Analysis of the genetic and phenotypic findings in Japanese patients with vascular-type Ehlers-Danlos syndrom
Analysis of the genetic and phenotypic findings in Japanese patients with vascular-type Ehlers-Danlos syndrom
批准号:
21591442
负责人:
HATAMOCHI Atsushi
金额:
$1.25万
依托单位国家:
日本
项目类别:
Grant-in-Aid for Scientific Research (C)
财政年份:
2009
资助国家:
日本
项目状态:
已结题
起止时间:
2009 至 2011
中文摘要
血管型Ehlers-Danlos综合征(vEDS)是一种严重的常染色体显性遗传病,由α1 Ⅲ型胶原基因(COL 3A 1)突变引起。COL 3A 1基因的序列分析表明,杂合点突变导致甘氨酸取代,只有9例(45%),而杂合剪接位点突变的三螺旋外显子的交界处观察到在其余11例(55%)。培养的真皮成纤维细胞中的平均III型胶原产生水平为正常值的14.6%。并发症的类型与COL 3A 1的特定突变无关。
英文摘要
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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短期間に大腸穿孔性腹膜炎を2回起こした血管型Ehlers-Danlos症候群の1例
血管性埃勒斯-当洛斯综合征短期内两次发作结肠穿孔性腹膜炎一例。
DOI:
--
发表时间:
2011
期刊:
日本臨床外科学会雑誌
影响因子:
--
作者:
[緒方健一, 工藤啓介, 土居浩一, 大地哲史, 牧野公治, 籏持淳]
通讯作者:
籏持淳
Ehlers-Danlos症候群.皮膚疾患診療実践ガイド
埃勒斯-当洛斯综合征.皮肤病治疗实用指南
DOI:
--
发表时间:
2011
期刊:
影响因子:
--
作者:
[嶋岡弥生, 籏持淳, 濱崎洋一郎, 山崎讐次, 船越美由紀, 管野美紀, 大森浩志, Dai X, 嶋岡弥生, 籏持淳]
通讯作者:
籏持淳
その他の皮膚形成異常.皮膚疾患診療実践ガイド
其他皮肤发育不良。皮肤病治疗实用指南
DOI:
--
发表时间:
2011
期刊:
影响因子:
--
作者:
[嶋岡弥生, 籏持淳, 濱崎洋一郎, 山崎讐次, 船越美由紀, 管野美紀, 大森浩志, Dai X, 嶋岡弥生, 籏持淳, 籏持淳]
通讯作者:
籏持淳
DOI:
10.2169/internalmedicine.49.3435
发表时间:
2010-01-01
期刊:
INTERNAL MEDICINE
影响因子:
1.2
作者:
[Sadakata, Rinako, Hatamochi, Atsushi, Kanazawa, Minoru]
通讯作者:
Kanazawa, Minoru
DOI:
10.1111/j.1365-2559.2010.03574.x
发表时间:
2010-06-01
期刊:
HISTOPATHOLOGY
影响因子:
6.4
作者:
[Kawabata, Yoshinori, Watanabe, Akira, Fukuda, Yuh]
通讯作者:
Fukuda, Yuh
共 40 条
Analysis of transcriptional control mechanism for the expression of type I collagen and related gene in fibrotic skin disorders
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批准号:14570799
-
项目类别:Grant-in-Aid for Scientific Research (C)
-
资助金额:$1.28万
-
财政年份:2002
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负责人:HATAMOCHI Atsushi
-
依托单位:
Analysis of transcriptional control mechanism for the expression of type I collagen gene in fibrotic skin disorders
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批准号:10670779
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项目类别:Grant-in-Aid for Scientific Research (C)
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资助金额:$1.73万
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财政年份:1998
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负责人:HATAMOCHI Atsushi
-
依托单位:
Transcriptional control mechanism for the expression of type I collagen gene in fibrotic skin disorders and related diseases
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批准号:08670948
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项目类别:Grant-in-Aid for Scientific Research (C)
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资助金额:$1.41万
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财政年份:1996
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负责人:HATAMOCHI Atsushi
-
依托单位:
Transcriptional control mechanism for the expression of alpha1 (1) collagen gene in fibrotic skin disorders
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批准号:06670889
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项目类别:Grant-in-Aid for General Scientific Research (C)
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资助金额:$1.34万
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财政年份:1994
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负责人:HATAMOCHI Atsushi
-
依托单位:
Regulation of Type I Collagen Gene Expression in Fibrotic Skin Disorders
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批准号:01570580
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项目类别:Grant-in-Aid for General Scientific Research (C)
-
资助金额:$1.34万
-
财政年份:1989
-
负责人:HATAMOCHI Atsushi
-
依托单位:
海外基金