| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Daniela Karall, Edda Haberlandt, Sabine Scholl-Bürgi, Sara Baumgartner, Montserrat Naudó, Loreto Martorel. Homozygosity for MECP2 gene in a girl with classical Rett syndrome. European journal of medical genetics. vol 50. issue 6. 2008-03-11. PMID:17881312. |
homozygosity for mecp2 gene in a girl with classical rett syndrome. |
2008-03-11 |
2023-08-12 |
Not clear |
| Sébastien Zanella, Saida Mebarek, Anne-Marie Lajard, Nathalie Picard, Mathias Dutschmann, Gérard Hilair. Oral treatment with desipramine improves breathing and life span in Rett syndrome mouse model. Respiratory physiology & neurobiology. vol 160. issue 1. 2008-03-11. PMID:17905670. |
rett syndrome is a neurodevelopmental disease due to mecp2 gene mutations that is associated to complex neurological symptoms, with bioaminergic deficits and life-threatening apneas related to sudden and unexpected death. |
2008-03-11 |
2023-08-12 |
mouse |
| J C Russell, M E Blue, M V Johnston, S Naidu, M A Hossai. Enhanced cell death in MeCP2 null cerebellar granule neurons exposed to excitotoxicity and hypoxia. Neuroscience. vol 150. issue 3. 2008-03-10. PMID:17997046. |
rett syndrome (rtt) is associated with mutations in the transcriptional repressor gene mecp2. |
2008-03-10 |
2023-08-12 |
mouse |
| Alan K Percy, Jane B Lane, Jerry Childers, Steve Skinner, Fran Annese, Judy Barrish, Erwin Caeg, Daniel G Glaze, Patrick MacLeo. Rett syndrome: North American database. Journal of child neurology. vol 22. issue 12. 2008-03-07. PMID:18174548. |
the international rett syndrome association (irsa) north american database is the first comprehensive compilation of information in the united states and canada on individuals with rett syndrome or with another diagnosis in association with mecp2 mutations. |
2008-03-07 |
2023-08-12 |
human |
| Alan K Percy, Jane B Lane, Jerry Childers, Steve Skinner, Fran Annese, Judy Barrish, Erwin Caeg, Daniel G Glaze, Patrick MacLeo. Rett syndrome: North American database. Journal of child neurology. vol 22. issue 12. 2008-03-07. PMID:18174548. |
among the 1928 participants, 85.5% were typical, 13.4% were atypical, and 1.1% had mecp2 mutations but did not have rett syndrome. |
2008-03-07 |
2023-08-12 |
human |
| Alan K Percy, Jane B Lane, Jerry Childers, Steve Skinner, Fran Annese, Judy Barrish, Erwin Caeg, Daniel G Glaze, Patrick MacLeo. Rett syndrome: North American database. Journal of child neurology. vol 22. issue 12. 2008-03-07. PMID:18174548. |
mecp2 mutations were identified in 914 of 1059 participants (86%): 799 of 870 (92%) participants with typical rett syndrome had an mecp2 mutation, 94 of 162 (58%) with atypical rett syndrome had a mutation, and all 21 individuals diagnosed as not rett syndrome had a mutation. |
2008-03-07 |
2023-08-12 |
human |
| Virginia C N Wong, Susanna Y H L. Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. Journal of child neurology. vol 22. issue 12. 2008-03-07. PMID:18174559. |
rett syndrome: prevalence among chinese and a comparison of mecp2 mutations of classic rett syndrome with other neurodevelopmental disorders. |
2008-03-07 |
2023-08-12 |
Not clear |
| Virginia C N Wong, Susanna Y H L. Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. Journal of child neurology. vol 22. issue 12. 2008-03-07. PMID:18174559. |
mutation of the methyl-cpg-binding protein 2 gene (mecp2) is present in up to 96% of patients with rett syndrome. |
2008-03-07 |
2023-08-12 |
Not clear |
| Virginia C N Wong, Susanna Y H L. Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. Journal of child neurology. vol 22. issue 12. 2008-03-07. PMID:18174559. |
eight mutations represent the hotspot of mecp2 mutations (r106w, r133c, t158m, r168x, r255x, r270x, r294x, and r306c) in patients with classic rett syndrome. |
2008-03-07 |
2023-08-12 |
Not clear |
| Virginia C N Wong, Susanna Y H L. Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. Journal of child neurology. vol 22. issue 12. 2008-03-07. PMID:18174559. |
screening of mecp2 mutations is not worthwhile in chinese children with pure cognitive, autistic, or unexplained epileptic disorders without other signs of rett syndrome. |
2008-03-07 |
2023-08-12 |
Not clear |
| Virginia C N Wong, Susanna Y H L. Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. Journal of child neurology. vol 22. issue 12. 2008-03-07. PMID:18174559. |
