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.
16 citations
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December 2006 in “International Journal of Dermatology” This clinical case study describes an aggressive squamous cell carcinoma developing within a giant epidermal cyst on the abdomen.
28 citations
,
December 2011 in “Biocatalysis and biotransformation” This study found that a peptide treatment using Protein disulphide isomerase improved the mechanical and thermal properties of over-bleached hair by promoting deeper peptide penetration and attachment.
13 citations
,
July 2019 in “Toxicology research” In this study, ethanamizuril was found to cause alopecia, biochemical changes, and organ damage at higher doses in rats, with a no-observed-adverse-effect level of 20 mg/kg over 30 days.
119 citations
,
November 2014 in “Trends in Cell Biology” This review discusses the mechanisms and pathways of FGFR signalling and its roles in development, disorders, and therapeutic targeting, but reports no new clinical results.
7 citations
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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.
24 citations
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May 2006 in “Proceedings of the National Academy of Sciences of the United States of America” This study reported that heterozygosity for FHIT affects mice's susceptibility to spontaneous alopecia areata and to certain preneoplastic lesions induced by benzo[a]pyrene, but does not change how they respond to budesonide and N-acetyl-L-cysteine.
99 citations
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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.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study describes a novel cancer therapy, ONCO-NK-TRANSITION-GM1, that offers a 60-80% cure rate across multiple cancer types using existing pharmaceutical manufacturing technologies, and costs $50 per dose, presenting a more accessible alternative to current therapies.
1 citations
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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.
39 citations
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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.
475 citations
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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.
12 citations
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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.
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.
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.
January 2016 in “Electronic Theses of LMU Munich (Ludwig-Maximilians-Universität München)” FDG PET/CT can improve cancer treatment plans in dogs.
July 2023 in “Dermatology practical & conceptual” Some lung cancer patients treated with EGFR inhibitors may develop a hair loss condition similar to folliculitis decalvans.
May 2025 in “The Journal of Rheumatology” This case report highlights a rare instance of diffuse alveolar hemorrhage in a patient with catastrophic antiphospholipid syndrome, emphasizing the importance of early recognition and multidisciplinary management.
January 2024 in “Wiadomości Lekarskie” This source describes the implementation of a province-wide lung cancer screening program in Ontario, emphasizing that organized, program-based low-dose CT screening for high-risk populations is seen as more effective in reducing cancer incidence and mortality, while being cost-effective compared to non-organized screenings.
4 citations
,
December 2013 in “Acupuncture and related therapies” This review summarizes the potential of N-acetyl-cysteine in managing diseases linked to redox imbalance, discussing its effects from cellular mechanisms to clinical applications, though further research is suggested for broader use.
40 citations
,
November 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that the S100A3 gene is exclusively expressed in hair follicle cells differentiating into hair shaft components in mice, suggesting its important role in hair formation.
3 citations
,
May 2024 in “Amino Acids” This review identifies cysteine's central role in hair growth and its potential impact on Alopecia Areata's pathogenesis, suggesting examination of cysteine metabolism might clarify the disease's underlying mechanisms and lead to new treatments.
14 citations
,
January 2001 in “Current Treatment Options in Oncology” Treat limited stage small cell lung cancer with chemotherapy and radiation, and consider preventive brain radiation for better survival chances.
165 citations
,
September 2001 in “Genes & development” This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.
45 citations
,
January 2020 in “International Journal of Molecular Sciences” This review discusses the potential of plant polyphenols to overcome multidrug resistance in various solid cancers and reports no new experimental results; further research is suggested.
14 citations
,
January 2004 in “Journal of Biochemical and Molecular Toxicology” This study found that sudden hair loss in guinea pigs may serve as a potential biomarker for subacute exposure to mustard gas, and pre-treatment with N-acetylcysteine could prevent this hair loss.
25 citations
,
August 2014 in “Endocrinology” This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.
6 citations
,
February 2021 in “Journal of Ovarian Research” In this study, 150 kHz electromagnetic radiation reduced the number and size of follicular cysts in a rat model of polycystic ovary syndrome without causing significant morphological damage to developing follicles.
5 citations
,
January 2021 in “Frontiers in cell and developmental biology” This paper discusses the multipotency of cyst cells and proposes that understanding molecular circuits in cyst formation could enable engineering of desired stem cell culture phenotypes, but reports no new experimental outcomes.
January 2006 in “Advances in developmental biology” This review discusses the roles of the hairless (HR) protein as a corepressor, particularly its impact on RORα-mediated transcriptional repression, and reports no new experimental findings.