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January 2013 in “Lung India” Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
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July 2014 in “Autophagy” The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
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February 2007 in “The Journal of Pathology” Somatic BHD mutations are rare in Japanese renal tumors.
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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.
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May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
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May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
36 citations
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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
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June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
July 2025 in “Clinical Dermatology Review” A rare family case of multiple benign hair follicle tumors was identified, highlighting the need to distinguish them from similar conditions.
January 2024 in “Frontiers research topics” Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
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May 2022 in “Pediatric Critical Care Medicine” The patient recovered well and returned to college without any lasting issues.
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May 2018 in “EMBO journal” Phosphorylation controls TFEB's location in the cell, affecting cell metabolism and stress response.
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
64 citations
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February 2008 in “Cancer Research” Inactivating both p53 and Rb genes in mice speeds up aggressive skin cancer development.
51 citations
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March 2014 in “Nature Communications” Skin tumor regression is helped by retinoic acid signaling blocking Wnt signaling.
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November 2017 in “Biomaterials” Researchers found a new way to create hair-growing structures in the lab that can grow hair when put into mice.
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February 2008 in “Journal of Dermatological Science” EPR spectroscopy showed that spontaneous hair growth results in thicker skin and less pigmented hair than depilation-induced growth.
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August 1979 in “PubMed” Adding zinc to marmosets' water improved their health, indicating their diet lacked enough zinc.
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May 1984 in “Digestive diseases and sciences” A young woman's Cronkhite-Canada syndrome improved on its own after she gave birth.
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March 2019 in “Pharmacology Research & Perspectives” In Singapore, most skin reactions to drugs were in females and Chinese, often caused by painkillers, antibiotics, and some other drugs, with serious cases linked to genetics.
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June 2018 in “Australasian journal of dermatology” Eight people with severe hair loss grew their hair back naturally.
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February 2018 in “Human Reproduction” A man with testotoxicosis was fertile despite low FSH levels, suggesting high testosterone may allow sperm production without FSH.
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October 2018 in “Skin appendage disorders” A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
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November 1995 in “American Journal of Obstetrics and Gynecology” Taking vitamin B6 corrected a pregnant woman's metabolic disorder, which changed her hair color.
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August 2022 in “JAAD Case Reports” A woman's complete hair loss condition improved after recovering from COVID-19.
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July 1935 in “Nature” Animal hair can curl tightly on its own, especially in foxes, due to changes in keratin.
October 2025 in “Acta Dermato Venereologica” Spontaneous hair regrowth in alopecia areata is possible but varies greatly among individuals.
July 2024 in “Journal of Investigative Dermatology” Spontaneous keloids may be linked to nephrogenic systemic fibrosis in dialysis patients.
March 2024 in “Veterinary sciences” Geriatric Julia Creek dunnarts often suffer from reproductive and skin diseases, impacting conservation efforts.
Aged Julia Creek dunnarts suffer from reproductive and hormonal issues, aiding conservation efforts.