| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| J M Bissonnette, L R Schaevitz, S J Knopp, Z Zho. Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X. Neuroscience. vol 267. 2014-12-09. PMID:24626160. |
respiratory phenotypes are distinctly affected in mice with common rett syndrome mutations mecp2 t158a and r168x. |
2014-12-09 |
2023-08-12 |
mouse |
| J M Bissonnette, L R Schaevitz, S J Knopp, Z Zho. Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X. Neuroscience. vol 267. 2014-12-09. PMID:24626160. |
respiratory disturbances are a primary phenotype of the neurological disorder, rett syndrome (rtt), caused by mutations in the x-linked gene encoding methyl-cpg-binding protein 2 (mecp2). |
2014-12-09 |
2023-08-12 |
mouse |
| Lu-Yao Ma, Chen Wu, Yu Jin, Ming Gao, Guo-Hui Li, Dharshaun Turner, Jian-Xin Shen, Shi-Jiang Zhang, Vinodh Narayanan, Garilyn Jentarra, Jie W. Electrophysiological phenotypes of MeCP2 A140V mutant mouse model. CNS neuroscience & therapeutics. vol 20. issue 5. 2014-12-08. PMID:24750778. |
mecp2 gene mutations are associated with rett syndrome and x-linked mental retardation (xlmr), diseases characterized by abnormal brain development and function. |
2014-12-08 |
2023-08-13 |
mouse |
| Lu-Yao Ma, Chen Wu, Yu Jin, Ming Gao, Guo-Hui Li, Dharshaun Turner, Jian-Xin Shen, Shi-Jiang Zhang, Vinodh Narayanan, Garilyn Jentarra, Jie W. Electrophysiological phenotypes of MeCP2 A140V mutant mouse model. CNS neuroscience & therapeutics. vol 20. issue 5. 2014-12-08. PMID:24750778. |
recently, we created a novel mecp2 a140v mutation mouse model that exhibited abnormalities of cell packing density and dendritic branching consistent with that seen in rett syndrome patients as well as other mecp2 mutant mouse models. |
2014-12-08 |
2023-08-13 |
mouse |
| Giulio Srubek Tomassy, Noemi Morello, Eleonora Calcagno, Maurizio Giustett. Developmental abnormalities of cortical interneurons precede symptoms onset in a mouse model of Rett syndrome. Journal of neurochemistry. vol 131. issue 1. 2014-11-21. PMID:24978323. |
rett syndrome (rtt, mim312750), a neurodevelopmental disorder predominantly occurring in females, is caused in the majority of cases by sporadic mutations in the gene encoding the transcriptional modulator methyl-cpg-binding protein 2 (mecp2). |
2014-11-21 |
2023-08-13 |
mouse |
| Bernhard Suter, Diane Treadwell-Deering, Huda Y Zoghbi, Daniel G Glaze, Jeffrey L Neu. Brief report: MECP2 mutations in people without Rett syndrome. Journal of autism and developmental disorders. vol 44. issue 3. 2014-11-18. PMID:23921973. |
brief report: mecp2 mutations in people without rett syndrome. |
2014-11-18 |
2023-08-12 |
Not clear |
| Bernhard Suter, Diane Treadwell-Deering, Huda Y Zoghbi, Daniel G Glaze, Jeffrey L Neu. Brief report: MECP2 mutations in people without Rett syndrome. Journal of autism and developmental disorders. vol 44. issue 3. 2014-11-18. PMID:23921973. |
mutations in methyl-cpg-binding protein 2 (mecp2) are commonly associated with the neurodevelopmental disorder rett syndrome (rtt). |
2014-11-18 |
2023-08-12 |
Not clear |
| David L Hess-Homeier, Chia-Yu Fan, Tarun Gupta, Ann-Shyn Chiang, Sarah J Certe. Astrocyte-specific regulation of hMeCP2 expression in Drosophila. Biology open. vol 3. issue 11. 2014-11-16. PMID:25305037. |
alterations in the expression of methyl-cpg-binding protein 2 (mecp2) either by mutations or gene duplication leads to a wide spectrum of neurodevelopmental disorders including rett syndrome and mecp2 duplication disorder. |
