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TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome.
Ochiai H, Miyamoto T, Kanai A, Hosoba K, Sakuma T, Kudo Y, Asami K, Ogawa A, Watanabe A, Kajii T, Yamamoto T, Matsuura S. Ochiai H, et al. Among authors: matsuura s. Proc Natl Acad Sci U S A. 2014 Jan 28;111(4):1461-6. doi: 10.1073/pnas.1317008111. Epub 2013 Dec 16. Proc Natl Acad Sci U S A. 2014. PMID: 24344301 Free PMC article.
Ciliopathy in PCS (MVA) syndrome.
Miyamoto T, Matsuura S. Miyamoto T, et al. Among authors: matsuura s. Oncotarget. 2015 Sep 22;6(28):24582-3. doi: 10.18632/oncotarget.5244. Oncotarget. 2015. PMID: 26309087 Free PMC article. No abstract available.
Insufficiency of ciliary cholesterol in hereditary Zellweger syndrome.
Miyamoto T, Hosoba K, Itabashi T, Iwane AH, Akutsu SN, Ochiai H, Saito Y, Yamamoto T, Matsuura S. Miyamoto T, et al. Among authors: matsuura s. EMBO J. 2020 Jun 17;39(12):e103499. doi: 10.15252/embj.2019103499. Epub 2020 May 5. EMBO J. 2020. PMID: 32368833 Free PMC article.
899 results