The latest medical research on Dermatopathology

The research magnet gathers the latest research from around the web, based on your specialty area. Below you will find a sample of some of the most recent articles from reputable medical journals about dermatopathology gathered by our medical AI research bot.

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5,6-Dihydroxyindole eumelanin content in human skin with varying degrees of constitutive pigmentation.

Pigment Cell and Melanoma Research

Human skin contains two distinct components: brown to black, insoluble eumelanin and light colored, alkaline-soluble pheomelanin. Eumelanin consist...

Melanoma central nervous system metastases: An update to approaches, challenges, and opportunities.

Pigment Cell and Melanoma Research

Brain metastases are the most common brain malignancy. This review discusses the studies presented at the third annual meeting of the Melanoma Rese...

Clinical and pathological characteristics of familial melanoma with germline TERT promoter variants.

Pigment Cell and Melanoma Research

Around 10% of melanoma occur in patients with a suspected familial predisposition. TERT promoter mutations are the most common somatic hotspot muta...

Three-dimensional imaging for the analysis of human epidermal melanocytes.

Pigment Cell and Melanoma Research

Three-dimensional (3-D) analysis of human epidermal melanocytes is required for deeper understanding of melanocytic disorders. The purpose of this ...

Oncogenic properties via MAPK signaling of the SOX5-RAF1 fusion gene identified in a wild-type NRAS/BRAF giant congenital nevus.

Pigment Cell and Melanoma Research

We recently reported a RAF rearrangement without NRAS or BRAF mutations in lesions from Giant Congenital Melanocytic Nevi (CMN). The new gene fusio...

Identification and Functional Assays of Single Nucleotide Variants of Opsins Genes in Melanocytic Tumors.

Pigment Cell and Melanoma Research

Epidermal melanocytes sense solar light via the opsin-coupled signaling pathway which is involved in a range of biological functions, including regulating pigmentation, proliferation, apoptosis, and tumorigenesis. However, it remains unclear whether there are genetic variants within these opsins that affect opsin protein structure and function, and further melanocyte biological behaviors.

Here, we examined single nucleotide variants (SNVs) of five opsin (RGR, OPN1SW, OPN2, OPN4, and OPN5) genes in MM (malignant melanoma) (n=76) and MN (melanocytic nevi) (n=157), using next-generation sequencing. The effects of these pathogenic single nucleotide variants (SNVs) on opsin structure and function were further investigated using molecular dynamics (MD) simulations, dynamic cross correlation (DCC), and site-directed mutagenesis.

In total, 107 SNV variants were identified. Of these variants, 14 non-synonymous SNVs (nsSNVs) of opsin genes were detected, including three mutations in the RGR gene, three mutations in the OPN1SW gene, two mutations in the OPN2 gene and six in the OPN4 gene. The effect of these missense mutations on opsin function was then assessed using eight prediction tools to estimate the potential impact of an amino acid substitution. The impact of each nsSNV was investigated using MD simulations and DCC analysis. Furthermore, we performed in vitro fluorescence calcium imaging to assess the functional properties of nsSNV proteins using a site-directed mutagenesis method. Taken together, these results revealed that p.A103V (RGR), p.T167I (RGR), p.G141S (OPN1SW), p.R144C (OPN1SW), and p.S231F (OPN4) had more deleterious effects on protein structure and function among the 14 nsSNVs.

Opsin genes alterations showed the low frequency of missense mutations in melanocytic tumors, and although rare, some mutations in these opsin genes disrupt the canonical function of opsin. Our findings provide new insight into the role of opsin variants in the loss of function.

Reconstructed human pigmented skin/epidermis models achieve epidermal pigmentation through melanocore transfer.

Pigment Cell and Melanoma Research

The skin acts as a barrier to environmental insults and provides many vital functions. One of these is to shield DNA from harmful UV radiation, whi...

A Focused Review on the Pathophysiology of Post inflammatory Hyperpigmentation.

Pigment Cell and Melanoma Research

Post-inflammatory hyperpigmentation (PIH) is one of the most common disorders of acquired hyperpigmentation. It often develops following cutaneous ...

Interferon-gamma Induces Melanogenesis Via Post-Translational Regulation of Tyrosinase.

Pigment Cell and Melanoma Research

Melanogenesis (melanin pigment production) in melanocytes is canonically stimulated by the alpha-melanocyte stimulating hormone (αMSH), which activ...

Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell and Melanoma Research

Acral melanoma (AM) tumors arise on the palms, soles, fingers, toes and nailbeds. A comprehensive systematic meta-analysis of AM genomic aberration...

Altered expression of ferroptosis markers and iron metabolism reveals a potential role of ferroptosis in vitiligo.

Pigment Cell and Melanoma Research

Oxidative stress is one of the triggering factors for vitiligo, which leads to melanocyte destruction in vitiligo lesions. Ferroptosis, which is characterized by iron-dependent increase in oxidative stress and lipid peroxidation, has been widely explored in numerous diseases, whereas whether ferroptosis plays a role in melanocyte loss of vitiligo remains to be elucidated.

Quantitative real-time PCR and western blot analysis were used to determine the expression of ferroptosis markers in vitiligo patients. Immunonephelometry and electrochemiluminescence were performed to analyze iron status. ROS, Fe2+ and lipid ROS were assessed by flow cytometry. Expression of ferroptosis markers was significantly altered in the epidermis of vitiligo patients. Iron deficiency was revealed in the blood of patients. Erastin reduced cell viability and led to oxidative stress, iron overload as well as lipid peroxide accumulation in human epidermal melanocytes in vitro. Altered expression of ferroptosis markers and inhibition of melanin synthesis in melanocytes were induced by erastin, which was attenuated by NAC pre-treatment or post-treatment in vitro.

Vitiligo is an acquired pigmentary disorder on skin and/or mucosae, characterized by death of melanocytes. Although apoptosis has been most widely studied in vitiligo, its unique role in melanocyte death is being challenged since dead melanocytes in vitiligo patients varied in shape and biomarkers. Here we reported that levels of ferroptosis markers were significantly altered in the epidermis of vitiligo patients and that iron metabolism was significantly altered in the peripheral blood of vitiligo patients. Erastin could induce ferroptosis in human melanocytes in vitro, which could be protected by N-acetyl-L-cysteine treatment. In summary, targeting ferroptosis may be a potential strategy for treating active vitiligo.

New Insights into The Pathogenesis of Hermansky-Pudlak Syndrome.

Pigment Cell and Melanoma Research

Hermansky-Pudlak syndrome (HPS) is characterized by defects of multiple tissue-specific lysosome-related organelles (LROs), typically manifesting w...