2014-11-16 |
2023-08-13 |
human |
| David L Hess-Homeier, Chia-Yu Fan, Tarun Gupta, Ann-Shyn Chiang, Sarah J Certe. Astrocyte-specific regulation of hMeCP2 expression in Drosophila. Biology open. vol 3. issue 11. 2014-11-16. PMID:25305037. |
common features of rett syndrome (rtt), mecp2 duplication disorder, and neuropsychiatric disorders indicate that even moderate changes in mecp2 protein levels result in functional and structural cell abnormalities. |
2014-11-16 |
2023-08-13 |
human |
| Ken Sugino, Chris M Hempel, Benjamin W Okaty, Hannah A Arnson, Saori Kato, Vardhan S Dani, Sacha B Nelso. Cell-type-specific repression by methyl-CpG-binding protein 2 is biased toward long genes. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 34. issue 38. 2014-11-11. PMID:25232122. |
mutations in methyl-cpg-binding protein 2 (mecp2) cause rett syndrome and related autism spectrum disorders (amir et al., 1999). |
2014-11-11 |
2023-08-13 |
mouse |
| Ken Sugino, Chris M Hempel, Benjamin W Okaty, Hannah A Arnson, Saori Kato, Vardhan S Dani, Sacha B Nelso. Cell-type-specific repression by methyl-CpG-binding protein 2 is biased toward long genes. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 34. issue 38. 2014-11-11. PMID:25232122. |
because genes involved in neuronal connectivity and communication, such as cell adhesion and cell-cell signaling genes, are enriched among longer genes, their misregulation following loss of mecp2 suggests a possible etiology for altered circuit function in rett syndrome. |
2014-11-11 |
2023-08-13 |
mouse |
| Max F Oginsky, Ningren Cui, Weiwei Zhong, Christopher M Johnson, Chun Jian. Alterations in the cholinergic system of brain stem neurons in a mouse model of Rett syndrome. American journal of physiology. Cell physiology. vol 307. issue 6. 2014-11-06. PMID:25009110. |
rett syndrome is an autism-spectrum disorder resulting from mutations to the x-linked gene, methyl-cpg binding protein 2 (mecp2), which causes abnormalities in many systems. |
2014-11-06 |
2023-08-13 |
mouse |
| Carl O Olson, Robby M Zachariah, Chinelo D Ezeonwuka, Vichithra R B Liyanage, Mojgan Rastega. Brain region-specific expression of MeCP2 isoforms correlates with DNA methylation within Mecp2 regulatory elements. PloS one. vol 9. issue 3. 2014-11-04. PMID:24594659. |
mecp2 is a critical epigenetic regulator in brain and its abnormal expression or compromised function leads to a spectrum of neurological disorders including rett syndrome and autism. |
2014-11-04 |
2023-08-12 |
mouse |
| Vishnu Anand Cuddapah, Rajesh B Pillai, Kiran V Shekar, Jane B Lane, Kathleen J Motil, Steven A Skinner, Daniel Charles Tarquinio, Daniel G Glaze, Gerald McGwin, Walter E Kaufmann, Alan K Percy, Jeffrey L Neul, Michelle L Olse. Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. Journal of medical genetics. vol 51. issue 3. 2014-11-03. PMID:24399845. |
methyl-cpg-binding protein 2 (mecp2) mutation type is associated with disease severity in rett syndrome. |
2014-11-03 |
2023-08-12 |
Not clear |
| Hailiang Liu, Yongchang Chen, Yuyu Niu, Kunshan Zhang, Yu Kang, Weihong Ge, Xiaojing Liu, Enfeng Zhao, Chencheng Wang, Shaoyun Lin, Bo Jing, Chenyang Si, Quan Lin, Xiaoying Chen, Haijun Lin, Xiuqiong Pu, Yingying Wang, Binlian Qin, Fang Wang, Hong Wang, Wei Si, Jing Zhou, Tao Tan, Tianqing Li, Shaohui Ji, Zhigang Xue, Yuping Luo, Liming Cheng, Qi Zhou, Siguang Li, Yi Eve Sun, Weizhi J. TALEN-mediated gene mutagenesis in rhesus and cynomolgus monkeys. Cell stem cell. vol 14. issue 3. 2014-10-29. PMID:24529597. |
