Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
2024 · The American Journal of Human Genetics · 16 citations
https://doi.org/10.1016/j.ajhg.2024.06.008
A
Ayumi Yamada
Pioneer (Japan)(JP)
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Ayumi Yamada is an academic researcher from Pioneer (Japan). The author has contributed to research in topics: DNA Repair Mechanisms & Epigenetics and DNA Methylation & Carcinogens and Genotoxicity Assessment. The author has an h-index of 18, co-authored 40 publications.
ORCID: 0000-0002-6085-8928Papers by this author
worksDerepression of inflammation-related genes link to microglia activation and neural maturation defect in a mouse model of Kleefstra syndrome
2021 · iScience · 11 citations
https://doi.org/10.1016/j.isci.2021.102741
Mammalian HEMK1 methylates glutamine residue of the GGQ motif of mitochondrial release factors
2022 · Scientific Reports · 9 citations
https://doi.org/10.1038/s41598-022-08061-y
Derepression of inflammation-related genes link to microglia activation and neural maturation defect in a mouse model of Kleefstra syndrome
2021 · iScience · 1 citations
https://doi.org/10.1016/j.isci.2021.103253
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