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This case report describes how a long-term combination of oral fatty acids and topical therapy appeared beneficial for managing autosomal recessive congenital ichthyosis in a goldendoodle with a PNPLA1 mutation.

This article discusses the role of filaggrin gene mutations in understanding atopic dermatitis and their link to allergic sensitization but does not report new clinical results.

In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.

This study identified WNT10A as crucial for adult epithelial cell proliferation and differentiation, suggesting β-catenin pathway activation may help address regenerative defects in WNT10A mutation patients.

This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.

This study observed that patients with CYLD mutations frequently experienced severe, painful tumors beyond the head and neck, impacting their quality of life, with hormonal factors possibly contributing to tumor development.

This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.

This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.

This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.

This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.

This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.

This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this 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 identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.

This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.

This study suggests that phenotypic plasticity, including processes like dedifferentiation and transdifferentiation, plays a crucial role in cancer initiation, progression, and therapy resistance, broadening our understanding of cancer dynamics and potential treatment strategies.

This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.

This research found that Foxc1 transcription factor and COL17A1 are critical in regulating quiescence and hair thinning in hair follicle stem cells, with aging-related DNA damage leading to hair loss.

This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.

This study found that over- and ectopic-expression of FoxN1 in early life negatively affected the development of thymic epithelial cells, T and B cells, and skin epithelial cells.

This study found that METTL1 is upregulated in papillary thyroid cancer tissues and promotes cancer cell proliferation and metastasis through its tRNA methyltransferase activity.

In this study, researchers overexpressed Lrig3 in mouse skin and observed hair loss linked to changes in skin protein profiles and signaling pathways, suggesting a potential role for Lrig3 in maintaining skin homeostasis.

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 highlighted Keratin 17's critical role in cancer therapy resistance across several malignancies, involving various signaling pathways, and identified it as a significant biomarker and potential therapeutic target, particularly in reversing resistance.

This study found that NKIRAS2 expression affects skin tumor suppression and HRAS-driven transformation in mice, indicating its role in carcinogenesis depends on expression level and cellular context.

In this study, overexpression of miR-29 in mice led to aging-related phenotypes and early lethality, demonstrating its significant role in driving aging processes.

This study describes the first case of female pseudohermaphroditism due to a novel homozygous glucocorticoid receptor gene mutation, indicating possible pre- and postnatal virilization in affected females.

This research reports that the polyG fragment within the Hoxc13 protein alters its gene regulatory functions, which could have influenced mammalian hair evolution by affecting pathways related to hair follicle development.

This study demonstrated that disrupting EGFR signaling in mice leads to immune sensitivity compromising the hair follicle's protective environment, but JAK1/2 inhibition can restore this immune privilege and stimulate hair growth, suggesting a potential therapy for scarring hair loss diseases like cicatricial alopecia.

This study suggests that activating retinoic acid signalling can inhibit Wnt signalling and induce regression in certain skin tumors, providing potential therapeutic strategies for tumor regression.