60 citations
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September 2023 in “Science” BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.
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January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” FLCN helps control iron levels in cells.
166 citations
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November 2008 in “Expert Review of Endocrinology & Metabolism” Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
September 2025 in “Development” Nelfb is crucial for forming skin fat tissue by regulating genes needed for fat cell development.
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.
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.
23 citations
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September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” NF-κB is crucial for different stages and types of hair growth in mice.
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
2 citations
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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.
8 citations
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August 1987 in “The Journal of Dermatology” BKN-1 antibody targets specific keratin in basal cell epithelioma and normal skin basal cells.
December 2011 in “The Diabetes Educator” The Blood Glucose Management Service improved patient safety and outcomes in managing blood sugar in hospitalized patients.
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.
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August 2021 in “Aging” Berberine may reduce prostate enlargement by blocking inflammation.
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January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
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.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
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January 2020 in “PubMed” Early detection and biotin treatment improve outcomes for biotinidase deficiency.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
104 citations
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July 1994 in “The Journal of Cell Biology” Basonuclin helps keratinocytes multiply and prevents them from fully maturing.
85 citations
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October 2015 in “Proceedings of the National Academy of Sciences of the United States of America” NF-κB is crucial for zebrafish heart repair, affecting heart cell growth and repair processes.
14 citations
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June 1982 in “Archives of Dermatology” A man had bad reactions to a hair loss treatment called DNCB.
February 2026 in “Diabetes Metabolic Syndrome and Obesity” Higher basal metabolic rate increases the risk of non-alcoholic fatty liver disease, especially in Chinese people, and may require tailored management.
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October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
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September 1999 in “Journal of Cell Science” Basonuclin may help control ribosomal RNA gene activity in skin cells.
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August 2019 in “Journal of Molecular Histology” NFIC helps rat dental cells grow and turn into bone-like cells.
48 citations
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August 2018 in “Nature Communications” JunB is crucial for maintaining healthy skin and hair follicles.
1 citations
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October 2023 in “European Journal of Dermatology” Combining hair transplantation with PRP is more effective for treating hair loss than hair transplantation alone.