2 citations
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May 2023 in “Journal of Advanced Research” In this study, researchers identified two genetic mutations associated with producing finer and denser wool in fine-wool sheep, involving the genes KRT74 and EDAR, which may guide future breeding efforts to enhance wool quality.
June 2025 in “British Journal of Dermatology” This study details a case of a 20-year-old woman with APECED syndrome and alopecia areata who experienced complete scalp hair regrowth and improved quality of life after nine months of ruxolitinib treatment, highlighting the drug's effectiveness for severe AA linked to AIRE gene mutation.
January 2026 in “Clinical and Experimental Dermatology” In this case report, complete hair regrowth was observed in a patient with autoimmune-related alopecia areata after treatment with a Janus kinase inhibitor, suggesting its potential effectiveness for both genetic and sporadic forms of the condition.
1 citations
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November 2017 This chapter reviews classic regeneration models in planarian worms and amphibian limbs, focusing on the role of stem cells, and reports no new experimental results.
April 2018 in “Journal of Investigative Dermatology” This study found that ERBB2 mutations and amplifications are likely key drivers of extramammary Paget disease, suggesting potential for targeted therapies and cancer immunotherapy due to the moderately high mutational load observed.
17 citations
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September 2019 in “Journal of Cell Biology” This study found that despite carrying an activating Hras mutation, hair follicle stem cells integrate into normal skin without causing tumors, unlike similar mutations in the epidermis, suggesting unique tumor-suppressing mechanisms in hair follicles.
February 2023 in “Research Square (Research Square)” This study reports that a new mouse model with a CARD14 mutation successfully mimics key human PRP symptoms, and anti-IL-17A antibody significantly reduces these symptoms.
7 citations
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January 2019 in “Australasian Journal of Dermatology” In this study, the CYP 21A2 gene p.V281L mutation was associated with an increased susceptibility to familial frontal fibrosing alopecia, suggesting an antigen-driven mechanism linked to certain human leukocyte antigen haplotypes.
42 citations
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April 2009 in “Human Genetics” This study suggests that the AGA risk haplotype in Europeans was driven to high frequency by positive selection, likely associated with a variant in the EDA2R gene.
1 citations
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December 2020 in “International journal of molecular sciences” This study suggests that biallelic loss of the Hedgehog signaling repressor Patched alone in Keratin 5+ epidermal cells is insufficient to drive basal cell carcinoma development unless exogenous stimuli trigger accumulation of BCC precursor cells.
13 citations
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January 2023 in “Annual Review of Cancer Biology” This study suggests that cancer risk may be influenced by the balance of pro- and anti-oncogenic mutants in normal tissues rather than by the total number of mutations.
19 citations
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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.
37 citations
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January 2006 in “Carcinogenesis” In this study, crossing mice overexpressing antizyme with MEK mutants significantly delayed tumor development and reduced tumor frequency, likely by slowing cell growth in skin tumors.
499 citations
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September 2011 in “Cell” This study found that intradermal adipocyte lineage cells in mice are necessary and sufficient to activate follicular stem cells, highlighting their role in regulating skin stem cell activity.
58 citations
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July 2005 in “Molecular and Cellular Biology” This study showed that a 2-kilobase upstream region of the mouse keratin 17 gene enables targeted GFP expression in major epithelial appendages of transgenic mice, indicating sonic hedgehog's involvement in its regulation.
November 2014 in “Elsevier eBooks” This article reviews the clinical and biochemical features of genetic mutations affecting dihydrotestosterone production and their potential role in male pseudo-hermaphroditism, but presents no new clinical results.
686 citations
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February 2002 in “Current Opinion in Cell Biology” Keratin filaments are crucial for cell structure and protection, with ongoing discoveries about their genes and functions.
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.
16 citations
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September 2020 in “Journal of Internal Medicine” This review discusses the role of cellular heterogeneity and interaction in the skin's ability to maintain homeostasis despite cancer-causing mutations, noting the potential for these cells to also drive tumor formation, but reports no new clinical results.
112 citations
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January 2013 in “Experimental dermatology” This article offers a viewpoint on hidradenitis suppurativa pathogenesis, suggesting that impaired Notch signalling from γ-secretase mutations may drive inflammation and link the condition to other Th17-driven diseases.
This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.
July 2025 in “Journal of Investigative Dermatology” Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.
333 citations
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March 2000 in “Proceedings of the National Academy of Sciences” In this study, researchers established that increased expression of the human GLI-1 gene in mouse skin leads to the development of tumors that closely resemble human basal cell carcinomas, without requiring additional mutations in the p53 or Ha ras genes.
2 citations
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August 2008 in “Oncotarget” In this study, intravital microscopy in live mice showed that apoptosis in hair follicle regression may be driven by apoptotic cells inducing neighboring cell death, with stem cells likely providing a pro-survival signal.
January 2026 in “Experimental Dermatology” This review discusses the role of keratinocytes in hidradenitis suppurativa, highlighting their genetic and metabolic influences on disease progression without presenting new clinical results.
July 2023 in “Journal of Biomedical Science” In this review, the authors emphasize that phenotypic heterogeneity in genetic systems and human diseases is influenced by stochastic fluctuation and network topology, proposing that ultrasensitivity and threshold effects explain this variability, which may inform strategies for preventing and treating genetic diseases.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the ablation of Tet2/Tet3 genes in mouse skin epithelial cells led to altered hair shape and length, highlighting their role in regulating hair follicle gene expression and chromatin structure.
2 citations
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April 2018 in “Journal of Investigative Dermatology” This case study in a renal transplant patient observed that eruptive KA-type SCCs exhibited aggressive behavior and genetic expression changes following intralesional chemotherapy, indicating potential caution against routine use of such treatments in similar cases.
October 2025 in “Frontiers in Molecular Biosciences” This source critically examines Bruce Ames's influential contributions to biochemistry, particularly his theories on oxidative stress and mitochondrial DNA damage in aging, while acknowledging current challenges to his work and highlighting his lasting impact on the fields of mutagen screening and public health.
1 citations
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April 2021 in “Current Stem Cell Reports” This review discusses the role of metabolism in maintaining adult stem cell homeostasis with aging and highlights the potential benefits of dietary restrictions on stem cell function and longevity. It reports no new clinical results and emphasizes the need for further molecular studies.