ArticleNeurogenetics2010
Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.
Article in Neurogenetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
36 citing papers in PubMed, 80 citations in OpenAlex.
- Elucidating neuroepigenetic mechanisms to inform targeted therapeutics for brain disorders.iScience · 2025Review
- Evaluation of DNA repair capacity in parents of pediatric patients diagnosed with autism spectrum disorder using the comet assay procedure.IBRO neuroscience reports · 2023Article
- Review
- Editorial: Epigenomic contributions to autism spectrum disorders.Frontiers in neuroscience · 2023Article
- The DNA Methylation in Neurological Diseases.Cells · 2022Review
- Beyond the marks: reader-effectors as drivers of epigenetics and chromatin engineering.Trends in biochemical sciences · 2022Review
- Proteins That Read DNA Methylation.Advances in experimental medicine and biology · 2022Article
- Chromatin remodelling complexes in cerebral cortex development and neurodevelopmental disorders.Neurochemistry international · 2021Article
- Chromatin Remodeling in the Brain-aInternational journal of molecular sciences · 2021Review
- The Epigenome in Neurodevelopmental Disorders.Frontiers in neuroscience · 2021Review
- Expression Changes in Epigenetic Gene Pathways Associated With One-Carbon Nutritional Metabolites in Maternal Blood From Pregnancies Resulting in Autism and Non-Typical Neurodevelopment.Autism research : official journal of the International Society for Autism Research · 2021Article
- Quantitative proteomic analysis of Rett iPSC-derived neuronal progenitors.Molecular autism · 2020Article
- MKRN3 regulates the epigenetic switch of mammalian puberty via ubiquitination of MBD3.National science review · 2020Article
- Regulation of neuronal connectivity in the mammalian brain by chromatin remodeling.Current opinion in neurobiology · 2019Review
- DNA Methylation and Susceptibility to Autism Spectrum Disorder.Annual review of medicine · 2019Review
- DNA Methylation and Adult Neurogenesis.Brain plasticity (Amsterdam, Netherlands) · 2017Review
- Methyl-CpG-Binding Protein MBD1 Regulates Neuronal Lineage Commitment through Maintaining Adult Neural Stem Cell Identity.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017Article
- MBD3 expression and DNA binding patterns are altered in a rat model of temporal lobe epilepsy.Scientific reports · 2016Article
- The landscape of DNA methylation amid a perfect storm of autism aetiologies.Nature reviews. Neuroscience · 2016Review
- Genetics and Epigenetics in Adult Neurogenesis.Cold Spring Harbor perspectives in biology · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
Misregulation of the methyl-CpG-binding protein 2 (MECP2) gene has been found to cause a myriad of neurological disorders including autism, mental retardation, seizures, learning disabilities, and Rett syndrome. We hypothesized that mutations in other members of the methyl-CpG-binding domain (MBD) family may also cause autistic features in individuals. We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4. A total of 46 alterations were identified in the four genes, including ten missense changes and two deletions that alter coding sequence. Several are either unique to our autistic population or cosegregate with affected individuals within a family, suggesting a possible relation of these variations to disease etiology. Variants include a R23M alteration in two affected half brothers which falls within the MBD domain of the MBD3 protein, as well as a frameshift in MBD4 that is predicted to truncate almost half of the protein. These results suggest that rare cases of autism may be influenced by mutations in members of the dynamic MBD protein family.
Indexed as
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.