Associated Papers
Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila.
Chen E et al.
Genetics, 2025
40546018 (PubMed )
Supplement: iyaf121_supplementary_data.zip › Supplemental_Data_1_GENETICS-2025-308053.xlsx › Fly_stocks
Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders.
Bach S et al.
Scientific Reports, 2020
33335218 (PubMed )
Supplement: 41598_2020_79268_MOESM1_ESM.xlsx › Table_S4
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 › 136
Detection of Rare Methyl-CpG Binding Protein 2 Gene Missense Mutations in Patients With Schizophrenia.
Chen CH et al.
Frontiers in Genetics, 2020
MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro.
Sheikh TI et al.
Human Mutation, 2018
Disruption of AT-hook 1 domain in MeCP2 protein caused behavioral abnormality in mice.
Xu M et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018
MECP2, a gene associated with Rett syndrome in humans, shows conserved coding regions, independent Alu insertions, and a novel transcript across primate evolution.
Viana MC et al.
Bmc Genetics, 2015
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism.
Shibayama A et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2004
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
Miltenberger-Miltenyi G et al.
Human Mutation, 2003
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?
Winnepenninckx B et al.
Human Mutation, 2002
Low frequency of MECP2 mutations in mentally retarded males.
Yntema HG et al.
European Journal of Human Genetics : Ejhg, 2002
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