Zobrazeno 1 - 10
of 37
pro vyhledávání: '"FOLLICULIN (FLCN)"'
Autor:
Ryosuke Jikuya, Todd A. Johnson, Kazuhiro Maejima, Jisong An, Young-Seok Ju, Hwajin Lee, Kyungsik Ha, WooJeung Song, Youngwook Kim, Yuki Okawa, Shota Sasagawa, Yuki Kanazashi, Masashi Fujita, Seiya Imoto, Taku Mitome, Shinji Ohtake, Go Noguchi, Sachi Kawaura, Yasuhiro Iribe, Kota Aomori, Tomoyuki Tatenuma, Mitsuru Komeya, Hiroki Ito, Yusuke Ito, Kentaro Muraoka, Mitsuko Furuya, Ikuma Kato, Satoshi Fujii, Haruka Hamanoue, Tomohiko Tamura, Masaya Baba, Toshio Suda, Tatsuhiko Kodama, Kazuhide Makiyama, Masahiro Yao, Brian M. Shuch, Christopher J. Ricketts, Laura S. Schmidt, W. Marston Linehan, Hidewaki Nakagawa, Hisashi Hasumi
Publikováno v:
EBioMedicine, Vol 92, Iss , Pp 104596- (2023)
Summary: Background: Birt-Hogg-Dubé (BHD) syndrome, caused by germline alteration of folliculin (FLCN) gene, develops hybrid oncocytic/chromophobe tumour (HOCT) and chromophobe renal cell carcinoma (ChRCC), whereas sporadic ChRCC does not harbor FLC
Externí odkaz:
https://doaj.org/article/1a1f190403a54532b17c7529b2ef813d
Publikováno v:
Frontiers in Oncology, Vol 12 (2022)
Birt–Hogg–Dube syndrome is an autosomal dominant condition that arises from germline folliculin (FLCN) mutations. It is characterized by skin fibrofolliculomas, lung cysts, pneumothorax, and renal cancer. Here, we present the case of a 36-year-ol
Externí odkaz:
https://doaj.org/article/c10405ae04194d489645fd14bf459729
Akademický článek
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Publikováno v:
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-6 (2018)
Abstract 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 m
Externí odkaz:
https://doaj.org/article/9a4127050b52436394df33fb4a0903ed
Publikováno v:
Chinese Journal of Cancer, Vol 36, Iss 1, Pp 1-4 (2017)
Abstract Birt–Hogg–Dubé (BHD) syndrome, a hereditary renal cancer syndrome caused by mutations in the folliculin (FLCN) gene, is characterized by the presence of fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cell carcin
Externí odkaz:
https://doaj.org/article/6180947d6ac0485e979ccd337892bbfc
Akademický článek
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Akademický článek
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Autor:
Baba, Masaya, Endoh, Mitsuhiro, Ma, Wenjuan, Toyama, Hirofumi, Hirayama, Akiyoshi, Nishikawa, Keizo, Takubo, Keiyo, Hano, Hiroyuki, Hasumi, Hisashi, Umemoto, Terumasa, Hashimoto, Michihiro, Irie, Nobuko, Esumi, Chiharu, Kataoka, Miho, Nakagata, Naomi, Soga, Tomoyoshi, Yao, Masahiro, Kamba, Tomomi, Minami, Takashi, Ishii, Masaru, Suda, Toshio
Publikováno v:
Journal of Bone and Mineral Research
Osteoclast differentiation is a dynamic differentiation process, which is accompanied by dramatic changes in metabolic status as well as in gene expression. Recent findings have revealed an essential connection between metabolic reprogramming and dyn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ef20c0f863641e969aa7207d34365e9e
http://europepmc.org/articles/PMC6220829
http://europepmc.org/articles/PMC6220829
Publikováno v:
BMC Medical Genomics
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-6 (2018)
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-6 (2018)
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 mutation w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::182a0f484704bd32d6a9cc201318cc56
http://europepmc.org/articles/PMC5930857
http://europepmc.org/articles/PMC5930857
Autor:
Yoji Nagashima, Kiyotaka Nagahama, Yukio Nakatani, Mitsuko Furuya, Masahiro Yao, Seung-Beom Hong, Reiko Tanaka, Naoto Kuroda, Takahito Suyama
Publikováno v:
Cancer Science
Birt–Hogg–Dube syndrome (BHD) is an inherited disorder associated with a germline mutation of the folliculin gene (FLCN). The affected families have a high risk for developing multiple renal cell carcinomas (RCC). Diagnostic markers that distingu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a72cf6530f5e8ec5b3ffad7bcf849214
https://pubmed.ncbi.nlm.nih.gov/25594584
https://pubmed.ncbi.nlm.nih.gov/25594584