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ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice.
Aoto K, Kato M, Akita T, Nakashima M, Mutoh H, Akasaka N, Tohyama J, Nomura Y, Hoshino K, Ago Y, Tanaka R, Epstein O, Ben-Haim R, Heyman E, Miyazaki T, Belal H, Takabayashi S, Ohba C, Takata A, Mizuguchi T, Miyatake S, Miyake N, Fukuda A, Matsumoto N, Saitsu H. Aoto K, et al. Among authors: miyazaki t. Nat Commun. 2021 Apr 8;12(1):2107. doi: 10.1038/s41467-021-22389-5. Nat Commun. 2021. PMID: 33833240 Free PMC article.
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination.
Miyamoto S, Nakashima M, Ohashi T, Hiraide T, Kurosawa K, Yamamoto T, Takanashi J, Osaka H, Inoue K, Miyazaki T, Wada Y, Okamoto N, Saitsu H. Miyamoto S, et al. Among authors: miyazaki t. Mol Genet Genomic Med. 2019 Aug;7(8):e814. doi: 10.1002/mgg3.814. Epub 2019 Jun 23. Mol Genet Genomic Med. 2019. PMID: 31231989 Free PMC article.
MC4R mutant mice develop ovarian teratomas.
Naser AA, Miyazaki T, Wang J, Takabayashi S, Pachoensuk T, Tokumoto T. Naser AA, et al. Among authors: miyazaki t. Sci Rep. 2021 Feb 10;11(1):3483. doi: 10.1038/s41598-021-83001-w. Sci Rep. 2021. PMID: 33568756 Free PMC article.
4,308 results