1 citations
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April 2023 in “Frontiers in Genetics” This report on individuals with AEBP1-related classical-like EDS confirmed previous findings and identified hair loss as a potential characteristic feature of this rare condition for the first time. Additionally, cardiovascular complications observed in some individuals suggest that cardiovascular monitoring may be necessary.
30 citations
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June 2021 in “British Journal of Dermatology” This review discusses the association between WNT10A gene variants and various ectodermal disorders, highlighting their clinical relevance in dermatology and dentistry, but reports no new findings.
20 citations
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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.
153 citations
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March 2017 in “Endocrine” This review examines recent advances in understanding the pathophysiology and molecular mechanisms of androgenetic alopecia, highlighting two major genetic risk loci, but does not report new clinical findings.
95 citations
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January 2012 in “British Journal of Dermatology” This study found that androgens inhibit hair follicle stem cell differentiation by disrupting the Wnt signalling pathway in dermal papilla cells, but Wnt activation can restore differentiation.