| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jay R Shapiro, Genila Bibat, Girish Hiremath, Mary E Blue, Shilpa Hundalani, Theodore Yablonski, Aditi Kantipuly, Charles Rohde, Michael Johnston, Sakkubai Naid. Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations. Pediatric research. vol 68. issue 5. 2011-02-01. PMID:20661168. |
bone mass in rett syndrome: association with clinical parameters and mecp2 mutations. |
2011-02-01 |
2023-08-12 |
Not clear |
| Jay R Shapiro, Genila Bibat, Girish Hiremath, Mary E Blue, Shilpa Hundalani, Theodore Yablonski, Aditi Kantipuly, Charles Rohde, Michael Johnston, Sakkubai Naid. Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations. Pediatric research. vol 68. issue 5. 2011-02-01. PMID:20661168. |
rett syndrome (rtt) is an x-linked neurodevelopmental disorder caused by mutations in the mecp2 gene. |
2011-02-01 |
2023-08-12 |
Not clear |
| Jeffrey L Neul, Walter E Kaufmann, Daniel G Glaze, John Christodoulou, Angus J Clarke, Nadia Bahi-Buisson, Helen Leonard, Mark E S Bailey, N Carolyn Schanen, Michele Zappella, Alessandra Renieri, Peter Huppke, Alan K Perc. Rett syndrome: revised diagnostic criteria and nomenclature. Annals of neurology. vol 68. issue 6. 2011-01-31. PMID:21154482. |
rett syndrome (rtt) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in methyl-cpg-binding protein 2 (mecp2). |
2011-01-31 |
2023-08-12 |
Not clear |
| Leila Schuindt Monnerat, Aline Dos Santos Moreira, Maria Carolina Viana Alves, Cibele Rodrigues Bonvicino, Fernando Regla Varga. Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. Brain & development. vol 32. issue 10. 2011-01-28. PMID:20031356. |
identification and characterization of novel sequence variations in mecp2 gene in rett syndrome patients. |
2011-01-28 |
2023-08-12 |
Not clear |
| Leila Schuindt Monnerat, Aline Dos Santos Moreira, Maria Carolina Viana Alves, Cibele Rodrigues Bonvicino, Fernando Regla Varga. Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. Brain & development. vol 32. issue 10. 2011-01-28. PMID:20031356. |
rett syndrome (rs) is a neurodevelopmental disorder caused by mutations in mecp2 gene. |
2011-01-28 |
2023-08-12 |
Not clear |
| Jochen G Hofstaetter, Katharina M Roetzer, Petra Krepler, Kamilla Nawrot-Wawrzyniak, Thomas Schwarzbraun, Klaus Klaushofer, Paul Roschge. Altered bone matrix mineralization in a patient with Rett syndrome. Bone. vol 47. issue 3. 2011-01-26. PMID:20601296. |
rett syndrome (rtt) is a common x-linked neurodevelopmental disorder caused by mutations in the coding region of methyl-cpg-binding 2 (mecp2) gene. |
2011-01-26 |
2023-08-12 |
Not clear |
| J Nectoux, Y Fichou, H Rosas-Vargas, N Cagnard, N Bahi-Buisson, P Nusbaum, F Letourneur, J Chelly, T Bienven. Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes. Journal of cellular and molecular medicine. vol 14. issue 7. 2011-01-20. PMID:20569274. |
cell cloning-based transcriptome analysis in rett patients: relevance to the pathogenesis of rett syndrome of new human mecp2 target genes. |
2011-01-20 |
2023-08-12 |
human |
| J Nectoux, Y Fichou, H Rosas-Vargas, N Cagnard, N Bahi-Buisson, P Nusbaum, F Letourneur, J Chelly, T Bienven. Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes. Journal of cellular and molecular medicine. vol 14. issue 7. 2011-01-20. PMID:20569274. |
more than 90% of rett syndrome (rtt) patients have heterozygous mutations in the x-linked methyl-cpg binding protein 2 (mecp2) gene that encodes the methyl-cpg-binding protein 2, a transcriptional modulator. |
2011-01-20 |
2023-08-12 |
human |
| M Santos, T Summavielle, A Teixeira-Castro, A Silva-Fernandes, S Duarte-Silva, F Marques, L Martins, M Dierssen, P Oliveira, N Sousa, P Macie. Monoamine deficits in the brain of methyl-CpG binding protein 2 null mice suggest the involvement of the cerebral cortex in early stages of Rett syndrome. Neuroscience. vol 170. issue 2. 2011-01-20. PMID:20633611. |
rett syndrome is a neurodevelopmental disorder caused by mutations in the methyl-cpg binding protein 2 gene (mecp2). |
2011-01-20 |
2023-08-12 |
mouse |
| M Santos, T Summavielle, A Teixeira-Castro, A Silva-Fernandes, S Duarte-Silva, F Marques, L Martins, M Dierssen, P Oliveira, N Sousa, P Macie. Monoamine deficits in the brain of methyl-CpG binding protein 2 null mice suggest the involvement of the cerebral cortex in early stages of Rett syndrome. Neuroscience. vol 170. issue 2. 2011-01-20. PMID:20633611. |
a deregulation of monoamines has been detected in the brain and cerebrospinal fluid of both rett patients and a rett syndrome murine model, the mecp2 knock-out mouse. |
2011-01-20 |
2023-08-12 |
mouse |
| Alysson R Muotri, Maria C N Marchetto, Nicole G Coufal, Ruth Oefner, Gene Yeo, Kinichi Nakashima, Fred H Gag. L1 retrotransposition in neurons is modulated by MeCP2. Nature. vol 468. issue 7322. 2011-01-06. PMID:21085180. |
