4 citations
,
January 2014 in “The Journal of urology/The journal of urology” This study found that folliculin deficient renal cancer cells were more sensitive to irradiation due to increased autophagic cell death, suggesting a potentially enhanced therapeutic approach when combined with autophagy inducers like rapamycin.
1 citations
,
September 2021 in “Dermatologic Therapy” The researchers reported that intralesional botulinum toxin A effectively alleviated pain associated with cutaneous leiomyomas in a patient with hereditary leiomyomatosis and renal cell cancer syndrome, with repeated treatments every three months maintaining pain relief over 1.5 years.
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.
January 2024 in “JCEM case reports” In this clinical case report, a man with Birt Hogg Dube syndrome presented with parathyroid cancer, the first such case according to the authors, highlighting a potential link between Folliculin gene mutations and parathyroid cancer development.
29 citations
,
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.