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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.

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.

This study identified novel mutations associated with ectodermal dysplasias in Pakistani families, including a missense mutation in the KRTHB5 gene linked to pure hair-nail ectodermal dysplasias and mutations in the EDAR gene related to hypohidrotic ectodermal dysplasia.

This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.

This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.

This review summarizes the cell type distribution and functional significance of human keratins, emphasizing their roles in tumor diagnosis and potential clinical applications, and reports no new clinical findings.

This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.

This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.

This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.

In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.

This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.

This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.

In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.

The researchers found that HOXC13 regulates different keratin proteins in a mixed manner, with certain SNPs impeding this regulation, while also demonstrating negative-feedback by HOXC13 and positive regulation by LEF1 and melatonin on the HOXC13 promoter.

This study suggests that specific combinations of human type I and II hair keratins, particularly K35-K85 and K36-K81, have distinct in vitro assembly properties that are significant for macrofibril formation.

This review highlights recent genetic research advancements in understanding hereditary hair diseases but reports no new study results, emphasizing the identification of genes related to both monogenic and polygenic hair disorders.

This review discusses the complexity and genetic organization of human keratin gene clusters and addresses the ongoing need for an updated unified naming system; it reports no new clinical results.

The document explains the genetic causes and characteristics of inherited hair disorders.

Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

This review discusses recent advancements in understanding neuroendocrine regulation of keratin biology and highlights the potential of neurohormones to treat skin disorders, but it reports no new clinical results.

This study found that thyrotropin-releasing hormone (TRH) acts as a potent stimulator of hair growth in human scalp hair follicles, promoting elongation and prolonging the anagen phase.

This study identifies six novel keratin genes from the chromosome 17q21.2 region, suggesting their association with hair follicles, while all 27 keratin genes in the domain have been characterized transcriptionally.

This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.

This case report highlights that a patient with resistance to thyroid hormone was misdiagnosed as having Graves’ disease, leading to unnecessary radioactive iodine treatment.

This study found that breast carcinomas ectopically express a truncated form of hHb1 mRNA, which is associated with epithelial cell transformation.

This case report describes a 14-year-old female patient with monilethrix who developed female androgenetic alopecia at age 23, and found that oral minoxidil treatment improved her androgenetic alopecia while leaving the underlying structural hair anomalies of monilethrix unchanged.

This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.

This study found that the truncated hHb1-DeltaN transcript in breast cancer cells is produced by a cryptic intron promoter and responds to DNA demethylation, potentially altering cancer cell adhesion.