| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| James C Cronk, Noël C Derecki, Emily Ji, Yang Xu, Aaron E Lampano, Igor Smirnov, Wendy Baker, Geoffrey T Norris, Ioana Marin, Nathan Coddington, Yochai Wolf, Stephen D Turner, Alan Aderem, Alexander L Klibanov, Tajie H Harris, Steffen Jung, Vladimir Litvak, Jonathan Kipni. Methyl-CpG Binding Protein 2 Regulates Microglia and Macrophage Gene Expression in Response to Inflammatory Stimuli. Immunity. vol 42. issue 4. 2015-06-23. PMID:25902482. |
mutations in mecp2, encoding the epigenetic regulator methyl-cpg-binding protein 2, are the predominant cause of rett syndrome, a disease characterized by both neurological symptoms and systemic abnormalities. |
2015-06-23 |
2023-08-13 |
mouse |
| Anna Maria Papini, Francesca Nuti, Feliciana Real-Fernandez, Giada Rossi, Caterina Tiberi, Giuseppina Sabatino, Shashank Pandey, Silvia Leoncini, Cinzia Signorini, Alessandra Pecorelli, Roberto Guerranti, Solange Lavielle, Lucia Ciccoli, Paolo Rovero, Claudio De Felice, Joussef Haye. Immune dysfunction in Rett syndrome patients revealed by high levels of serum anti-N(Glc) IgM antibody fraction. Journal of immunology research. vol 2014. 2015-06-22. PMID:25389532. |
rett syndrome (rtt), a neurodevelopmental disorder affecting exclusively (99%) female infants, is associated with loss-of-function mutations in the gene encoding methyl-cpg binding protein 2 (mecp2) and, more rarely, cyclin-dependent kinase-like 5 (cdkl5) and forkhead box protein g1 (foxg1). |
2015-06-22 |
2023-08-13 |
human |
| Matthew J Lyst, Adrian Bir. Rett syndrome: a complex disorder with simple roots. Nature reviews. Genetics. vol 16. issue 5. 2015-06-22. PMID:25732612. |
rett syndrome (rtt) is a severe neurological disorder caused by mutations in the x-linked gene mecp2 (methyl-cpg-binding protein 2). |
2015-06-22 |
2023-08-13 |
Not clear |
| San-Hua Su, Fang-Chi Kao, Yi-Bo Huang, Wenlin Lia. MeCP2 in the rostral striatum maintains local dopamine content critical for psychomotor control. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 35. issue 15. 2015-06-18. PMID:25878291. |
mutations of mecp2 gene cause >90% cases of rett syndrome, a neurodevelopmental disorder featured by striking psychomotor dysfunction. |
2015-06-18 |
2023-08-13 |
mouse |
| Christie M Buchovecky, Misty G Hill, Jennifer M Borkey, Stephanie M Kyle, Monica J Justic. Evaluation of Rett Syndrome Symptom Improvement by Metabolic Modulators in Mecp2-Mutant Mice. Current protocols in mouse biology. vol 3. issue 4. 2015-06-16. PMID:26069093. |
mouse models recapitulate many symptoms of rett syndrome, an x-linked disorder caused by mutations in methyl-cpg-binding protein 2 (mecp2). |
2015-06-16 |
2023-08-13 |
mouse |
| Andreea Nissenkorn, Rachel S Levy-Drummer, Ori Bondi, Alessandra Renieri, Laurent Villard, Francesca Mari, Maria A Mencarelli, Caterina Lo Rizzo, Ilaria Meloni, Mercedes Pineda, Judith Armstrong, Angus Clarke, Nadia Bahi-Buisson, Bosnjak Vlatka Mejaski, Milena Djuric, Dana Craiu, Alexsandra Djukic, Giorgio Pini, Anne Marie Bisgaard, Bela Melegh, Aglaia Vignoli, Silvia Russo, Cristina Anghelescu, Edvige Veneselli, Joussef Hayek, Bruria Ben-Zee. Epilepsy in Rett syndrome--lessons from the Rett networked database. Epilepsia. vol 56. issue 4. 2015-06-15. PMID:25789914. |
rett syndrome is an x-linked dominant neurodevelopmental disorder caused by mutations in the mecp2 gene, and characterized by cognitive and communicative regression, loss of hand use, and midline hand stereotypies. |
2015-06-15 |
2023-08-13 |
Not clear |
| Jacqueline Weissman, Sakkubai Naidu, Hans T Bjornsso. Abnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunction. Seminars in neurology. vol 34. issue 3. 2015-06-02. PMID:25192503. |
