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KAP8.1 protein is crucial for hair structure and interacts with keratin 85.

This study suggests that alkaline phosphatase-regulated expression of CCL5 contributes to the trichogenicity of human dermal papilla spheres.

This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.

This study investigated a patient with spinal and bulbar muscular atrophy who had 68 CAG repeats, revealing early onset and unique symptoms not previously documented in the condition.

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.

This study developed a genetic toolbox to engineer Cutibacterium acnes for dermal applications, successfully creating a strain that secretes antioxidants to reduce oxidative stress in a UV stress model.

This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.

This study developed rat monoclonal antibodies that specifically detect Pax1/PAX1 protein, which could improve diagnostic protocols for conditions involving deregulated Pax1/PAX1 expression.

This study demonstrated that a specific 9-kbp fragment of the bovine keratin 6 gene effectively directs tissue-specific and inducible expression in transgenic mice, suggesting potential applications for targeted gene therapy in hyperproliferative skin conditions.

This case study in a renal transplant patient observed that eruptive KA-type SCCs exhibited aggressive behavior and genetic expression changes following intralesional chemotherapy, indicating potential caution against routine use of such treatments in similar cases.

This study identified nine novel KRTAP5 family genes associated with human hair formation, demonstrating preferential expression in hair roots and suggesting their role in hair development.

This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.

This study found that CTCF is crucial for proper skin and hair follicle development in mice, affecting keratinocyte differentiation and gene expression in keratin loci.

This study found that a 671-base pair promoter sequence from the ultra-high-sulfur keratin gene is sufficient to direct tissue-specific and development-specific expression of a reporter gene during hair growth in transgenic mice.

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.

This study found that phenyl-imidazole sulfonamide derivatives, particularly ISCK03, inhibited c-kit signaling and promoted depigmentation in various experimental settings, suggesting potential use as skin-whitening agents.

This study found that FGF5-/- rabbits exhibited a significant long hair phenotype by prolonging the anagen phase, suggesting FGF5 acts as a negative regulator of hair growth.

In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.

mHa2 and mHa3 keratins have different structures and roles in mouse hair and tongue tissues.

This study reports new fluorogenic ceramidase substrates and highlights RBM14C24:1 as an efficient substrate for neutral ceramidase, while RBM15C18:1 is the best probe for measuring ACER1 and ACER2 activities, potentially aiding high-throughput screening for ceramidase inhibitors.

This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.

In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.

This study found that cupric chloride treatment may partially correct delayed maturation and abnormal arborization of Purkinje cells in the cerebellum of hemizygous brindled mice, a model for Kinky hair disease.

In this study, researchers found that the pCLCA2 protein is expressed in specific areas of pig skin, but its role in skin structure or function remains unclear.

This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.

This study demonstrated that switching aE-catenin to aT-catenin in murine skin substantially rescued hyperproliferative and pre-cancerous conditions, but led to partial baldness, indicating potential functional discrepancies.

This study identified a domain on human chromosome 21q22.1 containing various high glycine-tyrosine and high sulfur keratin-associated protein genes, revealing their diverse expression in hair-forming cells.

This study reports that the monoclonal antibody BKN-1 specifically stained basal cell epithelioma cells and certain normal skin structures, indicating a similarity in keratin expression between the tumor and follicular epithelium below the isthmus portion.

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.