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This study suggests that human hair follicles may serve as a model for molecular analysis of ABCA4 gene splice-site variants, facilitating research into the pathogenicity of ABCA4 retinopathies.

This study identified a small molecule that activates GLI1, suppressing neuroblastoma cell growth, which may aid in developing new treatments for high-risk neuroblastoma cases.

This study investigated the role of the ABCA4 gene in human keratinocytes and hair follicle stem cells and found that silencing the ABCA4 gene increases the harmful effects of all-trans-retinal on hair follicle stem cells.

This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.

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 review outlines the genetic basis of GABEB, highlighting reduced type XVII collagen as a distinguishing marker from Herlitz JEB, and discusses potential therapeutic avenues without presenting new results.

This study found that monoclonal antibodies identified distinct staining patterns in benign and malignant skin appendage tumors, highlighting their potential as markers for analyzing skin tumors.

This study found that CTHRC1 is crucial for sweat gland function and vascular network integrity in mice, and its administration improved sweat gland performance by reconstructing nearby blood vessels.

In this study, animal model observations suggested that GLI1 expression may reduce cSCC initiation but is not involved in the tumor's aggressiveness.

In this case report, a three-generation family with Gorlin-Goltz syndrome showed a heterozygous PTCH1 splice-donor variant associated with the disease, and two affected relatives benefited from individualized, side-effect-guided dosing of the drug sonidegib, experiencing regression of basal cell carcinoma lesions.

This study found that BRG1 is crucial for keratinocyte migration during skin wound healing, as its suppression impairs wound closure by inhibiting migration without affecting cell proliferation or apoptosis.

This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.

This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.

This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.

In this study, the authors used AI-driven methods to identify and prioritize promising therapeutic targets that may address both aging and Glioblastoma Multiforme, proposing CNGA3, GLUD1, and SIRT1 as novel candidates.

In this study, researchers identified a causal link between Epstein-Barr virus infection and clear cell renal cell carcinoma, highlighting GBP1 as a key target and suggesting finasteride as a potential inhibitor, offering a new direction for treatment strategies.

This study found that NDRG1 expression increases during the proliferation of infantile hemangioma and may positively regulate its growth, while FOXO1 downregulation plays a role in its pathogenesis.

This study found that a single ablative fractional laser treatment significantly reduced hedgehog pathway gene expression in microscopic murine basal cell carcinomas, nearly matching the effects of repeated topical vismodegib applications.

This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.

This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.

This report describes a three-generation family with Cantú syndrome linked to a novel ABCC9 gene variant, featuring acromegaloid appearance and hypertrichosis without growth hormone abnormalities, and suggests a potential association with pituitary adenomas.

AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.

The study suggests that integrin β1 is crucial for maintaining liver microstructure and its absence may promote fibrosis by disrupting hepatocyte-extracellular matrix interactions and increasing TGF-β secretion.

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.

GNPTAB gene is crucial for normal hair color in humans and mice.

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 found that circAGK was highly expressed in AGA patients and promoted dermal papilla cell apoptosis, suggesting it as a potential target for treating androgen alopecia.

This report presents two cases of Berardinelli–Seip syndrome, emphasizing the role of genetic analysis and comprehensive care in managing the variability and complications of this rare condition.

This study found that glioblastoma cells express key enzymes involved in androgen synthesis, suggesting these enzymes might be potential targets for new therapeutic strategies.

This study found that elevated CgA levels in PCOS are associated with obesity, insulin resistance, and low-grade inflammation, suggesting CgA may be a novel biomarker for metabolic risk stratification in PCOS.