| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Aritra Bhattacherjee, Ying Mu, Michelle K Winter, Jennifer R Knapp, Linda S Eggimann, Sumedha S Gunewardena, Kazuto Kobayashi, Shigeki Kato, Dora Krizsan-Agbas, Peter G Smit. Neuronal cytoskeletal gene dysregulation and mechanical hypersensitivity in a rat model of Rett syndrome. Proceedings of the National Academy of Sciences of the United States of America. vol 114. issue 33. 2018-05-23. PMID:28760966. |
rats with methyl-cpg binding protein 2 (mecp2) mutation, characteristic of rett syndrome, show hypersensitivity to pressure and cold, but hyposensitivity to heat. |
2018-05-23 |
2023-08-13 |
rat |
| Aritra Bhattacherjee, Ying Mu, Michelle K Winter, Jennifer R Knapp, Linda S Eggimann, Sumedha S Gunewardena, Kazuto Kobayashi, Shigeki Kato, Dora Krizsan-Agbas, Peter G Smit. Neuronal cytoskeletal gene dysregulation and mechanical hypersensitivity in a rat model of Rett syndrome. Proceedings of the National Academy of Sciences of the United States of America. vol 114. issue 33. 2018-05-23. PMID:28760966. |
thus, mecp2 regulates ganglion neuronal genes controlling cytoskeletal dynamics, which in turn determines axon outgrowth and mechanosensory function and may contribute to altered pain sensitivity in rett syndrome. |
2018-05-23 |
2023-08-13 |
rat |
| Miaojing Xu, Pingping Song, Wei Huang, Rongni He, Yong He, Xiao Zhou, Yong Gu, Suyue Pan, Yafang H. Disruption of AT-hook 1 domain in MeCP2 protein caused behavioral abnormality in mice. Biochimica et biophysica acta. Molecular basis of disease. vol 1864. issue 2. 2018-05-22. PMID:29074463. |
mecp2 is the causative gene for autism spectrum disorders, including rett syndrome, a regressive neurodevelopmental rare disease mainly occurring in girls. |
2018-05-22 |
2023-08-13 |
mouse |
| Weiwei Zhong, Christopher Mychal Johnson, Ningren Cui, Hao Xing, Yang Wu, Chun Jian. Effects of chronic exposure to low dose THIP on brainstem neuronal excitability in mouse models of Rett syndrome: Evidence from symptomatic females. Neuropharmacology. vol 116. 2018-05-09. PMID:28069353. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations of the mecp2 gene, affecting predominantly females. |
2018-05-09 |
2023-08-13 |
mouse |
| Smitha Sripathy, Vid Leko, Robin L Adrianse, Taylor Loe, Eric J Foss, Emily Dalrymple, Uyen Lao, Tonibelle Gatbonton-Schwager, Kelly T Carter, Bernhard Payer, Patrick J Paddison, William M Grady, Jeannie T Lee, Marisa S Bartolomei, Antonio Bedalo. Screen for reactivation of MeCP2 on the inactive X chromosome identifies the BMP/TGF-β superfamily as a regulator of XIST expression. Proceedings of the National Academy of Sciences of the United States of America. vol 114. issue 7. 2018-05-09. PMID:28143937. |
rett syndrome (rs) is a debilitating neurological disorder affecting mostly girls with heterozygous mutations in the gene encoding the methyl-cpg-binding protein mecp2 on the x chromosome. |
2018-05-09 |
2023-08-13 |
mouse |
| Xin Xu, Lucas Pozzo-Mille. EEA1 restores homeostatic synaptic plasticity in hippocampal neurons from Rett syndrome mice. The Journal of physiology. vol 595. issue 16. 2018-05-09. PMID:28621434. |
rett syndrome is a neurodevelopmental disorder caused by loss-of-function mutations in mecp2, the gene encoding the transcriptional regulator methyl-cpg-binding protein 2 (mecp2). |
2018-05-09 |
2023-08-13 |
mouse |
| Keisuke Nozawa, Yanbin Lin, Ryota Kubodera, Yuki Shimizu, Hideomi Tanaka, Toshio Ohshim. Zebrafish Mecp2 is required for proper axonal elongation of motor neurons and synapse formation. Developmental neurobiology. vol 77. issue 9. 2018-04-30. PMID:28371371. |
