May 2015 in “Journal of Investigative Dermatology” Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
October 2025 in “Frontiers in Toxicology” This study found that a human relevant potency threshold for estrogen receptor alpha agonism may serve as a health-protective screening tool, and highlights inference performance as essential for scientific confidence frameworks.
1 citations
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January 2019 in “Digital Commons @ Olivet (Olivet Nazarene University)” This study found that alpha mangostin protected wild-type MCF10A breast cancer cells, but not p53 knockout cells, from damage by the chemotherapy agent paclitaxel.
This review discusses various environmental pollutants and their potential role in promoting mitochondrial dysfunction, which may contribute to aging-related diseases, cancer, and other adverse health outcomes, but reports no new experimental results.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This chapter reviews disorders caused by mutations in epithelial keratins, highlighting a range of skin-related manifestations and the evolving role of molecular genetics in diagnosis, but reports no new clinical findings.
91 citations
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July 2004 in “Journal of Biological Chemistry” This study found that overexpression of the enzyme SSAT in a mouse model significantly reduced prostate tumor size and progression, suggesting it could be a promising strategy against prostate cancer.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
4 citations
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May 2018 in “International Journal of Molecular Sciences” This review discusses genetically-engineered mouse models for studying melanocytes and reports no new experimental findings; it emphasizes their potential to address unanswered questions in melanoma biology.
January 2016 in “Human & Experimental Toxicology” This study reported that CCT oligodeoxynucleotide induced patchy hair loss in male mice with specific genetic traits, suggesting gender and genetic preferences in immune response.
This article describes the "naked" mouse mutation, which results in hair loss and is linked to chromosome 15, noting similarities and differences with human ectodermal dysplasia, but provides no new experimental findings.
35 citations
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January 2006 in “Cancer Research” This study found that overexpressing PKCδ in transgenic mice did not reduce squamous cell carcinoma development induced by UV radiation, despite its effectiveness against TPA-promoted cancer in these mice.
28 citations
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December 2005 in “Oncogene” May 2010 in “International Journal of Cosmetic Science” This study found that reduced hair samples showed higher protease degradation than permed hair, which increased with repetitive perming, and degradation was influenced by the type of mercaptan used.
65 citations
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March 2004 in “Journal of Clinical Investigation” In this study, overexpression of ornithine decarboxylase accelerated basal cell carcinoma in Ptch1+/– mice under UVB exposure, while its inhibition reduced tumor induction, suggesting potential chemoprevention strategies in humans.
29 citations
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December 2017 in “Molecular therapy” This study found that enzyme replacement therapy in mice with a severe form of classical homocystinuria improved metabolic patterns and alleviated many clinical symptoms.
6 citations
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April 2012 in “PloS one” This study used transgenic mice to show that disrupting TGF-β signaling in K14+ progenitor cells led to increased stem cell proliferation in the tongue.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” This research highlights the potential of non-coding RNAs as biomarkers and therapeutic targets in dermatology, while experimental studies on a unique GVM case suggest CCM2L may modulate disease severity, advancing understanding of genetic mechanisms in rare skin disorders.
3 citations
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February 2024 in “Forensic Sciences Research” In this study, researchers found that massively parallel sequencing of mitochondrial DNA (mtDNA) can improve information recovery from forensic samples, with successful full region amplification possible from as few as 2,000 mtDNA copies, albeit with variability in heteroplasmy among hair samples from the same donor.
1 citations
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April 2016 in “Journal of Investigative Dermatology” This study found that facial sun damage scores from UV photography correlate with skin cancer and melanoma risk factors, suggesting this technology may help identify individuals at higher risk.
119 citations
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November 2016 in “American journal of human genetics” This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.
June 2026 in “Disease Models & Mechanisms” This editorial introduces a special issue on "In Vitro Models of Human Disease" in DMM, highlighting how these models enhance understanding of disease mechanisms, accelerate drug development, and support personalized treatment strategies.
5 citations
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January 1993 in “PubMed” In this study, retinoic acid treatments induced glandular and feather formation in embryos by altering positional values and activating specific retinoic acid nuclear receptor gene expression.
3 citations
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July 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that K17−/− mice suffered more severe hair follicle damage but showed reduced epidermal inflammation after ionizing radiation, with K17's absence leading to aberrant cell cycle progression due to altered p53 genome binding and reduced B-Myb degradation.
January 2006 in “Chieh P'ou Hsueh Pao” In this study, the researchers observed that transfecting hair follicle cells with an amino-terminal truncated beta-catenin gene significantly increased cell proliferation, potentially by enhancing c-myc gene expression.
August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.
2 citations
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September 1998 in “Der Hautarzt” A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
This study found that the survival and proliferation of mouse melanocytes expressing the GNAQQ209L oncogene were impaired by interactions with the epidermal microenvironment, suggesting a possible mechanism for the rarity of these mutations in epidermal melanomas.
November 2025 in “PLoS ONE” This study found that synthetic RNA and DNA trigger significant increases in certain chemokines in human keratinocytes, predominantly via NF-κB activation, without evidence of alternative splicing, suggesting other regulatory pathways may be involved.
9 citations
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October 2014 This chapter hypothesizes that vitamin D signaling in the skin may suppress UV radiation-induced epidermal tumor formation, reviewing potential mechanisms without reporting new clinical results.