using neuronal progenitor cells derived from human induced pluripotent stem cells and human tissues, we revealed that patients with rett syndrome (rtt), carrying mecp2 mutations, have increased susceptibility for l1 retrotransposition. |
2011-01-06 |
2023-08-12 |
human |
| Mei-rong Li, Hong Pan, Xin-hua Bao, Xing-wang Zhu, Guang-na Cao, Yu-zhi Zhang, Xi-ru W. [Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome]. Zhonghua er ke za zhi = Chinese journal of pediatrics. vol 47. issue 2. 2011-01-04. PMID:19573459. |
[correlation between mecp2 genotype and phenotype in chinese patients with rett syndrome]. |
2011-01-04 |
2023-08-12 |
Not clear |
| Nicolas Voituron, Clément Menuet, Mathias Dutschmann, Gérard Hilair. Physiological definition of upper airway obstructions in mouse model for Rett syndrome. Respiratory physiology & neurobiology. vol 173. issue 2. 2010-12-28. PMID:20659592. |
rett syndrome is a neuro-developmental disease accompanied by breathing symptoms including breath-hold events, and is caused by mutation of the transcriptional repressor methyl-cpg-binding protein 2 (mecp2). |
2010-12-28 |
2023-08-12 |
mouse |
| Hsiao-Tuan Chao, Hongmei Chen, Rodney C Samaco, Mingshan Xue, Maria Chahrour, Jong Yoo, Jeffrey L Neul, Shiaoching Gong, Hui-Chen Lu, Nathaniel Heintz, Marc Ekker, John L R Rubenstein, Jeffrey L Noebels, Christian Rosenmund, Huda Y Zoghb. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. vol 468. issue 7321. 2010-12-23. PMID:21068835. |
mutations in the x-linked mecp2 gene, which encodes the transcriptional regulator methyl-cpg-binding protein 2 (mecp2), cause rett syndrome and several neurodevelopmental disorders including cognitive disorders, autism, juvenile-onset schizophrenia and encephalopathy with early lethality. |
2010-12-23 |
2023-08-12 |
mouse |
| Hsiao-Tuan Chao, Hongmei Chen, Rodney C Samaco, Mingshan Xue, Maria Chahrour, Jong Yoo, Jeffrey L Neul, Shiaoching Gong, Hui-Chen Lu, Nathaniel Heintz, Marc Ekker, John L R Rubenstein, Jeffrey L Noebels, Christian Rosenmund, Huda Y Zoghb. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. vol 468. issue 7321. 2010-12-23. PMID:21068835. |
here we show that mice lacking mecp2 from gaba (γ-aminobutyric acid)-releasing neurons recapitulate numerous rett syndrome and autistic features, including repetitive behaviours. |
2010-12-23 |
2023-08-12 |
mouse |
| Hsiao-Tuan Chao, Hongmei Chen, Rodney C Samaco, Mingshan Xue, Maria Chahrour, Jong Yoo, Jeffrey L Neul, Shiaoching Gong, Hui-Chen Lu, Nathaniel Heintz, Marc Ekker, John L R Rubenstein, Jeffrey L Noebels, Christian Rosenmund, Huda Y Zoghb. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. vol 468. issue 7321. 2010-12-23. PMID:21068835. |
loss of mecp2 from a subset of forebrain gabaergic neurons also recapitulates many features of rett syndrome. |
2010-12-23 |
2023-08-12 |
mouse |
| P Makrythanasis, I Moix, S Gimelli, J Fluss, K Aliferis, S E Antonarakis, M A Morris, F Béna, A Bottan. De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features. Clinical genetics. vol 78. issue 2. 2010-12-07. PMID:20236124. |
loss-of-function mutations of mecp2 are responsible for rett syndrome (rtt), an x-linked neurodevelopmental disorder affecting mainly girls. |
2010-12-07 |
2023-08-12 |
Not clear |
| Xing-wang Zhu, Hong Pan, Mei-rong Li, Xin-hua Bao, Jing-jing Zhang, Xi-ru W. [Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in fifteen sporadic cases with Rett syndrome]. Zhonghua er ke za zhi = Chinese journal of pediatrics. vol 47. issue 8. 2010-12-02. PMID:19951486. |
[analysis of the parental origin of de novo mecp2 mutations and x chromosome inactivation in fifteen sporadic cases with rett syndrome]. |
2010-12-02 |
2023-08-12 |
Not clear |
| Xing-wang Zhu, Hong Pan, Mei-rong Li, Xin-hua Bao, Jing-jing Zhang, Xi-ru W. [Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in fifteen sporadic cases with Rett syndrome]. Zhonghua er ke za zhi = Chinese journal of pediatrics. vol 47. issue 8. 2010-12-02. PMID:19951486. |
rett syndrome (rtt) is a neurodevelopmental disorder occurring almost exclusively in females as sporadic cases due to de novo mutations in the methyl-cpg-binding protein 2 gene (mecp2). |
2010-12-02 |
2023-08-12 |
Not clear |
| Hao Wu, Jifang Tao, Pauline J Chen, Atif Shahab, Weihong Ge, Ronald P Hart, Xiaoan Ruan, Yijun Ruan, Yi E Su. Genome-wide analysis reveals methyl-CpG-binding protein 2-dependent regulation of microRNAs 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:20921386. |
rett syndrome (rtt) is a progressive neurodevelopmental disorder caused by mutations in the gene encoding methyl-cpg-binding protein 2 (mecp2). |
2010-11-22 |
2023-08-12 |
mouse |