24 citations
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June 2012 in “BMC Research Notes” The HGCA tool helps identify genes that work together by analyzing their co-expression patterns.
26 citations
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October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
52 citations
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October 1995 in “Experimental Cell Research” Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
178 citations
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October 2001 in “Genes & Development” The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
6 citations
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April 2023 in “Current Issues in Molecular Biology” A specific gene variant may increase the risk of developing Alopecia Areata.
10 citations
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September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
210 citations
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February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
1 citations
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September 2020 in “Journal of Dermatological Science” The gene LRRC15 is more active in balding areas of the scalp compared to non-balding areas.
106 citations
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March 2013 in “Nature Communications” A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
13 citations
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September 2012 in “Cell & tissue research/Cell and tissue research” pCLCA2 protein may help maintain skin structure and function.
September 2025 in “Indian Journal of Dermatology” A Turkish woman has a hair condition caused by a LIPH gene mutation.
July 2026 in “Journal of the American Academy of Dermatology”
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
6 citations
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January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
1 citations
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June 2022 in “Experimental dermatology” The SHJH hr mice with a mutated Hr gene show signs of faster skin aging due to poor antioxidative protection.
26 citations
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March 2006 in “Endocrine, metabolic & immune disorders. Drug targets” This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.
July 2022 in “Journal of Investigative Dermatology” Cyclohexyl salicylate promotes human hair growth and increases certain hair follicle stem cell progeny.
9 citations
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February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
16 citations
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April 2024 in “Proceedings of the National Academy of Sciences” HDAC4 and HDAC7 are crucial for Th17 cell development and could be targeted to treat inflammatory diseases.
8 citations
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February 2020 in “Journal of Drug Delivery Science and Technology” Encapsulating chlorogenic acid in nanoparticles boosts type 17 collagen production, potentially aiding skin care.
4 citations
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October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
2 citations
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April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
6 citations
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June 2016 in “Journal of cellular biochemistry” The Hr protein binds to DNA, interacts with p53, and affects cell cycle genes.