however, the role of mecp2 in rett syndrome remains unclear. |
2018-04-30 |
2023-08-13 |
zebrafish |
| Abhishek Banerjee, Rajeev V Rikhye, Vincent Breton-Provencher, Xin Tang, Chenchen Li, Keji Li, Caroline A Runyan, Zhanyan Fu, Rudolf Jaenisch, Mriganka Su. Jointly reduced inhibition and excitation underlies circuit-wide changes in cortical processing in Rett syndrome. Proceedings of the National Academy of Sciences of the United States of America. vol 113. issue 46. 2018-04-27. PMID:27803317. |
rett syndrome (rtt) arises from loss-of-function mutations in methyl-cpg binding protein 2 gene (mecp2), but fundamental aspects of its physiological mechanisms are unresolved. |
2018-04-27 |
2023-08-13 |
mouse |
| Marwa Kharrat, Yosra Kamoun, Fatma Kamoun, Emna Ellouze, Marwa Maalej, Nourhene Fendri-Kriaa, Leila Ammar-Keskes, Neila Belghith, Ali Gargouri, Chahnez Triki, Faiza Fakhfak. Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome. Journal of child neurology. vol 32. issue 8. 2018-04-26. PMID:28399682. |
clinical, molecular, and computational analysis in patients with a novel double mutation and a new synonymous variant in mecp2: report of the first missense mutation within the at-hook1 cluster in rett syndrome. |
2018-04-26 |
2023-08-13 |
Not clear |
| Marwa Kharrat, Yosra Kamoun, Fatma Kamoun, Emna Ellouze, Marwa Maalej, Nourhene Fendri-Kriaa, Leila Ammar-Keskes, Neila Belghith, Ali Gargouri, Chahnez Triki, Faiza Fakhfak. Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome. Journal of child neurology. vol 32. issue 8. 2018-04-26. PMID:28399682. |
rett syndrome is an x-linked neurodevelopmental disorder, primarily caused by mecp2 mutations. |
2018-04-26 |
2023-08-13 |
Not clear |
| Zalak S Parikh, Ashutosh Tripathi, Prakash P Pilla. Differential Regulation of MeCP2 Phosphorylation by Laminin in Oligodendrocytes. Journal of molecular neuroscience : MN. vol 62. issue 3-4. 2018-04-23. PMID:28616777. |
methyl-cpg-binding protein 2 (mecp2) is a multifunctional methylated dna binding protein; mutation of which causes rett syndrome, a severe neurodevelopmental disorder. |
2018-04-23 |
2023-08-13 |
Not clear |
| Rylan Allemang-Grand, Jacob Ellegood, Leigh Spencer Noakes, Julie Ruston, Monica Justice, Brian J Nieman, Jason P Lerc. Neuroanatomy in mouse models of Rett syndrome is related to the severity of Mecp2 mutation and behavioral phenotypes. Molecular autism. vol 8. 2018-04-23. PMID:28670438. |
neuroanatomy in mouse models of rett syndrome is related to the severity of mecp2 mutation and behavioral phenotypes. |
2018-04-23 |
2023-08-13 |
mouse |
| Benyam Kinde, Dennis Y Wu, Michael E Greenberg, Harrison W Gabe. DNA methylation in the gene body influences MeCP2-mediated gene repression. Proceedings of the National Academy of Sciences of the United States of America. vol 113. issue 52. 2018-04-13. PMID:27965390. |
rett syndrome is a severe neurodevelopmental disorder caused by mutations in the methyl-cpg binding protein gene (mecp2). |
2018-04-13 |
2023-08-13 |
Not clear |
| Saki Hirofuji, Yuta Hirofuji, Hiroki Kato, Keiji Masuda, Haruyoshi Yamaza, Hiroshi Sato, Fumiko Takayama, Michiko Torio, Yasunari Sakai, Shouichi Ohga, Tomoaki Taguchi, Kazuaki Nonak. Mitochondrial dysfunction in dopaminergic neurons differentiated from exfoliated deciduous tooth-derived pulp stem cells of a child with Rett syndrome. Biochemical and biophysical research communications. vol 498. issue 4. 2018-04-13. PMID:29534967. |
