5 citations
,
September 2018 in “Journal of Investigative Dermatology” Keratinocyte cytokines and genetic variations influence the development of moles and skin pigmentation.
19 citations
,
May 2016 in “Biology Direct” 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.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
20 citations
,
November 2019 in “Current Opinion in Systems Biology” This review discusses how recent studies use models and experiments to understand immune system signaling, but it reports no new clinical findings; the authors suggest strategies for improving these models.
July 2024 in “Journal of Investigative Dermatology” Targeting TCR-Vβ2 in cutaneous T cell lymphoma shows promise for safer, more specific treatment.
23 citations
,
November 2020 in “Central-European Journal of Immunology/Central European Journal of Immunology” This review explores the autoimmune hypothesis of alopecia areata and the possible genetic and melanogenesis-associated autoantigens, but reports no new clinical findings.
November 2025 in “Journal of Investigative Dermatology” Light skin shows more inflammation from sun exposure than dark skin.
4 citations
,
November 2016 in “Pediatric Clinics of North America” This article discusses the diagnostic and therapeutic approach for immune-mediated central nervous system diseases but reports no new clinical findings.
June 2025 in “Molecular Genetics & Genomic Medicine” This study found that among children with 21-hydroxylase deficiency, there is a strong correlation between severe genetic variants and clinical outcomes, but the correlation weakens with milder variants, indicating the limitations of relying solely on NGS for diagnosis.
31 citations
,
May 2021 in “Journal of endocrinological investigation” This study in Italy found that APS-1, a rare disorder, is associated with various AIRE gene mutations and most individuals have autoantibodies such as IFNωAbs, which are markers of the condition.
September 1997 in “Journal of The European Academy of Dermatology and Venereology” Skin lymphoproliferative disorders are hard to diagnose and often linked to systemic diseases, but most have a good prognosis with accurate diagnosis.
26 citations
,
January 1992 in “Carcinogenesis” This study suggests that chronic treatment with TPA in mouse skin selectively expands a keratinocyte subpopulation hyperinducible for ODC, which may be a key target for neoplastic transformation.
January 2011 in “Journal of Human Genetics” This study found a severe MBTPS2 gene mutation in a Japanese IFAP syndrome patient, suggesting other factors may influence the syndrome's clinical features compared to previously studied patients.
January 2026 in “Immune Network” This review discusses the heterogeneity of Tregs in normal and tumor environments, emphasizing the complexity of targeting tumor-resident Tregs while maintaining systemic immune tolerance, but reports no new findings.
12 citations
,
January 2018 in “Journal of Clinical Laboratory Analysis” This study found that IL-18 rs187238 and rs1946518 single nucleotide polymorphisms were associated with increased susceptibility to alopecia areata in a Turkish population.
30 citations
,
December 1996 in “Journal of Investigative Dermatology”
February 2026 in “ImmunoTargets and Therapy” This study found that tumor immunotherapy, while effective against solid tumors, can disrupt the immune balance in hair follicles, causing follicular toxicity and alopecia, highlighting the need for targeted interventions to manage these adverse effects.
20 citations
,
November 2005 in “Journal of Investigative Dermatology Symposium Proceedings” This study found that IFN-γ plays a critical role in T cell activation and the pathogenesis of alopecia areata in C3H/HeJ mice.
5 citations
,
August 2021 in “Experimental dermatology” This study suggests that Merkel cell polyomavirus T antigen-positive cells resembling Merkel cell carcinoma may originate from epithelial cells in human hair follicles, potentially informing future transgenic mouse models for this cancer.
April 2023 in “Journal of Investigative Dermatology” This study found that single-nucleus RNA sequencing identified more relevant keratinocyte clusters and specific markers than single-cell RNA sequencing, offering a new perspective on skin cell differentiation and function.
December 2025 in “Egyptian Journal of Basic and Applied Sciences” This study observed that FOXA1 and CCL2 gene expression levels were significantly elevated in women with different PCOS phenotypes compared to healthy controls, indicating phenotype-specific molecular variations which could inform personalized treatment strategies for infertility in PCOS.
2 citations
,
May 2024 in “International Journal of Molecular Sciences” This study found that in a mouse model of psoriasis, depleting CD169+ macrophages led to milder symptoms and decreased inflammation, suggesting these macrophages play a crucial role in psoriasis development.
This study in mice found that a monoclonal antibody targeting EGFR resulted in skin inflammation mediated by TNFα, suggesting potential pathways for addressing EGFR antibody-induced skin rash in cancer patients.
32 citations
,
May 2018 in “Journal of the American Academy of Dermatology” This review describes how cutaneous toxicity from kinase inhibitors, immune checkpoint inhibitors, and chemotherapeutics could potentially serve as a biomarker for anticancer treatment efficacy, but highlights the need for more extensive research to confirm this association.
January 2015 in “ScholarlyCommons (University of Pennsylvania)” This study discovered that DNA damage independently induces IL-19 and IL-24 cytokines, which regulate senescence-associated secretory phenotype factors, suggesting potential pathways for treating cancer and age-related diseases.
12 citations
,
September 2022 in “Frontiers in Genetics” This study identified seven genes that may serve as biomarkers for diagnosing skin cutaneous melanoma by analyzing the relationship between UV exposure, ferroptosis, and the cancer's pathology.
September 2024 in “Pigment International” Results are not reported in this abstract; it discusses recent advancements in understanding vitiligo's pathogenesis, treatment, and comorbidities, emphasizing emerging areas like gut microbiome involvement and highlighting the disease's reclassification as a systemic condition with evolving therapies.
1 citations
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March 2004 in “Journal of the American Academy of Dermatology” This study reports a strong association between the MICA locus, specifically the MICA∗3-DR∗6-DQ6 haplotype, and Alopecia Areata in families.
This study found that GNAQQ209L expression in mouse melanocytes led to reduced survival in the interfollicular epidermis due to paracrine signaling, while GNAQQ209L boosted survival in a different microenvironment.