48 citations
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March 2010 in “PloS one” This study found that the co-ablation of C/EBPalpha and C/EBPbeta in adult mouse skin disrupted sebocyte differentiation and epidermal homeostasis, highlighting their critical roles in these processes.
11 citations
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July 2015 in “Gene” This study found that dihydrotestosterone (DHT) suppresses prostaglandin E2 and TGF-β induced IGF-I gene promoter activity in osteoblasts, suggesting complex interactions among bone growth regulators and potential complications from anabolic steroid use.
22 citations
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September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This case study reports that a 26-year-old woman with epidermolysis bullosa prurogompsa also presented with unique findings of co-existing muscular dystrophy and immune-based myasthenia gravis, with significant improvement following steroid treatment.
July 2025 in “Journal of Cutaneous Pathology” In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.