| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Walter E Kaufmann, Michael V Johnston, Mary E Blu. MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution. Brain & development. vol 27 Suppl 1. 2006-02-21. PMID:16182491. |
mecp2 expression and function during brain development: implications for rett syndrome's pathogenesis and clinical evolution. |
2006-02-21 |
2023-08-12 |
Not clear |
| Walter E Kaufmann, Michael V Johnston, Mary E Blu. MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution. Brain & development. vol 27 Suppl 1. 2006-02-21. PMID:16182491. |
most cases of rett syndrome (rtt) are associated with mutations of the transcriptional regulator mecp2. |
2006-02-21 |
2023-08-12 |
Not clear |
| Helen Leonard, Hannah Moore, Mary Carey, Susan Fyfe, Sonj Hall, Laila Robertson, Xi Ru Wu, Xinhua Bao, Hong Pan, John Christodoulou, Sarah Williamson, Nick de Kler. Genotype and early development in Rett syndrome: the value of international data. Brain & development. vol 27 Suppl 1. 2006-02-21. PMID:16182492. |
rett syndrome is a neurodevelopmental disorder mostly affecting females and caused by mutations in the mecp2 gene. |
2006-02-21 |
2023-08-12 |
Not clear |
| Dawna Duncan Armstron. Can we relate MeCP2 deficiency to the structural and chemical abnormalities in the Rett brain? Brain & development. vol 27 Suppl 1. 2006-02-21. PMID:16182497. |
the mutated gene for rett syndrome, mecp2, has now been identified in ninety percent of cases. |
2006-02-21 |
2023-08-12 |
mouse |
| Hilde Van Esch, Marijke Bauters, Jaakko Ignatius, Mieke Jansen, Martine Raynaud, Karen Hollanders, Dorien Lugtenberg, Thierry Bienvenu, Lars Riff Jensen, Jozef Gecz, Claude Moraine, Peter Marynen, Jean-Pierre Fryns, Guy Froye. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. American journal of human genetics. vol 77. issue 3. 2006-02-06. PMID:16080119. |
loss-of-function mutations of the mecp2 gene at xq28 are associated with rett syndrome in females and with syndromic and nonsyndromic forms of mental retardation (mr) in males. |
2006-02-06 |
2023-08-12 |
Not clear |
| Le Jian, Hayley L Archer, David Ravine, Alison Kerr, Nick de Klerk, John Christodoulou, Mark E S Bailey, Crystal Laurvick, Helen Leonar. p.R270X MECP2 mutation and mortality in Rett syndrome. European journal of human genetics : EJHG. vol 13. issue 11. 2006-01-23. PMID:16077729. |
p.r270x mecp2 mutation and mortality in rett syndrome. |
2006-01-23 |
2023-08-12 |
human |
| Le Jian, Hayley L Archer, David Ravine, Alison Kerr, Nick de Klerk, John Christodoulou, Mark E S Bailey, Crystal Laurvick, Helen Leonar. p.R270X MECP2 mutation and mortality in Rett syndrome. European journal of human genetics : EJHG. vol 13. issue 11. 2006-01-23. PMID:16077729. |
among cases in the australian rett syndrome database, the nonsense mutation p.r270x is one of the most commonly occurring single pathogenic mecp2 mutations. |
2006-01-23 |
2023-08-12 |
human |
| Le Jian, Hayley L Archer, David Ravine, Alison Kerr, Nick de Klerk, John Christodoulou, Mark E S Bailey, Crystal Laurvick, Helen Leonar. p.R270X MECP2 mutation and mortality in Rett syndrome. European journal of human genetics : EJHG. vol 13. issue 11. 2006-01-23. PMID:16077729. |
only females with rett syndrome and an identified mecp2 mutation were included. |
2006-01-23 |
2023-08-12 |
human |
| Francesca Mari, Sara Azimonti, Ilaria Bertani, Fabrizio Bolognese, Elena Colombo, Rossella Caselli, Elisa Scala, Ilaria Longo, Salvatore Grosso, Chiara Pescucci, Francesca Ariani, Giuseppe Hayek, Paolo Balestri, Anna Bergo, Gianfranco Badaracco, Michele Zappella, Vania Broccoli, Alessandra Renieri, Charlotte Kilstrup-Nielsen, Nicoletta Landsberge. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Human molecular genetics. vol 14. issue 14. 2005-12-21. PMID:15917271. |
cdkl5 belongs to the same molecular pathway of mecp2 and it is responsible for the early-onset seizure variant of rett syndrome. |
2005-12-21 |
2023-08-12 |
Not clear |
