December 2021 in “Figshare” BBS7 is crucial for healthy gums and teeth by supporting cell and blood vessel function.
August 2018 in “Journal of Investigative Dermatology” A woman with dermatomyositis improved after treatment for neck panniculitis, suggesting similar treatment for related conditions.
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July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
April 2020 in “The FASEB journal” Poncirin is a promising inhibitor of Janus Kinase 3, potentially better than tofacitinib.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
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August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
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July 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” The study developed a 3D model that closely imitates remaining ovarian cancer after treatment and identified a potential drug targeting resistant cancer cells.
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December 2006 in “Gene Expression Patterns” Scube3 gene affects mouse embryo growth in multiple areas, but needs more research.
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February 2009 in “Journal of The American Academy of Dermatology” Pulsed dye laser treatment was effective for a skin condition resistant to other treatments.
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August 2016 in “Skin research and technology” 3D imaging shows clearer details of skin structure changes with age.
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March 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” The 14-3-3σ gene is essential for preventing hair loss.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
April 2025 in “Molecular Biology Reports” DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
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January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
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June 2020 in “Processes” CMX from Centipeda minima can significantly improve hair growth in mild to moderate balding.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
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July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
December 2021 in “Figshare” BBS7 is essential for healthy gums by supporting cell function and blood flow.
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.