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Page 1
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. Among authors: kumagai n. Nat Commun. 2018 May 17;9(1):1960. doi: 10.1038/s41467-018-04193-w. Nat Commun. 2018. PMID: 29773874 Free PMC article.
Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome.
Niitsuma S, Kudo H, Kikuchi A, Hayashi T, Kumakura S, Kobayashi S, Okuyama Y, Kumagai N, Niihori T, Aoki Y, So T, Funayama R, Nakayama K, Shirota M, Kondo S, Kagami S, Tsukaguchi H, Iijima K, Kure S, Ishii N. Niitsuma S, et al. Among authors: kumagai n. Int Immunol. 2020 Apr 12;32(4):283-292. doi: 10.1093/intimm/dxz081. Int Immunol. 2020. PMID: 31954058
Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population.
Jia X, Horinouchi T, Hitomi Y, Shono A, Khor SS, Omae Y, Kojima K, Kawai Y, Nagasaki M, Kaku Y, Okamoto T, Ohwada Y, Ohta K, Okuda Y, Fujimaru R, Hatae K, Kumagai N, Sawanobori E, Nakazato H, Ohtsuka Y, Nakanishi K, Shima Y, Tanaka R, Ashida A, Kamei K, Ishikura K, Nozu K, Tokunaga K, Iijima K; Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome in Japan. Jia X, et al. Among authors: kumagai n. J Am Soc Nephrol. 2018 Aug;29(8):2189-2199. doi: 10.1681/ASN.2017080859. Epub 2018 Jul 16. J Am Soc Nephrol. 2018. PMID: 30012571 Free PMC article.
Mycophenolate Mofetil after Rituximab for Childhood-Onset Complicated Frequently-Relapsing or Steroid-Dependent Nephrotic Syndrome.
Iijima K, Sako M, Oba M, Tanaka S, Hamada R, Sakai T, Ohwada Y, Ninchoji T, Yamamura T, Machida H, Shima Y, Tanaka R, Kaito H, Araki Y, Morohashi T, Kumagai N, Gotoh Y, Ikezumi Y, Kubota T, Kamei K, Fujita N, Ohtsuka Y, Okamoto T, Yamada T, Tanaka E, Shimizu M, Horinochi T, Konishi A, Omori T, Nakanishi K, Ishikura K, Ito S, Nakamura H, Nozu K; Japanese Study Group of Kidney Disease in Children. Iijima K, et al. Among authors: kumagai n. J Am Soc Nephrol. 2022 Feb;33(2):401-419. doi: 10.1681/ASN.2021050643. Epub 2021 Dec 8. J Am Soc Nephrol. 2022. PMID: 34880074 Free PMC article. Clinical Trial.
Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.
Jia X, Yamamura T, Gbadegesin R, McNulty MT, Song K, Nagano C, Hitomi Y, Lee D, Aiba Y, Khor SS, Ueno K, Kawai Y, Nagasaki M, Noiri E, Horinouchi T, Kaito H, Hamada R, Okamoto T, Kamei K, Kaku Y, Fujimaru R, Tanaka R, Shima Y; Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome in Japan; Baek J, Kang HG, Ha IS, Han KH, Yang EM; Korean Consortium of Hereditary Renal Diseases in Children; Abeyagunawardena A, Lane B, Chryst-Stangl M, Esezobor C, Solarin A; Midwest Pediatric Nephrology Consortium (Genetics of Nephrotic Syndrome Study Group); Dossier C, Deschênes G; NEPHROVIR; Vivarelli M, Debiec H, Ishikura K, Matsuo M, Nozu K, Ronco P, Cheong HI, Sampson MG, Tokunaga K, Iijima K. Jia X, et al. Kidney Int. 2020 Nov;98(5):1308-1322. doi: 10.1016/j.kint.2020.05.029. Epub 2020 Jun 14. Kidney Int. 2020. PMID: 32554042 Free PMC article.
Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases.
Matsuhashi T, Sato T, Kanno SI, Suzuki T, Matsuo A, Oba Y, Kikusato M, Ogasawara E, Kudo T, Suzuki K, Ohara O, Shimbo H, Nanto F, Yamaguchi H, Saigusa D, Mukaiyama Y, Watabe A, Kikuchi K, Shima H, Mishima E, Akiyama Y, Oikawa Y, Hsin-Jung HO, Akiyama Y, Suzuki C, Uematsu M, Ogata M, Kumagai N, Toyomizu M, Hozawa A, Mano N, Owada Y, Aiba S, Yanagisawa T, Tomioka Y, Kure S, Ito S, Nakada K, Hayashi KI, Osaka H, Abe T. Matsuhashi T, et al. Among authors: kumagai n. EBioMedicine. 2017 Jun;20:27-38. doi: 10.1016/j.ebiom.2017.05.016. Epub 2017 May 13. EBioMedicine. 2017. PMID: 28579242 Free PMC article.
616 results