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This study found that human hair keratin genes contain a few simple sequence repeats, with one repeat in the exon of KRT31 and additional repeats in introns, varying in length compared to their orthologues.

This study found that activating CXCR2 on ras-transformed keratinocytes promotes migration and tumor development in a mouse skin model.

This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.

In this study, researchers created a mouse model using CRISPR/Cas9 technology to investigate hypotrichosis simplex and woolly hair, finding that Krt71-knockout mice exhibited curly hair and developed complete hair shedding without immune deficiencies, mimicking conditions seen in humans and potentially aiding future hair disorder research.

This study identified a new cytokeratin, mK6irs, specifically expressed in the inner root sheath of mouse hair follicles, distinguishing it as a member of the type II cytokeratin family.

KLHL24-mutant stem cells help understand skin and heart disease.

This study found that genetic variants in the goat KRTAP22-2 gene are associated with the mean fiber diameter of cashmere in Longdong Cashmere goats, suggesting these variants could serve as molecular markers for improving cashmere traits.

This genetic study identified four new keratin-associated protein genes in sheep, revealing significant sequence variation and suggesting complex evolutionary dynamics, with unique variants in some sheep breeds linking them to Romanov sheep ancestry.

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 study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.

This study reports the cloning and expression details of two new human type II keratins, K6irs3 and K6irs4, in the hair follicle's inner root sheath, suggesting a distinct functional role related to hair structure.

In this study, the identification of a novel KAP gene in sheep, named KRTAP36-1, was associated with increased prickle factor in wool, suggesting its potential as a genetic marker for breeding purposes.

This study found that KROX20 is crucial for hair follicle development and epidermal homeostasis, as its deletion in skin epithelial cells led to hair loss and increased epidermal thickness.

In this study, researchers found that the keratin-associated protein 36-1 gene (KRTAP36-1) allele C is linked to variations in mean fibre curvature of fine wool in Chinese Tan lambs, suggesting its role in their distinctive curly coat.

This study found that conditional deletion of CD271 in mouse epidermis led to significant disorganization and increased thickness, suggesting CD271's crucial role in regulating skin differentiation and structure.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This study identified KRT82 as a significant Alopecia Areata risk gene, finding that rare damaging variants are linked to elevated immune cell infiltration around hair follicles in affected individuals.

This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.

This study concluded that the frizzy mutation in mice is linked to a T to A transversion in Prss8 and is orthologous to the 'hairless' mutation in rats.

LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.

This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.

This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.

This study identified three genes in the ovine KAP13 family on chromosome 1 and found that a specific allele of KRTAP13-2 is associated with improved wool fibre diameter uniformity in Chinese Tan sheep, suggesting its potential use as a marker for enhancing wool traits.

A specific gene mutation causes severe skin and nail issues and hair loss.

This study found that K79+ keratinocytes migrate outward to help form the hair follicle lumen both during development and adult regeneration, revealing a novel mechanism of hair follicle formation in mice.

In this study, researchers identified six unique genetic variants of a sheep gene, KRTAP19-3, with specific variants linked to changes in wool fibre traits, such as increased fibre diameter variability, suggesting these genetic differences affect wool characteristics in Chinese Tan sheep.

ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.