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This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.

This study found that the transcription factor CAP1 negatively regulates KRT83 expression in Tan sheep, possibly influencing their curly hair phenotype.

In this study, KRTAP28-1 variants were associated with wool fibre diameter in sheep, suggesting potential as a gene marker for reducing fibre diameter.

This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.

KRTAP10 proteins help form the hair shaft's tough outer layer by interacting with specific hair keratins.

A specific gene mutation causes woolly hair and hair loss.

This study discovered that calcium dependent protein kinase 1 (CPK1) directly activates cyclic nucleotide-gated channels 5, 6, and 9, promoting root hair growth in Arabidopsis by regulating Ca²⁺ signaling.

In this study, K19-lacZ transgenic mice exhibited epithelial-specific reporter gene expression in tissues such as the pancreas and stomach, suggesting the K19 promoter is a valuable tool for studying epithelial cell biology.

In this study, researchers found that the cornification process in the nuptial pads of Xenopus frogs involves the expression of the type II hair keratin homolog, krt59, and is regulated by the transcription factor hoxc13, showing similarities to mammalian hair evolution.

This study found that IL-9 influences the behavior of human primary keratinocytes by promoting motility while reducing invasion potential through a novel mechanism independent of matrix-metalloproteinases.

In this study, nucleotide sequence variation in the KRTAP13-3 gene was associated with changes in heterotypic hair fibre diameter variation in Chinese Tan sheep.

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.

This study found that NKIRAS2 expression affects skin tumor suppression and HRAS-driven transformation in mice, indicating its role in carcinogenesis depends on expression level and cellular context.

In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.

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 review discusses cornea-specific keratin expression patterns in human and mouse development and reports no new experimental results; it highlights the need for investigating keratin mutations' role in pathology.

This study found that the promoter region of the sheep KRTAP11-1 gene drives specific transcriptional activity in wool follicles, suggesting it may regulate hair keratinocyte specificity.

A mutation in the KRT25 gene causes woolly hair and hair loss.

This research identified K31 as a new marker for distinguishing clear secretory cells in human eccrine sweat glands, aiding in differentiating between distinct cell types within these glands.

This article reviews the role of Kremen proteins as regulators in the Wnt/β-catenin signaling pathway, highlighting their significance in development and cancer, but reports no new clinical results.

In this study, a somatic KRAS mutation was identified in a Korean infant with nevus sebaceus and associated extracutaneous manifestations, suggesting a diagnosis of nevus sebaceus syndrome.

This review reports that KRT80 is overexpressed in various cancers, enhancing cancer cell proliferation, invasiveness, and migration, suggesting it as a potential therapeutic target, though more clinical studies are needed to fully understand its role in cancer prognosis.

This study reports that hypotrichosis congenita in Hereford cattle is associated with a KRT71 mutation, leading to color dilution follicular dysplasia.

This review examines compounds that activate IK1 channels, highlighting their potential for developing Kir channel agonists and addressing safety concerns, but does not report new experimental findings.

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 cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.

In this study, researchers identified a putative ovine KAP24-1 gene in sheep, revealing four unique DNA sequences with some similarity to KRTAP24-1 sequences from other species.

This study found that keratin 19, unlike keratin 14, forms less stable filaments with keratin 5, suggesting distinct assembly properties and potential unique roles in skin basal cells.