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.
170 citations
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November 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in the absence of hair follicles, cutaneous wounds in mice showed delayed reepithelialization but eventually achieved normal wound closure after expanding the activated epidermis region.
30 citations
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June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
29 citations
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December 2016 in “The EMBO Journal” This study found that the transcription factor Gata6 plays a crucial role in adult mouse hair follicle regeneration by promoting the renewal and preventing DNA damage of rapidly proliferating progenitor cells.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.