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This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.

In this study, elevated mRNA levels for serine-rich ultra high sulfur proteins were observed during active hair growth phases in mice, particularly in the forming hair structures and upper skin layers.

This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.

This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.

This study suggests that nephronectin (NPNT) could serve as a novel prognostic marker for poor prognosis in a subgroup of breast cancer patients, associated with specific NPNT staining patterns.

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

The researchers reported that in nonmelanoma skin cancers, the expression of osteopontin splice variants is significantly higher compared to normal skin, with OPN-a elevated in basal cell carcinoma more than OPN-c.

This study found that nanobubble-encapsulated diclofenac with ultrasound-targeted microbubble destruction (DNBs-UTMD) can enhance the anti-tumor efficacy of Doxil® by regulating the tumor immune microenvironment, improving drug uptake, and increasing T cell responses while reducing immune-suppressive cells in the process.

This study introduced a customizable ELISA for detecting antibodies against botulinum neurotoxin that matches or surpasses other tests in sensitivity and allows for more efficient and animal-friendly testing when combined with the hemidiaphragm assay.

This study reports the synthesis and structural characterization of a novel dinuclear platinum(III) complex with potential antitumor and catalytic activity.

This study observed that ultrastructural changes like lamellar bodies and electron-dense granules in the stratum corneum may aid in the early diagnosis of Netherton syndrome.

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.

This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.

This study found that in AGA, the risk allele at locus 2q35 alters WNT10A expression through EBF1, suggesting a potential androgen-dependent regulatory mechanism.

This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.

This study identified a novel human type I hair keratin, hHa3-II, as an isoform of a previously described hHa3 keratin, with distinct sequence differences indicating separate gene encoding.

This report details a case of dystrophic epidermolysis bullosa in a 37-year-old male with a recessive mutation in the CLO7A1 gene, affecting type VII collagen.

This study found that MAP-2 is intensely expressed in the companion layer of the hair follicle, suggesting its potential importance to follicle integrity and possible involvement in some types of alopecia.

In laboratory studies on mice, Abstract UT-018, a stem cell chemoattractant formulation, was reported to significantly enhance wound healing and promote hair regeneration through mechanisms involving improved tissue formation, collagen organization, and follicular development.

This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.

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 article reviews the case of a patient diagnosed with basal cell nevus syndrome and reports no new research findings.

In this study, researchers explored ubiquitination patterns in healthy human skin and CYLD cutaneous syndrome tumors, identifying extensive ubiquitin sites and differential protein ubiquitination linked to tumor pathology, highlighting the role of ubiquitination in tissue architecture and disease mechanisms.

CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.

This study found that eribulin-based chemotherapy resulted in longer median progression-free and overall survival, with fewer side effects, for advanced triple-negative breast cancer patients compared to other chemotherapy options.

CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.