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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 study identified molecular differences between dysplastic nevi and common melanocytic nevi, including altered keratinocyte differentiation, increased hair follicle-related molecule expression, and distinct immune microenvironment characteristics in dysplastic nevi.

This article reviews keratosis follicularis squamosa, a keratinizing disorder predominantly found in the Japanese population, but reports no new clinical results.

This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.

This study found that Basonuclin 1 knockdown in human primary keratinocytes significantly reduces cell proliferation and affects migration, indicating its role in coordinating the re-epithelization phase of wound healing.

This study found that overexpression and knockdown of DKK4 influence genes involved in hair follicle growth and development in Angora rabbits and identified specific SNPs in DKK4 associated with wool quality, notably showing that the TT/GG haplotype combination relates to higher fibre diameters.

This study found that in circulating tumor cells from non-invasive liquid biopsies, the GG genotype of the CYP3A5 A6986G affects longer disease-free survival in DLBCL patients, highlighting the significance of circulating biomarkers for prognostic evaluation.

In this study, researchers found that the loss of SETDB1 in epidermal keratinocytes led to altered chromatin states, increased ERV expression, and activation of immune responses, while inhibiting these effects with certain antiviral drugs reduced skin inflammation and hair loss in a mouse model.

This study found that using ectopic expression of CD24 is a promising approach for selecting genetically modified human epidermal stem cells for safe cutaneous gene therapy in cancer-prone conditions.

This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.

This research highlights the potential of non-coding RNAs as biomarkers and therapeutic targets in dermatology, while experimental studies on a unique GVM case suggest CCM2L may modulate disease severity, advancing understanding of genetic mechanisms in rare skin disorders.

This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.

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 study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.

In this study, researchers found that β-catenin directly promotes TERT expression in stem and cancer cells by interacting with the Tert promoter, illustrating a mechanistic link between tumorigenesis and pluripotency.

This study found that despite strong homology between two K16 genes, only one encoded a functional protein that assembled into keratin filaments in epithelial cells, possibly due to promoter strength differences.

CD200 is not a reliable marker for identifying stem cells in all skin types.

CD10 helps distinguish between basal cell carcinoma and benign hair follicle tumors.

ATP-sensitive potassium channels are important for hair growth.

This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.

In this study, NKG2D polymorphism was not linked to increased susceptibility to systemic lupus erythematosus among Egyptian patients living in the Suez Canal area.

This study identified a new type II cytokeratin, named K6hf, exclusively expressed in the companion layer of the human hair follicle, distinguishing it from other keratins and suggesting a unique biochemical role.

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 review examines genetic variation in the ovine KRTAP1.1 gene and its potential impact on wool quality, reporting no new findings but suggesting opportunities for developing gene markers for wool and pelt traits.

In this study, researchers developed a novel genetic tool using Wif1-CreER knock-in mice for precise labeling and manipulation of dermal papilla cells, which could enhance understanding of hair biology and aid in developing targeted therapies for hair-related disorders.

This study identified that the ND1 gene sequence of the Asian black bear's Sichuan subspecies shares high similarity with those of other bear species, raccoons, and Ailurus fulgens.

Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.