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EF and PXE not closely related.

Keratin proteins in epithelial cells are dynamic and crucial for cell processes and disease understanding.

This chapter reviews keratins in skin epithelia, including their roles in cellular function and disease, and reports no new experimental results.

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

This study developed a novel method to analyze the effects of COL7A1 mutations using mRNA from peripheral blood mononuclear cells, aiding genetic diagnosis and potential therapies for dystrophic epidermolysis bullosa.

Aging skin is affected by inflammation, reduced stem cell function, and slower wound healing.

The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.

This study found that hypospadias in male children is significantly associated with genetic polymorphisms in the Steroid 5 alpha reductase type 2 gene, higher parental age, consanguinity, rural residence, and preterm labor, with maternal age and rural residence being the strongest independent predictors.

This review discusses molecular testing for endocrine diseases, highlighting its diagnostic benefits and potential for prevention, particularly in conditions like multiple endocrine neoplasia type 2 and adrenogenital syndrome, but reports no new clinical results.

This article illustrates various hair shaft defects and suggests that dermatologists can diagnose most of them using light microscopy and polarization without needing advanced imaging techniques.

This study found that the absence of sebaceous glands may be an early factor in the development of keratosis pilaris, leading to hair shaft and skin barrier abnormalities, independent of filaggrin mutations.

This case report presents a 14-year-old girl with type A insulin resistance, illustrating diagnostic processes to differentiate it from type 2 diabetes in the context of pediatric obesity and hyperglycemia.

This study reports that a widespread founder SERPINB7 mutation underlies Nagashima-type palmoplantar keratosis, which is a common form of palmoplantar keratosis in Asian populations.

This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.

This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.

This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.

This study suggests that the harlequin ichthyosis mouse model closely resembles human type 2 harlequin ichthyosis, indicating its potential as a useful model for studying the human condition.

This case report describes two patients with a likely new type of pachyonychia, characterized by nail thickening and severe generalized hypotrichosis, possibly linked to a mutation in a hard keratin.

In this study involving genetically modified rats, researchers observed that specific mutations in the vitamin D receptor affect calcium levels and bone formation, emphasizing the receptor's role in maintaining healthy bone density and its importance in regulating hair cycle and skin health.

This study presents iSiMPRe, a method identifying protein regions enriched in mutations, revealing potential cancer-related genes and enhancing understanding of mutation effects across a wide range of cancer types.

In this case report, a four-year-old girl was diagnosed with vitamin D-dependent rickets type II, manifesting as diffuse alopecia, frontal bossing, hypoplastic teeth, and skin-colored papules, due to a genetic mutation causing resistance to 1.25-dihydroxy vitamin D.

This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.

In this study, Trf1 genetic deletion in mice, including those with cancer-prone mutations, was shown to not affect overall viability and cause only mild effects, while being necessary for tumor formation, suggesting a potential therapeutic window for Trf1 as an anti-cancer target.

This study developed a new method to analyze Cantú syndrome mutations in KATP channels, finding that while Kir6.1 mutations increase sensitivity to potassium channel openers, SUR2B mutations show reduced sensitivity, but both result in marked hyperpolarization compared to wild-type channels under basal conditions.

This study found that zebrafish with a mutation in the GDP-fucose biosynthesis gene exhibited enhanced and faster regeneration of mechanosensory hair cells, implicating the importance of this gene and Notch signalling regulation in hair cell regeneration mechanisms.

A mutation in the KRT74 gene causes woolly hair by affecting hair texture.

This article reviews the types and characteristics of adrenal cortex tumors, including their hormone secretion and detection as incidental findings, but presents no new research results.

This study found that sebaceous gland-derived cutaneous adnexal carcinomas exhibited the highest frequency of genomic alterations compared to other tumor types.

This review discusses the identification and roles of different epidermal stem cell types in skin homeostasis and repair, and reports no new experimental findings.

This review discusses the role of genetic mutations and environmental endocrine disruptors in insufficient androgen action, which can result in conditions like hypospadias, cryptorchidism, and micropenis, during male fetal development.