| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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. |
briefly, sequencing of exons 1 to 4 of mecp2 is recommended for patients with a rett syndrome phenotype, unexplained neonatal encephalopathy, an angelman syndrome phenotype (with negative 15q11-13 analysis), nonspecific mental retardation, or autism (females). |
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. |
additional testing for large-scale mecp2 deletions is recommended for patients with rett syndrome or angelman syndrome phenotypes (with negative 15q11-13 analysis) following negative sequencing. |
2012-07-26 |
2023-08-12 |
Not clear |
| A Vermehren-Schmaedick, V K Jenkins, S J Knopp, A Balkowiec, J M Bissonnett. Acute intermittent hypoxia-induced expression of brain-derived neurotrophic factor is disrupted in the brainstem of methyl-CpG-binding protein 2 null mice. Neuroscience. vol 206. 2012-07-18. PMID:22297041. |
rett syndrome is a neurodevelopmental disorder caused by loss-of-function mutations in the gene encoding the transcription factor methyl-cpg-binding protein 2 (mecp2). |
2012-07-18 |
2023-08-12 |
mouse |
| Wei Wu, Weizhong Gu, Xuefeng Xu, Shiqiang Shang, Zhengyan Zha. Downregulation of CNPase in a MeCP2 deficient mouse model of Rett syndrome. Neurological research. vol 34. issue 2. 2012-07-18. PMID:22334035. |
downregulation of cnpase in a mecp2 deficient mouse model of rett syndrome. |
2012-07-18 |
2023-08-12 |
mouse |
| Wei Wu, Weizhong Gu, Xuefeng Xu, Shiqiang Shang, Zhengyan Zha. Downregulation of CNPase in a MeCP2 deficient mouse model of Rett syndrome. Neurological research. vol 34. issue 2. 2012-07-18. PMID:22334035. |
to investigate the possible target genes of methyl-cpg-binding protein 2 (mecp2) that contribute to rett syndrome (rtt). |
2012-07-18 |
2023-08-12 |
mouse |
| Masayuki Itoh, Candice G T Tahimic, Shuhei Ide, Akihiro Otsuki, Toshikuni Sasaoka, Shigeru Noguchi, Mitsuo Oshimura, Yu-ichi Goto, Akihiro Kurimas. Methyl CpG-binding protein isoform MeCP2_e2 is dispensable for Rett syndrome phenotypes but essential for embryo viability and placenta development. The Journal of biological chemistry. vol 287. issue 17. 2012-07-17. PMID:22375006. |
methyl cpg-binding protein 2 gene (mecp2) mutations are implicated in rett syndrome (rtt), one of the common causes of female mental retardation. |
2012-07-17 |
2023-08-12 |
Not clear |
| Juliette Nectoux, Cedrick Florian, Chloe Delepine, Nadia Bahi-Buisson, Malik Khelfaoui, Sophie Reibel, Jamel Chelly, Thierry Bienven. Altered microtubule dynamics in Mecp2-deficient astrocytes. Journal of neuroscience research. vol 90. issue 5. 2012-07-16. PMID:22252744. |
rett syndrome (rtt) is a severe neurodevelopmental disorder caused by mutations in the gene mecp2 encoding the methyl-cpg binding protein 2. |
2012-07-16 |
2023-08-12 |
mouse |
| Fernando Vonhoff, Alison Williams, Stefanie Ryglewski, Carsten Duc. Drosophila as a model for MECP2 gain of function in neurons. PloS one. vol 7. issue 2. 2012-06-29. PMID:22363746. |
in humans loss of mecp2 function causes classic rett syndrome, but gain of mecp2 function also causes mental retardation. |
2012-06-29 |
2023-08-12 |
mouse |
| Basil Cardoza, Angus Clarke, Jodie Wilcox, Frances Gibbon, Phil E M Smith, Hayley Archer, Anna Hryniewiecka-Jaworska, Mike Ker. Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice. Seizure. vol 20. issue 8. 2012-06-18. PMID:21764336. |
to investigate the association between genotype (methyl-cpg-binding protein 2 (mecp2 gene mutation)) and epileptic seizure phenotype in rett syndrome. |
2012-06-18 |
2023-08-12 |
Not clear |
| Sebastian Braun, Denise Kottwitz, Ulrike A Nube. Pharmacological interference with the glucocorticoid system influences symptoms and lifespan in a mouse model of Rett syndrome. Human molecular genetics. vol 21. issue 8. 2012-06-18. PMID:22186023. |