disorders of the dna methylation machinery include both the aforementioned "writers" and also the "readers" of the methyl mark, such as mecp2, the cause of rett syndrome. |
2015-06-02 |
2023-08-13 |
Not clear |
| Alessio Cortelazzo, Claudio De Felice, Alessandra Pecorelli, Giuseppe Belmonte, Cinzia Signorini, Silvia Leoncini, Gloria Zollo, Antonietta Capone, Cinzia Della Giovampaola, Claudia Sticozzi, Giuseppe Valacchi, Lucia Ciccoli, Roberto Guerranti, Joussef Haye. Beta-actin deficiency with oxidative posttranslational modifications in Rett syndrome erythrocytes: insights into an altered cytoskeletal organization. PloS one. vol 9. issue 3. 2015-06-01. PMID:24671107. |
beta-actin, a critical player in cellular functions ranging from cell motility and the maintenance of cell shape to transcription regulation, was evaluated in the erythrocyte membranes from patients with typical rett syndrome (rtt) and methyl cpg binding protein 2 (mecp2) gene mutations. |
2015-06-01 |
2023-08-12 |
human |
| Munetsugu Hara, Yoshihiro Nishi, Yushiro Yamashita, Rumiko Hirata, Satoru Takahashi, Shin-Ichiro Nagamitsu, Hiroshi Hosoda, Kenji Kangawa, Masayasu Kojima, Toyojiro Matsuish. Relation between circulating levels of GH, IGF-1, ghrelin and somatic growth in Rett syndrome. Brain & development. vol 36. issue 9. 2015-05-28. PMID:24377437. |
most cases of rett syndrome (rtt) are caused by mutations in methyl cpg binding protein 2 (mecp2), and individuals with rtt have somatic growth failure, growth arrest of brain, epilepsy, and intellectual disability (id). |
2015-05-28 |
2023-08-12 |
Not clear |
| Kingsley Wong, Helen Leonard, Peter Jacoby, Carolyn Ellaway, Jenny Down. The trajectories of sleep disturbances in Rett syndrome. Journal of sleep research. vol 24. issue 2. 2015-05-14. PMID:25219940. |
rett syndrome is a rare neurodevelopmental disorder usually affecting females, and is associated with a mutation in the mecp2 gene. |
2015-05-14 |
2023-08-13 |
human |
| Miriam Kron, Min Lang, Ian T Adams, Michael Sceniak, Frank Longo, David M Kat. A BDNF loop-domain mimetic acutely reverses spontaneous apneas and respiratory abnormalities during behavioral arousal in a mouse model of Rett syndrome. Disease models & mechanisms. vol 7. issue 9. 2015-05-12. PMID:25147297. |
reduced levels of brain-derived neurotrophic factor (bdnf) are thought to contribute to the pathophysiology of rett syndrome (rtt), a severe neurodevelopmental disorder caused by loss-of-function mutations in the gene encoding methyl-cpg-binding protein 2 (mecp2). |
2015-05-12 |
2023-08-13 |
mouse |
| Na Zhao, Dongliang Ma, Wan Ying Leong, Ju Han, Antonius VanDongen, Teng Chen, Eyleen L K Go. The methyl-CpG-binding domain (MBD) is crucial for MeCP2's dysfunction-induced defects in adult newborn neurons. Frontiers in cellular neuroscience. vol 9. 2015-05-12. PMID:25964742. |
mutations in the human x-linked gene mecp2 are responsible for most rett syndrome (rtt) cases, predominantly within its methyl-cpg-binding domain (mbd). |
2015-05-12 |
2023-08-13 |
human |
| Claudio De Felice, Floriana Della Ragione, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Lucia Ciccoli, Francesco Scalabrì, Federico Marracino, Michele Madonna, Giuseppe Belmonte, Laura Ricceri, Bianca De Filippis, Giovanni Laviola, Giuseppe Valacchi, Thierry Durand, Jean-Marie Galano, Camille Oger, Alexandre Guy, Valérie Bultel-Poncé, Jacky Guy, Stefania Filosa, Joussef Hayek, Maurizio D'Esposit. Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome. Neurobiology of disease. vol 68. 2015-05-11. PMID:24769161. |
