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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク CARASIL ： ウィキペディア英語版 CARASIL CARASIL, Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, is an inherited disease with symptoms of stroke, hair loss, and low back pain.〔(【引用サイトリンク】url=http://www.omim.org/entry/600142 )〕 The disease is rare and has only been diagnosed in about 50 patients, mostly of Japanese descent but few of Chinese〔Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. (2011). Retrieved 1/28, 2015〕 and Spanish descent.〔Carasil. (2013). Retrieved 1/28, 2015, from http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=199354〕 There is currently no cure for CARASIL.〔Fukutake, T. (2010). Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): From discovery to gene identification. Journal of Stroke and Cerebrovascular Diseases, 20(2), 85-86,87,88,89,90,91.〕 == Genetics == CARASIL is caused by a deletion or duplication of the HTRA1 gene and involves an autosomal recessive inheritance.〔 HTRA1 is located on chromosome 10〔 and encodes an enzyme that regulates signaling by the TGF-β family of proteins. TGF-β plays an important role in cellular functions, specifically angiogenesis.〔 Those affected with CARASIL display mutant proteins unable to suppress TGF-β activity.〔 Increase in TGF-β1 has been seen in the tunica media of affected small arteries.〔 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「CARASIL」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.