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Clinical, Pathological, and Genetic Characteristics in Patients with Focal Segmental Glomerulosclerosis.
Nagano C, Hara S, Yoshikawa N, Takeda A, Gotoh Y, Hamada R, Matsuoka K, Yamamoto M, Fujinaga S, Sakuraya K, Kamei K, Hamasaki Y, Oguchi H, Araki Y, Ogawa Y, Okamoto T, Ito S, Tanaka S, Kaito H, Aoto Y, Ishiko S, Rossanti R, Sakakibara N, Horinouchi T, Yamamura T, Nagase H, Iijima K, Nozu K. Nagano C, et al. Among authors: hara s. Kidney360. 2022 May 24;3(8):1384-1393. doi: 10.34067/KID.0000812022. eCollection 2022 Aug 25. Kidney360. 2022. PMID: 36176665 Free PMC article.
Pair analysis and custom array CGH can detect a small copy number variation in COQ6 gene.
Nakanishi K, Okamoto T, Nozu K, Hara S, Sato Y, Hayashi A, Takahashi T, Nagano C, Sakakibara N, Horinouchi T, Fujimura J, Minamikawa S, Yamamura T, Rossanti R, Nagase H, Kaito H, Ariga T, Iijima K. Nakanishi K, et al. Among authors: hara s. Clin Exp Nephrol. 2019 May;23(5):669-675. doi: 10.1007/s10157-018-1682-z. Epub 2018 Dec 24. Clin Exp Nephrol. 2019. PMID: 30584653
Molecular mechanisms determining severity in patients with Pierson syndrome.
Minamikawa S, Miwa S, Inagaki T, Nishiyama K, Kaito H, Ninchoji T, Yamamura T, Nagano C, Sakakibara N, Ishimori S, Hara S, Yoshikawa N, Hirano D, Harada R, Hamada R, Matsunoshita N, Nagata M, Shima Y, Nakanishi K, Nagase H, Takeda H, Morisada N, Iijima K, Nozu K. Minamikawa S, et al. Among authors: hara s. J Hum Genet. 2020 Apr;65(4):355-362. doi: 10.1038/s10038-019-0715-0. Epub 2020 Jan 21. J Hum Genet. 2020. PMID: 31959872
FAT1 biallelic truncating mutation causes a non-syndromic proteinuria in a child.
Rossanti R, Watanabe T, Nagano C, Hara S, Horinouchi T, Yamamura T, Sakakibara N, Ninchoji T, Iijima K, Nozu K. Rossanti R, et al. Among authors: hara s. CEN Case Rep. 2021 Feb;10(1):100-105. doi: 10.1007/s13730-020-00529-y. Epub 2020 Sep 9. CEN Case Rep. 2021. PMID: 32902815 Free PMC article.
2,171 results