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.
249 citations
,
May 2003 in “Developmental Biology” Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
6 citations
,
June 2021 in “Developmental biology” This study found that dermal EZH2 plays a crucial role in controlling fibroblast differentiation by regulating Wnt/β-catenin and retinoic acid signaling during skin development.
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.
January 2016 in “Texas ScholarWorks (Texas Digital Library)” This study suggests that the DORN1 receptor may play a role in eATP-induced changes in stomatal aperture in Arabidopsis thaliana, but not in the eADP signaling pathway.
12 citations
,
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.
25 citations
,
November 2018 in “Cell reports” This study found that the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.
November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.
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.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the Polycomb Repressive Complex 2, particularly its component Ezh2, is crucial in regulating dermal fibroblast differentiation and epidermal keratinocyte proliferation during murine skin development.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified novel genetic variants in APOE ε4 non-carriers associated with Alzheimer's disease age-of-onset, linking them to regulatory mechanisms like the unfolded protein response in the pathology of Alzheimer's and other degenerative diseases.
This study identified novel mutations associated with ectodermal dysplasias in Pakistani families, including a missense mutation in the KRTHB5 gene linked to pure hair-nail ectodermal dysplasias and mutations in the EDAR gene related to hypohidrotic ectodermal dysplasia.
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.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The study found that dermal EZH2 plays a crucial role in coordinating dermal fibroblast differentiation and epidermal development by modulating Wnt/β-catenin and retinoic acid signaling.
2 citations
,
July 2005 in “International Joint Conference on Artificial Intelligence” This study suggests that EREG, released from ORS cells, may promote hair growth by activating specific receptors and modulating ROS generation, offering a potential new treatment for hair loss.
9 citations
,
July 2020 in “Cell Proliferation” In this study, EREG promoted hair growth by activating specific receptors in cell and animal models, indicating it may be a potential treatment for hair loss.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
5 citations
,
July 2022 in “Genes” This study found that EGR1 promotes the proliferation of dermal papilla cells, suggesting its close association with hair follicle growth and 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.
28 citations
,
March 2010 in “British Journal of Dermatology” This abstract contains only supplementary material information and reports no new research findings.
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.
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.
20 citations
,
February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
2 citations
,
February 2023 in “Transgenic Research” In this study, the presence of the HPV11-E2 protein in transgenic mice was found to increase and vary the expression of a reporter gene in hair follicle bulge regions.
April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
82 citations
,
April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This commentary discusses the crucial role of the alternative splicing factor Esrp1 in maintaining skin barrier function and its association with skin diseases like atopic dermatitis and psoriasis, but reports no new clinical results.
150 citations
,
June 1999 in “Oncogene” 136 citations
,
March 1998 in “Oncogene” This study found that transgenic mice overexpressing E2F1 in their epidermis developed skin tumors, confirming in vivo that deregulated E2F1 activity can contribute to tumor development.