| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Els Schollen, Elisabeth Dequeker, Shirley McQuaid, Bruno Vankeirsbilck, Geneviève Michils, John Harvey, Eric van den Akker, Ron van Schooten, Zandra Clark, Stephan Schrooten, Gert Matthij. Diagnostic DHPLC Quality Assurance (DDQA): a collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories. Human mutation. vol 25. issue 6. 2006-12-15. PMID:15880509. |
we also describe the validation of a disease-specific sop for dhplc assisted mutation screening of the mecp2 gene associated with rett syndrome. |
2006-12-15 |
2023-08-12 |
human |
| P Huppke, E M Maier, A Warnke, C Brendel, F Laccone, J Gärtne. Very mild cases of Rett syndrome with skewed X inactivation. Journal of medical genetics. vol 43. issue 10. 2006-12-04. PMID:16690727. |
rett syndrome, a common cause of mental retardation in females, is caused by mutations in the mecp2 gene. |
2006-12-04 |
2023-08-12 |
Not clear |
| P Huppke, E M Maier, A Warnke, C Brendel, F Laccone, J Gärtne. Very mild cases of Rett syndrome with skewed X inactivation. Journal of medical genetics. vol 43. issue 10. 2006-12-04. PMID:16690727. |
most females with mecp2 mutations fulfil the established clinical criteria for rett syndrome, but single cases of asymptomatic carriers have been described. |
2006-12-04 |
2023-08-12 |
Not clear |
| J C Evans, H L Archer, S D Whatley, A Clark. Germline mosaicism for a MECP2 mutation in a man with two Rett daughters. Clinical genetics. vol 70. issue 4. 2006-11-28. PMID:16965328. |
rett syndrome is a severe neurodevelopmental disorder that is caused by mutations in the x-linked gene, methyl-cpg binding protein 2 (mecp2). |
2006-11-28 |
2023-08-12 |
Not clear |
| H Pan, M-R Li, P Nelson, X-H Bao, X-R Wu, S Y. Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome. Clinical genetics. vol 70. issue 5. 2006-11-20. PMID:17026625. |
large deletions of the mecp2 gene in chinese patients with classical rett syndrome. |
2006-11-20 |
2023-08-12 |
Not clear |
| Hong Wang, Shyue-an Chan, Michael Ogier, David Hellard, Qifang Wang, Corey Smith, David M Kat. Dysregulation of brain-derived neurotrophic factor expression and neurosecretory function in Mecp2 null mice. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 26. issue 42. 2006-11-14. PMID:17050729. |
disruptions in brain-derived neurotrophic factor (bdnf) expression are proposed to contribute to the molecular pathogenesis of rett syndrome (rtt), a severe neurological disorder caused by loss-of-function mutations in methyl-cpg-binding protein-2 (mecp2). |
2006-11-14 |
2023-08-12 |
mouse |
| Mitsuhiro Kat. A new paradigm for West syndrome based on molecular and cell biology. Epilepsy research. vol 70 Suppl 1. 2006-10-26. PMID:16806828. |
although the phenotype of cdkl5 mutation is similar to rett syndrome caused by mecp2 mutation, the former is characterized by early-onset seizures and association with west syndrome. |
2006-10-26 |
2023-08-12 |
human |
| Debra E Weese-Mayer, Steven P Lieske, Christina M Boothby, Anna S Kenny, Heather L Bennett, Jean M Silvestri, Jan-Marino Ramire. Autonomic nervous system dysregulation: breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome. Pediatric research. vol 60. issue 4. 2006-10-24. PMID:16940240. |
this study characterizes cardiorespiratory dysregulation in young girls with mecp2 mutation-confirmed rett syndrome (rs). |
2006-10-24 |
2023-08-12 |
Not clear |
| Aline Quenard, Saliha Yilmaz, Hervé Fontaine, Thierry Bienvenu, Anne Moncla, Vincent des Portes, François Rivier, Michèle Mathieu, Grégory Raux, Philippe Jonveaux, Christophe Philipp. Deleterious mutations in exon 1 of MECP2 in Rett syndrome. European journal of medical genetics. vol 49. issue 4. 2006-09-28. PMID:16829352. |
deleterious mutations in exon 1 of mecp2 in rett syndrome. |
2006-09-28 |
2023-08-12 |
Not clear |
| Aline Quenard, Saliha Yilmaz, Hervé Fontaine, Thierry Bienvenu, Anne Moncla, Vincent des Portes, François Rivier, Michèle Mathieu, Grégory Raux, Philippe Jonveaux, Christophe Philipp. Deleterious mutations in exon 1 of MECP2 in Rett syndrome. European journal of medical genetics. vol 49. issue 4. 2006-09-28. PMID:16829352. |
the mecp2 gene is responsible for 80-85% of typical cases of rett syndrome with deleterious mutations affecting exons 3 and 4. |
2006-09-28 |
2023-08-12 |
Not clear |
