All Relations between Rett Syndrome and mecp2

Publication Sentence Publish Date Extraction Date Species
Juan I Pieras, Beatriz Muñoz-Cabello, Salud Borrego, Irene Marcos, Javier Sanchez, Marcos Madruga, Guillermo Antiñol. Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male. Brain & development. vol 33. issue 7. 2011-11-15. PMID:20970936. somatic mosaicism for y120x mutation in the mecp2 gene causes atypical rett syndrome in a male. 2011-11-15 2023-08-12 Not clear
Kamal K E Gadalla, Mark E S Bailey, Stuart R Cob. MeCP2 and Rett syndrome: reversibility and potential avenues for therapy. The Biochemical journal. vol 439. issue 1. 2011-11-14. PMID:21916843. mecp2 and rett syndrome: reversibility and potential avenues for therapy. 2011-11-14 2023-08-12 mouse
Kamal K E Gadalla, Mark E S Bailey, Stuart R Cob. MeCP2 and Rett syndrome: reversibility and potential avenues for therapy. The Biochemical journal. vol 439. issue 1. 2011-11-14. PMID:21916843. mutations in the x-linked gene mecp2 (methyl cpg-binding protein 2) are the primary cause of the neurodevelopmental disorder rtt (rett syndrome), and are also implicated in other neurological conditions. 2011-11-14 2023-08-12 mouse
Erika D Nelson, Manjot Bal, Ege T Kavalali, Lisa M Monteggi. Selective impact of MeCP2 and associated histone deacetylases on the dynamics of evoked excitatory neurotransmission. Journal of neurophysiology. vol 106. issue 1. 2011-11-08. PMID:21511710. previous studies examining spontaneous levels of excitatory and inhibitory neurotransmission in the forebrain regions of methyl-cpg-binding protein 2 (mecp2) mutant mice, models of the autism spectrum disorder rett syndrome, have identified a decrease in excitatory drive, in some cases coupled with an increase in inhibitory synaptic strength, as a major source of this imbalance. 2011-11-08 2023-08-12 mouse
Manuela Vecsler, Bruria Ben Zeev, Igor Nudelman, Yair Anikster, Amos J Simon, Ninette Amariglio, Gideon Rechavi, Timor Baasov, Eva Ga. Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations. PloS one. vol 6. issue 6. 2011-11-02. PMID:21695138. ex vivo treatment with a novel synthetic aminoglycoside nb54 in primary fibroblasts from rett syndrome patients suppresses mecp2 nonsense mutations. 2011-11-02 2023-08-12 human
Manuela Vecsler, Bruria Ben Zeev, Igor Nudelman, Yair Anikster, Amos J Simon, Ninette Amariglio, Gideon Rechavi, Timor Baasov, Eva Ga. Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations. PloS one. vol 6. issue 6. 2011-11-02. PMID:21695138. nonsense mutations in the x-linked methyl cpg-binding protein 2 (mecp2) comprise a significant proportion of causative mecp2 mutations in rett syndrome (rtt). 2011-11-02 2023-08-12 human
Derek M Murphy, Patrick G Buckley, Sudipto Das, Karen M Watters, Kenneth Bryan, Raymond L Stalling. Co-localization of the oncogenic transcription factor MYCN and the DNA methyl binding protein MeCP2 at genomic sites in neuroblastoma. PloS one. vol 6. issue 6. 2011-11-02. PMID:21731748. mecp2 is a cpg methyl binding protein which has been associated with a number of cancers and developmental disorders, particularly rett syndrome. 2011-11-02 2023-08-12 Not clear
Kunio Miyake, Takae Hirasawa, Masaki Soutome, Masayuki Itoh, Yu-ichi Goto, Kazushi Endoh, Kenichiro Takahashi, Shinichi Kudo, Takayuki Nakagawa, Sana Yokoi, Takahiro Taira, Johji Inazawa, Takeo Kubot. The protocadherins, PCDHB1 and PCDH7, are regulated by MeCP2 in neuronal cells and brain tissues: implication for pathogenesis of Rett syndrome. BMC neuroscience. vol 12. 2011-10-26. PMID:21824415. the protocadherins, pcdhb1 and pcdh7, are regulated by mecp2 in neuronal cells and brain tissues: implication for pathogenesis of rett syndrome. 2011-10-26 2023-08-12 Not clear
Kunio Miyake, Takae Hirasawa, Masaki Soutome, Masayuki Itoh, Yu-ichi Goto, Kazushi Endoh, Kenichiro Takahashi, Shinichi Kudo, Takayuki Nakagawa, Sana Yokoi, Takahiro Taira, Johji Inazawa, Takeo Kubot. The protocadherins, PCDHB1 and PCDH7, are regulated by MeCP2 in neuronal cells and brain tissues: implication for pathogenesis of Rett syndrome. BMC neuroscience. vol 12. 2011-10-26. PMID:21824415. rett syndrome is a neurodevelopmental and autistic disease caused by mutations of methyl-cpg-binding protein 2 (mecp2) gene. 2011-10-26 2023-08-12 Not clear
Kunio Miyake, Takae Hirasawa, Masaki Soutome, Masayuki Itoh, Yu-ichi Goto, Kazushi Endoh, Kenichiro Takahashi, Shinichi Kudo, Takayuki Nakagawa, Sana Yokoi, Takahiro Taira, Johji Inazawa, Takeo Kubot. The protocadherins, PCDHB1 and PCDH7, are regulated by MeCP2 in neuronal cells and brain tissues: implication for pathogenesis of Rett syndrome. BMC neuroscience. vol 12. 2011-10-26. PMID:21824415. mecp2 protein is mainly expressed in neurons and binds to methylated gene promoters to suppress their expression, indicating that rett syndrome is caused by the deregulation of target genes in neurons. 2011-10-26 2023-08-12 Not clear
