2011 Fiscal Year Final Research Report
Analysis of the genetic and phenotypic findings in Japanese patients with vascular-type Ehlers-Danlos syndrom
| Project/Area Number |
21591442
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Dermatology
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| Research Institution | Dokkyo Medical University |
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Principal Investigator |
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| Co-Investigator(Renkei-kenkyūsha) |
SHIMAOKA Yayo 濁協医科大学, 医学部, 助教 (70528059)
YAMAZAKI Soji 濁協医科大学, 医学部, 教授 (80008333)
HAMA Naoto 濁協医科大学, 医学部, 講師 (70468346)
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| Project Period (FY) |
2009 – 2011
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| Keywords | エーラスダンロス症候群 / 血管型 / III型コラーゲン / COL3A1 / 遺伝子変異 |
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| Research Abstract |
Vascular-type Ehlers-Danlos syndrome(vEDS) is a severe autosomal dominant inherited disorder resulting form mutations within theα1 typeIIIcollagen gene(COL3A1). Sequence analyses of the COL3A1 gene demonstrated heterozygous point mutations leading to glycine substitution in only nine patients(45%), while heterozygous splice-site mutations at the junction of the triple-helical exons were observed in the remaining 11 patients(55%). The average type III collagen production level in the cultured dermal fibroblasts was 14.6% of the normal value. The types of complication were not associated with specific mutations in COL3A1.
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Research Products
(27 results)
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[Journal Article] A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations2010
Author(s)
Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N
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Journal Title
Am J Med Genet
Volume: 152A
Pages: 1333-1346
DOI
Peer Reviewed
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[Journal Article] Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome2010
Author(s)
Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahar
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Journal Title
Hum Mutat
Volume: 31
Pages: 1-9
DOI
Peer Reviewed
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[Journal Article] Pleuropulmonary pathology of vascular Ehlers-Danlos syndrome : spontaneous laceration, haematoma and fibrous nodules2010
Author(s)
Kawabata Y, Watanabe A, Yamaguchi S, Aoshima M, Shiraki A, Hatamochi A, Kawamura T, Uchiyama T, Watanabe A, Fukuda Y
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Journal Title
Histopathology
Volume: 56
Pages: 944-950
Peer Reviewed
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[Journal Article] Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome2010
Author(s)
Shimaoka Y, Kosho T, Wataya-Kaneda M, Funakoshi M, Suzuki T, Hayashi S, Mitsuhashi Y, Isei T, Aoki Y, Yamazaki K, Ono M, Makino K, Tanaka T, Kunii E, Hatamochi A
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Journal Title
Br J Dermatol
Volume: 163
Pages: 704-710
DOI
Peer Reviewed
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[Journal Article] Ehlers-Danlos Syndrome Type IV, Vascular Type, Which Demonstrated a Novel Point Mutation in the COL3A1 Gene2010
Author(s)
Sadakata R, Hatamochi A, Kodama K, Kaga A, Yamaguchi T, Soma T, Usui Y, Nagata M, Ohtake A, Hagiwara K, Kanazawa M
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Journal Title
Intern Med
Volume: 49
Pages: 1797-800
URL
Peer Reviewed
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[Journal Article] Ehlers-Danlos syndrome with recurrent spontaneous pneumothoraces and cavitary lesion on chest X-ray as the initial complications2009
Author(s)
Ishiguro T, Takayanagi N, Kawabata Y, Matsushima H, Yoshii Y, Harasawa K, Yamaguchi S, Yoneda K, Miyahara Y, Kagiyama N, Tokunaga D, Aoki F, Saito H, Kurashima K, Ubukata M, Yanagisawa T, Sugita Y, Okita H, Hatamochi A
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Journal Title
Intern Med
Volume: 48
Pages: 717-722
URL
Peer Reviewed
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