| Aline Quenard, Saliha Yilmaz, Hervé Fontaine, Thierry Bienvenu, Anne Moncla, Vincent des Portes, François Rivier, Michèle Mathieu, Grégory Raux, Philippe Jonveaux, Christophe Philipp. Deleterious mutations in exon 1 of MECP2 in Rett syndrome. European journal of medical genetics. vol 49. issue 4. 2006-09-28. PMID:16829352. |
we screened exon 1 of mecp2 for mutations and for large rearrangements in a panel of 212 typical cases of rett syndrome and one family case with atypical rett syndrome. |
2006-09-28 |
2023-08-12 |
Not clear |
| Aline Quenard, Saliha Yilmaz, Hervé Fontaine, Thierry Bienvenu, Anne Moncla, Vincent des Portes, François Rivier, Michèle Mathieu, Grégory Raux, Philippe Jonveaux, Christophe Philipp. Deleterious mutations in exon 1 of MECP2 in Rett syndrome. European journal of medical genetics. vol 49. issue 4. 2006-09-28. PMID:16829352. |
this study confirms that mutations in exon 1 of mecp2 are a rare cause of rett syndrome. |
2006-09-28 |
2023-08-12 |
Not clear |
| Ivan J Delgado, Dong Sun Kim, Karen N Thatcher, Janine M LaSalle, Ignatia B Van den Veyve. Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients. BMC medical genetics. vol 7. 2006-09-26. PMID:16859563. |
more than 85% of rett syndrome (rtt) patients have heterozygous mutations in the x-linked mecp2 gene which encodes methyl-cpg-binding protein 2, a transcriptional repressor that binds methylated cpg sites. |
2006-09-26 |
2023-08-12 |
human |
| Jinglan Liu, Uta Franck. Identification of cis-regulatory elements for MECP2 expression. Human molecular genetics. vol 15. issue 11. 2006-09-21. PMID:16613900. |
rett syndrome (rtt) is an x-linked dominant disabling neurodevelopmental disorder caused by loss of function mutations in the mecp2 gene, located at xq28, which encodes a multifunctional protein. |
2006-09-21 |
2023-08-12 |
mouse |
| Suzanne Cassel, Delphine Carouge, Claire Gensburger, Patrick Anglard, Claude Burgun, Jean-Bernard Dietrich, Dominique Aunis, Jean Zwille. Fluoxetine and cocaine induce the epigenetic factors MeCP2 and MBD1 in adult rat brain. Molecular pharmacology. vol 70. issue 2. 2006-08-28. PMID:16670375. |
mutations within the mecp2 gene have been found to cause rett syndrome, a disorder of arrested neuronal development. |
2006-08-28 |
2023-08-12 |
rat |
| Erika D Nelson, Ege T Kavalali, Lisa M Monteggi. MeCP2-dependent transcriptional repression regulates excitatory neurotransmission. Current biology : CB. vol 16. issue 7. 2006-08-23. PMID:16581518. |
mutations in the transcriptional repressor, methyl-cpg binding protein 2 (mecp2), result in a neurodevelopmental disorder called rett syndrome (rtt) . |
2006-08-23 |
2023-08-12 |
mouse |
| Sailaja Peddada, Dag H Yasui, Janine M LaSall. Inhibitors of differentiation (ID1, ID2, ID3 and ID4) genes are neuronal targets of MeCP2 that are elevated in Rett syndrome. Human molecular genetics. vol 15. issue 12. 2006-08-10. PMID:16682435. |
inhibitors of differentiation (id1, id2, id3 and id4) genes are neuronal targets of mecp2 that are elevated in rett syndrome. |
2006-08-10 |
2023-08-12 |
mouse |
| Sailaja Peddada, Dag H Yasui, Janine M LaSall. Inhibitors of differentiation (ID1, ID2, ID3 and ID4) genes are neuronal targets of MeCP2 that are elevated in Rett syndrome. Human molecular genetics. vol 15. issue 12. 2006-08-10. PMID:16682435. |
rett syndrome (rtt) is an x-linked dominant neurodevelopmental disorder caused by mutations in mecp2, encoding methyl-cpg-binding protein 2. |
2006-08-10 |
2023-08-12 |
mouse |
| Skirmantas Kriaucionis, Andrew Paterson, John Curtis, Jacky Guy, Nikki Macleod, Adrian Bir. Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome. Molecular and cellular biology. vol 26. issue 13. 2006-08-09. PMID:16782889. |
rett syndrome (rtt) is a severe neurological disorder caused by mutations in the x-linked mecp2 gene, which encodes a methyl-cpg binding transcriptional repressor. |
2006-08-09 |
2023-08-12 |
mouse |
| P Kankirawatana, H Leonard, C Ellaway, J Scurlock, A Mansour, C M Makris, L S Dure, M Friez, J Lane, C Kiraly-Borri, V Fabian, M Davis, J Jackson, J Christodoulou, W E Kaufmann, D Ravine, A K Perc. Early progressive encephalopathy in boys and MECP2 mutations. Neurology. vol 67. issue 1. 2006-08-08. PMID:16832102. |
mecp2 mutations mainly occur in females with rett syndrome. |
2006-08-08 |
2023-08-12 |
Not clear |