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.
17 citations
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August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
4 citations
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January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
1 citations
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November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
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.
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.
1 citations
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June 2019 in “Current developments in nutrition” This case study reports that pancreatic enzyme replacement and fatty acid supplementation improved symptoms of fat malabsorption and essential fatty acid deficiency in a patient with EDS-4.
6 citations
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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.
May 2020 in “Authorea (Authorea)” This review discusses the diverse functions and therapeutic potential of ectopic olfactory receptors throughout the body, emphasizing their roles in various cellular processes and potential in cancer detection and therapy, but reports no new clinical results.
August 2000 in “Microscopy and Microanalysis” This study used novel methods to detect and map iodine concentrations in pig skin, finding iodine present in the coating, stratum corneum, and tissue around hair follicles.
1 citations
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May 2013 in “Oncology Times” This narrative review reflects on the challenges faced by FDA's Oncologic Drugs Advisory Committee members, highlighting public pressure, decision-making complexity, and the evolving landscape of cancer drug development.
75 citations
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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.
January 2024 in “Brazilian Journal of Veterinary Pathology” In this case report, veterinarians observed a 16-year-old mare with symptoms including chronic weight loss, pruritus, muscle atrophy, and lameness, which gradually progressed to neurological issues despite initial treatment.
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.
109 citations
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October 2007 in “American Journal of Human Genetics” This study found that postnatal treatment with recombinant EDA normalized adult teeth, improved sweating, and restored normal lacrimation in dogs with XLHED, suggesting its potential as a treatment for the condition.
March 2026 in “Calcified Tissue International” This review discusses the complex role of the EDA pathway in vertebrate skeletal development, emphasizing its interaction with other morphogenic pathways to influence skeletal diversity, but reports no new experimental results.
January 2012 in “Journal of Northwest A & F University” In this study, the researchers observed that Eda mRNA expression in goat skin peaks during the catagen phase of the hair cycle, suggesting its involvement in hair cycle regulation.
7 citations
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January 2020 in “Dermatology online journal” In this case report, adult-onset porokeratotic eccrine ostial and dermal duct nevus improved with topical tazarotene treatment, as evidenced by dermatoscopic images.
2 citations
,
December 2021 This study found that the observed isotropic ss-ECD spectrum of finasteride is influenced by the anisotropy of locally oriented crystals, offering new possibilities for analyzing solid-state chiral materials.
January 2024 in “Frontiers research topics” This research abstract outlines the innovative approach of the Frontiers journal series, which aims to transform academic publishing by providing open access, interdisciplinary journals that employ a rigorous peer-review process to serve both scholarly communities and the public.
35 citations
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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.
164 citations
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December 1984 in “Proceedings of the National Academy of Sciences” This study found that TCDD significantly reduced EGF receptor binding in various animal models, linked to toxic symptoms like weight loss and developmental delays, with receptor phosphorylation persisting several days.
January 2025 in “JCEM Case Reports” This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.
26 citations
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January 1992 in “Carcinogenesis” This study suggests that chronic treatment with TPA in mouse skin selectively expands a keratinocyte subpopulation hyperinducible for ODC, which may be a key target for neoplastic transformation.
January 2022 in “Chemistry: A European Journal” This study found that synchrotron radiation ECD imaging provides new insights into solid-state Finasteride by highlighting the significant role of anisotropy in local domains for chiroptical measurements.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” In this study, Dodatek A operationalizes the Functional Androgen Axis framework by defining three system-level indices and an efficiency metric to describe androgen function, incorporating key methodological improvements and acknowledging significant limitations for future empirical validation.
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.
June 2025 in “Preprints.org” This review examines the complex role of the Ectodysplasin-A pathway in skeletal morphogenesis, emphasizing its interaction with other key signaling pathways, and reports no new experimental findings.
11 citations
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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.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This research presents the Dodatek A model, elaborating on androgen function through new mathematical indices and methodological improvements, shifting focus from serum hormone concentrations to system interactions to better describe androgen activity comprehensively.