| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Elena Cacciatori, Mara Lelii, Silvia Russo, Valentina Alari, Maura Masciadri, Sophie Guez, Maria Francesca Patria, Paola Marchisio, Donatella Milan. Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation. American journal of medical genetics. Part A. vol 182. issue 12. 2021-06-24. PMID:32954625. |
rett syndrome (rtt, mim * 312750) is an x-linked neurodevelopmental disorder caused by pathogenic variants at the xq28 region involving the gene methyl-cpg-binding protein 2 (mecp2, mim * 300005). |
2021-06-24 |
2023-08-13 |
Not clear |
| Shervin Pejhan, Mojgan Rastega. Role of DNA Methyl-CpG-Binding Protein MeCP2 in Rett Syndrome Pathobiology and Mechanism of Disease. Biomolecules. vol 11. issue 1. 2021-06-22. PMID:33429932. |
role of dna methyl-cpg-binding protein mecp2 in rett syndrome pathobiology and mechanism of disease. |
2021-06-22 |
2023-08-13 |
Not clear |
| Alessandra Pecorelli, Carlo Cervellati, Valeria Cordone, Joussef Hayek, Giuseppe Valacch. Compromised immune/inflammatory responses in Rett syndrome. Free radical biology & medicine. vol 152. 2021-06-18. PMID:32119978. |
mutations in x-linked gene methyl-cpg-binding protein 2 (mecp2), a key transcriptional regulator, account for most cases of rett syndrome (rtt), a devastating neurodevelopmental disorder with no known cure. |
2021-06-18 |
2023-08-13 |
Not clear |
| Vittoria Cicaloni, Alessandra Pecorelli, Laura Tinti, Marco Rossi, Mascia Benedusi, Carlo Cervellati, Ottavia Spiga, Annalisa Santucci, Joussef Hayek, Laura Salvini, Cristina Tinti, Giuseppe Valacch. Proteomic profiling reveals mitochondrial alterations in Rett syndrome. Free radical biology & medicine. vol 155. 2021-06-18. PMID:32445864. |
rett syndrome (rtt) is a pervasive neurodevelopmental disorder associated with mutation in mecp2 gene. |
2021-06-18 |
2023-08-13 |
Not clear |
| Tatiana Beskorovainaya, Fedor Konovalov, Nina Demina, Olga Shchagina, Maria Pashchenko, Ilya Kanivets, Denis Pyankov, Oxana Ryzhkova, Alexander Polyako. Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome. Journal of autism and developmental disorders. vol 51. issue 6. 2021-06-11. PMID:32816169. |
case report: complicated molecular diagnosis of mecp2 gene structural rearrangement in a proband with rett syndrome. |
2021-06-11 |
2023-08-13 |
Not clear |
| Susanna Croci, Miriam Lucia Carriero, Katia Capitani, Sergio Daga, Francesco Donati, Elisa Frullanti, Vittoria Lamacchia, Rossella Tita, Annarita Giliberti, Floriana Valentino, Elisa Benetti, Annalisa Ciabattini, Simone Furini, Caterina Lo Rizzo, Anna Maria Pinto, Silvestro Giovanni Conticello, Alessandra Renieri, Ilaria Melon. High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot. European journal of human genetics : EJHG. vol 28. issue 9. 2021-06-02. PMID:32332872. |
rett syndrome is a progressive neurodevelopmental disorder which affects almost exclusively girls, caused by variants in mecp2 gene. |
2021-06-02 |
2023-08-13 |
human |
| Yang Wu, Ningren Cui, Hao Xing, Weiwei Zhong, Colin Arrowood, Christopher M Johnson, Chun Jian. In vivo evidence for the cellular basis of central hypoventilation of Rett syndrome and pharmacological correction in the rat model. Journal of cellular physiology. 2021-06-02. PMID:34077559. |
rett syndrome (rtt) is a neurodevelopmental disorder caused mostly by mutations in the mecp2 gene. |
