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Hanahusa              Y, Abe              M, Joki              N, et al.            2020 Annual dialysis data report, JSDT renal data            registry. J Jpn Soc Dialysis Ther.          2021; 5: 611\u2013657(in            Japanese, Abstract in English).","DOI":"10.4009\/jsdt.54.611"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Groopman              EE, Marasa              M,                Cameron-Christie              S, et al.            Diagnostic utility of exome sequencing for kidney          disease. N Engl J Med          2019; 380: 142\u2013151.","DOI":"10.1056\/NEJMc1903250"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Sengar              AS, Wang              W, Bishay              J, et al.            The EH and SH3 domain Ese proteins regulate endocytosis by linking to            dynamin and Eps15. EMBO J          1999; 18: 1159\u20131171.","DOI":"10.1093\/emboj\/18.5.1159"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. 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Mutations in six nephrosis genes delineate a pathogenic pathway amenable            to treatment. Nat Commun          2018; 9: 1960.","DOI":"10.1038\/s41467-018-04193-w"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. McGavin              MK, Badour              K, Hardy              LA, et al.            The intersectin 2 adaptor links Wiskott Aldrich Syndrome protein            (WASp)-mediated actin polymerization to T cell antigen receptor            endocytosis. J Exp Med          2001; 194: 1777\u20131787.","DOI":"10.1084\/jem.194.12.1777"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Scott              RP, Hawley              SP, Ruston              J, et al.            Podocyte-specific loss of Cdc42 leads to congenital            nephropathy. J Am Soc Nephrol          2012; 23: 1149\u20131154.","DOI":"10.1681\/ASN.2011121206"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. 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Fujii              J, Yazaki              Y. Aging and            roentgenologic. Aortic calcification. Geriatr Gerontol            Int          1970; 7: 55\u201359(in            Japanese, Abstract in English).","DOI":"10.3143\/geriatrics.7.55"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Tomono              S, Seki              A, Imataka              K, et al.            [Sex difference of aortic calcification (author\u2019s            transl)]. Jpn J Geriatr          1979; 16: 409\u2013412(in            Japanese, Abstract in English).","DOI":"10.3143\/geriatrics.16.409"},{"key":"17","unstructured":"17. Matsunaga              W. Diameter of            the thoracic and abdominal aorta in healthy Japanese: assessment by X-ray computed            tomography. Journal of Tokyo Women\u2019s Medical University          1989; 59: 809\u2013820(in            Japanese, Abstract in English)."},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. 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Altered endocytosis in cellular senescence.            Ageing Res Rev          2021; 68: 101332.","DOI":"10.1016\/j.arr.2021.101332"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Yao              T, Udwan              K, John              R, et al.            Integration of genetic testing and pathology for the diagnosis of adults            with FSGS. 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