| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Renzo Guerrini, Elena Parrin. Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. Epilepsia. vol 53. issue 12. 2013-02-01. PMID:22998673. |
diagnostic criteria have been modified only slightly over time, even after discovering that mecp2 gene alterations are present in >90% of patients with typical rett syndrome but only in 50-70% of atypical cases. |
2013-02-01 |
2023-08-12 |
Not clear |
| Morteza Yazdani, Rubén Deogracias, Jacky Guy, Raymond A Poot, Adrian Bird, Yves-Alain Bard. Disease modeling using embryonic stem cells: MeCP2 regulates nuclear size and RNA synthesis in neurons. Stem cells (Dayton, Ohio). vol 30. issue 10. 2013-01-31. PMID:22865604. |
mutations in the gene encoding the methyl-cpg-binding protein mecp2 are the major cause of rett syndrome, an autism spectrum disorder mainly affecting young females. |
2013-01-31 |
2023-08-12 |
mouse |
| Val Zvereff, Lori Carpenter, Dagny Patton, Huong Cabral, Debra Rita, Ashley Wilson, Kwame Anyane-Yeboa, Larry White, Kenneth J Friedma. Molecular diagnostic dilemmas in Rett syndrome. Brain & development. vol 34. issue 9. 2013-01-28. PMID:22277191. |
rett syndrome (omim 312750) is a progressive, x-linked neurodevelopmental disorder caused by mutations in the mecp2 gene located on chromosome xq28. |
2013-01-28 |
2023-08-12 |
Not clear |
| Val Zvereff, Lori Carpenter, Dagny Patton, Huong Cabral, Debra Rita, Ashley Wilson, Kwame Anyane-Yeboa, Larry White, Kenneth J Friedma. Molecular diagnostic dilemmas in Rett syndrome. Brain & development. vol 34. issue 9. 2013-01-28. PMID:22277191. |
in this study we summarize the results of diagnostic testing of 30 patients with rett syndrome (rtt) or mental retardation of unknown etiology using bidirectional sequencing of the open reading frame of the mecp2 gene. |
2013-01-28 |
2023-08-12 |
Not clear |
| Kathleen J Motil, Erwin Caeg, Judy O Barrish, Suzanne Geerts, Jane B Lane, Alan K Percy, Fran Annese, Lauren McNair, Steven A Skinner, Hye-Seung Lee, Jeffrey L Neul, Daniel G Glaz. Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome. Journal of pediatric gastroenterology and nutrition. vol 55. issue 3. 2013-01-03. PMID:22331013. |
we conducted a nationwide survey to determine the prevalence of common gastrointestinal and nutritional disorders in rett syndrome (rtt) based on parental reporting and related the occurrence of these problems to age and methyl-cpg-binding protein 2 (mecp2) gene status. |
2013-01-03 |
2023-08-12 |
Not clear |
| Wei Li, Gaston Calfa, Jennifer Larimore, Lucas Pozzo-Mille. Activity-dependent BDNF release and TRPC signaling is impaired in hippocampal neurons of Mecp2 mutant mice. Proceedings of the National Academy of Sciences of the United States of America. vol 109. issue 42. 2012-12-31. PMID:23027959. |
dysfunction of the neurotrophin brain-derived neurotrophic factor (bdnf) is implicated in rett syndrome (rtt), but the state of its releasable pool and downstream signaling in mice lacking methyl-cpg-binding protein-2 (mecp2) is unknown. |
2012-12-31 |
2023-08-12 |
mouse |
| Ami Bebbington, Jenny Downs, Alan Percy, Mercé Pineda, Bruria Ben Zeev, Nadia Bahi-Buisson, Helen Leonar. The phenotype associated with a large deletion on MECP2. European journal of human genetics : EJHG. vol 20. issue 9. 2012-12-26. PMID:22473088. |
multiplex ligation-dependent probe amplification (mlpa) has become available for the detection of a large deletion on the mecp2 gene allowing genetic confirmation of previously unconfirmed cases of clinical rett syndrome. |
2012-12-26 |
2023-08-12 |
Not clear |
| Hélène Cheval, Jacky Guy, Cara Merusi, Dina De Sousa, Jim Selfridge, Adrian Bir. Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows. Human molecular genetics. vol 21. issue 17. 2012-12-14. PMID:22653753. |
rett syndrome is a neurological disorder caused by mutations in the x-linked mecp2 gene. |
2012-12-14 |
2023-08-12 |
mouse |
| Rubén Deogracias, Morteza Yazdani, Martijn P J Dekkers, Jacky Guy, Mihai Constantin S Ionescu, Kaspar E Vogt, Yves-Alain Bard. Fingolimod, a sphingosine-1 phosphate receptor modulator, increases BDNF levels and improves symptoms of a mouse model of Rett syndrome. Proceedings of the National Academy of Sciences of the United States of America. vol 109. issue 35. 2012-12-11. PMID:22891354. |
mice lacking mecp2, a gene frequently mutated in rett syndrome, show decreased levels of bdnf, and fingolimod administration was found to partially rescue these levels as well as the size of the striatum, a volumetric sensor of bdnf signaling in rodents. |
2012-12-11 |
2023-08-12 |
mouse |
