387 citations
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November 2003 in “Journal of Investigative Dermatology” The K15 promoter effectively targets stem cells in the hair follicle bulge.
198 citations
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March 1999 in “Journal of Investigative Dermatology” Keratin 15 helps maintain tissue integrity and is reduced in activated keratinocytes.
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November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
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March 1998 in “Oncogene” Overexpression of E2F1 can lead to skin tumors and disrupt hair growth.
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October 2017 in “Scientific Reports” Far-infrared radiation improves stem cell growth and movement, helping heart therapy.
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February 2002 in “Current Opinion in Cell Biology” Keratin filaments are crucial for cell structure and protection, with ongoing discoveries about their genes and functions.
475 citations
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October 2006 in “Proceedings of the National Academy of Sciences” Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
January 2025 in “Kuwait Journal of Science” KRT71 gene variants may influence camel hair shape but don't fully explain it.
January 2015 in “DukeSpace (Duke University)” Transferrin receptor 1 is essential for normal function in the intestines, pancreas, and skin.
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October 1999 in “Differentiation” Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
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March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
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July 2021 in “UNC Libraries” Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
April 2023 in “Journal of Investigative Dermatology” Two new IRAK4-inhibitors effectively reduced skin inflammation and immune response markers in healthy volunteers.
Defective protein folding due to a mutation is key in ANE syndrome.
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May 2003 in “American Journal of Pathology” Prolactin affects hair growth cycles and can cause early hair follicle regression.
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March 2014 in “Nature Communications” Skin tumor regression is helped by retinoic acid signaling blocking Wnt signaling.
PIKFyve is essential for normal platelet function and its deficiency causes organ issues and macrophage infiltration.
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March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
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June 2005 in “British Journal of Dermatology” Calretinin identifies the companion cell layer in human hair follicles.
February 2024 in “Plant Cell Reports” AtVPS29 is essential for proper plant growth by regulating gibberellin signaling.
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
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March 2019 in “Experimental dermatology” Activating TLR3 may help produce retinoic acid, important for tissue regeneration.
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January 1995 in “Journal of Investigative Dermatology” RU58841, a substance from France, can potentially block the effects of hormones that cause hair loss and excessive hair growth, performing better than a similar substance, cyproterone acetate.
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May 2023 in “Pigment Cell & Melanoma Research” BMI1 is essential for preventing hair greying and maintaining hair color.
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August 1984 in “Journal of Investigative Dermatology” 13 citations
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November 2007 in “Journal of Structural Biology” Keratin heterodimers are preferred for their specific and structural advantages.