| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Ana P L Abdala, Mathias Dutschmann, John M Bissonnette, Julian F R Pato. Correction of respiratory disorders in a mouse model of Rett syndrome. Proceedings of the National Academy of Sciences of the United States of America. vol 107. issue 42. 2010-11-22. PMID:20921395. |
rett syndrome (rtt) is an autism spectrum disorder caused by mutations in the x-linked gene that encodes the transcription factor methyl-cpg-binding protein 2 (mecp2). |
2010-11-22 |
2023-08-12 |
mouse |
| Mei-rong Li, Hong Pan, Xin-hua Bao, Guang-na Cao, Xi-ru W. [Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome]. Zhonghua er ke za zhi = Chinese journal of pediatrics. vol 45. issue 8. 2010-11-16. PMID:18021529. |
rett syndrome (rtt, mim 312750) is a progressive neurodevelopmental disorder that affects females almost exclusively, caused by mutations in mecp2 gene on chromosome xq28, with symptoms such as autism, severe mental deficiency, deceleration of head growth, ataxia, loss of purposeful hand function and characteristic stereotypic hand movements. |
2010-11-16 |
2023-08-12 |
Not clear |
| Deepali Jain, Kamaljeet Singh, Sankar Chirumamilla, Genila M Bibat, Mary E Blue, Sakkubai R Naidu, Charles G Eberhar. Ocular MECP2 protein expression in patients with and without Rett syndrome. Pediatric neurology. vol 43. issue 1. 2010-11-12. PMID:20682201. |
ocular mecp2 protein expression in patients with and without rett syndrome. |
2010-11-12 |
2023-08-12 |
mouse |
| Deepali Jain, Kamaljeet Singh, Sankar Chirumamilla, Genila M Bibat, Mary E Blue, Sakkubai R Naidu, Charles G Eberhar. Ocular MECP2 protein expression in patients with and without Rett syndrome. Pediatric neurology. vol 43. issue 1. 2010-11-12. PMID:20682201. |
rett syndrome is a neurodevelopmental disorder caused by mutations in the methyl cpg binding protein 2 gene (mecp2). |
2010-11-12 |
2023-08-12 |
mouse |
| Deepali Jain, Kamaljeet Singh, Sankar Chirumamilla, Genila M Bibat, Mary E Blue, Sakkubai R Naidu, Charles G Eberhar. Ocular MECP2 protein expression in patients with and without Rett syndrome. Pediatric neurology. vol 43. issue 1. 2010-11-12. PMID:20682201. |
the mecp2 protein is expressed primarily in neurons, and mutations in the gene lead to the clinical features of rett syndrome in human patients and neurologic deficits in murine models. |
2010-11-12 |
2023-08-12 |
mouse |
| Deepali Jain, Kamaljeet Singh, Sankar Chirumamilla, Genila M Bibat, Mary E Blue, Sakkubai R Naidu, Charles G Eberhar. Ocular MECP2 protein expression in patients with and without Rett syndrome. Pediatric neurology. vol 43. issue 1. 2010-11-12. PMID:20682201. |
no significant differences in mecp2 protein level or distribution were identified in the two eyes from the rett syndrome patients, compared with 11 controls. |
2010-11-12 |
2023-08-12 |
mouse |
| Deepali Jain, Kamaljeet Singh, Sankar Chirumamilla, Genila M Bibat, Mary E Blue, Sakkubai R Naidu, Charles G Eberhar. Ocular MECP2 protein expression in patients with and without Rett syndrome. Pediatric neurology. vol 43. issue 1. 2010-11-12. PMID:20682201. |
the findings suggest that the normally limited expression of mecp2 in visual pathway neurons may underlie the intact vision observed in rett syndrome. |
2010-11-12 |
2023-08-12 |
mouse |
| Greta Forlani, Elisa Giarda, Ugo Ala, Ferdinando Di Cunto, Monica Salani, Rossella Tupler, Charlotte Kilstrup-Nielsen, Nicoletta Landsberge. The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis. Human molecular genetics. vol 19. issue 16. 2010-10-29. PMID:20504995. |
rett syndrome is a severe neurodevelopmental disorder mainly caused by mutations in the transcriptional regulator mecp2. |
2010-10-29 |
2023-08-12 |
mouse |
| Greta Forlani, Elisa Giarda, Ugo Ala, Ferdinando Di Cunto, Monica Salani, Rossella Tupler, Charlotte Kilstrup-Nielsen, Nicoletta Landsberge. The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis. Human molecular genetics. vol 19. issue 16. 2010-10-29. PMID:20504995. |
collectively, our data indicate that mutations in mecp2 might cause the aberrant overexpression of genes located at a specific locus, thus providing new candidates for the pathogenesis of rett syndrome. |
2010-10-29 |
2023-08-12 |
mouse |
| Frédéric Gambino, Malik Khelfaoui, Bernard Poulain, Thierry Bienvenu, Jamel Chelly, Yann Humea. Synaptic maturation at cortical projections to the lateral amygdala in a mouse model of Rett syndrome. PloS one. vol 5. issue 7. 2010-10-28. PMID:20625482. |
rett syndrome (rtt) is a neuro-developmental disorder caused by loss of function of mecp2--methyl-cpg-binding protein 2--an epigenetic factor controlling dna transcription. |
