Article
Unique mutation, accelerated mTOR signaling and angiogenesis in the pulmonary cysts of Birt-Hogg-Dubé syndrome.
Pathology international - 1 Jan 2013
Nishii Teppei, Tanabe Mikiko, Tanaka Reiko, Matsuzawa Tetsuhiro, Okudela Koji, Nozawa Akinori, Nakatani Yukio, Furuya Mitsuko
Abstract excerpt
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder characterized by fibrofolliculomas, renal tumors and pulmonary cysts with repeated pneumothorax. This disorder is caused by mutations in the gene that encodes folliculin (FLCN). FLCN is known to be involved in the signaling of mammalian target of rapamycin (mTOR). We investigated the lung of a BHD patient who presented with a unique mutation. A...
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