All Relations between Rett Syndrome and mecp2

Publication Sentence Publish Date Extraction Date Species
Min Lang, Robert G Wither, Sinisa Colic, Chiping Wu, Philippe P Monnier, Berj L Bardakjian, Liang Zhang, James H Eubank. Rescue of behavioral and EEG deficits in male and female Mecp2-deficient mice by delayed Mecp2 gene reactivation. Human molecular genetics. vol 23. issue 2. 2014-08-05. PMID:24009314. while encouraging for prospective gene replacement treatments, it remains unclear whether additional rett syndrome co-morbidities recapitulated in mecp2-deficient mice will be similarly responsive to the delayed reintroduction of functional mecp2. 2014-08-05 2023-08-12 mouse
C De Felice, C Signorini, S Leoncini, A Pecorelli, T Durand, G Valacchi, L Ciccoli, J Haye. [Oxidative stress and Rett syndrome]. Minerva pediatrica. vol 66. issue 1. 2014-07-29. PMID:24608581. the oxidative stress (os) hypothesis is able to explain several features of rett syndrome (rtt), a pervasive development disorder almost exclusively affecting females mainly caused by a mutation in the x-linked methyl-cpg binding protein 2 (mecp2) gene. 2014-07-29 2023-08-12 Not clear
Michael V Johnston, Simon Ammanuel, Cliona O'Driscoll, Amy Wozniak, Sakkubai Naidu, Shilpa D Kada. Twenty-four hour quantitative-EEG and in-vivo glutamate biosensor detects activity and circadian rhythm dependent biomarkers of pathogenesis in Mecp2 null mice. Frontiers in systems neuroscience. vol 8. 2014-07-14. PMID:25018705. mutations in the x-linked gene encoding methyl-cpg-binding protein 2 (mecp2) cause most cases of rett syndrome (rtt). 2014-07-14 2023-08-13 mouse
Monica J Justice, Christie M Buchovecky, Stephanie M Kyle, Aleksandra Djuki. A role for metabolism in Rett syndrome pathogenesis: New clinical findings and potential treatment targets. Rare diseases (Austin, Tex.). vol 1. 2014-07-08. PMID:25003017. rett syndrome (rtt), an x-linked neurological disorder caused by mutations in mecp2, may have a metabolic component. 2014-07-08 2023-08-13 mouse
M Moroto, A Nishimura, M Morimoto, K Isoda, T Morita, M Yoshida, S Morioka, T Tozawa, T Hasegawa, T Chiyonobu, K Yoshimoto, H Hoso. Altered somatosensory barrel cortex refinement in the developing brain of Mecp2-null mice. Brain research. vol 1537. 2014-06-25. PMID:24060648. rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations in the methyl-cpg binding protein 2 (mecp2) gene. 2014-06-25 2023-08-12 mouse
Sinisa Colic, Min Lang, Robert G Wither, James H Eubanks, Zhang Liang, Berj L Bardakjia. Low frequency-modulated high frequency oscillations in seizure-like events recorded from in-vivo MeCP2-deficient mice. Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference. vol 2013. 2014-06-19. PMID:24109855. rett syndrome is a neurodevelopmental condition caused by mutations in the gene encoding methyl cpg-binding protein 2 (mecp2). 2014-06-19 2023-08-12 mouse
Omar S Khwaja, Eugenia Ho, Katherine V Barnes, Heather M O'Leary, Luis M Pereira, Yaron Finkelstein, Charles A Nelson, Vanessa Vogel-Farley, Geneva DeGregorio, Ingrid A Holm, Umakanth Khatwa, Kush Kapur, Mark E Alexander, Deirdre M Finnegan, Nicole G Cantwell, Alexandra C Walco, Leonard Rappaport, Matt Gregas, Raina N Fichorova, Michael W Shannon, Mriganka Sur, Walter E Kaufman. Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome. Proceedings of the National Academy of Sciences of the United States of America. vol 111. issue 12. 2014-06-17. PMID:24623853. rett syndrome (rtt) is a severe x-linked neurodevelopmental disorder mainly affecting females and is associated with mutations in mecp2, the gene encoding methyl cpg-binding protein 2. 2014-06-17 2023-08-12 mouse
Ana P Abdala, John M Bissonnette, Adrian Newman-Tancred. Pinpointing brainstem mechanisms responsible for autonomic dysfunction in Rett syndrome: therapeutic perspectives for 5-HT1A agonists. Frontiers in physiology. vol 5. 2014-06-09. PMID:24910619. rett syndrome is a neurological disorder caused by loss of function of methyl-cpg-binding protein 2 (mecp2). 2014-06-09 2023-08-13 Not clear
J T Plummer, O V Evgrafov, M Y Bergman, M Friez, C A Haiman, P Levitt, K A Aldinge. Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome. Translational psychiatry. vol 3. 2014-06-05. PMID:24150225. transcriptional regulation of the met receptor tyrosine kinase gene by mecp2 and sex-specific expression in autism and rett syndrome. 2014-06-05 2023-08-12 human
J T Plummer, O V Evgrafov, M Y Bergman, M Friez, C A Haiman, P Levitt, K A Aldinge. Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome. Translational psychiatry. vol 3. 2014-06-05. PMID:24150225. mutations in mecp2 cause rett syndrome (rtt), a predominantly female neurodevelopmental disorder sharing some asd clinical symptoms. 2014-06-05 2023-08-12 human
