文献

J-GLOBAL ID：201702278600713583   整理番号：17A1801825

体細胞モザイクを伴う女性X染色体連鎖Alport症候群

Female X-linked Alport syndrome with somatic mosaicism

著者 (19件)： YOKOTA Kana (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  NOZU Kandai (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  MINAMIKAWA Shogo (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  YAMAMURA Tomohiko (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  NAKANISHI Keita (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  KANEDA Hisashi (Komatsu Municipal Hospital, Ishikawa, JPN) ,  HAMADA Riku (Tokyo Metropolitan Children’s Medical Center, Tokyo, JPN) ,  NOZU Yoshimi (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  SHONO Akemi (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  NINCHOJI Takeshi (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  MORISADA Naoya (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  ISHIMORI Shingo (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  FUJIMURA Junya (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  HORINOUCHI Tomoko (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  KAITO Hiroshi (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  NAKANISH Koichi (Wakayama Medical Univ., Wakayama, JPN) ,  MORIOKA Ichiro (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  TANIGUCHI-IKEDA Mariko (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  IIJIMA Kazumoto (Kobe Univ. Graduate School of Medicine, Kobe, JPN)
資料名： Clinical and Experimental Nephrology  (Clinical and Experimental Nephrology)
巻： 21  号： 5  ページ： 877-883  発行年： 2017年10月 
JST資料番号： L3173A  ISSN： 1342-1751  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： ドイツ (DEU)  言語： 英語 (EN)

抄録/ポイント： 慢性腎疾患から末期腎不全への進行を特徴とする遺伝性のIV型コ...

シソーラス用語： *モザイク性 ,...
準シソーラス用語： *遺伝子変異 ,...

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分類 (3件)： 泌尿生殖器の臨床医学一般  (GM01030E) ,  先天性疾患・奇形一般  (GD03010V) ,  遺伝的変異  (EC01030Y)

引用文献 (19件)：

• Kashtan CE, Ding J, Gregory M, Gross O, Heidet L, Knebelmann B, Rheault M, Licht C. Alport syndrome research C: clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport syndrome research collaborative. Pediatr Nephrol. 2013;28(1):5-11.
• Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, et al. X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol. 2000;11(4):649-57.
• Krol RP, Nozu K, Nakanishi K, Iijima K, Takeshima Y, Fu XJ, Nozu Y, Kaito H, Kanda K, Matsuo M, et al. Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome. Nephrol Dial Transplant. 2008;23(8):2525-30.
• Fu XJ, Nozu K, Kaito H, Ninchoji T, Morisada N, Nakanishi K, Yoshikawa N, Ohtsubo H, Matsunoshita N, Kamiyoshi N, et al. Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome. Eur J Hum Genet. 2016;24(3):387-91.
• Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S, et al. Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome. Clin J Am Soc Nephrol. 2016;11(8):1441-9.

タイトルに関連する用語 (5件)： 体細胞モザイク ,  女性 ,  X染色体 ,  連鎖 ,  Alport症候群