Elucidation of pathogenesis of universal inherited melanodyschromatosis
Project/Area Number |
26670526
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Research Category |
Grant-in-Aid for Challenging Exploratory Research
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Allocation Type | Multi-year Fund |
Research Field |
Dermatology
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Research Institution | Nagoya University |
Principal Investigator |
SUGIURA Kazumitsu 名古屋大学, 医学(系)研究科(研究院), 准教授 (70335032)
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Co-Investigator(Renkei-kenkyūsha) |
KOSHIKAWA Naohiko 東京大学, 医科学研究所, 准教授 (70334282)
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Project Period (FY) |
2014-04-01 – 2016-03-31
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Project Status |
Completed (Fiscal Year 2015)
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Budget Amount *help |
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2014: ¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
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Keywords | 遺伝性全身性メラニン色素異常症 / 常染色体優性遺伝形式 / 遺伝性皮膚疾患 / 全エクソームシークエンス / 病因遺伝子同定 / c-kit / 全エクソームシーケンス法 / 色素異常症 / リン酸化酵素 / メラノサイト / 電子顕微鏡 |
Outline of Final Research Achievements |
Universal inherited melanodyschromatosis (UIM) , a provisional name of a skin disease, is a rare autosomal dominant disorder. In this study, we identified a causative gene of gene X for UIM by whole exome sequencing method using the fisrt Japanese UIM large family. In addition, we conducted melanin synthesis analysis with a melanoma cell line in order to realize a function of gene X for malanin synthesis.
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Report
(3 results)
Research Products
(73 results)
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[Journal Article] Dowling-Degos disease with mutations in POFUT1 is clinicopathologically distinct from reticulate acropigmentation of Kitamura.2015
Author(s)
Kono M, Suganuma M, Takama H, Zarzoso I, Saritha M, Bodet D, Aboobacker S, Kaliaperumal K, Suzuki T, Tomita Y, Sugiura K, Akiyama M.
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Journal Title
Br J Dermatol
Volume: 173
Issue: 2
Pages: 584-6
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation.2015
Author(s)
Ohno Y, Nakamichi S, Ohkuni A, Kamiyama N, Naoe A, Tsujimura H, Yokose U, Sugiura K, Ishikawa J, Akiyama M, Kihara A.
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Journal Title
Proc Natl Acad Sci U S A
Volume: 112
Issue: 25
Pages: 7707-12
DOI
NAID
Related Report
Peer Reviewed / Open Access
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[Journal Article] Diversity of humoral responses to the centromere proteins among HCV-related chronic liver disease, PBC and AIH patients.2015
Author(s)
Himoto T, Tanaka N, Saito A, Muro Y, Sugiura K, Tani J, Miyoshi H, Morishita A, Yoneyama H, Haba R, Masaki T.
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Journal Title
Clin Res Hepatol Gastroenterol
Volume: 39
Issue: 2
Pages: 222-229
DOI
Related Report
Peer Reviewed
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[Presentation] 先天性縮毛症・乏毛症2015
Author(s)
杉浦一充
Organizer
第20回日本臨床毛髪学会学術集会
Place of Presentation
総合あいしんセンター 高知県高知市
Year and Date
2015-12-05
Related Report
Invited
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[Presentation] 膿疱性乾癬の病態と治療2014
Author(s)
杉浦一充
Organizer
平成26年度(第34回)難病講習会
Place of Presentation
愛知県名古屋市 愛知県医師会館
Year and Date
2014-11-05
Related Report
Invited
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[Presentation] 膿疱性乾癬の新知見2014
Author(s)
杉浦一充
Organizer
第12回遠州皮膚科医会
Place of Presentation
静岡県浜松市 オークラアクトシティホテル浜松
Year and Date
2014-09-17
Related Report
Invited
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[Presentation] 意外な遺伝性皮膚疾患2014
Author(s)
杉浦一充
Organizer
第113回日本皮膚科学会総会
Place of Presentation
京都府京都市 京都国際会館
Year and Date
2014-05-30
Related Report
Invited
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[Presentation] 膿疱性乾癬の責任遺伝子2014
Author(s)
杉浦一充
Organizer
第113回日本皮膚科学会総会
Place of Presentation
京都府京都市 京都国際会館
Year and Date
2014-05-30
Related Report
Invited
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