翻訳と辞書 Words near each other ・ Pyeongtaek–Hwaseong Expressway ・ Pyeongtaek–Jecheon Expressway ・ Pyeongtaek–Siheung Expressway ・ Pyeongwon of Goguryeo ・ Pycnocornuta ・ Pycnocornuta pyrausta ・ Pycnocraspedum ・ Pycnodermellina ・ Pycnodonte ・ Pycnodontia ・ Pycnodontidae ・ Pycnodontiformes ・ Pycnodontis ・ Pycnodontoidea ・ Pycnodus ・ Pycnodysostosis ・ Pycnodytis ・ Pycnodytis erebaula ・ Pycnodytis irrigata ・ Pycnogonidae ・ Pycnogonum ・ Pycnogonum stearnsi ・ Pycnoloma ・ Pycnomma ・ Pycnomorphidiellus polyphagus ・ Pycnonemosaurus ・ Pycnoneura ・ Pycnonotus ・ Pycnopeziza ・ Pycnophallium Dictionary Lists mini英和辞書 mini和英辞書 Webster 1913 Latin-English FOLDOC Wikipedia English ウィキペディア

翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Pycnodysostosis ： ウィキペディア英語版 Pycnodysostosis Pycnodysostosis (from Greek: πυκνός (puknos) meaning "dense", ''dys'' ("defective"), and ''ostosis'' ("condition of the bone")), is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. ==Genetics== This is an autosomal recessive osteochondrodysplasia that maps to chromosome 1q21.〔 Deficiency of Cathepsin K, a cysteine protease in osteoclasts, is known to cause this condition. Cathepsin K became a much sought-after drug target in osteoporosis after the etiology of pycnodysostosis was discovered. The disease consistently causes short stature. The height of adult males with the disease is less than . Adult females with the syndrome are even shorter. The disease has been named Toulouse-Lautrec syndrome, after the French artist Henri de Toulouse-Lautrec, who may have had the disease. In 1996, the defective gene responsible for pycnodysostosis was located, offering accurate diagnosis, carrier testing and a more thorough understanding of this disorder. 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「Pycnodysostosis」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.