Haploinsufficiency of NSD1 causes Sotos syndrome

Nature Genetics - Tập 30 Số 4 - Trang 365-366 - 2002
Naohiro Kurotaki1,2, Kiyoshi Imaizumi3, Naoki Harada1,2,4, Mitsuo Masuno3, Tatsuro Kondoh5, Toshiro Nagai6, Hirofumi Ohashi1,7, Kenji Naritomi1,8, Masato Tsukahara9, Yoshio Makita10, T Sugimoto11, Takao Sonoda12, Tomoko Hasegawa13, Yasuaki Chinen14, Hiroaki Tomita1,2, Akira Kinoshita1,2, Tsuyoshi Mizuguchi2, Koh‐ichiro Yoshiura1,2, Tohru Ohta15, Tatsuya Kishino1,15, Yoshimitsu Fukushima1,16, Norio Niikawa1,2, Naomichi Matsumoto1,2
1CREST, Japan Science and Technology Corporation, Kawaguchi, Japan
2Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan
3Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan
4Kyushu medical Science Nagasaki Laboratory, Nagasaki, Japan
5Department of Pediatrics, Nagasaki University School of Medicine, Nagasaki, Japan
6Department of Pediatrics, Koshigaya Hospital, Dokkyo University School of Medicine, Koshigaya, Japan
7Division of Medical Genetics, Saitama Children’s Medical Center, Saitama, Japan
8Department of Medical Genetics, University of the Ryukyu School of Medicine, Okinawa, Japan
9Faculty of Health Science, Yamaguchi University School of Medicine, Ube, Japan
10Department of Public Health, Asahikawa Medical College, Asahikawa, Japan
11Department of Pediatrics, Kansai Medical University Otokoyama Hospital, Yawata, Japan
12Department of Pediatrics, Miyazaki Medical College, Miyazaki, Japan
13Division of Clinical Genetics and Cytogenetics, Shizuoka Children's Medical Center, Shizuoka, Japan
14Department of Pediatrics, University of the Ryukyu School of Medicine, Okinawa, Japan
15Gene Research Center, Nagasaki University, Nagasaki, Japan
16Department of Hygiene and Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan

Tóm tắt

Từ khóa


Tài liệu tham khảo

Imaizumi, K. et al. Am. J. Med. Genet . 107, 58–60 (2002).

Huang, N. et al. EMBO J. 17, 3398–3412 (1998).

Kurotaki, N. et al. Gene 279, 197–204 (2001).

Jenuwein, T., Laible, G., Dorn, R. & Reuter, G. Cell. Mol. Life Sci. 54, 80–93 (1998).

Stec, I., Nagl, S.B., van Ommen, G.-J.B. & den Dunnen, J.T. FEBS Lett . 473, 1–5 (2000).

Aasland, R., Gibson, T.J. & Stewart, A.F. Trends Biochem. Sci. 20, 56–59 (1995).

Opitz, J.M., Weaver, D.W. & Reynolds Jr, J.F. Am. J. Med. Genet. 79, 294–304 (1998).

Bale, A.E., Drum, M.A., Parry, D.M. & Mulvihill, J.J. Am. J. Med. Genet. 20, 613–624 (1985).

Boman, H. & Nilsson, D. Clin. Genet. 18, 421–427 (1980).

Townes, P.L. J. Med. Genet . 13, 80 (1976).

Thông tin
Thông tin xuất bản

Nature Genetics

Tập 30 Số 4

365-366

Thông tin tác giả