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Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.

In this study, researchers identified a new dominant mutation in Hairless mice, called Pied, resulting from a deletion in the Adam10 gene, which causes freckle-like skin pigmentation by inhibiting melanocyte expansion.

This study reports the first case of diverse medium-sized visceral arterial aneurysms in a patient with functionally impaired A20, potentially linked to HA20, and its atypical presentation in East Asia.

This research observed that the skeletal abnormalities in Noggin null mice varied based on genetic background, and identified haploinsufficiency leading to joint fusions, similar to human conditions associated with NOGGIN deficiency.

This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.