All Relations between Rett Syndrome and mecp2

Publication Sentence Publish Date Extraction Date Species
Bianca De Filippis, Daniela Valenti, Lidia de Bari, Domenico De Rasmo, Mattia Musto, Alessia Fabbri, Laura Ricceri, Carla Fiorentini, Giovanni Laviola, Rosa Anna Vacc. Mitochondrial free radical overproduction due to respiratory chain impairment in the brain of a mouse model of Rett syndrome: protective effect of CNF1. Free radical biology & medicine. vol 83. 2016-03-14. PMID:25708779. rett syndrome (rtt) is a pervasive neurodevelopmental disorder mainly caused by mutations in the x-linked mecp2 gene associated with severe intellectual disability, movement disorders, and autistic-like behaviors. 2016-03-14 2023-08-13 mouse
O Güngör, S Kirik, D Cevizli, F Karaokur, L Ozer, S Uysal, C Dilbe. A RETT SYNDROME CASE WITH NOVEL NON-IDENTICAL MUTATION IN MECP2 GENE. Genetic counseling (Geneva, Switzerland). vol 26. issue 4. 2016-03-03. PMID:26852508. a rett syndrome case with novel non-identical mutation in mecp2 gene. 2016-03-03 2023-08-13 Not clear
J Gordon Millicha. Visual Evoked Potentials in Rett Syndrome. Pediatric neurology briefs. vol 29. issue 10. 2016-03-02. PMID:26933538. investigators from the boston children's hospital recorded pattern-reversal visual evoked potentials (veps) in mecp2 heterozygous female mice and in 34 girls with rett syndrome (rtt). 2016-03-02 2023-08-13 mouse
Aya Ito-Ishida, Kerstin Ure, Hongmei Chen, John W Swann, Huda Y Zoghb. Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes. Neuron. vol 88. issue 4. 2016-03-01. PMID:26590342. we deleted mecp2, the mouse homolog of the gene that causes rett syndrome, from the two most populous subtypes, parvalbumin-positive (pv+) and somatostatin-positive (som+) neurons. 2016-03-01 2023-08-13 mouse
Mary E Blue, Adele L Boskey, Stephen B Doty, Neal S Fedarko, Mir Ahamed Hossain, Jay R Shapir. Osteoblast function and bone histomorphometry in a murine model of Rett syndrome. Bone. vol 76. 2016-02-26. PMID:25769649. rett syndrome (rtt) is an x-linked neurodevelopmental disorder due to mutations affecting the neural transcription factor mecp2. 2016-02-26 2023-08-13 mouse
Michael Johnston, Mary E Blue, Sakkubai Naid. Recent advances in understanding synaptic abnormalities in Rett syndrome. F1000Research. vol 4. 2016-02-26. PMID:26918155. rett syndrome is an extremely disabling x-linked nervous system disorder that mainly affects girls in early childhood and causes autism-like behavior, severe intellectual disability, seizures, sleep disturbances, autonomic instability, and other disorders due to mutations in the mecp2 (methyl cpg-binding protein 2) transcription factor. 2016-02-26 2023-08-13 Not clear
Zhen Liu, Xiao Li, Jun-Tao Zhang, Yi-Jun Cai, Tian-Lin Cheng, Cheng Cheng, Yan Wang, Chen-Chen Zhang, Yan-Hong Nie, Zhi-Fang Chen, Wen-Jie Bian, Ling Zhang, Jianqiu Xiao, Bin Lu, Yue-Fang Zhang, Xiao-Di Zhang, Xiao Sang, Jia-Jia Wu, Xiu Xu, Zhi-Qi Xiong, Feng Zhang, Xiang Yu, Neng Gong, Wen-Hao Zhou, Qiang Sun, Zilong Qi. Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2. Nature. vol 530. issue 7588. 2016-02-25. PMID:26808898. mutations in the mecp2 gene are found in 90% of patients with rett syndrome, a severe developmental disorder with autistic phenotypes. 2016-02-25 2023-08-13 mouse
Zhen Liu, Xiao Li, Jun-Tao Zhang, Yi-Jun Cai, Tian-Lin Cheng, Cheng Cheng, Yan Wang, Chen-Chen Zhang, Yan-Hong Nie, Zhi-Fang Chen, Wen-Jie Bian, Ling Zhang, Jianqiu Xiao, Bin Lu, Yue-Fang Zhang, Xiao-Di Zhang, Xiao Sang, Jia-Jia Wu, Xiu Xu, Zhi-Qi Xiong, Feng Zhang, Xiang Yu, Neng Gong, Wen-Hao Zhou, Qiang Sun, Zilong Qi. Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2. Nature. vol 530. issue 7588. 2016-02-25. PMID:26808898. although mecp2-null mice recapitulate most developmental and behavioural defects seen in patients with rett syndrome, it has been difficult to identify autism-like behaviours in the mouse model of mecp2 overexpression. 2016-02-25 2023-08-13 mouse
Ran Zhang, Min Huang, Zhijuan Cao, Jieyu Qi, Zilong Qiu, Li-Yang Chian. MeCP2 plays an analgesic role in pain transmission through regulating CREB / miR-132 pathway. Molecular pain. vol 11. 2016-02-22. PMID:25885346. mutations and duplications of the human mecp2 gene lead to severe neurodevelopmental disorders, such as rett syndrome and autism. 2016-02-22 2023-08-13 human
Shih-Jen Tsa. Is riluzole a potential therapy for Rett syndrome? Medical hypotheses. vol 85. issue 1. 2016-02-16. PMID:25858436. rett syndrome (rtt) is a severe neurodevelopmental disorder with autistic features and is caused by loss-of-function mutations in the gene encoding methyl-cpg-binding protein 2 (mecp2) in the majority of cases. 2016-02-16 2023-08-13 mouse