2021-06-02 |
2023-08-13 |
rat |
| Mayara C Ribeiro, Jessica L MacDonal. Sex differences in Mecp2-mutant Rett syndrome model mice and the impact of cellular mosaicism in phenotype development. Brain research. vol 1729. 2021-05-28. PMID:31904347. |
there is currently no effective treatment for rett syndrome (rtt), a severe x-linked progressive neurodevelopmental disorder caused by mutations in the transcriptional regulator mecp2. |
2021-05-28 |
2023-08-13 |
mouse |
| Hideyuki Nakashima, Keita Tsujimura, Koichiro Irie, Takuya Imamura, Cleber A Trujillo, Masataka Ishizu, Masahiro Uesaka, Miao Pan, Hirofumi Noguchi, Kanako Okada, Kei Aoyagi, Tomoko Andoh-Noda, Hideyuki Okano, Alysson R Muotri, Kinichi Nakashim. MeCP2 controls neural stem cell fate specification through miR-199a-mediated inhibition of BMP-Smad signaling. Cell reports. vol 35. issue 7. 2021-05-19. PMID:34010654. |
rett syndrome (rtt) is a severe neurological disorder, with impaired brain development caused by mutations in mecp2; however, the underlying mechanism remains elusive. |
2021-05-19 |
2023-08-13 |
Not clear |
| Michela Fagiolini, Annarita Patrizi, Jocelyn LeBlanc, Lee-Way Jin, Izumi Maezawa, Sarah Sinnett, Steven J Gray, Sophie Molholm, John J Foxe, Michael V Johnston, Sakkubai Naidu, Mary Blue, Ahamed Hossain, Shilpa Kadam, Xinyu Zhao, Quiang Chang, Zhaolan Zhou, Huda Zoghb. Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders. Neuroscience. vol 445. 2021-05-14. PMID:32360592. |
disruptions in the gene encoding methyl-cpg binding protein 2 (mecp2) underlie complex neurodevelopmental disorders including rett syndrome (rtt), mecp2 duplication disorder, intellectual disabilities, and autism. |
2021-05-14 |
2023-08-13 |
Not clear |
| Ana Rita Gomes, Tiago G Fernandes, Joaquim M S Cabral, Maria Margarida Diog. Modeling Rett Syndrome with Human Pluripotent Stem Cells: Mechanistic Outcomes and Future Clinical Perspectives. International journal of molecular sciences. vol 22. issue 7. 2021-05-13. PMID:33916879. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations in the gene encoding the methyl-cpg-binding protein 2 (mecp2). |
2021-05-13 |
2023-08-13 |
human |
| Osman Sharifi, Dag H Yasu. The Molecular Functions of MeCP2 in Rett Syndrome Pathology. Frontiers in genetics. vol 12. 2021-05-13. PMID:33968128. |
the molecular functions of mecp2 in rett syndrome pathology. |
2021-05-13 |
2023-08-13 |
Not clear |
| Snow Bach, Niamh M Ryan, Paolo Guasoni, Aiden P Corvin, Rania A El-Nemr, Danyal Khan, Albert Sanfeliu, Daniela Trope. Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders. Scientific reports. vol 10. issue 1. 2021-05-04. PMID:33335218. |
mecp2 and its product, methyl-cpg binding protein 2 (mecp2), are mostly known for their association to rett syndrome (rtt), a rare neurodevelopmental disorder. |
2021-05-04 |
2023-08-13 |
Not clear |
| Diana L Christian, Dennis Y Wu, Jenna R Martin, J Russell Moore, Yiran R Liu, Adam W Clemens, Sabin A Nettles, Nicole M Kirkland, Thomas Papouin, Cheryl A Hill, David F Wozniak, Joseph D Dougherty, Harrison W Gabe. DNMT3A Haploinsufficiency Results in Behavioral Deficits and Global Epigenomic Dysregulation Shared across Neurodevelopmental Disorders. Cell reports. vol 33. issue 8. 2021-04-26. PMID:33238114. |
strikingly, in these mice, we detect global disruption of neuron-enriched non-cg dna methylation, a binding site for the rett syndrome protein mecp2. |
