AIMS: Xp11 rearrangement in renal cell carcinoma (RCC) typically involves gene fusion to the gene encoding transcription factor E3 (TFE3), a member of the microphthalmia-associated transcription factor family on chromosome Xp11.2. Dual-colour brea...
Kana Matsumoto Naoko Udaka Hisashi Hasumi Noboru Nakaigawa Yoji Nagashima Reiko Tanaka Ikuma Kato Masahiro Yao Mitsuko Furuya
Pathology international 68 473-478 2018年5月 [査読有り]
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare genetic disorder characterized by cutaneous and uterine leiomyomatosis with RCC. This disorder is caused by a germline mutation in the fumarate hydratase (FH) gene, which encodes an...
Mitsuko Furuya Hironori Kobayashi Masaya Baba Takaaki Ito Reiko Tanaka Yukio Nakatani
BMC Medical Genomics 11(1) 42 2018年5月 [査読有り]
Background: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). Nearly 150 pathogenic mutations have been identified in FLCN. The most frequent pattern is a frameshift mutatio...
AIMS: Denosumab, a human monoclonal antibody directed against the receptor activator of nuclear factor-κB ligand (RANKL), is a therapeutic agent for giant cell tumour of bone (GCTB). Although some studies have reported that denosumab shrinks tumou...
Exophiala spinifera, a black yeast, rarely causes systemic infection, and only a very few cases of its infection by the invasion of internal organs or bones have been reported. We examined the ability of E. spinifera to invade bone t...
大学院国際学術研究院