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J-GLOBAL ID：201702278600713583   Reference number：17A1801825

Female X-linked Alport syndrome with somatic mosaicism

体細胞モザイクを伴う女性X染色体連鎖Alport症候群

Author (19)： 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)
Material： Clinical and Experimental Nephrology  (Clin Exp Nephrol)
Volume： 21  Issue： 5  Page： 877-883  Publication year： Oct. 2017 
JST Material Number： L3173A  ISSN： 1342-1751  Document type： Article
Article type： 原著論文  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： *mosaic ,...
Semi thesaurus term： *genetic variation ,...

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JST classification (3)： Clinical medicine on urogenital system in general  (GM01030E) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Genetic variation  (EC01030Y)

Reference (19)：

• 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.

Terms in the title (5)： 体細胞モザイク ,  女性 ,  X染色体 ,  連鎖 ,  Alport症候群