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.
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.
118 citations
,
January 2016 in “Current Topics in Developmental Biology” This essay discusses the establishment, maintenance, and role of skin stem cells in tissue homeostasis, wound repair, and their relation to skin cancer, without reporting new experimental findings.
39 citations
,
April 2020 in “Clinical, Cosmetic and Investigational Dermatology” This review discusses the unique characteristics and disorders of Asian hair, emphasizing the need for more comprehensive studies in this area.
35 citations
,
April 2014 in “American Journal of Medical Genetics” The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.
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.
30 citations
,
June 2014 in “Seminars in Immunology” This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.
15 citations
,
May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
September 2023 in “Asian journal of beauty & cosmetology” In this review paper, the authors explored the composition and role of lipids in human hair, highlighting their importance for hair texture, moisture retention, and tensile strength, while noting that the understanding of hair lipids' functions remains controversial and requires further research.
340 citations
,
September 2014 in “PLOS Genetics” This study found that while genetic ancestry affects physical appearance traits in Latin American populations, it accounts for only a modest portion of the observed variation.
196 citations
,
March 2016 in “Nature Communications” In this study, researchers identified 18 genetic associations with scalp and facial hair traits in Latin Americans, including novel loci for hair greying and balding, with implications for understanding hair evolution.
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.
36 citations
,
September 2015 in “Forensic Science International: Genetics” This study found that specific DNA variants in the TCHH, WNT10A, and FRAS1 genes are associated with predicting straight hair in Europeans, showing high sensitivity but low specificity, especially using a neural networks approach.
5 citations
,
June 2016 in “Twin research and human genetics” In this study, heritability analyses in twins and siblings revealed that genetic factors predominantly influence hair diameter and curvature, with notable sex differences in their genetic impact.
December 2025 in “GeroScience” This study found that both genetic and epigenetic factors significantly influence age-related facial skin aging, with lifestyle and environmental factors also playing a substantial role.
November 2006 in “評価・診断に関するシンポジウム講演論文集” This study found that KSR1 is essential for v-Ha-ras-mediated skin tumor formation in mice but not for MT-driven mammary tumor genesis, suggesting its potential as a therapeutic target in Ras/MAPK signaling.
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
,
January 2024 in “Animal Research and One Health” This commentary highlights the potential of using transgenic and genome-edited mouse models to validate findings from livestock genomic and multi-omic analyses, aiding in the understanding of economically significant animal traits.
January 2025 in “British Journal of Dermatology” This study proposes that the ability of humans to grow long scalp hair is linked to the evolutionary adjustment of molecular checkpoints that regulate the hair growth cycle, potentially influenced by its roles in communicating age, maturity, and social signals.
6 citations
,
August 2022 in “International Journal of Molecular Sciences” This review summarizes the role of Ectodysplasin A signaling in skin appendage development and various diseases, noting potential clinical applications but reporting no new research findings.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
This article reviews approved treatments for androgenetic alopecia and reports no new research findings, highlighting the need for further studies.
24 citations
,
February 2011 in “The American journal of pathology” This study found that AIRE, a usually nuclear protein, is expressed in the cytoplasm of human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17, potentially impacting ectodermal abnormalities in APECED syndrome.
32 citations
,
May 2018 in “The Plant Cell” This article discusses the crucial role of root hairs in water and nutrient uptake from soil and reports no new findings.
67 citations
,
August 2004 in “Endocrinology” This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.
4 citations
,
August 1999 in “Clinical Cosmetic and Investigational Dermatology” This study highlights the potential role of the CYP21A2 and CYP19A1 genes in severe acne vulgaris among Han Chinese, especially males.
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.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.