November 2022 in “PubMed” This study found that inadequate thickness of deep dermal tissue in pigs is a key factor leading to fibrosis, with fibrosis likely serving a compensatory function for skin thickness.
January 2025 in “JCEM Case Reports” This report describes two cases of glucocorticoid resistance syndrome highlighting genetic diversity; one patient improved with low-dose dexamethasone despite negative genetic testing, while the other is monitored with a novel NR3C1 variant.
39 citations
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April 2018 in “Hormones” This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.
86 citations
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June 1998 in “Journal of Investigative Dermatology” This study found that mutations in the hairless gene in mice disrupt hair follicle integrity during catagen, leading to baldness due to disintegrating epithelial structures and loss of normal dermal papilla.
44 citations
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January 2017 in “Journal of Investigative Dermatology” This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.
3 citations
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February 2023 in “Journal of Investigative Dermatology” Ch55 may help reduce skin scarring and fibrosis.
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.
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.
12 citations
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January 2018 in “Biomaterials Science” This study observed that dermal papilla cell aggregates showed increased viability and gene expression on softer 3D substrates, indicating the importance of substrate stiffness in cellular behavior.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study explores how EGFR signaling impacts skin inflammation and follicular integrity during hair eruption, aiming to identify druggable pathways to mitigate skin inflammation in cancer patients receiving EGFR inhibitors.
September 2025 in “Jurnal Penelitian Pendidikan IPA” In this study, researchers identified two significant genetic polymorphisms in the 3'-UTR of the HSP70 gene in Moa buffalo, which may play an important role in heat adaptation, providing insights for conservation and performance improvement in tropical climates.
1 citations
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February 2018 in “British Journal of Dermatology” The CWARTS tool is a promising method for assessing warts and could improve treatment and research.
18 citations
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January 2018 in “BMC dermatology” This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.
January 2026 in “Dermatologic Therapy” This study found that elevated tissue RBP4 levels correlate with disease severity in alopecia areata and decrease after effective baricitinib treatment, while the rs3758539 polymorphism is linked to disease susceptibility but not to treatment response.
8 citations
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March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
12 citations
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September 2017 in “JDR Clinical & Translational Research” In this study, researchers observed that the success of treating hereditary vitamin D–resistant rickets in children depends on the mutation location in the VDR gene, notably with favorable dental development outcomes for those with the p.R391S mutation, despite persistent alopecia.
2 citations
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August 1995 in “Acta agriculturæ Scandinavica. Section A, Animal science” This study observed that adult male raccoon dogs undergo seasonal moults, with winter fur maturing by the end of November after significant hair growth in spring and autumn.
7 citations
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January 2020 in “Dermatology online journal” In this case report, adult-onset porokeratotic eccrine ostial and dermal duct nevus improved with topical tazarotene treatment, as evidenced by dermatoscopic images.
5 citations
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February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
November 2023 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” This study investigated differences in gene expression in the mammary glands of SLICK and wild-type Holstein cattle, finding limited differences overall but identifying enriched pathways related to arachidonic acid metabolism and oxytocin production, which merit further exploration.
September 2016 in “Journal of dermatological science” This study found that COL17 plays a key role in regulating epidermal keratinocyte differentiation and proliferation, influencing the expression of differentiation markers and cellular growth in specific conditions.
3 citations
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May 2024 in “Indian Journal of Dermatology” In this case report, researchers identified a potential adverse skin reaction, called SDRIFE or Baboon syndrome, caused by the drug tofacitinib in a 19-year-old woman being treated for alopecia subtotalis, leading the authors to recommend discontinuation of the drug.
114 citations
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July 2003 in “PubMed” This study found that KSR1 is necessary for v-Ha-ras-mediated skin tumor formation but not for MT-driven mammary cancer, indicating its potential as a therapeutic target in Ras/MAPK signaling-related tumors.
January 2024 in “Ankara City Hospital Medical Journal” This case report describes a 42-year-old woman with Rhupus, a rare overlap syndrome of rheumatoid arthritis and systemic lupus erythematosus, highlighting challenges in diagnosis due to non-specific clinical criteria and documenting specific symptoms such as inflammatory arthritis, malar rash, and hematological abnormalities observed during follow-up.
This study found that type XVII collagen is crucial for regulating epidermal cells' proliferation in mice and may be a promising target for anti-aging skin treatments.
7 citations
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April 2021 in “Journal of Lower Genital Tract Disease” This study concluded that erosive lichen sclerosus is a distinct subtype marked by red patches on hairless skin, while ulcerated lichen sclerosus typically results from trauma in uncontrolled dermatosis.
November 2022 in “Journal of Investigative Dermatology” In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.
June 2018 in “Chinese Journal of Dermatology” This study reported that connective tissue nevi show distinctive dermoscopic and RCM features, with RCM being particularly helpful for diagnosing lesions of less than one year in duration.
2 citations
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December 2010 in “PubMed” This study reported that a new two-point bending stiffness method effectively correlated with sensory assessments for hair styling gels but not for hair styling sprays, likely due to differences in polymer/hair composites.
50 citations
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January 2016 in “The FEBS journal” This review discusses the various roles of RANK signaling in bone remodeling, immune function, and epithelial differentiation, highlighting its potential involvement in cancer mechanisms; it reports no new clinical results.