| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jenny Downs, Helen Leonar. Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families. Wiener medizinische Wochenschrift (1946). vol 166. issue 11-12. 2017-05-16. PMID:27491552. |
rett syndrome is a rare neurodevelopmental disorder caused by a mutation in the mecp2 gene. |
2017-05-16 |
2023-08-13 |
Not clear |
| Daniel C Tarquinio, Wei Hou, Anne Berg, Walter E Kaufmann, Jane B Lane, Steven A Skinner, Kathleen J Motil, Jeffrey L Neul, Alan K Percy, Daniel G Glaz. Longitudinal course of epilepsy in Rett syndrome and related disorders. Brain : a journal of neurology. vol 140. issue 2. 2017-05-12. PMID:28007990. |
epilepsy is common in rett syndrome, an x-linked dominant disorder caused by mutations in the mecp2 gene, and in rett-related disorders, such as mecp2 duplication. |
2017-05-12 |
2023-08-13 |
human |
| Daniel C Tarquinio, Wei Hou, Anne Berg, Walter E Kaufmann, Jane B Lane, Steven A Skinner, Kathleen J Motil, Jeffrey L Neul, Alan K Percy, Daniel G Glaz. Longitudinal course of epilepsy in Rett syndrome and related disorders. Brain : a journal of neurology. vol 140. issue 2. 2017-05-12. PMID:28007990. |
participants with clinical rett syndrome and those with mecp2 mutations without the clinical syndrome were recruited through the rett natural history study from 2006 to 2015. |
2017-05-12 |
2023-08-13 |
human |
| Matthew J Lyst, John Connelly, Cara Merusi, Adrian Bir. Sequence-specific DNA binding by AT-hook motifs in MeCP2. FEBS letters. vol 590. issue 17. 2017-05-05. PMID:27461740. |
mecp2 is a chromatin-associated protein that is mutated in rett syndrome. |
2017-05-05 |
2023-08-13 |
Not clear |
| Shih-Jen Tsa. Therapeutic Potential of Transcranial Focused Ultrasound for Rett Syndrome. Medical science monitor : international medical journal of experimental and clinical research. vol 22. 2017-05-05. PMID:27786169. |
rett syndrome (rtt) is a severe neurodevelopmental disorder occurring almost exclusively in females and is caused by loss-of-function mutations in the gene encoding methyl-cpg-binding protein 2 (mecp2) in the majority of cases. |
2017-05-05 |
2023-08-13 |
mouse |
| B Schönewolf-Greulich, M-I Tejada, K Stephens, K Hadzsiev, J Gauthier, K Brøndum-Nielsen, R Pfundt, K Ravn, H Maortua, B Gener, C Martínez-Bouzas, A Piton, G Rouleau, J Clayton-Smith, T Kleefstra, A-M Bisgaard, Z Tüme. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. Clinical genetics. vol 89. issue 6. 2017-05-03. PMID:26936630. |
the mecp2 variant c.925c>t (p.arg309trp) causes intellectual disability in both males and females without classic features of rett syndrome. |
2017-05-03 |
2023-08-13 |
Not clear |
| B Schönewolf-Greulich, M-I Tejada, K Stephens, K Hadzsiev, J Gauthier, K Brøndum-Nielsen, R Pfundt, K Ravn, H Maortua, B Gener, C Martínez-Bouzas, A Piton, G Rouleau, J Clayton-Smith, T Kleefstra, A-M Bisgaard, Z Tüme. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. Clinical genetics. vol 89. issue 6. 2017-05-03. PMID:26936630. |
missense mecp2 variants can have various phenotypic effects ranging from a normal phenotype to typical rett syndrome (rtt). |
2017-05-03 |
2023-08-13 |
Not clear |
| Daniela Zahorakova, Petra Lelkova, Vladimir Gregor, Martin Magner, Jiri Zeman, Pavel Martase. MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning. Journal of human genetics. vol 61. issue 7. 2017-04-06. PMID:26984561. |
mecp2 mutations in czech patients with rett syndrome and rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning. |
2017-04-06 |
2023-08-13 |
Not clear |
| Ronghui Li, Qiping Dong, Xinni Yuan, Xin Zeng, Yu Gao, Cassandra Chiao, Hongda Li, Xinyu Zhao, Sunduz Keles, Zefeng Wang, Qiang Chan. Misregulation of Alternative Splicing in a Mouse Model of Rett Syndrome. PLoS genetics. vol 12. issue 6. 2017-03-17. PMID:27352031. |
mutations in the human mecp2 gene cause rett syndrome (rtt), a severe neurodevelopmental disorder that predominantly affects girls. |
2017-03-17 |
2023-08-13 |
mouse |
| Marwa Kharrat, Ines Hsairi, Hajer Doukali, Nourhene Fendri-Kriaa, Hassen Kammoun, Leila Ammar-Keskes, Chahnez Triki, Faiza Fakhfak. Phenotypic variability in two infants sharing the same MECP2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome. Acta neurologica Belgica. vol 117. issue 1. 2017-03-15. PMID:27379843. |
phenotypic variability in two infants sharing the same mecp2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in rett syndrome. |
2017-03-15 |
2023-08-13 |
Not clear |
