All Relations between Rett Syndrome and mecp2

Publication Sentence Publish Date Extraction Date Species
Jacky Guy, Beatrice Alexander-Howden, Laura FitzPatrick, Dina DeSousa, Martha V Koerner, Jim Selfridge, Adrian Bir. A mutation-led search for novel functional domains in MeCP2. Human molecular genetics. vol 27. issue 14. 2019-03-12. PMID:29718204. most missense mutations causing rett syndrome (rtt) affect domains of mecp2 that have been shown to either bind methylated dna or interact with a transcriptional co-repressor complex. 2019-03-12 2023-08-13 mouse
Yang Wu, Ningren Cui, Hao Xing, Weiwei Zhong, Colin Arrowood, Christopher M Johnson, Chun Jian. Mecp2 Disruption in Rats Causes Reshaping in Firing Activity and Patterns of Brainstem Respiratory Neurons. Neuroscience. vol 397. 2019-03-07. PMID:30458221. people with rett syndrome (rtt), a neurodevelopmental disorder caused by mutations in the mecp2 gene, have breathing abnormalities manifested as periodical hypoventilation with compensatory hyperventilation, which are attributable to a high incidence of sudden death. 2019-03-07 2023-08-13 rat
Kedarlal Sharma, Juhi Singh, Emma E Frost, Prakash P Pilla. MeCP2 overexpression inhibits proliferation, migration and invasion of C6 glioma by modulating ERK signaling and gene expression. Neuroscience letters. vol 674. 2019-02-25. PMID:29540297. mecp2 mutations are associated with a spectrum of neuro-developmental disorders that vary depending on the patient gender, most notably rett syndrome. 2019-02-25 2023-08-13 Not clear
Friederike Ehrhart, Nasim B Sangani, Leopold M G Curf. Current developments in the genetics of Rett and Rett-like syndrome. Current opinion in psychiatry. vol 31. issue 2. 2019-02-15. PMID:29206688. this article reviews the current molecular genetic studies, which investigate the genetic causes of rett syndrome or rett-like phenotypes without a mecp2 mutation. 2019-02-15 2023-08-13 Not clear
Zilong Qi. Deciphering MECP2-associated disorders: disrupted circuits and the hope for repair. Current opinion in neurobiology. vol 48. 2019-02-11. PMID:28961504. mecp2 is a critical gene for neural development, mutations or duplication of which led to severe neurodevelopmental disorders, such as rett syndrome (rtt) and autism spectrum disorders (asd). 2019-02-11 2023-08-13 mouse
Nicola Alessio, Francesco Riccitiello, Tiziana Squillaro, Stefania Capasso, Stefania Del Gaudio, Giovanni Di Bernardo, Marilena Cipollaro, Mariarosa A B Melone, Gianfranco Peluso, Umberto Galderis. Neural stem cells from a mouse model of Rett syndrome are prone to senescence, show reduced capacity to cope with genotoxic stress, and are impaired in the differentiation process. Experimental & molecular medicine. vol 50. issue 3. 2019-02-04. PMID:29563495. researchers are particularly interested in this protein, as up to 90% of rett syndrome patients have an mecp2 gene mutation. 2019-02-04 2023-08-13 mouse
Nicola Alessio, Francesco Riccitiello, Tiziana Squillaro, Stefania Capasso, Stefania Del Gaudio, Giovanni Di Bernardo, Marilena Cipollaro, Mariarosa A B Melone, Gianfranco Peluso, Umberto Galderis. Neural stem cells from a mouse model of Rett syndrome are prone to senescence, show reduced capacity to cope with genotoxic stress, and are impaired in the differentiation process. Experimental & molecular medicine. vol 50. issue 3. 2019-02-04. PMID:29563495. we used a mouse model of rett syndrome to evaluate whether residual mecp2 activity in neural stem cells (nscs) induced the senescence phenomena that could affect stem cell function. 2019-02-04 2023-08-13 mouse
Robert G Wither, Sinisa Colic, Berj L Bardakjian, O Carter Snead, Liang Zhang, James H Eubank. Electrographic and pharmacological characterization of a progressive epilepsy phenotype in female MeCP2-deficient mice. Epilepsy research. vol 140. 2019-01-17. PMID:29414525. rett syndrome is a neurodevelopmental disorder caused primarily by mutations in the gene encoding methyl-cpg-binding protein 2 (mecp2). 2019-01-17 2023-08-13 mouse
Pınar Zengin-Akkuş, Ekim Z Taşkıran, Serkan Kabaçam, Pelin Özlem Şimşek-Kiper, Göknur Haliloğlu, Koray Boduroğlu, Gülen Eda Utin. Clinical and molecular evaluation of 16 patients with Rett syndrome. The Turkish journal of pediatrics. vol 60. issue 1. 2019-01-16. PMID:30102473. rett syndrome is a neurodevelopmental disorder caused by mutations in mecp2. 2019-01-16 2023-08-13 Not clear
Uri Kahanovitch, Vishnu A Cuddapah, Natasha L Pacheco, Leanne M Holt, Daniel K Mulkey, Alan K Percy, Michelle L Olse. MeCP2 Deficiency Leads to Loss of Glial Kir4.1. eNeuro. vol 5. issue 1. 2019-01-09. PMID:29464197. rett syndrome (rtt) is an x-linked neurodevelopmental disorder usually caused by mutations in methyl-cpg-binding protein 2 (mecp2). 2019-01-09 2023-08-13 Not clear