patients with rett syndrome have loss-of-function mutations in mecp2, the gene encoding methyl-cpg-binding protein 2 (mecp2). |
2018-04-13 |
2023-08-13 |
human |
| Giuseppe Valacchi, Alessandra Pecorelli, Carlo Cervellati, Joussef Haye. 4-hydroxynonenal protein adducts: Key mediator in Rett syndrome oxinflammation. Free radical biology & medicine. vol 111. 2018-04-03. PMID:28063942. |
in the last 15 years a strong correlation between oxidative stress (oxs) and rett syndrome (rtt), a rare neurodevelopmental disorder known to be caused in 95% of the cases, by a mutation in the methyl-cpg-binding protein 2 (mecp2) gene, has been well documented. |
2018-04-03 |
2023-08-13 |
Not clear |
| M B Zanchetta, M F Scioscia, J R Zanchett. Bone microarchitecture in Rett syndrome and treatment with teriparatide: a case report. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA. vol 27. issue 9. 2018-03-29. PMID:27068223. |
rett syndrome (rtt), an x-linked progressive neuro-developmental disorder caused by mutations in the methyl-cpg-binding 2 (mecp2) gene, has been consistently associated with low bone mass. |
2018-03-29 |
2023-08-13 |
Not clear |
| Rania Ghorbel, Raouia Ghorbel, Aida Rouissi, Nourhene Fendri-Kriaa, Ghada Ben Salah, Neila Belguith, Leila Ammar-Keskes, Neziha Gouider-Khouja, Faiza Fakhfak. First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation. Biochemical and biophysical research communications. vol 497. issue 1. 2018-03-23. PMID:29421650. |
first report of an unusual novel double mutation affecting the transcription repression domain of mecp2 and causing a severe phenotype of rett syndrome: molecular analyses and computational investigation. |
2018-03-23 |
2023-08-13 |
Not clear |
| Rania Ghorbel, Raouia Ghorbel, Aida Rouissi, Nourhene Fendri-Kriaa, Ghada Ben Salah, Neila Belguith, Leila Ammar-Keskes, Neziha Gouider-Khouja, Faiza Fakhfak. First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation. Biochemical and biophysical research communications. vol 497. issue 1. 2018-03-23. PMID:29421650. |
this research study reports a molecular analysis via an exhaustive gene sequencing which reveals an unusual novel double mutation (c.695 g > t; c.880c > t) located in a highly conserved region in mecp2 gene affecting the transcription repression domain (trd) of mecp2 protein and leading for the first time to a severe phenotype of rett syndrome. |
2018-03-23 |
2023-08-13 |
Not clear |
| Taimoor I Sheikh, Alexia Martínez de Paz, Shamim Akhtar, Juan Ausió, John B Vincen. MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation. Human molecular genetics. vol 26. issue 21. 2018-03-21. PMID:28973632. |
methyl cpg-binding protein 2 (mecp2), the mutated protein in rett syndrome (rtt), is a crucial chromatin-modifying and gene-regulatory protein that has two main isoforms (mecp2_e1 and mecp2_ e2) due to the alternative splicing and switching between translation start codons in exons one and two. |
2018-03-21 |
2023-08-13 |
Not clear |
| Paul D Ross, Jacky Guy, Jim Selfridge, Bushra Kamal, Noha Bahey, K Elizabeth Tanner, Thomas H Gillingwater, Ross A Jones, Christopher M Loughrey, Charlotte S McCarroll, Mark E S Bailey, Adrian Bird, Stuart Cob. Exclusive expression of MeCP2 in the nervous system distinguishes between brain and peripheral Rett syndrome-like phenotypes. Human molecular genetics. vol 25. issue 20. 2018-02-26. PMID:28173151. |
rett syndrome (rtt) is a severe genetic disorder resulting from mutations in the x-linked mecp2 gene. |
2018-02-26 |
2023-08-13 |
mouse |