17 citations
,
September 2022 in “Biomaterials Research” This study found that the film-trigger applicator system enhanced drug delivery efficiency and skin penetration of dissolving microneedles compared to traditional patch systems in both lab and animal models.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
76 citations
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June 2015 in “Journal of biomedical science” This study demonstrated that dominant mutations in mouse gasdermin A3 disrupt mitochondrial oxidative stress regulation, suggesting a gain-of-function effect on epidermal differentiation.
5 citations
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January 2022 in “Journal of Clinical Medicine” This study observed that videodermoscopic assessments of dermatomyositis patients revealed specific vascular and pigmentary features, suggesting it may be useful for preliminary diagnosis.
5 citations
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September 2021 in “Journal of Medical Biochemistry” This study found that Wet-type Age-Related Macular Degeneration patients had higher oxidative stress and HMGB-1 levels compared to healthy controls, suggesting a link to increased tissue inflammation and necrosis.
1 citations
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January 1998 in “International journal of cancer” In this mouse study, topical 1,25-dihydroxyvitamin D3 protected against cyclophosphamide-induced hair loss and inhibited mammary tumor growth, with effects varying by sex and tumor presence.
1 citations
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April 2022 in “Rheumatology” This case study describes a 4-year-old boy with juvenile dermatomyositis whose severe subcutaneous edema resisted conventional treatment, necessitating aggressive immunosuppression for disease control.
This study found that fibroblasts from Emery-Dreifuss muscular dystrophy patients with certain genetic mutations overexpress markers of fibrosis, and gene correction techniques reduced fibrogenic molecule expression in cell models, suggesting potential therapeutic applications.
7 citations
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July 2001 in “Endocrinology” This study observed that knocking out the 1α-hydroxylase gene in mice resulted in rickets and growth retardation, demonstrating the enzyme's crucial role in vitamin D function in animals.
15 citations
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September 2018 in “Frontiers in Plant Science” This study identified that downregulation of the gene BcFLA1 decreases root hair length in Brassica carinata under phosphate-deficient conditions, highlighting its role in root hair elongation.
May 2024 in “International Journal of Molecular Sciences” This study found that injecting mouse hair follicle-derived mesenchymal stem cells (moMSCORS) into C57BL/6 mice reduced the incidence and severity of type 1 diabetes by modulating immune responses, suggesting potential for therapeutic use due to their immunosuppressive effects.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
January 2017 in “Open Journal of Endocrine and Metabolic Diseases” This case report identifies an adolescent with symptoms indicative of Dunnigan-type partial lipodystrophy, emphasizing the need for early diagnosis to manage associated metabolic complications and improve self-esteem.
4 citations
,
October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
9 citations
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January 2005 in “Pediatric Dermatology” This report details the clinical presentation and management of cutaneous mastocytosis in Indian children and provides no new experimental findings.
1 citations
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March 2022 in “Journal of Dermatological Science” This study concluded that overexpressing TERT and BMI1 in cultured human dermal papilla cells extended their lifespan and enhanced their ability to induce hair growth in mice.
10 citations
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September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
This study found that DHEA significantly inhibited growth and induced autophagy in a mouse melanoma cell line, but showed only muffled inhibition and induced apoptosis in a human melanoma cell line.
56 citations
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November 1958 in “The Journal of Cell Biology” This study used electron microscopy to identify a distinct dendritic cell in the human epidermis, similar to the melanocyte, with unique structural features and variable melanin content.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.
7 citations
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August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
64 citations
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March 2004 in “Journal of Clinical Investigation” This study found that inhibiting the enzyme ornithine decarboxylase (ODC) prevented UVB-induced basal cell carcinomas in a mouse model, suggesting ODC is a potential target for chemoprevention strategies.
57 citations
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August 1997 in “Pediatrics International” This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.
75 citations
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June 2007 in “Journal of Biological Chemistry” This study found that the combination of MT-DADMe-ImmA and MTA selectively induced apoptosis in head and neck squamous cell carcinoma cell lines FaDu and Cal27, but not in normal fibroblasts or MTAP-deficient breast cancer cells.
277 citations
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July 2002 in “Molecular Endocrinology” In this study, homozygous VDR null mutant mice exhibited nonfunctional vitamin D receptors, leading to growth abnormalities and revealing the limited physiological importance of vitamin D pathways outside the classical receptor.
January 2025 in “Case Reports in Genetics” The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
6 citations
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December 2023 in “Journal of Molecular Cell Biology” In this study, Gsdma1/2/3 knockout mice showed reduced epidermal hyperplasia and inflammation when induced by PMA, which was attributed to decreased EGFR-Stat3/Akt signaling due to a decrease in related ligands.
4 citations
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October 2012 in “Expert Review of Dermatology” Dermoscopy greatly improves melanoma diagnosis and reduces unneeded surgeries.
69 citations
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December 2005 in “Nature Clinical Practice Endocrinology & Metabolism” Blocking the enzyme 11β-HSD1 might help treat obesity and metabolic issues.