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This study found that small molecule AP-1 inhibitors may selectively target SMO inhibitor-resistant basal cell carcinoma cells characterized by specific markers, potentially enhancing combinatorial cancer therapies.

This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.

This study found that autophagy is impaired in Birt-Hogg-Dubé syndrome-associated renal tumors and identified that the FLCN protein interacts with key autophagy components regulated by ULK1.

A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.

This study identified a compound heterozygous mutation in a hairless rhesus macaque, which was associated with skin abnormalities similar to those in hairless mice and humans with APL.

This study concluded that heterozygous NFKB2 mutations lead to a distinct and severe form of primary immunodeficiency with early onset, primarily T cell-mediated autoimmunity, and impaired B-cell differentiation.

This study suggests that specific mutations in the MFN2 gene, including the p.Arg707Trp allele, can result in tissue-selective mitochondrial dysfunction leading to excessive upper body fat growth and low leptin levels.

In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.

CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.

This study found that transgenic mice expressing a mutant E1a oncoprotein in their skin had disturbed hair follicle maturation but did not show increased tumor development or proliferation.

This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.

This report highlights a case of possible association between myotonic dystrophy type 1 and basal cell carcinoma, urging clinicians to consider this link despite negative genetic testing for known hereditary BCC syndromes.

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.

Defective protein folding due to a mutation is key in ANE syndrome.

This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.

This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.

This study found that overexpressing CRABP1 in dermal papilla cells promotes their proliferation and influences key genes in the Wnt/β-catenin signaling pathway, which may offer insights into mechanisms controlling hair follicle development.

This study found that mutations in the PADI3 gene, which is important for hair shaft formation, may contribute to central centrifugal cicatricial alopecia among patients.

In this study, researchers found that most patients with frontal fibrosing alopecia lacked the protective rs1800440 polymorphism in the CYP1B1 gene, suggesting its potential role in the development of this condition, while a significant number carried the rs9258883 polymorphism in HLA-B*07:02.

This study found that the KrasG12D mutation alters ERK signal dynamics in hair follicle stem cells, leading to tissue deformation, and suggests a collective effect of mutant cells is necessary for disruption.

In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.

In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.

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 found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.