29 citations
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June 2015 in “Kidney International” This study developed a kidney-specific knockout mouse model lacking the Flcn gene, which recapitulates human Birt-Hogg-Dubé kidney tumorigenesis and shows that mTOR pathway inhibition with rapamycin can suppress tumor growth.
January 2013 in “Kidney international” This report describes a clinical case of a 38-year-old man diagnosed with Birt-Hogg-Dubé syndrome, confirmed by genetic testing, highlighting the presentation of multiple renal tumors and bilateral lung cysts.
7 citations
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November 2016 in “Oncotarget” This study found that Lgr6+ stem cells in mice are not major initiators of UV- or chemically induced skin tumors.
January 2011 in “Revista Portuguesa de Endocrinologia Diabetes e Metabolismo” This article presents a case of congenital adrenal hyperplasia and myelolipoma in a 56-year-old woman, describing her symptoms and characteristics without offering new clinical results.
60 citations
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July 2014 in “Autophagy” This study found that autophagy is impaired in Birt-Hogg-Dubé syndrome-associated renal tumors and identified that the FLCN protein interacts with key autophagy components regulated by ULK1.