| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Claudio De Felice, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Thierry Durand, Giuseppe Valacchi, Lucia Ciccoli, Joussef Haye. The role of oxidative stress in Rett syndrome: an overview. Annals of the New York Academy of Sciences. vol 1259. 2012-09-27. PMID:22758644. |
the main cause of rett syndrome (rtt), a pervasive development disorder almost exclusively affecting females, is a mutation in the methyl-cpg binding protein 2 (mecp2) gene. |
2012-09-27 |
2023-08-12 |
human |
| Rima Woods, Roxanne O Vallero, Mari S Golub, Joanne K Suarez, Tram Anh Ta, Dag H Yasui, Lai-Har Chi, Paul J Kostyniak, Isaac N Pessah, Robert F Berman, Janine M LaSall. Long-lived epigenetic interactions between perinatal PBDE exposure and Mecp2308 mutation. Human molecular genetics. vol 21. issue 11. 2012-09-21. PMID:22343140. |
rett syndrome is an x-linked asd caused by mutations in the epigenetic factor methyl-cpg binding protein 2 (mecp2). |
2012-09-21 |
2023-08-12 |
mouse |
| Michael L Gonzales, Sarrita Adams, Keith W Dunaway, Janine M LaSall. Phosphorylation of distinct sites in MeCP2 modifies cofactor associations and the dynamics of transcriptional regulation. Molecular and cellular biology. vol 32. issue 14. 2012-09-20. PMID:22615490. |
mutations in the gene encoding methyl-cpg-binding protein 2 (mecp2) lead to disrupted neuronal function and can cause the neurodevelopmental disorder rett syndrome. |
2012-09-20 |
2023-08-12 |
Not clear |
| Rebecca A Johnson, Maxine Lam, Antonio M Punzo, Hongda Li, Benjamin R Lin, Keqiang Ye, Gordon S Mitchell, Qiang Chan. 7,8-dihydroxyflavone exhibits therapeutic efficacy in a mouse model of Rett syndrome. Journal of applied physiology (Bethesda, Md. : 1985). vol 112. issue 5. 2012-09-11. PMID:22194327. |
rett syndrome (rtt), caused by mutations in the methyl-cpg binding protein 2 gene (mecp2), is a debilitating autism spectrum developmental disorder predominantly affecting females. |
2012-09-11 |
2023-08-12 |
mouse |
| Nourhene Fendri-Kriaa, Aida Rouissi, Rania Ghorbel, Emna Mkaouar-Rebai, Neila Belguith, Naziha Gouider-Khouja, Faiza Fakhfak. Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients. Journal of child neurology. vol 27. issue 5. 2012-09-04. PMID:21940684. |
novel mutations in the c-terminal region of the mecp2 gene in tunisian rett syndrome patients. |
2012-09-04 |
2023-08-12 |
Not clear |
| Nourhene Fendri-Kriaa, Aida Rouissi, Rania Ghorbel, Emna Mkaouar-Rebai, Neila Belguith, Naziha Gouider-Khouja, Faiza Fakhfak. Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients. Journal of child neurology. vol 27. issue 5. 2012-09-04. PMID:21940684. |
rett syndrome (rtt), an x-linked dominant neurodevelopmental disorder in females, is caused mainly by de novo mutations in the methyl-cpg-binding protein 2 gene (mecp2). |
2012-09-04 |
2023-08-12 |
Not clear |
| Nourhene Fendri-Kriaa, Aida Rouissi, Rania Ghorbel, Emna Mkaouar-Rebai, Neila Belguith, Naziha Gouider-Khouja, Faiza Fakhfak. Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients. Journal of child neurology. vol 27. issue 5. 2012-09-04. PMID:21940684. |
in the present study, we performed a mutational analysis of the mecp2 gene in 2 typical rett syndrome patients and in 1 atypical rett syndrome girl. |
2012-09-04 |
2023-08-12 |
Not clear |
| S Corbani, E Chouery, J Fayyad, A Fawaz, O El Tourjuman, C Badens, C Lacoste, V Delague, A Megarban. Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation. Journal of intellectual disability research : JIDR. vol 56. issue 4. 2012-08-31. PMID:21954873. |
molecular screening of mecp2 gene in a cohort of lebanese patients suspected with rett syndrome: report on a mild case with a novel indel mutation. |
2012-08-31 |
2023-08-12 |
human |
| Claudio De Felice, Silvia Maffei, Cinzia Signorini, Silvia Leoncini, Stefano Lunghetti, Giuseppe Valacchi, Maurizio D'Esposito, Stefania Filosa, Floriana Della Ragione, Gianfranco Butera, Roberto Favilli, Lucia Ciccoli, Joussef Haye. Subclinical myocardial dysfunction in Rett syndrome. European heart journal. Cardiovascular Imaging. vol 13. issue 4. 2012-08-21. PMID:22113206. |
rett syndrome (rtt) is a rare neurodevelopmental disorder frequently linked to methyl-cpg-binding protein 2 (mecp2) gene mutations. |
2012-08-21 |
2023-08-12 |
Not clear |
| Sonya Marshak, Margarita M Meynard, Ymkje A De Vries, Adhanet H Kidane, Susana Cohen-Cor. Cell-autonomous alterations in dendritic arbor morphology and connectivity induced by overexpression of MeCP2 in Xenopus central neurons in vivo. PloS one. vol 7. issue 3. 2012-08-20. PMID:22427975. |
