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Journal of Human Genetics|November 1, 2020
A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disordersKohji Kato, Fuyuki Miya, Yasuyoshi Oka, et al.
Frontiers in Oncology|June 17, 2024
MYCN in human development and diseasesYosuke Nishio, Kohji Kato, Hisashi Oishi, et al.
Plos One|August 21, 2019
Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental diseaseYuji Nakamura, Kohji Kato, Naomi Tsuchida, et al.
Bone Reports|October 11, 2022
Two children with hypophosphatasia with a heterozygous c.1559delT variant in the <i>ALPL</i> gene, the most common variant in Japanese populationsHiroshi Kitoh, Masako Izawa, Hiroshi Kaneko, et al.
American Journal of Medical Genetics. Part A|October 21, 2020
Expanding the phenotype of biallelic loss-of-function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complicationsKohji Kato, Seiji Mizuno, Jenny Morton, et al.
Molecular Genetics & Genomic Medicine|January 25, 2020
Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case reportTadashi Nagata, Masaki Matsushita, Kenichi Mishima, et al.
Journal of Human Genetics|April 21, 2019
Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1Keiko Yamamoto-Shimojima, Taichi Imaizumi, Yusuke Aoki, et al.
International Journal of Cardiology|October 19, 2020
Phosphorylated proteome analysis of a novel germline ABL1 mutation causing an autosomal dominant syndrome with ventricular septal defectHidenori Yamamoto, Satoshi Hayano, Yusuke Okuno, et al.
Brain & Development|January 4, 2020
Novel compound heterozygous MCOLN1 mutations identified in a Japanese girl with severe developmental delay and thin corpus callosumNaoya Yamaguchi, Kyoko Ban, Atsushi Suzuki, et al.
Brain & Development|December 16, 2019
Novel biallelic FA2H mutations in a Japanese boy with fatty acid hydroxylase-associated neurodegenerationMasahiro Kawaguchi, Takayuki Sassa, Hiroyuki Kidokoro, et al.
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