119 citations
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September 2000 in “Journal of Biological Chemistry” GKLF/KLF4 and Sp1 control Keratin 19 gene activity, influencing cancer-related changes.
39 citations
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July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
1 citations
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
8 citations
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January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
1 citations
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October 2023 in “BMC Genomics” miRNAs in the Dlk1-Gtl2 region may improve lamb fur quality.
January 2023 in “Indian dermatology online journal” A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
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.
46 citations
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November 1998 in “Experimental Cell Research” K15 gene is mainly active in the basal layers of hair follicles and epithelia, aiding early skin cell development.
April 2018 in “Journal of Investigative Dermatology” Id2 gene helps keep hair follicle stem cells inactive.
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.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
2 citations
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April 2019 in “Journal of Investigative Dermatology” Gasdermin A3 causes hair follicle stem cells to activate too early, leading to hair loss.
13 citations
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August 2020 in “Frontiers in Cell and Developmental Biology” Twist1 helps maintain important features of cells crucial for hair growth by working with Tcf4 and β-catenin.
March 2016 in “Experimental Dermatology” EGFR helps hair follicles transition properly by controlling Stathmin levels.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Key skin cell regulators and gene organization changes are crucial for skin cell development and could help treat skin disorders.
8 citations
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June 2012 in “PloS one” Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
31 citations
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October 2010 in “Progress in lipid research” LPA3 is crucial for embryo implantation and links LPA to prostaglandin signaling.
96 citations
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June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
76 citations
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May 2011 in “Cell death and differentiation” A20 protein is crucial for normal skin and hair development.
8 citations
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May 2017 in “IUBMB life” Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
December 2010 in “OhioLink ETD Center (Ohio Library and Information Network)” Sry may regulate fatty acid metabolism and shows different expression levels in rat tissues.
January 2026 in “MDPI (MDPI AG)” The hairy ear mutation in mice is linked to changes in gene expression affecting hair growth.
IL-18 signaling helps mature Tregs move into the thymus.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
7 citations
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January 2022 in “Molecules” Tectoridin helps human hair cells grow and makes mouse hair longer, suggesting it could treat hair loss.
12 citations
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June 2020 in “The anatomical record” miR-203a-3p helps hair follicle stem cells become specialized by targeting Smad1.
21 citations
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September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.
17 citations
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January 2019 in “International journal of biological sciences” Researchers used CRISPR/Cas9 to create a goat with a gene that increased cashmere production by 74.5% without affecting quality.
2 citations
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June 2024 in “Parasites & Vectors” Chronic T. gondii infection may harm male fertility.