Jing Liu, Lili Tong, Shuangshuang Song, Yue Niu, Jun Li, Xiu Wu, Jie Zhang, Clement C Zai, Fang Luo, Jian Wu, Haiyin Li, Albert H C Wong, Ruopeng Sun, Fang Liu, Baomin L. Novel and de novo mutations in pediatric refractory epilepsy. Molecular brain. vol 11. issue 1. 2019-01-07. PMID:30185235. one de novo mecp2 mutation were found in a rett syndrome patient. 2019-01-07 2023-08-13 Not clear
C James Howell, Michael P Sceniak, Min Lang, Wenceslas Krakowiecki, Fatimah E Abouelsoud, Saloni U Lad, Heping Yu, David M Kat. Activation of the Medial Prefrontal Cortex Reverses Cognitive and Respiratory Symptoms in a Mouse Model of Rett Syndrome. eNeuro. vol 4. issue 6. 2018-12-11. PMID:29333487. rett syndrome (rtt) is a severe neurodevelopmental disorder caused by loss-of-function mutations in the gene encoding methyl-cpg-binding protein 2 (mecp2; amir et al., 1999), a transcriptional regulatory protein (klose et al., 2005). 2018-12-11 2023-08-13 mouse
Patricia M Horvath, Lisa M Monteggi. MeCP2 as an Activator of Gene Expression. Trends in neurosciences. vol 41. issue 2. 2018-12-11. PMID:29405930. rett syndrome is a neurodevelopmental disorder that primarily affects females and is caused by mutations in the methyl-cpg-binding-protein 2 (mecp2) gene. 2018-12-11 2023-08-13 Not clear
Hiroo Tani, Nobutsune Ishikawa, Yoshiyuki Kobayashi, Shohei Yamaoka, Yuji Fujii, Kimihiko Kaneko, Toshiyuki Takahashi, Masao Kobayash. Anti-MOG antibody encephalitis mimicking neurological deterioration in a case of Rett syndrome with MECP2 mutation. Brain & development. vol 40. issue 10. 2018-11-06. PMID:30227938. anti-mog antibody encephalitis mimicking neurological deterioration in a case of rett syndrome with mecp2 mutation. 2018-11-06 2023-08-13 Not clear
Hiroo Tani, Nobutsune Ishikawa, Yoshiyuki Kobayashi, Shohei Yamaoka, Yuji Fujii, Kimihiko Kaneko, Toshiyuki Takahashi, Masao Kobayash. Anti-MOG antibody encephalitis mimicking neurological deterioration in a case of Rett syndrome with MECP2 mutation. Brain & development. vol 40. issue 10. 2018-11-06. PMID:30227938. rett syndrome (rtt) is a neurodevelopmental disorder primarily caused by mutations in the methyl-cpg-binding protein 2 (mecp2) gene, resulting in developmental regression after normal development during infancy. 2018-11-06 2023-08-13 Not clear
Tsutomu Shioda, Satoru Takahashi, Tadashi Kaname, Toyohiro Yamauchi, Tetsuya Fukuok. MECP2 mutation in a boy with severe apnea and sick sinus syndrome. Brain & development. vol 40. issue 8. 2018-10-30. PMID:29631775. rett syndrome is a neurodevelopmental disorder caused by mutations in the mecp2 gene, which encodes methyl-cpg-binding protein 2 (mecp2). 2018-10-30 2023-08-13 Not clear
Rafael Claveria-Gimeno, Pilar M Lanuza, Ignacio Morales-Chueca, Olga C Jorge-Torres, Sonia Vega, Olga Abian, Manel Esteller, Adrian Velazquez-Campo. The intervening domain from MeCP2 enhances the DNA affinity of the methyl binding domain and provides an independent DNA interaction site. Scientific reports. vol 7. 2018-10-29. PMID:28139759. mutations in mecp2 are linked to rett syndrome, the leading cause of intellectual retardation in girls and causing mental, motor and growth impairment. 2018-10-29 2023-08-13 Not clear
Tian-Lin Cheng, Jingqi Chen, Huida Wan, Bin Tang, Weidong Tian, Lujian Liao, Zilong Qi. Regulation of mRNA splicing by MeCP2 via epigenetic modifications in the brain. Scientific reports. vol 7. 2018-10-24. PMID:28211484. mutations of x-linked gene methyl cpg binding protein 2 (mecp2) are the major causes of rett syndrome (rtt), a severe neurodevelopmental disorder. 2018-10-24 2023-08-13 mouse
Daniel C Tarquinio, Wei Hou, Jeffrey L Neul, Gamze Kilic Berkmen, Jana Drummond, Elizabeth Aronoff, Jennifer Harris, Jane B Lane, Walter E Kaufmann, Kathleen J Motil, Daniel G Glaze, Steven A Skinner, Alan K Perc. The course of awake breathing disturbances across the lifespan in Rett syndrome. Brain & development. vol 40. issue 7. 2018-10-22. PMID:29657083. rett syndrome (rtt), an x-linked dominant neurodevelopmental disorder caused by mutations in mecp2, is associated with a peculiar breathing disturbance exclusively during wakefulness that is distressing, and can even prompt emergency resuscitation. 2018-10-22 2023-08-13 human
Sarah E Sinnett, Steven J Gra. Recent endeavors in MECP2 gene transfer for gene therapy of Rett syndrome. Discovery medicine. vol 24. issue 132. 2018-09-27. PMID:29272692. recent endeavors in mecp2 gene transfer for gene therapy of rett syndrome. 2018-09-27 2023-08-13 mouse