November 2024 in “Jurnal Biomedika dan Kesehatan” This study explores premature graying of hair, outlining potential causes such as genetic factors, nutritional deficiencies, and autoimmune disorders, and evaluates various management strategies including nutritional supplements, pharmacotherapy, and addressing underlying conditions.
November 2005 in “CRC Press eBooks” This article reviews the development and challenges of skin penetration enhancers, highlighting their limitations in compatibility and safety, and reports no new clinical findings.
46 citations
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May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the state-of-the-art knowledge on pseudoxanthoma elasticum, summarizing recent advancements in genetics, pathomechanisms, and potential treatments but reports no new clinical findings.
September 2023 in “Journal of the American Academy of Dermatology”
April 2018 in “Journal of Investigative Dermatology” This study found that 1550-nm Er:Glass fractional laser treatment significantly increased hair density and shaft diameter in patients with androgenetic alopecia, though the mechanism may not involve Wnt10A or IGF-1 expression.
3 citations
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August 2021 in “Research Square (Research Square)” This study found that increased mRNA expression of the Ectodysplasin-A2-Receptor, observed across multiple species and tissues, may exacerbate inflammation during aging, suggesting potential benefits of blocking EDA2R/EDA-A2 signaling.
224 citations
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February 2013 in “The Journal of clinical investigation/The journal of clinical investigation” This study identifies SOX9 as a critical downstream effector of ERG in TMPRSS2:ERG fusion-positive prostate cancer, indicating its role in tumor invasion and growth.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that disrupting the RPGRIP1L gene in mice impaired desmosome function, causing skin blistering, and their findings suggest that PKCβII inhibition could help treat pemphigus.
1 citations
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October 2025 in “International Journal of Molecular Sciences” This study found that zebrafish with a mutation in the GDP-fucose biosynthesis gene exhibited enhanced and faster regeneration of mechanosensory hair cells, implicating the importance of this gene and Notch signalling regulation in hair cell regeneration mechanisms.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers reported that IL-17C plays a key pro-inflammatory role in human skin diseases and may be a promising therapeutic target for inflammatory skin conditions.
September 2022 in “Frontiers in genetics” This case study reports a new LAMB3 mutation linked to junctional epidermolysis bullosa with severe urinary tract stenosis, outlining treatment challenges and expanding knowledge of EB-related urological complications.
September 2019 in “Journal of Investigative Dermatology” This study found that using human induced pluripotent stem cells (iPSC) carrying the causal mutation of Epidermolysis Bullosa simplex provides a robust model for understanding its molecular mechanisms and testing potential therapeutic targets.
8 citations
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May 2022 in “Orphanet Journal of Rare Diseases” This study reported that the Undiagnosed Disease Program at Ghent University Hospital successfully provided definite diagnoses for 18% of referred adults with suspected rare diseases, primarily through genomic technologies.
1 citations
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July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
July 2022 in “British Journal of Dermatology” This study found that epidermal growth factor receptor inhibitors used in cancer treatment induce a distinct inflammatory response in hair follicles, marked by immune privilege collapse and upregulation of inflammatory pathways.
November 2022 in “Journal of Investigative Dermatology” This study provides evidence that ILC1-like cells can induce alopecia areata in previously healthy human hair follicles, challenging the view that it is solely an autoantigen-dependent autoimmune disease.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
33 citations
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August 2008 in “American Journal Of Pathology” This study found that K6a expression in mouse sebaceous gland ducts correlates with Hedgehog signaling, suggesting a role in duct fate.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
13 citations
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March 1997 in “Research in Veterinary Science/Research in veterinary science” This study found that epithelial keratin K 6 is associated with hyperkeratotic and ulcerated changes in the gastric pars oesophagea of pigs, suggesting epithelial proliferation plays a role in ulcer development.
June 2023 in “British Journal of Dermatology” This case study confirmed a diagnosis of Werner syndrome in a 27-year-old woman through genetic testing, highlighting the condition's characteristics and the importance of multidisciplinary management.
April 2018 in “Journal of Investigative Dermatology” This study found that combining CelluTome system and RCM is a safe and effective protocol for evaluating wound healing responses in patients with epidermolysis bullosa.
This study identified the combination of NCBP3, SDHA, and PTPRA as stable reference genes for normalizing gene expression in goat skin tissue research.
57 citations
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July 2000 in “Toxicology Letters” This study found that the K6/ODC transgenic mouse model is highly sensitive to identifying genotoxic carcinogens, showing 100% concordance with traditional rodent bioassays.
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.
April 2026 in “Regenerative Medicine” This source does not report specific results but compiles information on recent advancements in Advanced Therapy Medicinal Products and regenerative medicine from non-academic sources as of March 2026.
41 citations
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December 2019 in “Science Translational Medicine” This study found that EGFR-targeted cancer therapy can cause skin toxicities by disrupting epidermal signaling, allowing microbiota invasion and inflammation, but identified a potential treatment approach using FGF7 or SOS expression to restore barrier integrity.
1 citations
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January 2013 This study observed that inducible deletion of the Ugcg gene in mouse epidermis led to a significant reduction in GlcCers and epidermal POS-Cers, causing impaired skin barrier function and delayed wound healing.
8 citations
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March 2023 in “Journal of Clinical Epidemiology” This updated guidance from the GRADE working group addresses issues with assessing inconsistency in treatment effect estimates and evaluating the credibility of effect modifiers in systematic reviews.
21 citations
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December 1994 in “Journal of Investigative Dermatology”