mutations in the mecp2 gene have been linked to rett syndrome, a severe x-linked progressive neurodevelopmental disorder, and one of the most common causes of mental retardation in females. |
2012-08-20 |
2023-08-12 |
human |
| Robert G Wither, Sinisa Colic, Chiping Wu, Berj L Bardakjian, Liang Zhang, James H Eubank. Daily rhythmic behaviors and thermoregulatory patterns are disrupted in adult female MeCP2-deficient mice. PloS one. vol 7. issue 4. 2012-08-03. PMID:22523589. |
mutations in the x-linked gene encoding methyl-cpg-binding protein 2 (mecp2) have been associated with neurodevelopmental and neuropsychiatric disorders including rett syndrome, x-linked mental retardation syndrome, severe neonatal encephalopathy, and angelman syndrome. |
2012-08-03 |
2023-08-12 |
mouse |
| Yasunori Okabe, Tomoyuki Takahashi, Chiaki Mitsumasu, Ken-ichiro Kosai, Eiichiro Tanaka, Toyojiro Matsuish. Alterations of gene expression and glutamate clearance in astrocytes derived from an MeCP2-null mouse model of Rett syndrome. PloS one. vol 7. issue 4. 2012-08-03. PMID:22532851. |
rett syndrome (rtt) is a neurodevelopmetal disorder associated with mutations in the methyl-cpg-binding protein 2 (mecp2) gene. |
2012-08-03 |
2023-08-12 |
mouse |
| David P Stuss, Jamie D Boyd, David B Levin, Kerry R Delane. MeCP2 mutation results in compartment-specific reductions in dendritic branching and spine density in layer 5 motor cortical neurons of YFP-H mice. PloS one. vol 7. issue 3. 2012-08-02. PMID:22412847. |
rett syndrome (rtt) is a neurodevelopmental disorder predominantly caused by mutations in the x-linked gene mecp2. |
2012-08-02 |
2023-08-12 |
mouse |
| Robby Mathew Zachariah, Mojgan Rastega. Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research. Neural plasticity. vol 2012. 2012-08-02. PMID:22474603. |
linking epigenetics to human disease and rett syndrome: the emerging novel and challenging concepts in mecp2 research. |
2012-08-02 |
2023-08-12 |
human |
| Robby Mathew Zachariah, Mojgan Rastega. Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research. Neural plasticity. vol 2012. 2012-08-02. PMID:22474603. |
a well-known link between epigenetics and human disease is the x-linked mecp2 gene, mutations in which lead to the neurological disorder, rett syndrome. |
2012-08-02 |
2023-08-12 |
human |
| Robby Mathew Zachariah, Mojgan Rastega. Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research. Neural plasticity. vol 2012. 2012-08-02. PMID:22474603. |
furthermore, it is becoming evident that although rett syndrome is a progressive and postnatal neurological disorder, the consequences of mecp2 deficiencies initiate much earlier and before birth. |
2012-08-02 |
2023-08-12 |
human |
| Robby Mathew Zachariah, Mojgan Rastega. Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research. Neural plasticity. vol 2012. 2012-08-02. PMID:22474603. |
to comprehend the novel and challenging concepts in mecp2 research and to design effective therapeutic strategies for rett syndrome, a targeted collaborative effort from scientists in multiple research areas to clinicians is required. |
2012-08-02 |
2023-08-12 |
human |
| Roksana Armani, Hayley Archer, Angus Clarke, Pradeep Vasudevan, Christiane Zweier, Gladys Ho, Sarah Williamson, Desiree Cloosterman, Nan Yang, John Christodoulo. Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome. American journal of medical genetics. Part A. vol 158A. issue 4. 2012-07-30. PMID:22383159. |
the systematic screening of rett syndrome (rtt) patients for pathogenetic sequence variations has focused on three genes that have been associated with rtt or related clinical phenotypes, namely mecp2, cdkl5, and foxg1. |
2012-07-30 |
2023-08-12 |
Not clear |
| Eveline E O Hagebeuk, Marinus Duran, Johannes H T M Koelman, Nicolaas G G M Abeling, Arno Vyth, Bwee-Tien Poll-Th. Folinic acid supplementation in Rett syndrome patients does not influence the course of the disease: a randomized study. Journal of child neurology. vol 27. issue 3. 2012-07-26. PMID:21868372. |
rett syndrome is a neurodevelopmental disorder in girls, related to mutations in mecp2 gene. |
2012-07-26 |
2023-08-12 |
Not clear |
| Jennifer N Sanmann, G Bradley Schaefer, Bruce A Buehler, Warren G Sange. Algorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities. Journal of child neurology. vol 27. issue 3. 2012-07-26. PMID:22123427. |
methyl-cpg binding protein 2 gene (mecp2) testing is indicated for patients with numerous clinical presentations, including rett syndrome (classic and atypical), unexplained neonatal encephalopathy, angelman syndrome, nonspecific mental retardation, autism (females), and an x-linked family history of developmental delay. |
2012-07-26 |
2023-08-12 |
Not clear |