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The researchers reported that miR-21 expression increases with age in both human and mouse skin and may contribute to skin aging by targeting the chromatin remodeler SATB1 in keratinocytes.

This study reported a rare case where a pheochromocytoma produced ACTH, leading to cyclic Cushing syndrome, and underscores the importance of considering this possibility in cases of ACTH-dependent hypercortisolism with an adrenal mass.

This case report details a child with a specific TNFAIP3 mutation manifesting as a severe SLE/SS phenotype, expanding the known phenotype for this genetic variant.

This study found that the p63 transcription factor plays a role in epidermal morphogenesis by regulating Satb1 expression, impacting chromatin architecture and gene expression in epidermal progenitor cells.

This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.