89 citations
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August 2008 in “Human genetics” This study found that the EDAR 1540T/C genetic variant is significantly associated with hair thickness variation in Japanese populations, enhancing previously observed associations in Southeast Asian groups.
1 citations
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April 2023 in “Animals” This study utilized EDAR gene-targeted cashmere goats to identify 732 differentially expressed genes and 140 proteins associated with abnormal hair growth, providing insights into the regulatory mechanisms of cashmere follicle development.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
12 citations
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December 2020 in “Archives animal breeding/Archiv für Tierzucht” This study found that EDA and EDAR are expressed throughout cashmere goat fetal development and play a critical role in hair follicle formation by influencing gene expression in fibroblasts and epithelial cells.
98 citations
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June 2008 in “Human mutation” This study found that a genetic variant in the EDAR gene leads to typical East Asian hair characteristics by increasing signaling output, as shown in transgenic mice experiments.