| Lianne Robinson, Jacky Guy, Leanne McKay, Emma Brockett, Rosemary C Spike, Jim Selfridge, Dina De Sousa, Cara Merusi, Gernot Riedel, Adrian Bird, Stuart R Cob. Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome. Brain : a journal of neurology. vol 135. issue Pt 9. 2012-12-05. PMID:22525157. |
rett syndrome is a neurological disorder caused by mutation of the x-linked mecp2 gene. |
2012-12-05 |
2023-08-12 |
mouse |
| Xiaofen Zhong, Hongda Li, Qiang Chan. MeCP2 phosphorylation is required for modulating synaptic scaling through mGluR5. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 32. issue 37. 2012-11-28. PMID:22973007. |
the functional significance of mecp2 to the mammalian nervous system is highlighted by the discovery that mutations in the mecp2 gene cause rett syndrome (rtt), a devastating neurological disease that shares many features with autism. |
2012-11-28 |
2023-08-12 |
mouse |
| Loredana Zocchi, Paolo Sassone-Cors. SIRT1-mediated deacetylation of MeCP2 contributes to BDNF expression. Epigenetics. vol 7. issue 7. 2012-11-12. PMID:22677942. |
mutations in the mecp2 gene have been associated to rett syndrome, a human neurodevelopmental disorder. |
2012-11-12 |
2023-08-12 |
human |
| Yu Kobayashi, Tsukasa Ohashi, Noriyuki Akasaka, Jun Tohyam. Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2. Brain & development. vol 34. issue 7. 2012-11-08. PMID:22001500. |
congenital variant of rett syndrome due to an intragenic large deletion in mecp2. |
2012-11-08 |
2023-08-12 |
Not clear |
| Minh Vu Chuong Nguyen, Fang Du, Christy A Felice, Xiwei Shan, Aparna Nigam, Gail Mandel, John K Robinson, Nurit Balla. MeCP2 is critical for maintaining mature neuronal networks and global brain anatomy during late stages of postnatal brain development and in the mature adult brain. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 32. issue 29. 2012-10-24. PMID:22815516. |
mutations in the x-linked gene, methyl-cpg binding protein 2 (mecp2), underlie a wide range of neuropsychiatric disorders, most commonly, rett syndrome (rtt), a severe autism spectrum disorder that affects approximately one in 10,000 female live births. |
2012-10-24 |
2023-08-12 |
mouse |
| Stavroula Psoni, Christalena Sofocleous, Joanne Traeger-Synodinos, Sophia Kitsiou-Tzeli, Emmanuel Kanavakis, Helen Fryssira-Kaniour. MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders. Brain & development. vol 34. issue 6. 2012-10-12. PMID:21982064. |
mecp2 mutations and clinical correlations in greek children with rett syndrome and associated neurodevelopmental disorders. |
2012-10-12 |
2023-08-12 |
Not clear |
| Stavroula Psoni, Christalena Sofocleous, Joanne Traeger-Synodinos, Sophia Kitsiou-Tzeli, Emmanuel Kanavakis, Helen Fryssira-Kaniour. MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders. Brain & development. vol 34. issue 6. 2012-10-12. PMID:21982064. |
mutations in the mecp2 gene (methyl-cpg-binding protein-2) are responsible for 60-95% of cases of rett syndrome (rtt), an x-linked dominant neurodevelopmental disorder affecting mostly girls. |
2012-10-12 |
2023-08-12 |
Not clear |
| Aaron Y L Cheung, Lindsay M Horvath, Laura Carrel, James Elli. X-chromosome inactivation in rett syndrome human induced pluripotent stem cells. Frontiers in psychiatry. vol 3. 2012-10-02. PMID:22470355. |
rett syndrome (rtt) is a neurodevelopmental disorder that affects girls due primarily to heterozygous mutations in the x-linked gene encoding methyl-cpg binding protein 2 (mecp2). |
2012-10-02 |
2023-08-12 |
human |
| Abhishek Banerjee, Jorge Castro, Mriganka Su. Rett syndrome: genes, synapses, circuits, and therapeutics. Frontiers in psychiatry. vol 3. 2012-10-02. PMID:22586411. |
rett syndrome (rtt) is a neurological disorder of genetic origin, caused by mutations in the x-linked gene methyl-cpg binding protein 2 (mecp2). |
2012-10-02 |
2023-08-12 |
Not clear |
| Tiziana Squillaro, Nicola Alessio, Marilena Cipollaro, Mariarosa Anna Beatrice Melone, Giuseppe Hayek, Alessandra Renieri, Antonio Giordano, Umberto Galderis. Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence: new perspective for Rett syndrome. Molecular biology of the cell. vol 23. issue 8. 2012-09-28. PMID:22357617. |
reduced expression of mecp2 affects cell commitment and maintenance in neurons by triggering senescence: new perspective for rett syndrome. |
2012-09-28 |
2023-08-12 |
human |
| Tiziana Squillaro, Nicola Alessio, Marilena Cipollaro, Mariarosa Anna Beatrice Melone, Giuseppe Hayek, Alessandra Renieri, Antonio Giordano, Umberto Galderis. Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence: new perspective for Rett syndrome. Molecular biology of the cell. vol 23. issue 8. 2012-09-28. PMID:22357617. |
the mechanism by which impaired mecp2 activity can induce pathological abnormalities in the nervous system of patients with rett syndrome (rtt) is not clearly understood. |
2012-09-28 |
2023-08-12 |
human |