in the early stage of developmental arrest before developmental regression, mecp2 screening might be useful for girls with unexplained epileptic encephalopathy before full-blown classic rett syndrome is evident. |
2008-03-07 |
2023-08-12 |
Not clear |
| Xinhua Bao, Shengling Jiang, Fuying Song, Hong Pan, Meirong Li, Xi-Ru W. X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype. Journal of child neurology. vol 23. issue 1. 2008-03-07. PMID:18184939. |
x chromosome inactivation in rett syndrome and its correlations with mecp2 mutations and phenotype. |
2008-03-07 |
2023-08-12 |
Not clear |
| Xinhua Bao, Shengling Jiang, Fuying Song, Hong Pan, Meirong Li, Xi-Ru W. X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype. Journal of child neurology. vol 23. issue 1. 2008-03-07. PMID:18184939. |
rett syndrome (rtt) is an x-linked dominant neurodevelopment disorder, which is mainly caused by gene mutation of methyl-cpg-binding protein 2 (mecp2). |
2008-03-07 |
2023-08-12 |
Not clear |
| John M Bissonnette, Sharon J Knop. Effect of inspired oxygen on periodic breathing in methy-CpG-binding protein 2 (Mecp2) deficient mice. Journal of applied physiology (Bethesda, Md. : 1985). vol 104. issue 1. 2008-02-28. PMID:18006868. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations in the x-linked gene methyl-cpg-binding protein 2 (mecp2) that encodes a dna binding protein involved in gene silencing. |
2008-02-28 |
2023-08-12 |
mouse |
| Amy Lawson-Yuen, Daniel Liu, Liqun Han, Zhichun I Jiang, Guochuan E Tsai, Alo C Basu, Jonathan Picker, Jiamin Feng, Joseph T Coyl. Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice. Brain research. vol 1180. 2008-02-05. PMID:17936729. |
mutations in the transcriptional repressor methyl cpg binding protein 2 (mecp2) are responsible for most cases of rett syndrome (rs), a severe neurodevelopmental disorder characterized by developmental regression, minimal speech, seizures, postnatal microcephaly and hand stereotypies. |
2008-02-05 |
2023-08-12 |
mouse |
| Kerry Baldwin Jedel. The overlapping spectrum of rett and angelman syndromes: a clinical review. Seminars in pediatric neurology. vol 14. issue 3. 2008-02-01. PMID:17980307. |
rett syndrome is caused by a mutation in the mecp2 gene located on xq28, whereas angelman syndrome results from the loss of ube3a function on chromosomal region 15q11-q13 related to a variety of molecular genetic mechanisms. |
2008-02-01 |
2023-08-12 |
mouse |
| Matías Alvarez-Saavedra, Mauricio A Sáez, Dongcheul Kang, Huda Y Zoghbi, Juan I Youn. Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis. Human molecular genetics. vol 16. issue 19. 2008-01-24. PMID:17635839. |
cell-specific expression of wild-type mecp2 in mouse models of rett syndrome yields insight about pathogenesis. |
2008-01-24 |
2023-08-12 |
mouse |
| Matías Alvarez-Saavedra, Mauricio A Sáez, Dongcheul Kang, Huda Y Zoghbi, Juan I Youn. Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis. Human molecular genetics. vol 16. issue 19. 2008-01-24. PMID:17635839. |
rett syndrome (rtt), a leading cause of mental retardation with autistic features in females, is caused by mutations in the gene encoding methyl-cpg-binding protein 2 (mecp2). |
2008-01-24 |
2023-08-12 |
mouse |
| Simon A Hardwick, Kirsten Reuter, Sarah L Williamson, Vidya Vasudevan, Jennifer Donald, Katrina Slater, Bruce Bennetts, Ami Bebbington, Helen Leonard, Simon R Williams, Robert L Smith, Desiree Cloosterman, John Christodoulo. Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. European journal of human genetics : EJHG. vol 15. issue 12. 2008-01-22. PMID:17712354. |
delineation of large deletions of the mecp2 gene in rett syndrome patients, including a familial case with a male proband. |
2008-01-22 |
2023-08-12 |
Not clear |
| Simon A Hardwick, Kirsten Reuter, Sarah L Williamson, Vidya Vasudevan, Jennifer Donald, Katrina Slater, Bruce Bennetts, Ami Bebbington, Helen Leonard, Simon R Williams, Robert L Smith, Desiree Cloosterman, John Christodoulo. Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. European journal of human genetics : EJHG. vol 15. issue 12. 2008-01-22. PMID:17712354. |
comprehensive genetic screening programs have led to the identification of pathogenic methyl-cpg-binding protein 2 (mecp2) mutations in up to 95% of classical rett syndrome (rtt) patients. |
2008-01-22 |
2023-08-12 |
Not clear |