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This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.

This study found that distinct glycoconjugate expression patterns in human hair follicle cells suggest complex carbohydrate metabolism, revealing a unique sugar moiety in outer root sheath cells not present in other keratinocytes.

This in-silico study identified several compounds as potential Vitamin D Receptor agonists, with Dolichosterone showing the strongest binding energy.

In this study, the varied phenotype of trichothiodystrophy was highlighted, with findings of distinctive hair shaft abnormalities and a wide range of multisystem issues, including neurologic and urologic disorders.