| Marwa Kharrat, Ines Hsairi, Hajer Doukali, Nourhene Fendri-Kriaa, Hassen Kammoun, Leila Ammar-Keskes, Chahnez Triki, Faiza Fakhfak. Phenotypic variability in two infants sharing the same MECP2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome. Acta neurologica Belgica. vol 117. issue 1. 2017-03-15. PMID:27379843. |
rett syndrome (rtt) whose major cause is the mutations in the x-linked mecp2 gene is a genetic disease that affects females. |
2017-03-15 |
2023-08-13 |
Not clear |
| Lobna Mansour, Ezzat El Sobky, Solaf M Mohamed, Huda Marzouk, Lamia A Tare. Genotype-phenotype relationship among Egyptian children with Rett syndrome. The Journal of the Egyptian Public Health Association. vol 90. issue 3. 2017-03-07. PMID:26544843. |
rett syndrome (rtt) is an x-linked dominant neurodegenerative disorder with various mecp2 mutations. |
2017-03-07 |
2023-08-13 |
Not clear |
| Francesco Bedogni, Clementina Cobolli Gigli, Davide Pozzi, Riccardo Lorenzo Rossi, Linda Scaramuzza, Grazisa Rossetti, Massimiliano Pagani, Charlotte Kilstrup-Nielsen, Michela Matteoli, Nicoletta Landsberge. Defects During Mecp2 Null Embryonic Cortex Development Precede the Onset of Overt Neurological Symptoms. Cerebral cortex (New York, N.Y. : 1991). vol 26. issue 6. 2017-03-06. PMID:25979088. |
mecp2 is associated with several neurological disorders; of which, rett syndrome undoubtedly represents the most frequent. |
2017-03-06 |
2023-08-13 |
Not clear |
| Fang Liu, Jing-Jing Ni, Feng-Yan Su. Expression of Phospho-MeCP2s in the Developing Rat Brain and Function of Postnatal MeCP2 in Cerebellar Neural Cell Development. Neuroscience bulletin. vol 33. issue 1. 2017-02-28. PMID:27995568. |
abnormal expression and dysfunction of methyl-cpg binding protein 2 (mecp2) cause rett syndrome (rtt). |
2017-02-28 |
2023-08-13 |
rat |
| Sophie Lambert, Isabelle Maystadt, Sébastien Boulanger, Pascal Vrielynck, Anne Destrée, Damien Lederer, Stéphanie Moortga. Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity. European journal of medical genetics. vol 59. issue 10. 2017-02-07. PMID:27465203. |
mutations in mecp2 (mim #312750), located on xq28 and encoding a methyl cpg binding protein, are classically associated with rett syndrome in female patients, with a lethal effect in hemizygous males. |
2017-02-07 |
2023-08-13 |
Not clear |
| Laura Bianciardi, Marco Fichera, Pinella Failla, Chiara Di Marco, Detelina Grozeva, Maria Antonietta Mencarelli, Ottavia Spiga, Francesca Mari, Ilaria Meloni, Lucy Raymond, Alessandra Renieri, Corrado Romano, Francesca Arian. MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. Journal of human genetics. vol 61. issue 2. 2017-02-06. PMID:26490184. |
mutations in mecp2 in females are associated with rett syndrome, a neurological disorder characterized by a normal neonatal period, followed by the arrest of development and regression of acquired skills. |
2017-02-06 |
2023-08-13 |
Not clear |
| Jing-Wen Lyu, Bo Yuan, Tian-Lin Cheng, Zi-Long Qiu, Wen-Hao Zho. Reciprocal regulation of autism-related genes MeCP2 and PTEN via microRNAs. Scientific reports. vol 6. 2017-01-10. PMID:26843422. |
mecp2 encodes a methyl-cpg-binding protein that plays a critical role in repressing gene expression, mutations of which lead to rett syndrome and autism. |
2017-01-10 |
2023-08-13 |
human |
| E M Boggio, L Pancrazi, M Gennaro, C Lo Rizzo, F Mari, I Meloni, F Ariani, A Panighini, E Novelli, M Biagioni, E Strettoi, J Hayek, A Rufa, T Pizzorusso, A Renieri, M Cost. Visual impairment in FOXG1-mutated individuals and mice. Neuroscience. vol 324. 2017-01-03. PMID:27001178. |
mutations in foxg1 have been reported to be involved in the onset of rett syndrome, for which sequence alterations of mecp2 and cdkl5 are known. |
2017-01-03 |
2023-08-13 |
mouse |
| E M Boggio, L Pancrazi, M Gennaro, C Lo Rizzo, F Mari, I Meloni, F Ariani, A Panighini, E Novelli, M Biagioni, E Strettoi, J Hayek, A Rufa, T Pizzorusso, A Renieri, M Cost. Visual impairment in FOXG1-mutated individuals and mice. Neuroscience. vol 324. 2017-01-03. PMID:27001178. |
while visual alterations are not classical hallmarks of rett syndrome, an increasing body of evidence shows visual impairment in patients and in mecp2 and cdkl5 animal models. |
2017-01-03 |
2023-08-13 |
mouse |
| Michael P Sceniak, Min Lang, Addison C Enomoto, C James Howell, Douglas J Hermes, David M Kat. Mechanisms of Functional Hypoconnectivity in the Medial Prefrontal Cortex of Mecp2 Null Mice. Cerebral cortex (New York, N.Y. : 1991). vol 26. issue 5. 2016-12-30. PMID:25662825. |
the present study sought to define how loss of mecp2, the gene mutated in rett syndrome (rtt), disrupts function in the murine medial prefrontal cortex (mpfc) using acute brain slices and behavioral testing. |
2016-12-30 |
2023-08-13 |
mouse |