Rchr

J-GLOBAL ID：200901090840498546 Update date: Jun. 08, 2020

Nagasaki Akari

ナガサキアカリ | Nagasaki Akari

Affiliation and department：
Homepage URL (1)： http://www.derm-hokudai.jp/

Research field (1)： Dermatology

Research keywords (2)：出生前診断 , 遺伝子解析

Research theme for competitive and other funds (1)：

2002 - 重症型遺伝性皮膚疾患患者における遺伝子変異解析及び、同定された遺伝子変異が引き起こす蛋白の構造異常の検証。また、それらについての出生前診断。

MISC (5)：

Toshifumi Nomura, Masashi Akiyama, Aileen Sandilands, Ikue Nemoto-Hasebe, Kaori Sakai, Akari Nagasaki, Mitsuhito Ota, Hiroo Hata, Alan T. Evans, Colin N. A. Palmer, et al. Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. JOURNAL OF INVESTIGATIVE DERMATOLOGY. 2008. 128. 6. 1436-1441
Teruhiko Makino, Akari Nagasaki, Megumi Furuichi, Kotaro Matsui, Hirokazu Watanabe, Daisuke Sawamura, Hiroshi Shimizu, Tadamichi Shimizu. Novel mutation in a fumalate hydratase gene of a Japanese patient with multiple cutaneous and uterine leiomyomatosis. JOURNAL OF DERMATOLOGICAL SCIENCE. 2007. 48. 2. 151-153
Masataka Abe, Daisuke Sawamura, Maki Goto, Hideki Nakamura, Akari Nagasaki, Yukiko Nomura, Hiroyuki Kawasaki, Rieko Isogai, Hiroshi Shimizu. ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia. JOURNAL OF DERMATOLOGICAL SCIENCE. 2007. 47. 2. 165-167
Yanagi T, Akiyama M, Sago H, Ozawa N, Kosaki R, Sakai K, Nagasaki A, Shimizu H. DNA-based prenatal exclusion of harlequin ichthyosis. J. Med. Genet
Nagasaki A, Nishie W, Sato K, Oba I, Asada H, Noguchi E, Akitsu H, Sawamura D, Shimizu H. Clinical and Genetic analysis of Fabry disease: report of 7 cases including 4 heterozygous female patients. J Dermatol Sci

Lectures and oral presentations (2)：

Nagasaki A, Nishie W, Sawamura D, Oba I, Shimizu H. Clinical and genetic analysis of 4 heterozygous female patients with Fabry disease.
(International Investigative Dermatology 2008)
大日輝記、今田憲二郎、横溝晃、角田俊、澤村大輔、長崎暁理、清水宏、占部和敬、古江増隆. Birt-Hogg-Dube 症候群の非定型例と考えた症例
(日本研究皮膚科学会第32回学術大会 2007)

Education (2)：

- 1997 Obihiro University of Agriculture and Veterinary Medicine Faculty of Animal Husbandry
北海道大学大学院医学研究科医科学専攻

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