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Biochemical and Biophysical Research Communications|May 5, 2019
Renal medullary tonicity regulates RNF183 expression in the collecting ducts via NFAT5Yujiro Maeoka, Takumi Okamoto, Yan Wu, et al.
Journal of Inherited Metabolic Disease|October 9, 2024
Genetically humanized phenylketonuria mouse model as a testing tool for human genome editing in fertilized eggsAtsumi Tsuji-Hosokawa, Iku Tsuchiya, Kie Shimizu, et al.
American Journal of Medical Genetics. Part A|January 5, 2021
Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex developmentKikumi Ushijima, Yuya Ogawa, Miho Terao, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 28, 2022
Turnover of mammal sex chromosomes in the Sry-deficient Amami spiny rat is due to male-specific upregulation of Sox9Miho Terao, Yuya Ogawa, Shuji Takada, et al.
Communications Biology|September 15, 2022
Tmsb10 triggers fetal Leydig differentiation by suppressing the RAS/ERK pathwayMiki Inoue, Takashi Baba, Fumiya Takahashi, et al.
Journal of the American Society of Nephrology : JASN|April 10, 2019
Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate AntidiuresisMami Miyado, Maki Fukami, Shuji Takada, et al.
Human Molecular Genetics|February 28, 2023
Integrator complex subunit 15 controls mRNA splicing and is critical for eye developmentNoriyuki Azuma, Tadashi Yokoi, Taku Tanaka, et al.
Intestinal Research|April 4, 2025
Inflammatory bowel disease in a young female patient with a novel de novo TRAF3 frameshift variant responsive to ustekinumab: a case reportIchiro Takeuchi, Kosuke Taniguchi, Katsuhiro Arai, et al.
Genetics in Medicine Open|December 13, 2024
Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndromeTomoko Kawai, Shiori Kinoshita, Yuka Takayama, et al.
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