. vol 77. issue 2. 2020-03-31. PMID:31784360. |
the genomes of mammalian neurons contain uniquely high levels of non-cg dna methylation that can be bound by the rett syndrome protein, mecp2, to regulate gene expression. |
2020-03-31 |
2023-08-13 |
Not clear |
| Pranav Sharma, Pinar Mesci, Cassiano Carromeu, Daniel R McClatchy, Lucio Schiapparelli, John R Yates, Alysson R Muotri, Hollis T Clin. Exosomes regulate neurogenesis and circuit assembly. Proceedings of the National Academy of Sciences of the United States of America. vol 116. issue 32. 2020-03-30. PMID:31320591. |
we compared the protein cargo and signaling bioactivity of exosomes released by hipsc-derived neural cultures lacking mecp2, a model of the neurodevelopmental disorder rett syndrome, with exosomes released by isogenic rescue control neural cultures. |
2020-03-30 |
2023-08-13 |
mouse |
| D Hettiarachchi, N F Neththikumara, B A P S Pathirana, V H W Dissanayak. Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome. Journal of autism and developmental disorders. vol 50. issue 1. 2020-03-30. PMID:31535341. |
variant profile of mecp2 gene in sri lankan patients with rett syndrome. |
2020-03-30 |
2023-08-13 |
Not clear |
| Eunice W M Chin, Eyleen L K Go. MeCP2 Dysfunction in Rett Syndrome and Neuropsychiatric Disorders. Methods in molecular biology (Clifton, N.J.). vol 2011. 2020-03-19. PMID:31273722. |
mecp2 dysfunction in rett syndrome and neuropsychiatric disorders. |
2020-03-19 |
2023-08-13 |
mouse |
| Eunice W M Chin, Eyleen L K Go. MeCP2 Dysfunction in Rett Syndrome and Neuropsychiatric Disorders. Methods in molecular biology (Clifton, N.J.). vol 2011. 2020-03-19. PMID:31273722. |
one such gene is methyl-cpg-binding protein 2 (mecp2), which has been most prominently associated with the neurodevelopmental disorder rett syndrome, as well as major neuropsychiatric disorders such as autism and schizophrenia. |
2020-03-19 |
2023-08-13 |
mouse |
| Eunice W M Chin, Eyleen L K Go. MeCP2 Dysfunction in Rett Syndrome and Neuropsychiatric Disorders. Methods in molecular biology (Clifton, N.J.). vol 2011. 2020-03-19. PMID:31273722. |
in this chapter, we will briefly review the functions of the mecp2 protein and how its mutations are implicated in rett syndrome and other neuropsychiatric disorders. |
2020-03-19 |
2023-08-13 |
mouse |
| Eunice W M Chin, Eyleen L K Go. Behavioral Characterization of MeCP2 Dysfunction-Associated Rett Syndrome and Neuropsychiatric Disorders. Methods in molecular biology (Clifton, N.J.). vol 2011. 2020-03-19. PMID:31273723. |
behavioral characterization of mecp2 dysfunction-associated rett syndrome and neuropsychiatric disorders. |
2020-03-19 |
2023-08-13 |
mouse |
| Eunice W M Chin, Eyleen L K Go. Behavioral Characterization of MeCP2 Dysfunction-Associated Rett Syndrome and Neuropsychiatric Disorders. Methods in molecular biology (Clifton, N.J.). vol 2011. 2020-03-19. PMID:31273723. |
the methyl-cpg-binding protein 2 (mecp2) gene has been implicated in multiple neuropsychiatric disorders such as autism and schizophrenia and, most notably, rett syndrome (rtt). |
2020-03-19 |
2023-08-13 |
mouse |