{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hasumi H"],"funding":["KAKENHI","National Bioscience Database Center","Project for Development of Innovative Research on Cancer Therapeutics","Frederick National Laboratory for Cancer Research","Department of Health and Human Services","JST","National Institutes of Health","NIH","Intramural Research Program","JSPS","Center for Cancer Research","CCR NIH HHS","NCI","NBDC","National Cancer Institute","NCI NIH HHS","Japan Science and Technology Agency","Ministry of Education, Culture, Sports, Science and Technology of Japan"],"pagination":["2712-2724"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6048985"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["27(15)"],"pubmed_abstract":["Birt-Hogg-Dubé (BHD) syndrome is a hereditary kidney cancer syndrome, which predisposes patients to develop kidney cancer, cutaneous fibrofolliculomas and pulmonary cysts. The responsible gene FLCN is a tumor suppressor for kidney cancer, which plays an important role in energy homeostasis through the regulation of mitochondrial oxidative metabolism. However, the process by which FLCN-deficiency leads to renal tumorigenesis is unclear. In order to clarify molecular pathogenesis of BHD-associated kidney cancer, we conducted whole-exome sequencing analysis using next-generation sequencing technology as well as metabolite analysis using liquid chromatography-mass spectrometry and gas chromatography-mass spectrometry. Whole-exome sequencing analysis of BHD-associated kidney cancer revealed tha"],"journal":["Human molecular genetics"],"pubmed_title":["BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes."],"pmcid":["PMC6048985"],"funding_grant_id":["HHSN261200800001E","15551829","HHSN261200800001C","16K11020","15K10600","15604475"],"pubmed_authors":["Muraoka K","Kawahara T","Jikuya R","Nagashima Y","Suzuki K","Osaka K","Makiyama K","Hasumi H","Otake S","Hayashi N","Uemura H","Metwalli AR","Furuya M","Nakaigawa N","Hasumi Y","Linehan WM","Aburatani H","Yao M","Schmidt LS","Yamamoto S","Miyoshi Y","Isono Y","Yumura Y","Teranishi J","Tatsuno K","Baba M","Izumi K","Kondo K"],"additional_accession":[]},"is_claimable":false,"name":"BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes.","description":"Birt-Hogg-Dubé (BHD) syndrome is a hereditary kidney cancer syndrome, which predisposes patients to develop kidney cancer, cutaneous fibrofolliculomas and pulmonary cysts. The responsible gene FLCN is a tumor suppressor for kidney cancer, which plays an important role in energy homeostasis through the regulation of mitochondrial oxidative metabolism. However, the process by which FLCN-deficiency leads to renal tumorigenesis is unclear. In order to clarify molecular pathogenesis of BHD-associated kidney cancer, we conducted whole-exome sequencing analysis using next-generation sequencing technology as well as metabolite analysis using liquid chromatography-mass spectrometry and gas chromatography-mass spectrometry. Whole-exome sequencing analysis of BHD-associated kidney cancer revealed tha","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Aug","modification":"2025-05-29T21:59:39.732Z","creation":"2025-05-29T21:59:39.732Z"},"accession":"S-EPMC6048985","cross_references":{"pubmed":["29767721"],"doi":["10.1093/hmg/ddy181"]}}