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This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.

In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.

Krt6a-Cre transgenic mice help study gene effects on hair follicle development and tumor suppression.

This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.

In this study, researchers identified KRT6A as a potentially important gene in mesenchymal stem cell-derived treatments for alopecia areata, revealing its role as a diagnostic marker, predictor of disease severity, and a protective factor, with overexpression alleviating hair loss in experimental models.