31 citations
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October 2019 in “Genes & Diseases” This study identified significant gene expression differences in human basal cell carcinoma, including up-regulation of zinc finger encoding genes, which are not entirely reflected in current mouse models.
11 citations
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July 2014 in “Gene” This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.
1 citations
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January 2012 In this study, the researchers cloned and analyzed the CRABP I gene in Inner Mongolian cashmere goats, finding its highest mRNA expression at 90 days in embryo skin compared to later stages.
2 citations
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December 2021 This study found that the observed isotropic ss-ECD spectrum of finasteride is influenced by the anisotropy of locally oriented crystals, offering new possibilities for analyzing solid-state chiral materials.
November 2021 in “Journal of the European Academy of Dermatology and Venereology” This study found that children with COVID-19 experienced more frequent acral ischemic lesions, whereas telogen effluvium was the most common skin manifestation in adults.
59 citations
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January 2011 in “Retina-the Journal of Retinal and Vitreous Diseases” This study suggests that finasteride may be a promising treatment for chronic central serous chorioretinopathy, but larger controlled trials are needed to confirm its efficacy.
3 citations
,
August 2021 in “European journal of medical research” This case report suggests that a cutaneous microbial biofilm could be an underlying cause of red scrotum syndrome, based on the observed onset and treatment response in one patient.
1 citations
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January 2022 in “Research Square (Research Square)” This study found that CRISPR/Cas9 efficiently edited two cellulose synthase-like genes in spinach, significantly altering root hair growth patterns and suggesting potential for large-scale genome editing in this crop.
40 citations
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June 2013 in “Scientific Reports” This study found an association between a splice site variant in the KRT71 gene and curly hair in Selkirk Rex cats, identifying a significant locus on chromosome B4.
June 2025 in “Rapid Communications in Mass Spectrometry”
63 citations
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November 2009 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that the subtilisin protease Sub3 from Microsporum canis is essential for adherence to the feline epidermis but is not necessary for invading epidermal structures.
April 2023 in “Journal of Investigative Dermatology” This study found variation in erythema induction across skin types, suggesting different SSR dose responses and highlighting a potential model for tailoring anti-inflammatory treatments.
October 2024 in “Journal of the Endocrine Society” This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.
3 citations
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January 2003 in “Synthetic Communications” This research describes the synthesis of 16β-chloro- and 16β-bromo-cyproterone acetate, detailing the chemical processes involved, but reports no clinical outcomes.
11 citations
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January 2020 in “BMC pediatrics” This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.
This article is a reference guide to skin conditions and syndromes, providing no new research findings but covering clinical features, diagnosis, pathogenesis, and treatments.
822 citations
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January 2021 in “Genome biology” This study presents a new method called scMC that effectively distinguishes biological from technical variation in single-cell genomics datasets, demonstrating its ability to accurately align and detect biological signals across various experiments.
21 citations
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August 2002 in “British Journal of Ophthalmology” This article discusses topical and intralesional cidofovir use for SCC and suggests a successful outcome in one case, with no systemic toxicity observed so far.
April 2017 in “Journal of Investigative Dermatology” This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
December 2010 in “OhioLink ETD Center (Ohio Library and Information Network)” In this study, total Sry transcript expression in various rat tissues was linked to Acsl3 expression, suggesting that Sry may play a role in regulating fatty acid metabolism.
October 2007 in “Clinical Biochemistry” This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.
4 citations
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August 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed the iCOUNT tool, which provides insights into stem cell behavior by tracking cell division events and molecular consequences in human and mouse neural stem/progenitor cells.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
1 citations
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April 2018 in “Journal of Investigative Dermatology” This study found that Polycomb repressive complex 1 is crucial for skin development and stem cell specification, influencing gene activity beyond its known repressor functions.
5 citations
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December 2011 in “Drug Research” This study found that cortexolone 17α-propionate showed strong topical antiandrogenic activity, outperforming progesterone and several known antiandrogens, but lacked systemic antiandrogenic effects in animal models.
This study found that super-enhancers in squamous cell carcinoma stem cells are distinctly different from those in normal skin stem cells, with ETS2 playing a crucial role in promoting tumor growth.
The document's conclusion cannot be determined as the content is not available.
The document's conclusion cannot be determined as the content is not available.
March 2026 in “Journal of Investigative Dermatology” Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.