72 citations,
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.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
47 citations,
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.
39 citations,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
January 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.
99 citations,
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.
16 citations,
July 2021 in “Histopathology” New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
November 2024 in “Journal of Investigative Dermatology” TGF-β signaling is essential for new hair growth after wounds.
4 citations,
January 2014 in “The Journal of urology/The journal of urology” Kidney cancer cells without folliculin are more sensitive to radiation due to increased self-eating cell death.
81 citations,
November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
60 citations,
July 2014 in “Autophagy” The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
12 citations,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
7 citations,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
29 citations,
June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
7 citations,
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.
1 citations,
January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” FLCN helps control iron levels in cells.
17 citations,
May 2018 in “BMC genomics” Researchers found genes and microRNAs that control curly fleece in Chinese Tan sheep.
318 citations,
January 2022 in “Signal Transduction and Targeted Therapy” The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
33 citations,
May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
October 2023 in “Indian dermatology online journal” The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
September 2023 in “Frontiers in medicine” The mTOR signaling pathway is crucial for hair health and targeting it may lead to new hair loss treatments.
344 citations,
May 2018 in “EMBO journal” Phosphorylation controls TFEB's location in the cell, affecting cell metabolism and stress response.
18 citations,
March 2015 in “Journal of Endocrinological Investigation” The research suggests that the ZP4 gene is linked to egg development in women with PCOS but requires more study to understand its role in infertility.
4 citations,
July 2014 in “International Journal of Dermatology” Twins had rare skin cysts likely due to genetics.
research Acne
2 citations,
May 2011 in “Harper's Textbook of Pediatric Dermatology” Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
20 citations,
July 2013 in “International Journal of Dermatology” Obesity increases the risk of skin infections, inflammatory conditions, and melanoma, but not basal cell carcinoma.
421 citations,
April 2012 in “The New England Journal of Medicine” Alopecia Areata is an autoimmune condition causing hair loss with no cure and treatments that often don't work well.
1 citations,
January 2019 in “Springer eBooks” Hidradenitis Suppurativa is a chronic skin condition best treated early with surgery for better outcomes and less recurrence.