Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
Warning: file_get_contents(http://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=17988628&cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests
in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 445
 
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve
Pubget Overpricing |  
lüll
The story of Rett syndrome: from clinic to neurobiology Chahrour M; Zoghbi HYNeuron 2007[Nov]; 56 (3): 422-37The postnatal neurodevelopmental disorder Rett syndrome (RTT) is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MeCP2), a transcriptional repressor involved in chromatin remodeling and the modulation of RNA splicing. MECP2 aberrations result in a constellation of neuropsychiatric abnormalities, whereby both loss of function and gain in MECP2 dosage lead to similar neurological phenotypes. Recent studies demonstrate disease reversibility in RTT mouse models, suggesting that the neurological defects in MECP2 disorders are not permanent. To investigate the potential for restoring neuronal function in RTT patients, it is essential to identify MeCP2 targets or modifiers of the phenotype that can be therapeutically modulated. Moreover, deciphering the molecular underpinnings of RTT is likely to contribute to the understanding of the pathogenesis of a broader class of neuropsychiatric disorders.|Adolescent[MESH]|Animals[MESH]|Brain/*metabolism/physiopathology[MESH]|Child[MESH]|Child, Preschool[MESH]|Disease Models, Animal[MESH]|Female[MESH]|Gene Expression Regulation/genetics[MESH]|Genetic Predisposition to Disease/*genetics[MESH]|Humans[MESH]|Infant[MESH]|Male[MESH]|Methyl-CpG-Binding Protein 2/*genetics[MESH]|Mice[MESH]|Mutation/*genetics[MESH]|Phenotype[MESH]|Rett Syndrome/*genetics/*metabolism/physiopathology[MESH]|X Chromosome Inactivation/genetics[MESH] |
