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Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy.
Ueda H, Tran QTH, Tran LNT, Higasa K, Ikeda Y, Kondo N, Hashiyada M, Sato C, Sato Y, Ashida A, Nishio S, Iwata Y, Iida H, Matsuoka D, Hidaka Y, Fukui K, Itami S, Kawashita N, Sugimoto K, Nozu K, Hattori M, Tsukaguchi H. Ueda H, et al. Sci Rep. 2023 Jul 25;13(1):12003. doi: 10.1038/s41598-023-38588-7. Sci Rep. 2023. PMID: 37491439 Free PMC article.
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
Ashraf S, Kudo H, Rao J, Kikuchi A, Widmeier E, Lawson JA, Tan W, Hermle T, Warejko JK, Shril S, Airik M, Jobst-Schwan T, Lovric S, Braun DA, Gee HY, Schapiro D, Majmundar AJ, Sadowski CE, Pabst WL, Daga A, van der Ven AT, Schmidt JM, Low BC, Gupta AB, Tripathi BK, Wong J, Campbell K, Metcalfe K, Schanze D, Niihori T, Kaito H, Nozu K, Tsukaguchi H, Tanaka R, Hamahira K, Kobayashi Y, Takizawa T, Funayama R, Nakayama K, Aoki Y, Kumagai N, Iijima K, Fehrenbach H, Kari JA, El Desoky S, Jalalah S, Bogdanovic R, Stajić N, Zappel H, Rakhmetova A, Wassmer SR, Jungraithmayr T, Strehlau J, Kumar AS, Bagga A, Soliman NA, Mane SM, Kaufman L, Lowy DR, Jairajpuri MA, Lifton RP, Pei Y, Zenker M, Kure S, Hildebrandt F. Ashraf S, et al. Nat Commun. 2018 May 17;9(1):1960. doi: 10.1038/s41467-018-04193-w. Nat Commun. 2018. PMID: 29773874 Free PMC article.
A digest of the Evidence-Based Clinical Practice Guideline for Nephrotic Syndrome 2020.
Wada T, Ishimoto T, Nakaya I, Kawaguchi T, Sofue T, Shimizu S, Kurita N, Sasaki S, Nishiwaki H, Koizumi M, Saito S, Nishibori N, Oe Y, Yoshida M, Miyaoka Y, Akiyama S, Itano Y, Okazaki M, Ozeki T, Ichikawa D, Oguchi H, Kohsaka S, Kosaka S, Kataoka Y, Shima H, Shirai S, Sugiyama K, Suzuki T, Son D, Tanaka T, Nango E, Niihata K, Nishijima Y, Nozu K, Hasegawa M, Miyata R, Yazawa M, Yamamoto Y, Yamamoto R, Shibagaki Y, Furuichi K, Okada H, Narita I; Committee of Clinical Practical Guideline for Nephrotic Syndrome 2020. Wada T, et al. Clin Exp Nephrol. 2021 Dec;25(12):1277-1285. doi: 10.1007/s10157-021-02098-5. Epub 2021 Sep 26. Clin Exp Nephrol. 2021. PMID: 34564793 No abstract available.
Oxidative imbalance in idiopathic renal hypouricemia.
Kaneko K, Taniguchi N, Tanabe Y, Nakano T, Hasui M, Nozu K. Kaneko K, et al. Pediatr Nephrol. 2009 Apr;24(4):869-71. doi: 10.1007/s00467-008-1032-6. Epub 2008 Oct 21. Pediatr Nephrol. 2009. PMID: 18936980
A family with X-linked benign familial hematuria.
Kaneko K, Tanaka S, Hasui M, Nozu K, Krol RP, Iijima K, Sugimoto K, Takemura T. Kaneko K, et al. Pediatr Nephrol. 2010 Mar;25(3):545-8. doi: 10.1007/s00467-009-1370-z. Pediatr Nephrol. 2010. PMID: 19937058
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.
Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Imamura S, Hirose T, Okudela K, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Cheong HI, Kagami S, Yamashita M, Fujita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Ohashi K, Imamoto N, Ryo A, Ogata K, Iijima K, Matsumoto N. Miyake N, et al. Am J Hum Genet. 2015 Oct 1;97(4):555-66. doi: 10.1016/j.ajhg.2015.08.013. Epub 2015 Sep 24. Am J Hum Genet. 2015. PMID: 26411495 Free PMC article.