Genomes and Genes
Affiliation: Nagoya University
- Ito K, Ohkawara B, Yagi H, Nakashima H, Tsushima M, Ota K, et al. Lack of Fgf18 causes abnormal clustering of motor nerve terminals at the neuromuscular junction with reduced acetylcholine receptor clusters. Sci Rep. 2018;8:434 pubmed publisher..In C2C12 myotubes, FGF18 enhanced AChR clustering, which was blocked by inhibiting FGFRs or MEK1. We propose that FGF18 plays a pivotal role in AChR clustering and NMJ formation in mouse embryogenesis. ..
- Ohno K, Tsujino A, Shen X, Milone M, Engel A. Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries. J Med Genet. 2005;42:e53 pubmed..Only three of the eight intronic splice site mutations of CHRNE reported to date have had their splicing consequences characterised...
- Ohno K, Engel A. Splicing abnormalities in congenital myasthenic syndromes. Acta Myol. 2005;24:50-4 pubmed..Splicing mutations may be more frequent than suspected, and one must always be aware of possible splicing abnormalities when analyzing human mutations...
- Gao K, Wang J, Li L, Zhai Y, Ren Y, You H, et al. Polymorphisms in Four Genes (KCNQ1 rs151290, KLF14 rs972283, GCKR rs780094 and MTNR1B rs10830963) and Their Correlation with Type 2 Diabetes Mellitus in Han Chinese in Henan Province, China. Int J Environ Res Public Health. 2016;13: pubmed publisher..The AC and CC genotypes and the C allele of rs151290 in KCNQ1 may be risk factors for T2DM in Han Chinese in Henan province. ..
- Takegami Y, Ohkawara B, Ito M, Masuda A, Nakashima H, Ishiguro N, et al. R-spondin 2 facilitates differentiation of proliferating chondrocytes into hypertrophic chondrocytes by enhancing Wnt/Î²-catenin signaling in endochondral ossification. Biochem Biophys Res Commun. 2016;473:255-264 pubmed publisher..We propose that Rspo2 activates Wnt/Î²-catenin signaling to reduce Col2a1 and Sox9 and to facilitate differentiation of proliferating chondrocytes into hypertrophic chondrocytes in growth cartilage. ..
- Takeda J, Masuda A, Ohno K. Six GU-rich (6GUR) FUS-binding motifs detected by normalization of CLIP-seq by Nascent-seq. Gene. 2017;618:57-64 pubmed publisher..We propose that the 6GUR motifs predict FUS-binding sites more efficiently than previously reported individual motifs or 15 motifs in SpliceAid 2. ..