Results 231 to 240 of about 33,901 (278)

Investigating the MeCP2 (E1/E2) regulatory network in the human control and Rett syndrome brain

, 2018
Shervin Pejhan
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Translational reading frame determines the pathogenicity of C-terminal frameshift deletions in MeCP2: an alternative therapeutic approach

Guy J, Hein E, Alexander-Howden B, von Bock und Polach T, Mathieson T, Kleinstiver BP, Zoghbi H, Bird A.   +7 more
europepmc   +1 more source

Phenotypic characterization of a mouse model of Rett syndrome reveals pubertal dysregulation and hypothalamic-gonadal dysfunction

Martín-Sánchez A, Esteve-Pérez R, Jiménez-Díaz D, Vasile-Tudorache A, Read JE, Howard SR, Agustín-Pavón C.   +6 more
europepmc   +1 more source

Biochemical analysis of MeCP2

, 2005
openaire   +1 more source

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MeCP2 for sustained antidepressant effects

Nature Neuroscience, 2021
Ketamine has transformed the treatment of depression by providing rapid relief from depressive symptoms, but the mechanisms mediating its long-term effects are unclear. Kim et al. show that MeCP2 signaling in the hippocampus is critical for supporting sustained antidepressant effects.
Shane Johnson, Conor Liston
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MECP2 Dysautonomia Phenotypes in Boys

Pediatric Neurology, 2022
Recognizing and identifying dysautonomia would facilitate the diagnosis and management of MECP2 mutations in boys. We aimed to explore the prevalence of dysautonomia symptoms in boys with MECP2 mutations.We conducted a national, retrospective study (2000-2020) of medical records from boys who were aged less than 18 years when diagnosed with a ...
Lisa Courgeon, Kévin Uguen, Jérémie Lefranc, Gaetan Lesca, Juliette Ropars   +4 more
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MECP2-Related Disorders and Epilepsy Phenotypes

Journal of Pediatric Neurology, 2021
Abstract MECP2 (methyl-CpG binding protein-2) gene, located on chromosome Xq28, encodes for a protein particularly abundant in the brain that is required for maturation of astrocytes and neurons and is developmentally regulated. A defective homeostasis of MECP2 expression, either by haploinsufficiency or overexpression, leads to a ...
Sauna A., Sciuto L., Criscione R., Messina G., Presti S., Soma R., Oliva C., Salafia S., Falsaperla R.   +8 more
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MECP2 duplication syndrome

Molecular syndromology
Since the initial report that clearly established a causal role between duplication of the MECP2 gene and a severe syndromic form of intellectual disability, many new patients have been identified and reported, and the etiology in already published families solved. This has led to the establishment of a clinically recognizable disorder. Here, we review
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