475 citations
,
October 2006 in “Proceedings of the National Academy of Sciences” This study suggests that folliculin, mutated in Birt–Hogg–Dubé syndrome, and its partner FNIP1 may play a role in energy and nutrient sensing through the AMPK and mTOR pathways.
60 citations
,
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.
39 citations
,
October 2012 in “Familial cancer” This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.
33 citations
,
May 2015 in “JAMA Dermatology” This study identifies comedonal or cystic fibrofolliculomas as novel diagnostic clues for earlier recognition of Birt-Hogg-Dube syndrome, potentially facilitating timely surveillance of associated systemic complications.
12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” This article reports on three new cases of Birt–Hogg–Dubé Syndrome and emphasizes the role of genetic analysis in its diagnosis due to clinical challenges.
7 citations
,
September 2013 in “Familial cancer” This review discusses recent insights into Birt–Hogg–Dube syndrome, including the functions of the FLCN gene and clinical recommendations for screening and treatment, but it reports no new experimental results.
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.
2 citations
,
May 2006 in “Archives of Pathology & Laboratory Medicine” This case report describes a 40-year-old woman with Birt-Hogg-Dubé syndrome diagnosed with multiple chromophobe renal cell carcinomas, highlighting the importance of recognizing associated dermatologic lesions for early intervention.
1 citations
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January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that loss of the folliculin protein delays transferrin receptor recycling, leading to iron deficiency and suggesting a role in the mechanisms of Birt-Hogg-Dubé syndrome.
October 2023 in “Indian dermatology online journal” This report describes a case study of a 23-year-old female exhibiting multiple trichodiscomas, a type of benign tumor of the hair follicular discs common in familial cases and potentially linked to Birt-Hogg-Dube syndrome, though genetic testing was not performed due to financial constraints.
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.
72 citations
,
November 2012 in “PloS one” This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” This report suggests that patients with primary spontaneous pneumothorax should be evaluated for FLCN mutations, as they may indicate Birt-Hogg-Dube syndrome and associated cancer risks.
December 2012 in “Expert review of dermatology” This review summarizes current knowledge about Birt–Hogg–Dubé syndrome, discussing recent findings on its pathogenesis and treatment, but reports no new clinical results; the authors emphasize understanding its cutaneous manifestations.
99 citations
,
May 2013 in “Familial cancer” This article discusses the pulmonary manifestations of Birt-Hogg-Dubé syndrome, noting diagnostic challenges in differentiating it from other lung conditions, and underlines the need for further research on folliculin's role in cyst formation.
50 citations
,
February 2007 in “The Journal of Pathology” This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.
1 citations
,
January 2013 in “Lung India” This letter discusses how differentiating features in clinical and radiological findings can help distinguish pulmonary Langerhans cell histiocytosis and Birt-Hogg-Dube syndrome from lymphangioleiomyomatosis, noting overlapping symptoms but specific distinctive traits.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” This study found that FLCN deficiency in mice muscles led to increased mitochondrial biogenesis and a metabolic shift towards oxidative phosphorylation, with a similar advantage observed in FLCN-null kidney cancer cells.
16 citations
,
March 2011 in “Ophthalmic genetics” This case report documents a 63-year-old with Birt-Hogg-Dubé Syndrome who developed choroidal melanoma alongside multiple lid folliculomas, marking the first known association of these conditions.
4 citations
,
June 2019 in “International Journal of Dermatology and Venereology” This review discusses the link between metabolic syndrome and various inflammatory skin diseases and reports no new clinical results, emphasizing the importance of recognizing skin manifestations as early indicators of systemic metabolic disorders.
257 citations
,
July 2018 in “Obstetrics & Gynecology” This review discusses the various phenotypes and diagnostic challenges of polycystic ovary syndrome, highlighting its complex pathophysiology and associated health risks, and reports no new clinical results.
38 citations
,
September 2019 in “Chinese Medical Journal” This review discusses the cardiovascular risks associated with anabolic-androgenic steroid use and reports that, despite known toxic effects, further research is needed to clarify the causality of these risks.
21 citations
,
June 2019 in “Dermatologic Surgery” This research review found that platelet-rich plasma treatment generally produced successful hair regrowth in both androgenetic alopecia and alopecia areata, despite study differences that limited direct statistical comparison.
19 citations
,
October 2018 in “Medicine” In this meta-analysis, researchers found that moxibustion combined with oriental herbal medicine may improve pregnancy rates and other outcomes in women with polycystic ovary syndrome compared to western medication alone; however, the evidence is limited by the poor quality of included studies.
16 citations
,
July 2018 in “Dermatologic Surgery” In this study, iL-PRF injections produced significantly better clinical scores for androgenetic alopecia patients compared to controls, especially in those with more severe baseline conditions.
10 citations
,
January 2019 in “The Nurse Practitioner” This article reviews diagnostic and treatment guidelines for polycystic ovary syndrome, discussing how nurse practitioners can enhance patients' quality of life through education; it reports no new clinical results.
10 citations
,
August 2018 in “Dermatologic Surgery” This study found that 1,550-nm Er:Glass fractional laser treatment increased hair density and shaft diameter in patients with androgenetic alopecia, but did not up-regulate Wnt10A and IGF-1 mRNA expression.
9 citations
,
March 2020 in “Dermatologic Surgery” This study found that both FUE and FUT methods are equally effective in producing high-quality hair grafts, with FUE offering the advantage of less noticeable scarring compared to FUT.
8 citations
,
July 2020 in “Medicine” In this study, low-level light therapy using a new helmet-type device significantly increased hair density and thickness in patients with androgenetic alopecia, showing no adverse events or side effects, suggesting it may be a safe and effective treatment option for both sexes.