Rishi R Dhingra, Yenan Zhu, Frank J Jacono, David M Katz, Roberto F Galán, Thomas E Dic. Decreased Hering-Breuer input-output entrainment in a mouse model of Rett syndrome. Frontiers in neural circuits. vol 7. 2014-05-19. PMID:23565077. rett syndrome, a severe x-linked neurodevelopmental disorder caused by mutations in the gene encoding methyl-cpg-binding protein 2 (mecp2), is associated with a highly irregular respiratory pattern including severe upper-airway dysfunction. 2014-05-19 2023-08-12 mouse
Jae-Sung Woo, V Narry Ki. MeCP2 caught moonlighting as a suppressor of MicroRNA processing. Developmental cell. vol 28. issue 5. 2014-05-16. PMID:24636253. mecp2 is a transcriptional regulator important for neurodevelopment and is involved in rett syndrome and autism. 2014-05-16 2023-08-12 Not clear
Tian-Lin Cheng, Zhizhi Wang, Qiuming Liao, Ying Zhu, Wen-Hao Zhou, Wenqing Xu, Zilong Qi. MeCP2 suppresses nuclear microRNA processing and dendritic growth by regulating the DGCR8/Drosha complex. Developmental cell. vol 28. issue 5. 2014-05-16. PMID:24636259. loss- and gain-of-function mutations of the x-linked gene mecp2 (methyl-cpg binding protein 2) lead to severe neurodevelopmental disorders in humans, such as rett syndrome (rtt) and autism. 2014-05-16 2023-08-12 Not clear
Ju Cheng, Min Huang, Ying Zhu, Yong-Juan Xin, Yun-Ke Zhao, Jian Huang, Jian-Xiu Yu, Wen-Hao Zhou, Zilong Qi. SUMOylation of MeCP2 is essential for transcriptional repression and hippocampal synapse development. Journal of neurochemistry. vol 128. issue 6. 2014-05-14. PMID:24188180. mutations of human mecp2 gene lead to rett syndrome, a severe neural developmental disorder. 2014-05-14 2023-08-12 human
Daniela Damen, Rolf Heuman. MeCP2 phosphorylation in the brain: from transcription to behavior. Biological chemistry. vol 394. issue 12. 2014-05-09. PMID:23912219. especially, its involvement in the x-linked neurologic disorder rett syndrome emphasizes the importance of mecp2 for normal development and maturation of the central nervous system. 2014-05-09 2023-08-12 Not clear
Daniela Damen, Rolf Heuman. MeCP2 phosphorylation in the brain: from transcription to behavior. Biological chemistry. vol 394. issue 12. 2014-05-09. PMID:23912219. a number of animal models with complete or partial lack of mecp2 functions have been generated to correlate the clinical phenotype of rett syndrome, and studies involving different mutations of mecp2 have shown similar effects. 2014-05-09 2023-08-12 Not clear
I-Ting J Wang, Arith-Ruth S Reyes, Zhaolan Zho. Neuronal morphology in MeCP2 mouse models is intrinsically variable and depends on age, cell type, and Mecp2 mutation. Neurobiology of disease. vol 58. 2014-04-23. PMID:23659895. rett syndrome (rtt), a progressive neurological disorder characterized by developmental regression and loss of motor and language skills, is caused by mutations in the x-linked gene encoding methyl-cpg binding protein 2 (mecp2). 2014-04-23 2023-08-12 mouse
Seok K Kang, Shin Tae Kim, Michael V Johnston, Shilpa D Kada. Temporal- and Location-Specific Alterations of the GABA Recycling System in Mecp2 KO Mouse Brains. Journal of central nervous system disease. vol 6. 2014-04-16. PMID:24737935. rett syndrome (rtt), associated with mutations in methyl-cpg-binding protein 2 (mecp2), is linked to diverse neurological symptoms such as seizures, motor disabilities, and cognitive impairments. 2014-04-16 2023-08-13 mouse
Sinisa Colic, Robert G Wither, Liang Zhang, James H Eubanks, Berj L Bardakjia. Characterization of seizure-like events recorded in vivo in a mouse model of Rett syndrome. Neural networks : the official journal of the International Neural Network Society. vol 46. 2014-04-10. PMID:23727441. rett syndrome is a neurodevelopmental disorder caused by mutations in the x-linked gene encoding methyl-cpg-binding protein 2 (mecp2). 2014-04-10 2023-08-12 mouse
Hiart Maortua, Cristina Martínez-Bouzas, Ainhoa García-Ribes, María-Jesus Martínez, Encarna Guillen, María-Rosario Domingo, María-Teresa Calvo, Miriam Guitart, Elisabeth Gabau, María-Pilar Botella, Blanca Gener, Izaskun Rubio, María-Asunción López-Aríztegui, María-Isabel Tejad. MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males). The Journal of molecular diagnostics : JMD. vol 15. issue 5. 2014-04-08. PMID:23810759. mecp2 was thoroughly tested for the presence of mutations (sequencing of four exons and rearrangements) in 120 female patients: 28 with classic rett syndrome, five with atypical rett syndrome, and 87 with heterogeneous phenotypes with some rett-like features. 2014-04-08 2023-08-12 Not clear