Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

Akira Kinoshita; Takashi Saito; Hiro Aki Tomita; Yoshio Makita; Kunihiro Yoshida; Mohsen Ghadami; Koki Yamada; Shinji Kondo; Shiro Ikegawa; Gen Nishimura; Yoshimitsu Fukushima; Tadashi Nakagomi; Haruki Saito; Takeo Sugimoto; Makoto Kamegaya; Kenji Hisa; Jeffrey C. Murray; Naoyuki Taniguchi; Norio Niikawa; Koh Ichiro Yoshiura

doi:10.1038/79128

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

Akira Kinoshita, Takashi Saito, Hiro Aki Tomita, Yoshio Makita, Kunihiro Yoshida, Mohsen Ghadami, Koki Yamada, Shinji Kondo, Shiro Ikegawa, Gen Nishimura, Yoshimitsu Fukushima, Tadashi Nakagomi, Haruki Saito, Takeo Sugimoto, Makoto Kamegaya, Kenji Hisa, Jeffrey C. Murray, Naoyuki Taniguchi, Norio Niikawa, Koh Ichiro Yoshiura

MED - Medical Sciences

Research output: Contribution to journal › Article › peer-review

202 Citations (Scopus)

Original language	English
Pages (from-to)	19-20
Number of pages	2
Journal	Nature Genetics
Volume	26
Issue number	1
DOIs	https://doi.org/10.1038/79128
Publication status	Published - 2000 Sept

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Kinoshita, A., Saito, T., Tomita, H. A., Makita, Y., Yoshida, K., Ghadami, M., Yamada, K., Kondo, S., Ikegawa, S., Nishimura, G., Fukushima, Y., Nakagomi, T., Saito, H., Sugimoto, T., Kamegaya, M., Hisa, K., Murray, J. C., Taniguchi, N., Niikawa, N., & Yoshiura, K. I. (2000). Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nature Genetics, 26(1), 19-20. https://doi.org/10.1038/79128

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title = "Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease",

author = "Akira Kinoshita and Takashi Saito and Tomita, {Hiro Aki} and Yoshio Makita and Kunihiro Yoshida and Mohsen Ghadami and Koki Yamada and Shinji Kondo and Shiro Ikegawa and Gen Nishimura and Yoshimitsu Fukushima and Tadashi Nakagomi and Haruki Saito and Takeo Sugimoto and Makoto Kamegaya and Kenji Hisa and Murray, {Jeffrey C.} and Naoyuki Taniguchi and Norio Niikawa and Yoshiura, {Koh Ichiro}",

note = "Funding Information: the Human Frontier Science Program. Grant support to C.A.G. and P.M. was from the National Institutes of Health, and to P.M. from the March of Dimes Birth Defects Foundation and Senomyx. Funding Information: We thank J. Yee for technical assistance; D. Ross for assistance in obtaining biopsies of human olfactory mucosa; and T. Bozza, P. Feinstein, L. Stryer, T. Perry and P. Vassalli for critical review. I.R. was supported by postdoctoral fellowships from the Swiss National Science Foundation, the European Molecular Biology Organization, and Funding Information: We thank our patients for their participation. This study was supported by Grants-in-Aid (11470507 for N.N.; 11672252 for K.Y.; 10770489 for H.T.) from Ministry of Education, Science, Sports and Culture, and from Ministry of Health and Welfare of Japan.",

year = "2000",

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doi = "10.1038/79128",

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Kinoshita, A, Saito, T, Tomita, HA, Makita, Y, Yoshida, K, Ghadami, M, Yamada, K, Kondo, S, Ikegawa, S, Nishimura, G, Fukushima, Y, Nakagomi, T, Saito, H, Sugimoto, T, Kamegaya, M, Hisa, K, Murray, JC, Taniguchi, N, Niikawa, N & Yoshiura, KI 2000, 'Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease', Nature Genetics, vol. 26, no. 1, pp. 19-20. https://doi.org/10.1038/79128

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T1 - Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

AU - Kinoshita, Akira

AU - Saito, Takashi

AU - Tomita, Hiro Aki

AU - Makita, Yoshio

AU - Yoshida, Kunihiro

AU - Ghadami, Mohsen

AU - Yamada, Koki

AU - Kondo, Shinji

AU - Ikegawa, Shiro

AU - Nishimura, Gen

AU - Fukushima, Yoshimitsu

AU - Nakagomi, Tadashi

AU - Saito, Haruki

AU - Sugimoto, Takeo

AU - Kamegaya, Makoto

AU - Hisa, Kenji

AU - Murray, Jeffrey C.

AU - Taniguchi, Naoyuki

AU - Niikawa, Norio

AU - Yoshiura, Koh Ichiro

N1 - Funding Information: the Human Frontier Science Program. Grant support to C.A.G. and P.M. was from the National Institutes of Health, and to P.M. from the March of Dimes Birth Defects Foundation and Senomyx. Funding Information: We thank J. Yee for technical assistance; D. Ross for assistance in obtaining biopsies of human olfactory mucosa; and T. Bozza, P. Feinstein, L. Stryer, T. Perry and P. Vassalli for critical review. I.R. was supported by postdoctoral fellowships from the Swiss National Science Foundation, the European Molecular Biology Organization, and Funding Information: We thank our patients for their participation. This study was supported by Grants-in-Aid (11470507 for N.N.; 11672252 for K.Y.; 10770489 for H.T.) from Ministry of Education, Science, Sports and Culture, and from Ministry of Health and Welfare of Japan.

PY - 2000/9

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JO - Nature Genetics

JF - Nature Genetics

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Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

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