1 citations
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August 2020 This study found that mutations affecting hair keratin expression on Chromosome 15 in mice may cause altered hair and skin features similar to other known mouse mutations.
July 2026 in “Physiologia Plantarum” In this study, researchers identified the crucial role of collet hairs in seedling survival by demonstrating that the collet hair-defective shv3 mutant lacked sufficient anchorage, compromising radicle penetration into the soil.
91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” In this study, a novel mutation in the glucocorticoid receptor gene was identified in a young woman, impairing glucocorticoid signaling and leading to generalized glucocorticoid resistance.
April 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that human skin melanocytes with low mutation burdens are smaller, less dendritic, and exhibit stem-like features, often residing in UV-protected hair follicles, suggesting their role in replenishing sun-damaged epidermis.
5 citations
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December 2017 in “The Journal of Dermatology” This report describes a unique case of Schöpf–Schulz–Passarge syndrome in a Taiwanese man linked to a previously unreported homozygous WNT 10A mutation, underscoring its role in ectodermal dysplasia.