rett syndrome (rtt) is caused by loss-of-function mutations in the x-linked gene mecp2 coding for methyl cpg-binding protein 2 (mecp2). |
2012-06-18 |
2023-08-12 |
mouse |
| Janine M LaSalle, Dag H Yasu. Evolving role of MeCP2 in Rett syndrome and autism. Epigenomics. vol 1. issue 1. 2012-06-12. PMID:20473347. |
evolving role of mecp2 in rett syndrome and autism. |
2012-06-12 |
2023-08-12 |
Not clear |
| Janine M LaSalle, Dag H Yasu. Evolving role of MeCP2 in Rett syndrome and autism. Epigenomics. vol 1. issue 1. 2012-06-12. PMID:20473347. |
rett syndrome is an x-linked autism-spectrum disorder caused by mutations in mecp2, encoding methyl cpg-binding protein 2. |
2012-06-12 |
2023-08-12 |
Not clear |
| Janine M LaSalle, Dag H Yasu. Evolving role of MeCP2 in Rett syndrome and autism. Epigenomics. vol 1. issue 1. 2012-06-12. PMID:20473347. |
since the discovery of mecp2 mutations as the genetic cause of rett syndrome, the understanding of mecp2 function has evolved. |
2012-06-12 |
2023-08-12 |
Not clear |
| Janine M LaSalle, Dag H Yasu. Evolving role of MeCP2 in Rett syndrome and autism. Epigenomics. vol 1. issue 1. 2012-06-12. PMID:20473347. |
this review compares the evolution of thought within two ‘classic’ epigenetic mechanisms of parental imprinting and x chromosome inactivation to that of the mecp2 field, and considers the future relevance of integrated epigenomic databases to understanding autism and rett syndrome. |
2012-06-12 |
2023-08-12 |
Not clear |
| B L Pearson, E B Defensor, R L H Pobbe, L H L Yamamoto, V J Bolivar, D C Blanchard, R J Blanchar. Mecp2 truncation in male mice promotes affiliative social behavior. Behavior genetics. vol 42. issue 2. 2012-05-25. PMID:21909962. |
mouse models of rett syndrome, with targeted mutations in the mecp2 gene, show a high degree of phenotypic consistency with the clinical syndrome. |
2012-05-25 |
2023-08-12 |
mouse |
| Peter J Gianakopoulos, Yuzhi Zhang, Nela Pencea, Marija Orlic-Milacic, Kirti Mittal, Christian Windpassinger, Sara-Jane White, Peter M Kroisel, Eva W C Chow, Carol J Saunders, Berge A Minassian, John B Vincen. Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 159B. issue 2. 2012-05-22. PMID:22213695. |
the overwhelming majority of rett syndrome cases are caused by mutations in the gene mecp2. |
2012-05-22 |
2023-08-12 |
Not clear |
| Jean-Christophe Roux, Diana Zala, Nicolas Panayotis, Ana Borges-Correia, Frédéric Saudou, Laurent Villar. Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1 pathway. Neurobiology of disease. vol 45. issue 2. 2012-05-18. PMID:22127389. |
mecp2 deficiency or overexpression causes a wide spectrum of neurological diseases in humans among which rett syndrome is the prototype. |
2012-05-18 |
2023-08-12 |
mouse |
| A M Palmer, A L Degano, M J Park, S Ramamurthy, G V Ronnet. Normal mitral cell dendritic development in the setting of Mecp2 mutation. Neuroscience. vol 202. 2012-05-18. PMID:22138506. |
rett syndrome (rtt) is an autism spectrum disorder caused by mutation in the gene encoding methyl cpg binding protein 2 (mecp2). |
2012-05-18 |
2023-08-12 |
mouse |
| Meir Lotan, Rony Schenker, Judy Wine, Jenny Down. The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study. Developmental neurorehabilitation. vol 15. issue 1. 2012-05-17. PMID:22256830. |
rett syndrome (rtt) is a neurological disorder usually associated with a mutation in the mecp2 gene. |
2012-05-17 |
2023-08-12 |
Not clear |
| Gordon M G Shepherd, David M Kat. Synaptic microcircuit dysfunction in genetic models of neurodevelopmental disorders: focus on Mecp2 and Met. Current opinion in neurobiology. vol 21. issue 6. 2012-04-23. PMID:21733672. |
we review recent progress in this area, focusing on two examples of mouse models of autism spectrum disorders (asds): mecp2 models of rett syndrome, and a met-knockout model of non-syndromic forms of autism. |
2012-04-23 |
2023-08-12 |
mouse |