here we report successful talen-mediated mutagenesis of an x-linked, rett syndrome (rtt) gene, methyl-cpg binding protein 2 (mecp2), in both rhesus and cynomolgus monkeys. |
2014-10-29 |
2023-08-12 |
human |
| Lisa V Kalman, Jack C Tarleton, Alan K Percy, Swaroop Aradhya, Sherri Bale, Shannon D Barker, Pinar Bayrak-Toydemir, Christina Bridges, Arlene M Buller-Burckle, Soma Das, Ramaswamy K Iyer, Timothy D Vo, Val V Zvereff, Lorraine H Toj. Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing. The Journal of molecular diagnostics : JMD. vol 16. issue 2. 2014-10-28. PMID:24508304. |
rett syndrome is a dominant x-linked disorder caused by point mutations (approximately 80%) or by deletions or insertions (approximately 15% to 18%) in the mecp2 gene. |
2014-10-28 |
2023-08-12 |
Not clear |
| Lisa V Kalman, Jack C Tarleton, Alan K Percy, Swaroop Aradhya, Sherri Bale, Shannon D Barker, Pinar Bayrak-Toydemir, Christina Bridges, Arlene M Buller-Burckle, Soma Das, Ramaswamy K Iyer, Timothy D Vo, Val V Zvereff, Lorraine H Toj. Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing. The Journal of molecular diagnostics : JMD. vol 16. issue 2. 2014-10-28. PMID:24508304. |
the eight common point mutations known to cause approximately 60% of rett syndrome cases were identified, as were other mecp2 variants, including deletions, duplications, and frame shift and splice-site mutations. |
2014-10-28 |
2023-08-12 |
Not clear |
| Shan Jiang, Chaoran Li, Gabrielle McRae, Erik Lykken, Jose Sevilla, Si-Qi Liu, Ying Wan, Qi-Jing L. MeCP2 reinforces STAT3 signaling and the generation of effector CD4+ T cells by promoting miR-124-mediated suppression of SOCS5. Science signaling. vol 7. issue 316. 2014-10-27. PMID:24619648. |
methyl cpg binding protein 2 (mecp2) is an x-linked, multifunctional epigenetic regulator that is best known for its role in the neurological disorder rett syndrome; however, it is also linked to multiple autoimmune disorders. |
2014-10-27 |
2023-08-12 |
Not clear |
| Alessio Cortelazzo, Claudio De Felice, Roberto Guerranti, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Gloria Zollo, Claudia Landi, Giuseppe Valacchi, Lucia Ciccoli, Luca Bini, Joussef Haye. Subclinical inflammatory status in Rett syndrome. Mediators of inflammation. vol 2014. 2014-10-16. PMID:24511209. |
rett syndrome (rtt) is a devastating neurodevelopmental disorder, mainly caused by de novo loss-of-function mutations in the gene encoding mecp2. |
2014-10-16 |
2023-08-12 |
Not clear |
| Claudio De Felice, Alessio Cortelazzo, Cinzia Signorini, Roberto Guerranti, Silvia Leoncini, Alessandra Pecorelli, Thierry Durand, Jean-Marie Galano, Camille Oger, Gloria Zollo, Barbara Montomoli, Claudia Landi, Luca Bini, Giuseppe Valacchi, Lucia Ciccoli, Joussef Haye. Effects of ω-3 polyunsaturated fatty acids on plasma proteome in Rett syndrome. Mediators of inflammation. vol 2013. 2014-10-14. PMID:24385686. |
prior reports suggest a partial rescue of clinical symptoms and oxidative stress (os) alterations following ω -3 pufas supplementation in patients with rett syndrome (rtt), a devastating neurodevelopmental disorder with transient autistic features, affecting almost exclusively females and mainly caused by sporadic mutations in the gene encoding the methyl cpg binding protein 2 (mecp2) protein. |
2014-10-14 |
2023-08-12 |
Not clear |