Associated Papers
Using Precision Medicine to Disentangle Genotype-Phenotype Relationships in Twins with Rett Syndrome: A Case Report.
Singh J et al.
Current Issues in Molecular Biology, 2024
Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients.
Sharaf-Eldin WE et al.
Journal, Genetic Engineering & Biotechnology, 2022
Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology.
Enikanolaiye A et al.
Genome Research, 2020
32317254 (PubMed )
Supplement: supp_gr.258400.119_Supplemental_Table_S1_.xlsx › M_199LL
MicroRNA-197 controls ADAM10 expression to mediate MeCP2's role in the differentiation of neuronal progenitors.
Wang YM et al.
Cell Death and Differentiation, 2019
First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation.
Ghorbel R et al.
Biochemical and Biophysical Research Communications, 2018
Imprinting status of paternally imprinted DLX5 gene in Japanese patients with Rett syndrome.
Itaba-Matsumoto N et al.
Brain & Development, 2007
Mutation analysis of methyl-CpG binding protein family genes in autistic patients.
Li H et al.
Brain & Development, 2005
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