2010-10-28 |
2023-08-12 |
mouse |
| Bredford Kerr, Pamela A Silva, Katherina Walz, Juan I Youn. Unconventional transcriptional response to environmental enrichment in a mouse model of Rett syndrome. PloS one. vol 5. issue 7. 2010-10-28. PMID:20634955. |
rett syndrome (rtt) is an x-linked postnatal neurodevelopmental disorder caused by mutations in the gene encoding methyl-cpg binding protein 2 (mecp2) and one of the leading causes of mental retardation in females. |
2010-10-28 |
2023-08-12 |
mouse |
| Xingwang Zhu, Meirong Li, Hong Pan, Xinhua Bao, Jingjing Zhang, Xiru W. Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China. Journal of child neurology. vol 25. issue 7. 2010-10-25. PMID:20207612. |
analysis of the parental origin of de novo mecp2 mutations and x chromosome inactivation in 24 sporadic patients with rett syndrome in china. |
2010-10-25 |
2023-08-12 |
Not clear |
| Joseph P Pillion, Genila Bibat, Sakkubai Naid. Effects of sedation on auditory brainstem response in Rett syndrome. Pediatric neurology. vol 42. issue 5. 2010-10-25. PMID:20399386. |
this study examined the effects of sedation on auditory brainstem response interpeak latency intervals (i.e., i-iii, iii-v, and i-v) in two groups: (1) a group with rett syndrome who were positive for mutations in the mecp2 gene and (2) a group negative for mutations in the mecp2 gene but who were severely to profoundly delayed with other causes of mental retardation. |
2010-10-25 |
2023-08-12 |
human |
| Andreea C Popescu, Elena Sidorova, Guangming Zhang, James H Eubank. Aminoglycoside-mediated partial suppression of MECP2 nonsense mutations responsible for Rett syndrome in vitro. Journal of neuroscience research. vol 88. issue 11. 2010-10-20. PMID:20623622. |
aminoglycoside-mediated partial suppression of mecp2 nonsense mutations responsible for rett syndrome in vitro. |
2010-10-20 |
2023-08-12 |
Not clear |
| Andreea C Popescu, Elena Sidorova, Guangming Zhang, James H Eubank. Aminoglycoside-mediated partial suppression of MECP2 nonsense mutations responsible for Rett syndrome in vitro. Journal of neuroscience research. vol 88. issue 11. 2010-10-20. PMID:20623622. |
approximately 30% of rett syndrome cases arise from point mutations that introduce a premature stop codon into the mecp2 gene. |
2010-10-20 |
2023-08-12 |
Not clear |
| Andreea C Popescu, Elena Sidorova, Guangming Zhang, James H Eubank. Aminoglycoside-mediated partial suppression of MECP2 nonsense mutations responsible for Rett syndrome in vitro. Journal of neuroscience research. vol 88. issue 11. 2010-10-20. PMID:20623622. |
in this study, we tested whether the common premature terminating mutations of mecp2 seen in rett syndrome cases can be partially suppressed by aminoglycoside administration. |
2010-10-20 |
2023-08-12 |
Not clear |
| Andreea C Popescu, Elena Sidorova, Guangming Zhang, James H Eubank. Aminoglycoside-mediated partial suppression of MECP2 nonsense mutations responsible for Rett syndrome in vitro. Journal of neuroscience research. vol 88. issue 11. 2010-10-20. PMID:20623622. |
in addition, we also show that aminoglycosides increased the prevalence of full-length mecp2 protein in a dose-dependent manner in a lymphocyte cell line derived from a rett syndrome girl with the r255x mutation. |
2010-10-20 |
2023-08-12 |
Not clear |
| Laura R Schaevitz, Jennifer M Moriuchi, Nupur Nag, Tiffany J Mellot, Joanne Berger-Sweene. Cognitive and social functions and growth factors in a mouse model of Rett syndrome. Physiology & behavior. vol 100. issue 3. 2010-10-12. PMID:20045424. |
rett syndrome (rtt) is an autism-spectrum disorder caused by mutations in the x-linked gene encoding methyl-cpg-binding protein 2 (mecp2). |
2010-10-12 |
2023-08-12 |
mouse |
| Salvatore A Current. Understanding and determining the etiology of autism. Cellular and molecular neurobiology. vol 30. issue 2. 2010-10-06. PMID:19774457. |
impaired methylation and mutations of mecp2 have been associated with autistic spectrum disorders, and related rett syndrome. |
2010-10-06 |
2023-08-12 |
Not clear |
| Heh-In Im, Jonathan A Hollander, Purva Bali, Paul J Kenn. MeCP2 controls BDNF expression and cocaine intake through homeostatic interactions with microRNA-212. Nature neuroscience. vol 13. issue 9. 2010-10-04. PMID:20711185. |
the x-linked transcriptional repressor methyl cpg binding protein 2 (mecp2), known for its role in the neurodevelopmental disorder rett syndrome, is emerging as an important regulator of neuroplasticity in postmitotic neurons. |
2010-10-04 |
2023-08-12 |
rat |