19 citations
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June 2020 in “BMC Cancer” This study reported that genetic changes in trichilemmal carcinoma resemble those in other skin cancers, with TP53 mutations associated with aggressive clinical outcomes.
May 2020 in “Research Square (Research Square)” This study found that trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting a similar pathogenesis, particularly in those with aggressive clinical courses linked to TP53 mutations.
April 2020 in “Research Square (Research Square)” This study reported genetic mutations in trichilemmal carcinoma similar to those found in other skin cancers, including TP53 mutations associated with aggressive disease.
September 2006 in “Experimental Dermatology” This review discusses the genetic pathways involved in melanoma and suggests that targeting these pathways with pharmacological inhibitors may provide a new therapeutic approach, though clinical results have been disappointing so far.
January 2005 in “Enlighten: Publications (The University of Glasgow)” In this transgenic mouse study, preliminary findings suggest that overt melanocyte hyperplasia may require prior keratinocyte hyperplasia, indicating a potential role for keratinocyte mutation in early melanoma development.
37 citations
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November 2017 in “Medical Sciences” This study suggests that melanoma tumor cells exhibit intrinsic plasticity, challenging the applicability of the cancer stem cell model to this malignancy.
1 citations
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July 2024 in “Journal of Investigative Dermatology” Immune cells boost stem cell activity in hairy moles, causing more hair growth.
21 citations
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February 2013 in “Clinics in Dermatology” This review discusses recent developments in targeted melanoma therapies, including BRAF/MEK/ERK pathway inhibitors and challenges like resistance and skin toxicities, but reports no new clinical results.
1 citations
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May 2024 in “Pediatric Blood & Cancer” In this case study, a transition to the MEK inhibitor trametinib successfully stabilized disease and reduced toxicity in a patient with refractory kaposiform lymphangiomatosis after prolonged sirolimus and steroid treatment.
This study found that loss of the DNA methyltransferase Dnmt3a, but not Dnmt3b, increased carcinogen-induced squamous tumors in murine epidermis, with combined deletion leading to more aggressive and metastatic carcinomas.
73 citations
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June 2010 in “PLoS Genetics” 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.
1 citations
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March 2015 in “Journal of the European Academy of Dermatology and Venereology” This letter to the editor shares a case study of lentiginous melanoma that appears clinically malignant but histopathologically benign, involving the BRAFV600R mutation.
9 citations
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April 2020 in “Journal of dermatology” This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.
In this case report, researchers diagnosed a 12-year-old girl with a nevus sebaceus of Jadassohn, characterized by a yellowish-pink plaque on the scalp and a genetic variant, following previous misdiagnosis as alopecia areata.
April 2016 in “Journal of Investigative Dermatology” This study found that in mutant NRAS melanoma, MEK inhibitors led to increased AKT signaling and reduced MIG6, a change that may enhance cell migration and invasiveness.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
April 2016 in “Journal of Investigative Dermatology” The researchers reported that SOX4 expression is significantly upregulated in melanoma and its knockdown in cell lines resulted in reduced tumor progression, suggesting potential for targeted therapies.
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.
3 citations
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October 2021 in “Clinical, Cosmetic and Investigational Dermatology” This review discusses the epidemiology, risk factors, clinical features, and management of scalp melanomas, highlighting their high mortality rates and specific challenges in diagnosis and treatment; it reports no new research findings.
September 2022 in “Scientific Reports” This study found that scalp melanoma often occurs in areas with androgenetic alopecia, and patients without alopecia might experience a later diagnosis due to hair coverage, leading to potentially worse outcomes.
93 citations
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October 2006 in “The International Journal of Biochemistry & Cell Biology” This review discusses melanocyte biology and its genetic and molecular basis, highlighting its relevance in understanding diseases like vitiligo and albinism, and reports no new findings.
2 citations
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January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
December 2022 in “International Journal of Molecular Sciences” This study used machine learning to identify FDA-approved drugs afatinib, neratinib, and zanubrutinib as potential KRASG12C inhibitors for resistant non-small-cell lung cancer, highlighting the potential of AI in drug repurposing.
5 citations
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September 2018 in “Journal of Investigative Dermatology” Keratinocyte cytokines and genetic variations influence the development of moles and skin pigmentation.
June 2026 in “International Journal of Molecular Sciences” This review synthesizes current evidence on the Warburg effect in anaplastic thyroid carcinoma and discusses potential therapeutic targets, but reports no new clinical results.
January 2026 in “International Journal of Molecular Sciences” This study found that inhibiting the Hedgehog pathway may reduce proliferation and migration in melanoma, suggesting its potential repurposing as a therapeutic target.
The research found that while Dnmt3a and Dnmt3b are not necessary for skin homeostasis in mice, the loss of Dnmt3a increases squamous tumor formation from carcinogens, and combined deletion of both results in more aggressive and metastatic tumors.
72 citations
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November 2017 in “Journal of developmental biology” This review discusses the role of Hedgehog signaling in epidermal and hair follicle development and its involvement in basal cell carcinoma, without reporting new empirical findings.
17 citations
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July 2024 in “Frontiers in Oncology” This review discusses recent advances in understanding Merkel cell carcinoma biology, including the development of genetically-engineered mouse models and potential therapeutic targets, but reports no new clinical results.
13 citations
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June 2024 in “Frontiers in Genetics” This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.