rett syndrome (rtt) is a rare neurodevelopmental disorder affecting almost exclusively females, caused in the overwhelming majority of the cases by loss-of-function mutations in the gene encoding methyl-cpg binding protein 2 (mecp2). |
2015-05-11 |
2023-08-13 |
mouse |
| Anna Bergo, Marta Strollo, Marta Gai, Isabella Barbiero, Gilda Stefanelli, Sarah Sertic, Clementina Cobolli Gigli, Ferdinando Di Cunto, Charlotte Kilstrup-Nielsen, Nicoletta Landsberge. Methyl-CpG binding protein 2 (MeCP2) localizes at the centrosome and is required for proper mitotic spindle organization. The Journal of biological chemistry. vol 290. issue 6. 2015-05-05. PMID:25527496. |
mutations in mecp2 cause a broad spectrum of neuropsychiatric disorders of which rett syndrome represents the best defined condition. |
2015-05-05 |
2023-08-13 |
human |
| Anna Bergo, Marta Strollo, Marta Gai, Isabella Barbiero, Gilda Stefanelli, Sarah Sertic, Clementina Cobolli Gigli, Ferdinando Di Cunto, Charlotte Kilstrup-Nielsen, Nicoletta Landsberge. Methyl-CpG binding protein 2 (MeCP2) localizes at the centrosome and is required for proper mitotic spindle organization. The Journal of biological chemistry. vol 290. issue 6. 2015-05-05. PMID:25527496. |
therefore, we decided to characterize a novel mecp2 phospho-isoform (tyr-120) whose relevance was suggested by a rett syndrome patient carrying a y120d substitution possibly mimicking a constitutively phosphorylated state. |
2015-05-05 |
2023-08-13 |
human |
| Leslie Rietveld, David P Stuss, David McPhee, Kerry R Delane. Genotype-specific effects of Mecp2 loss-of-function on morphology of Layer V pyramidal neurons in heterozygous female Rett syndrome model mice. Frontiers in cellular neuroscience. vol 9. 2015-05-05. PMID:25941473. |
genotype-specific effects of mecp2 loss-of-function on morphology of layer v pyramidal neurons in heterozygous female rett syndrome model mice. |
2015-05-05 |
2023-08-13 |
mouse |
| Leslie Rietveld, David P Stuss, David McPhee, Kerry R Delane. Genotype-specific effects of Mecp2 loss-of-function on morphology of Layer V pyramidal neurons in heterozygous female Rett syndrome model mice. Frontiers in cellular neuroscience. vol 9. 2015-05-05. PMID:25941473. |
rett syndrome (rtt) is a progressive neurological disorder primarily caused by mutations in the x-linked gene methyl-cpg-binding protein 2 (mecp2). |
2015-05-05 |
2023-08-13 |
mouse |
| Chihiro Ohba, Shin Nabatame, Yoshitaka Iijima, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Fumiaki Tanaka, Keiichi Ozono, Hirotomo Saitsu, Naomichi Matsumot. De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain. Journal of human genetics. vol 59. issue 5. 2015-04-13. PMID:24621584. |
rett syndrome (rtt) is a neurodevelopmental disorder mostly caused by mecp2 mutations. |
2015-04-13 |
2023-08-12 |
Not clear |
| Lee-Way Jin, Makoto Horiuchi, Heike Wulff, Xiao-Bo Liu, Gino A Cortopassi, Jeffrey D Erickson, Izumi Maezaw. Dysregulation of glutamine transporter SNAT1 in Rett syndrome microglia: a mechanism for mitochondrial dysfunction and neurotoxicity. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 35. issue 6. 2015-04-13. PMID:25673846. |
rett syndrome (rtt) is an autism spectrum disorder caused by loss-of-function mutations in the gene encoding mecp2, an epigenetic modulator that binds the methyl cpg dinucleotide in target genes to regulate transcription. |
2015-04-13 |
2023-08-13 |
mouse |
| Tian-Lin Cheng, Zilong Qi. MeCP2: multifaceted roles in gene regulation and neural development. Neuroscience bulletin. vol 30. issue 4. 2015-03-30. PMID:25082535. |
methyl-cpg-binding protein 2 (mecp2) is a classic methylated-dna-binding protein, dysfunctions of which lead to various neurodevelopmental disorders such as rett syndrome and autism spectrum disorder. |
2015-03-30 |
2023-08-13 |
Not clear |