Stephanie C Gantz, Christopher P Ford, Kim A Neve, John T William. Loss of Mecp2 in substantia nigra dopamine neurons compromises the nigrostriatal pathway. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 31. issue 35. 2011-10-21. PMID:21880923. mutations in the methyl-cpg-binding protein 2 (mecp2) result in rett syndrome (rtt), an x-linked disorder that disrupts neurodevelopment. 2011-10-21 2023-08-12 mouse
Judith E Allanson, Raoul C M Hennekam, Ute Moog, Eric E Smeet. Rett syndrome: a study of the face. American journal of medical genetics. Part A. vol 155A. issue 7. 2011-10-14. PMID:21626673. thirty-five of them had a documented mutation in mecp2 while the remaining two fulfilled the clinical criteria for rett syndrome and had been diagnosed by an experienced clinician. 2011-10-14 2023-08-12 Not clear
Cinzia Signorini, Claudio De Felice, Silvia Leoncini, Anna Giardini, Maurizio D'Esposito, Stefania Filosa, Floriana Della Ragione, Marcello Rossi, Alessandra Pecorelli, Giuseppe Valacchi, Lucia Ciccoli, Joussef Haye. F₄-neuroprostanes mediate neurological severity in Rett syndrome. Clinica chimica acta; international journal of clinical chemistry. vol 412. issue 15-16. 2011-09-30. PMID:21530498. rett syndrome (rtt) is a pervasive development disorder, mainly caused by mutations in the methyl-cpg binding protein 2 (mecp2) gene. 2011-09-30 2023-08-12 Not clear
Gaston Calfa, John J Hablitz, Lucas Pozzo-Mille. Network hyperexcitability in hippocampal slices from Mecp2 mutant mice revealed by voltage-sensitive dye imaging. Journal of neurophysiology. vol 105. issue 4. 2011-09-29. PMID:21307327. dysfunctions of neuronal and network excitability have emerged as common features in disorders associated with intellectual disabilities, autism, and seizure activity, all common clinical manifestations of rett syndrome (rtt), a neurodevelopmental disorder caused by loss-of-function mutations in the transcriptional regulator methyl-cpg-binding protein 2 (mecp2). 2011-09-29 2023-08-12 mouse
Sol Díaz de León-Guerrero, Gustavo Pedraza-Alva, Leonor Pérez-Martíne. In sickness and in health: the role of methyl-CpG binding protein 2 in the central nervous system. The European journal of neuroscience. vol 33. issue 9. 2011-09-16. PMID:21453447. in this review we focus on the role of the methyl-cpg binding protein 2 (mecp2) during development of the central nervous system and its involvement in rett syndrome. 2011-09-16 2023-08-12 Not clear
Sol Díaz de León-Guerrero, Gustavo Pedraza-Alva, Leonor Pérez-Martíne. In sickness and in health: the role of methyl-CpG binding protein 2 in the central nervous system. The European journal of neuroscience. vol 33. issue 9. 2011-09-16. PMID:21453447. next, we discuss evidence of how mecp2 deficiency or loss of function results in aberrant gene expression leading to rett syndrome. 2011-09-16 2023-08-12 Not clear
Nicolas Panayotis, Adeline Ghata, Laurent Villard, Jean-Christophe Rou. Biogenic amines and their metabolites are differentially affected in the Mecp2-deficient mouse brain. BMC neuroscience. vol 12. 2011-09-12. PMID:21609470. rett syndrome (rtt, mim #312750) is a severe neurological disorder caused by mutations in the x-linked methyl-cpg binding protein 2 (mecp2) gene. 2011-09-12 2023-08-12 mouse
Christopher S Ward, E Melissa Arvide, Teng-Wei Huang, Jong Yoo, Jeffrey L Noebels, Jeffrey L Neu. MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 31. issue 28. 2011-09-12. PMID:21753013. rett syndrome is a neurodevelopmental disorder caused by mutations in methyl-cpg-binding protein 2 (mecp2), a transcriptional regulator. 2011-09-12 2023-08-12 mouse
Christopher S Ward, E Melissa Arvide, Teng-Wei Huang, Jong Yoo, Jeffrey L Noebels, Jeffrey L Neu. MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 31. issue 28. 2011-09-12. PMID:21753013. furthermore, restoring mecp2 function in neural centers critical for autonomic and respiratory function alleviates the lethality associated with loss of mecp2 function, supporting the notion of targeted therapy toward treating rett syndrome. 2011-09-12 2023-08-12 mouse
Aaron Y L Cheung, Lindsay M Horvath, Daria Grafodatskaya, Peter Pasceri, Rosanna Weksberg, Akitsu Hotta, Laura Carrel, James Elli. Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. Human molecular genetics. vol 20. issue 11. 2011-08-23. PMID:21372149. rett syndrome (rtt) is a neurodevelopmental autism spectrum disorder that affects girls due primarily to mutations in the gene encoding methyl-cpg binding protein 2 (mecp2). 2011-08-23 2023-08-12 human