2021-04-26 |
2023-08-13 |
mouse |
| Jiao Wang, Yushuo Xiao, Chengyu Liu, Yixue Huang, Robert B Petersen, Ling Zheng, Kun Huan. Emerging physiological and pathological roles of MeCP2 in non-neurological systems. Archives of biochemistry and biophysics. vol 700. 2021-04-20. PMID:33485848. |
initially identified as a transcriptional repressor, mecp2 specifically binds to methylated dna, and mutations of mecp2 have been shown to cause rett syndrome (rtt), a severe neurological disorder. |
2021-04-20 |
2023-08-13 |
Not clear |
| Ilaria Crivellari, Alessandra Pecorelli, Valeria Cordone, Saverio Marchi, Paolo Pinton, Joussef Hayek, Carlo Cervellati, Giuseppe Valacch. Impaired mitochondrial quality control in Rett Syndrome. Archives of biochemistry and biophysics. vol 700. 2021-04-20. PMID:33549528. |
rett syndrome (rtt) is a rare neurodevelopmental disorder caused in the 95% of cases by mutations in the x-linked mecp2 gene, affecting almost exclusively females. |
2021-04-20 |
2023-08-13 |
Not clear |
| Laura A Lavery, Kerstin Ure, Ying-Wooi Wan, Chongyuan Luo, Alexander J Trostle, Wei Wang, Haijing Jin, Joanna Lopez, Jacinta Lucero, Mark A Durham, Rosa Castanon, Joseph R Nery, Zhandong Liu, Margaret Goodell, Joseph R Ecker, M Margarita Behrens, Huda Y Zoghb. Losing Dnmt3a dependent methylation in inhibitory neurons impairs neural function by a mechanism impacting Rett syndrome. eLife. vol 9. 2021-04-14. PMID:32159514. |
importantly, the impact of mecp2 on genes differentially expressed in both models shows a strong dependence on mch, but not dnmt3a dependent mcg, consistent with mch playing a central role in the pathogenesis of rett syndrome. |
2021-04-14 |
2023-08-13 |
mouse |
| Alessio Cortelazzo, Claudio De Felice, Jacky Guy, Anna Maria Timperio, Lello Zolla, Roberto Guerranti, Silvia Leoncini, Cinzia Signorini, Thierry Durand, Joussef Haye. Brain protein changes in Mecp2 mouse mutant models: Effects on disease progression of Mecp2 brain specific gene reactivation. Journal of proteomics. vol 210. 2021-04-07. PMID:31629059. |
rett syndrome (rtt) is a leading cause of severe intellectual disability in females, caused by de novo loss-of function mutations in the x-linked methyl-cpg binding protein 2 (mecp2). |
2021-04-07 |
2023-08-13 |
mouse |
| Mirko Luoni, Serena Giannelli, Marzia Tina Indrigo, Antonio Niro, Luca Massimino, Angelo Iannielli, Laura Passeri, Fabio Russo, Giuseppe Morabito, Piera Calamita, Silvia Gregori, Benjamin Deverman, Vania Broccol. Whole brain delivery of an instability-prone eLife. vol 9. 2021-04-07. PMID:32207685. |
whole brain delivery of an instability-prone rett syndrome is an incurable neurodevelopmental disorder caused by mutations in the gene encoding for methyl-cpg binding-protein 2 (mecp2). |
2021-04-07 |
2023-08-13 |
Not clear |
| Christopher S Ward, Teng-Wei Huang, Jose A Herrera, Rodney C Samaco, Christopher M McGraw, Diana E Parra, E Melissa Arvide, Aya Ito-Ishida, Xiangling Meng, Kerstin Ure, Huda Y Zoghbi, Jeffrey L Neu. Loss of MeCP2 Function Across Several Neuronal Populations Impairs Breathing Response to Acute Hypoxia. Frontiers in neurology. vol 11. 2021-04-02. PMID:33193060. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by loss of function of the transcriptional regulator methyl-cpg-binding protein 2 (mecp2). |
2021-04-02 |
2023-08-13 |
mouse |