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J-GLOBAL ID：201602273643123673   Reference number：16A0800722

Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis

特発性低身長およびLeri-Weill軟骨異形成症を示す日本人患者におけるSHOXの系統的分子分析

Author (29)： SHIMA Hirohito (National Res. Inst. Child Health and Dev., Tokyo, JPN) ,  SHIMA Hirohito (Tohoku Univ. School of Medicine, Tokyo, JPN) ,  TANAKA Toshiaki (Tanaka Growth Clinic, Tokyo, JPN) ,  KAMIMAKI Tsutomu (Shizuoka City Shimizu Hospital, Shizuoka, JPN) ,  DATEKI Sumito (Nagasaki Univ. Graduate School of Biomedical Sci., Nagasaki, JPN) ,  MUROYA Koji (Kanagawa Children’s Medical Center, Yokohama, JPN) ,  HORIKAWA Reiko (National Center for Child Health and Dev., Tokyo, JPN) ,  KANNO Junko (Tohoku Univ. School of Medicine, Sendai, JPN) ,  ADACHI Masanori (Kanagawa Children’s Medical Center, Yokohama, JPN) ,  NAIKI Yasuhiro (National Center for Child Health and Dev., Tokyo, JPN) ,  TANAKA Hiroyuki (Okayama Saiseikai General Hospital, Okayama, JPN) ,  MABE Hiroyo (Kumamoto Univ. Hospital, Kumamoto, JPN) ,  YAGASAKI Hideaki (Univ. Yamanashi, Chuo, JPN) ,  KURE Shigeo (Tohoku Univ. School of Medicine, Sendai, JPN) ,  MATSUBARA Yoichi (Tohoku Univ. School of Medicine, Tokyo, JPN) ,  MATSUBARA Yoichi (National Res. Inst. Child Health and Dev., Tokyo, JPN) ,  TAJIMA Toshihiro (Hokkaido Univ. School of Medicine, Sapporo, JPN) ,  TAJIMA Toshihiro (Jichi Medical Univ., Shimotsuke, JPN) ,  KASHIMADA Kenichi (Tokyo Medical and Dental Univ., Tokyo, JPN) ,  ISHII Tomohiro (Keio Univ. School of Medicine, Tokyo, JPN) ,  ASAKURA Yumi (Kanagawa Children’s Medical Center, Yokohama, JPN) ,  FUJIWARA Ikuma (Tohoku Univ. Graduate School of Medicine, Sendai, JPN) ,  SONEDA Shun (St Marianna Univ. Kawasaki, JPN) ,  NAGASAKI Keisuke (Niigata Univ. Graduate School of Medical and Dental Sci., Niigata, JPN) ,  HAMAJIMA Takashi (Aichi Children’s Health and Medical Center, Obu, JPN) ,  KANZAKI Susumu (Tottori Univ. Fac. Medicine, Yonago, JPN) ,  JINNO Tomoko (National Res. Inst. Child Health and Dev., Tokyo, JPN) ,  OGATA Tsutomu (Hamamatsu Univ. School of Medicine, Hamamatsu, JPN) ,  FUKAMI Maki (National Res. Inst. Child Health and Dev., Tokyo, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 61  Issue： 7  Page： 585-591  Publication year： Jul. 2016 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： *short stature ,...
Semi thesaurus term： *genetic variation ,...

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JST classification (3)： Basic medicine on musculoskeletal system  (GG01020B) ,  Basic medicine on endocrine system  (GL01020Q) ,  Molecular genetics in general  (EC02010J)

Reference (28)：

• Rao, E., Weiss, B., Fukami, M., Rump, A., Niesler, B., Mertz, A. et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat. Genet. 16, 54-63 (1997)
• Binder, G. Short stature due to SHOX deficiency: genotype, phenotype, and therapy. Norm. Res. Paediatr. 75, 81-89 (2011)
• Seki, A., Jinno, T., Suzuki, E., Takayama, S., Ogata, T. & Fukami, M. Skeletal deformity associated with SHOX deficiency. Clin. Pediatr. Endocrinol 23, 65-72 (2014)
• Huber, C., Cusin, V., Le Merrer, M., Mathieu, M., Sulmont, V., Dagoneau, N. et al. SHOX point mutations in dyschondrosteosis. J. Med. Genet. 38, 323 (2001).
• Ross, J. L., Scott, C. Jr., Marttila, P., Kowal, K., Nass, A., Papenhausen, P. et al. Phenotypes associated with SHOX deficiency. J. Clin. Endocrinol. Metab. 86, 5674-5680 (2001)

Terms in the title (7)： 特発性低身長 ,  軟骨異形成症 ,  日本人 ,  患者 ,  系統 ,  分子 ,  分析