1 citations
,
November 2025 in “Aging Cell” This review discusses the role of the ectodysplasin A2 receptor as a biomarker and driver of ageing related to inflammation, and its potential therapeutic implications, but reports no new clinical findings.
208 citations
,
November 2000 in “Development” This study found that while Eda and Edar proteins interact in vitro, their roles in dental development differ, with downless mutant mice showing distinct tooth defects compared to tabby mutants.
117 citations
,
April 2008 in “Developmental biology” This study identified that Eda-A1 unexpectedly induces placode inhibitors dkk4 and lrp4, indicating the importance of tightly regulated signaling for proper ectodermal organ development.
98 citations
,
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.
89 citations
,
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.
82 citations
,
April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
71 citations
,
November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This review discusses the role of Edar signaling in hair follicle development and cycling, emphasizing its impact on cell fate, differentiation, and interactions with other pathways, but reports no new results.
43 citations
,
December 2006 in “The American journal of pathology” This study found that Edar signaling plays a role in regulating the hair cycle and apoptosis in hair follicle keratinocytes during the catagen phase in mice.
37 citations
,
April 2010 in “FEBS Letters” In this study, researchers reported that the activation of EDA2R by p53 leads to p53-dependent cell death in cancer cells and is involved in chemotherapy-induced hair loss.
28 citations
,
March 2010 in “British Journal of Dermatology” This abstract contains only supplementary material information and reports no new research findings.
12 citations
,
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.
5 citations
,
September 2015 in “BMC Medical Genetics” In this study, individuals with a c.1072C > T mutation in the EDAR gene showed more hair shaft deformations compared to non-mutation carriers, highlighting EDAR's role in hair follicle development.
4 citations
,
December 2012 in “Human Biology” In this study, researchers found that two dominant haplotypes in the EDA2R/AR intergenic region have likely been shaped by demographic changes and selection during human evolution, particularly notable in African and non-African populations.
2 citations
,
May 2023 in “Journal of Advanced Research” In this study, researchers identified two genetic mutations associated with producing finer and denser wool in fine-wool sheep, involving the genes KRT74 and EDAR, which may guide future breeding efforts to enhance wool quality.
1 citations
,
April 2025 in “Pediatria i Medycyna Rodzinna” This research re-analyzed single-cell gene expression data from a mouse model, confirming that certain genes involved in the EDA-EDAR and WNT pathways are crucial for skin appendage development, suggesting that their restoration may mitigate the effects of hypohidrotic ectodermal dysplasia in children.
1 citations
,
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.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” In this study, researchers propose that the EDAR V370A allele's positive selection in East Asian populations may be linked to stable aquatic resources from Late Pleistocene ecosystems in northern China, suggesting a "nutritional niche construction" framework where these resources offset the allele's metabolic costs.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study presents a hypothesis that the EDAR V370A allele was positively selected in East Asian populations due to the stable aquatic resources in Late Pleistocene northern China, which may have offset the allele's metabolic costs and provided a selective advantage.
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.
May 2022 in “Frontiers in Cell and Developmental Biology” This study identified that in pig embryos, the miR-29a-5p/EDAR/lncRNA627.1 ceRNA complex plays a critical role in inhibiting hair placode precursor cells proliferation and regulating hair placode formation through the suppression of EDAR expression, which may provide insights into similar mechanisms affecting human hair conditions.
38 citations
,
February 2012 in “British Journal of Dermatology” This study suggests that the AR/EDA2R locus may contribute to early-onset female pattern hair loss, but no association was found with the 20p11 locus.
January 2016 in “Research Explorer (The University of Manchester)” Activating the Eda/Edar pathway improves wound healing by enhancing hair follicle growth.
3 citations
,
August 2021 in “Research Square (Research Square)” This study found that increased mRNA expression of the Ectodysplasin-A2-Receptor, observed across multiple species and tissues, may exacerbate inflammation during aging, suggesting potential benefits of blocking EDA2R/EDA-A2 signaling.
30 citations
,
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.
207 citations
,
March 2012 in “Development” In this mouse study, researchers found that dermal Wnt signaling/β-catenin activity is essential for fibroblast proliferation and initiating hair follicle formation by interacting with epidermal Wnt ligands.
170 citations
,
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.
76 citations
,
May 2011 in “Cell death and differentiation” This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.
75 citations
,
January 2004 in “Molecular and Cellular Biology” In this study, EDA-A2 transgenic mice exhibited multifocal myodegeneration dependent on XEDAR, suggesting a potential role for XEDAR in skeletal muscle homeostasis.
58 citations
,
June 2018 in “Scientific reports” This study identified novel genetic associations with skin phenotypes such as age-spots, freckles, and hair characteristics in Japanese women, providing insights into the genetic basis of these traits.
48 citations
,
January 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified chemokine receptor ligands cxcl10 and cxcl11 as new hair-specific transcriptional targets of the Eda pathway, suggesting chemokine signaling plays a role in primary hair follicle patterning.