November 1997 in “Open Archive (Karolinska Institutet)” This research observed that mutations in the PTCH gene are common in both sporadic and hereditary basal cell cancers, suggesting a critical role of the PTCH signaling pathway in skin tumor development.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
50 citations
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January 2016 in “The Journal of Clinical Endocrinology and Metabolism” This study found that miRNA expression profiles in follicular fluid are altered in women with PCOS, with certain miRNAs potentially useful for distinguishing patient subtypes and contributing to understanding PCOS heterogeneity.
100 citations
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March 2006 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that cystatin M/E strongly inhibits human cathepsin V and cathepsin L via distinct non-overlapping sites, suggesting an important role in human epidermal differentiation and hair follicle morphogenesis.
July 2021 in “Advances in laboratory medicine” This article reviews differential diagnosis approaches for 46,XY DSD, proposing a diagnostic algorithm focused on biochemical and genetic data, without presenting new clinical results.