| David S Paterson, Eric G Thompson, Richard A Belliveau, Bobbie A Antalffy, Felicia L Trachtenberg, Dawna D Armstrong, Hannah C Kinne. Serotonin transporter abnormality in the dorsal motor nucleus of the vagus in Rett syndrome: potential implications for clinical autonomic dysfunction. Journal of neuropathology and experimental neurology. vol 64. issue 11. 2005-12-15. PMID:16254496. |
autonomic dysfunction is prevalent in girls with rett syndrome, an x-chromosome-linked disorder of mental retardation resulting from mutations in the gene encoding methyl-cpg-binding protein 2 (mecp2). |
2005-12-15 |
2023-08-12 |
mouse |
| David S Paterson, Eric G Thompson, Richard A Belliveau, Bobbie A Antalffy, Felicia L Trachtenberg, Dawna D Armstrong, Hannah C Kinne. Serotonin transporter abnormality in the dorsal motor nucleus of the vagus in Rett syndrome: potential implications for clinical autonomic dysfunction. Journal of neuropathology and experimental neurology. vol 64. issue 11. 2005-12-15. PMID:16254496. |
these data suggest hypotheses concerning 5-ht modulation of vagal function for testing in mecp2 knockout mice to understand mechanisms underlying autonomic dysfunction in patients with rett syndrome. |
2005-12-15 |
2023-08-12 |
mouse |
| Alan K Percy, Jane B Lan. Rett syndrome: model of neurodevelopmental disorders. Journal of child neurology. vol 20. issue 9. 2005-12-06. PMID:16225824. |
rett syndrome is a neurodevelopmental disorder that primarily affects girls, most of whom have mutations in the transcription regulatory gene mecp2. |
2005-12-06 |
2023-08-12 |
Not clear |
| Anna Erlandson, Bengt Hagber. MECP2 abnormality phenotypes: clinicopathologic area with broad variability. Journal of child neurology. vol 20. issue 9. 2005-12-06. PMID:16225826. |
interestingly, other clinical presentations in addition to rett syndrome have been reported to be the results of deviations in mecp2. |
2005-12-06 |
2023-08-12 |
Not clear |
| Anna Erlandson, Bengt Hagber. MECP2 abnormality phenotypes: clinicopathologic area with broad variability. Journal of child neurology. vol 20. issue 9. 2005-12-06. PMID:16225826. |
in conclusion, we feel that it is important to emphasize that rett syndrome is a strictly clinical diagnosis that is not identical to the far broader concept of mecp2 deviations. |
2005-12-06 |
2023-08-12 |
Not clear |
| Peter Huppke, Jutta Gärtne. Molecular diagnosis of Rett syndrome. Journal of child neurology. vol 20. issue 9. 2005-12-06. PMID:16225827. |
in 1999, mutations in the mecp2 gene were identified as the primary cause of rett syndrome. |
2005-12-06 |
2023-08-12 |
Not clear |
| Peter Huppke, Jutta Gärtne. Molecular diagnosis of Rett syndrome. Journal of child neurology. vol 20. issue 9. 2005-12-06. PMID:16225827. |
mecp2 mutations can be found in 70% to 80% of all clinically defined rett syndrome cases; in classic rett syndrome, this frequency is even higher. |
2005-12-06 |
2023-08-12 |
Not clear |
| Peter Huppke, Jutta Gärtne. Molecular diagnosis of Rett syndrome. Journal of child neurology. vol 20. issue 9. 2005-12-06. PMID:16225827. |
in contrast, male individuals with mutations in the mecp2 gene are rare, and only a minority have clinical symptoms resembling rett syndrome. |
2005-12-06 |
2023-08-12 |
Not clear |
| Huda Y Zoghb. MeCP2 dysfunction in humans and mice. Journal of child neurology. vol 20. issue 9. 2005-12-06. PMID:16225828. |
rett syndrome is caused by mutations in mecp2, the gene encoding methyl-cpg binding protein 2. |
2005-12-06 |
2023-08-12 |
mouse |
| Huda Y Zoghb. MeCP2 dysfunction in humans and mice. Journal of child neurology. vol 20. issue 9. 2005-12-06. PMID:16225828. |
in up to 96% of all classic cases, rett syndrome cases are caused by mutations or deletions in mecp2. |
2005-12-06 |
2023-08-12 |
mouse |
| Daniel G Glaz. Neurophysiology of Rett syndrome. Journal of child neurology. vol 20. issue 9. 2005-12-06. PMID:16225829. |
rett syndrome is a neurodevelopmental disorder that in most cases is consequent to a mutation in the mecp2 gene. |
2005-12-06 |
2023-08-12 |
Not clear |