Jocelyn J LeBlanc, Geneva DeGregorio, Eleonora Centofante, Vanessa K Vogel-Farley, Katherine Barnes, Walter E Kaufmann, Michela Fagiolini, Charles A Nelso. Visual evoked potentials detect cortical processing deficits in Rett syndrome. Annals of neurology. vol 78. issue 5. 2016-02-01. PMID:26332183. rett syndrome (rtt) is a neurodevelopmental disorder caused by mutation of the x-linked mecp2 gene and characterized by developmental regression during the first few years of life. 2016-02-01 2023-08-13 Not clear
Carla Caffarelli, Jussef Hayek, Ranuccio Nuti, Stefano Gonnell. Teriparatide in the treatment of recurrent fractures in a Rett patient. Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases. vol 12. issue 3. 2016-01-26. PMID:26811706. rett syndrome is a common x-linked neurodevelopmental disorder caused by mutations in the mecp2 gene. 2016-01-26 2023-08-13 human
Tugba G Kucukkal, Ye Yang, Olga Uvarov, Weiguo Cao, Emil Alexo. Impact of Rett Syndrome Mutations on MeCP2 MBD Stability. Biochemistry. vol 54. issue 41. 2016-01-25. PMID:26418480. impact of rett syndrome mutations on mecp2 mbd stability. 2016-01-25 2023-08-13 human
Tugba G Kucukkal, Ye Yang, Olga Uvarov, Weiguo Cao, Emil Alexo. Impact of Rett Syndrome Mutations on MeCP2 MBD Stability. Biochemistry. vol 54. issue 41. 2016-01-25. PMID:26418480. rett syndrome causing missense mutations in the methyl-cpg-binding domain (mbd) of methyl cpg-binding protein 2 (mecp2) were investigated both in silico and in vitro to reveal their effect on protein stability. 2016-01-25 2023-08-13 human
Tomoko Andoh-Noda, Wado Akamatsu, Kunio Miyake, Takuya Matsumoto, Ryo Yamaguchi, Tsukasa Sanosaka, Yohei Okada, Tetsuro Kobayashi, Manabu Ohyama, Kinichi Nakashima, Hiroshi Kurosawa, Takeo Kubota, Hideyuki Okan. Differentiation of multipotent neural stem cells derived from Rett syndrome patients is biased toward the astrocytic lineage. Molecular brain. vol 8. 2016-01-19. PMID:26012557. rett syndrome (rtt) is one of the most prevalent neurodevelopmental disorders in females, caused by de novo mutations in the x-linked methyl cpg-binding protein 2 gene, mecp2. 2016-01-19 2023-08-13 Not clear
b' Alexia Mart\\xc3\\xadnez de Paz, Jose Vicente Sanchez-Mut, Mireia Samitier-Mart\\xc3\\xad, Paolo Petazzi, Mauricio S\\xc3\\xa1ez, Karolina Szczesna, Dori Huertas, Manel Esteller, Juan Ausi\\xc3\\xb. Circadian cycle-dependent MeCP2 and brain chromatin changes. PloS one. vol 10. issue 4. 2016-01-13. PMID:25875630.' furthermore, this data suggests that alterations of mecp2 can be responsible for the sleeping disorders arising from pathological stages, such as in autism and rett syndrome. 2016-01-13 2023-08-13 mouse
Yehezkel Sztainberg, Hong-mei Chen, John W Swann, Shuang Hao, Bin Tang, Zhenyu Wu, Jianrong Tang, Ying-Wooi Wan, Zhandong Liu, Frank Rigo, Huda Y Zoghb. Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides. Nature. vol 528. issue 7580. 2016-01-10. PMID:26605526. reversal of phenotypes in adult symptomatic mice has been demonstrated in some models of monogenic loss-of-function neurological disorders, including loss of mecp2 in rett syndrome, indicating that, at least in some cases, the neuroanatomy may remain sufficiently intact so that correction of the molecular dysfunction underlying these disorders can restore healthy physiology. 2016-01-10 2023-08-13 mouse
Wan Y Leong, Zhi H Lim, Vladimir Korzh, Thomas Pietri, Eyleen L K Go. Methyl-CpG Binding Protein 2 (Mecp2) Regulates Sensory Function Through Sema5b and Robo2. Frontiers in cellular neuroscience. vol 9. 2016-01-06. PMID:26733807. mutations in the gene encoding the mecp2 underlies rett syndrome, a neurodevelopmental disorder in young females. 2016-01-06 2023-08-13 mouse
Wan Y Leong, Zhi H Lim, Vladimir Korzh, Thomas Pietri, Eyleen L K Go. Methyl-CpG Binding Protein 2 (Mecp2) Regulates Sensory Function Through Sema5b and Robo2. Frontiers in cellular neuroscience. vol 9. 2016-01-06. PMID:26733807. although reduced pain sensitivity in rett syndrome patients and in partial mecp2 deficient mice had been reported, these previous studies focused predominantly on motor impairments. 2016-01-06 2023-08-13 mouse
Wan Y Leong, Zhi H Lim, Vladimir Korzh, Thomas Pietri, Eyleen L K Go. Methyl-CpG Binding Protein 2 (Mecp2) Regulates Sensory Function Through Sema5b and Robo2. Frontiers in cellular neuroscience. vol 9. 2016-01-06. PMID:26733807. in addition, the human disease manifestations where males with mutations in mecp2 gene normally do not survive and females show typical neurological symptoms only after 18 months of age, is profoundly different in mecp2-deficient mouse where all animals survived, and males but not females displayed rett syndrome phenotypes at an early age. 2016-01-06 2023-08-13 mouse