February 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
60 citations
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July 2014 in “Autophagy” The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
October 1999 in “The Journal of Urology” New treatments and diagnostic methods for urological conditions show promise, but some lack sufficient accuracy for clinical use.
7 citations
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September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
234 citations
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September 2004 in “Clinical cancer research” BAY 43-9006 helps control kidney cancer growth but doesn't significantly increase overall survival.
31 citations
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January 2018 in “Pediatric annals” Early adrenal gland maturation in young children can be normal, but other serious conditions should be ruled out first.
10 citations
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May 1995 in “Journal of General Internal Medicine” Most women with excessive hair growth have PCOS; treatment varies and focuses on preventing new hair, with electrolysis as the only permanent removal method.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
3 citations
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April 2023 in “Frontiers in Pharmacology” ATP-sensitive K+ channel subunits, particularly Sur2A, play a significant role in various cancers.
39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
16 citations
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March 2005 in “Journal of The American Academy of Dermatology” A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
3 citations
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March 2005 in “Journal of the American Academy of Dermatology” The lotion and shampoo effectively treated scalp seborrheic dermatitis.
81 citations
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November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
1 citations
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January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” FLCN helps control iron levels in cells.
48 citations
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June 2020 in “Current Rheumatology Reports” Different types of fibroblasts play various roles in both healthy and diseased tissues, and understanding them better could improve treatments for fibrotic diseases.
9 citations
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January 1992 in “Journal of Investigative Dermatology” Sugar molecule helps hair growth, less in balding, returns with treatment.
1 citations
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June 2021 in “Computer methods and programs in biomedicine” Children with cancer had slightly more unusual facial shapes than healthy kids, but not enough to easily tell them apart.
99 citations
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May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
253 citations
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May 2006 in “The Journal of Clinical Endocrinology and Metabolism” Exposure to too much androgen before birth might cause polycystic ovary syndrome later in life.
27 citations
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March 2012 in “Dermatologic Therapy” Taking zinc supplements can help improve or cure hair loss caused by zinc deficiency.
56 citations
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April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
16 citations
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March 2011 in “Ophthalmic genetics” A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
2 citations
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September 2010 in “Journal of the Dermatology Nurses’ Association” Transplant patients on immunosuppressive medications have a higher risk of skin cancer, and managing this involves balancing medication with cancer risk.
2 citations
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November 2011 in “InTech eBooks” Most adrenal cortex tumors are benign and non-secreting, but proper diagnosis and treatment are important due to the rare possibility of cancer.
5 citations
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January 2013 in “Journal der Deutschen Dermatologischen Gesellschaft” The document concludes that individualized treatment for malignant epithelial tumors is necessary and more research on metastatic squamous cell carcinoma treatments is needed.
16 citations
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February 2019 in “Pediatric Blood & Cancer” Most children with CNS tumors on targeted therapy had skin reactions, which were generally treatable without stopping the therapy.
April 2007 in “Nature Clinical Practice Urology” TICE salvage chemotherapy is effective for treating germ-cell tumors with poor prognosis.
65 citations
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February 2015 in “Neuro-Oncology” Alisertib was found to be an effective and tolerable treatment for children with recurrent brain tumors.
4 citations
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January 2001 in “Archives of Biochemistry and Biophysics” Activated ras can protect kidney cells from a certain substance that causes cell death.