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.
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.
21 citations
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November 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that telogen, a resting phase of the hair follicle cycle, is characterized by dynamic gene expression, including enhanced cholesterol metabolism and immune signaling, suggesting it is an active regulatory phase despite its quiescent appearance.
17 citations
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March 2022 in “BMC Genomics” This study found that differences in cashmere fiber diameter in Tibetan cashmere goats are associated with variations in metabolic, hypoxic, and stress response-related proteins, offering insights for breeding strategies.
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.