February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
26 citations
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April 2011 in “British Journal of Dermatology” This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.
June 2013 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” 39 citations
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September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
5 citations
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November 2024 in “Journal of Clinical Immunology” This study reports that a 9-week-old infant with Netherton syndrome showed rapid and sustained symptom improvement, including skin microbiome normalization and developmental progress, after off-label dupilumab treatment, without adverse reactions.
2 citations
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April 2024 in “Journal of Clinical Psychopharmacology” In this study, dutasteride 1 mg daily reduced heavy drinking days and drinks per week among treatment-seeking men, particularly benefiting those with high baseline drinking to cope motives.
This study found that Mdm2 is critical for limiting p53 activity to maintain normal stem cell function in mouse skin, with impacts on tissue homeostasis and aging.
18 citations
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November 2016 in “Neuromuscular Disorders” This study found that patients with myotonic dystrophy types 1 and 2 often exhibit skin abnormalities, which correlate with genotype severity and serum vitamin D levels, and suggest premature aging.
11 citations
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May 2015 in “Stem Cells Translational Medicine” This study found that megestrol acetate increases the proliferation, migration, and adipogenic differentiation of adipose-derived stem cells through glucocorticoid receptor phosphorylation.
July 2025 in “Skin Appendage Disorders” In this study, researchers found that microinfusion of dutasteride using the MMP® technique did not show a statistical difference compared to placebo in clinical assessments for male androgenetic alopecia, though patients reported improvements in the vertex area.
July 2026 in “Research Square”
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.
41 citations
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July 2016 in “Journal of Investigative Dermatology” This study identified molecular differences between dysplastic nevi and common melanocytic nevi, including altered keratinocyte differentiation, increased hair follicle-related molecule expression, and distinct immune microenvironment characteristics in dysplastic nevi.
11 citations
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December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
41 citations
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July 2018 in “Frontiers in Neurology” This study suggests that myotonic dystrophies may qualify as segmental progeroid disorders due to molecular and clinical similarities with typical progeroid syndromes.
This study observed a significant correlation between stress levels and hair loss (telogen effluvium) among first-year female medical students at Muhammadiyah Malang University.
1 citations
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November 2025 in “International Journal of Clinical Pharmacy” This study confirms known risks of cladribine and reveals potential new safety concerns, emphasizing the need for careful monitoring for early acute toxicity.
8 citations
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October 2020 in “Pharmaceutics” This study explored using a chitosan oligomer coating for topical delivery of dutasteride-loaded nanostructured lipid carriers, aiming to reduce systemic exposure and cytotoxicity.
March 2024 in “Biochimica et biophysica acta. Molecular basis of disease” This study found that deferoxamine may protect against sensorineural hearing loss by reducing oxidative stress-induced hair cell death through iron chelation and activation of the Nrf2 signaling pathway in lab models.
3 citations
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September 2019 in “PLOS ONE” In this study, the authors identified the DHRS9 SNP rs72623193 as most significantly associated with response to dutasteride in treating male pattern hair loss, with additional variants potentially contributing.
16 citations
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January 2010 in “American Journal of Neuroradiology” This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.
August 2023 in “Dermatology reports” This case study of a 2-month-old boy with maple syrup urine disease highlights the dangers of restricting branched-chain amino acid intake, as it led to acrodermatitis dysmetabolica-like skin eruptions and hair loss, later resolved with careful dietary adjustments and monitoring.
March 2012 in “Society for Endocrinology BES 2012” This study presents a novel assay that allows for the simultaneous measurement of various androgens and 5α-reductase inhibitors in male serum, facilitating research into the biochemical effects of these inhibitors.
6 citations
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November 2008 in “Journal of Dermatological Science” Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
99 citations
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March 2013 in “Journal of Investigative Dermatology” This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.
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.
47 citations
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April 2017 in “European Journal of Pharmaceutics and Biopharmaceutics” This study found that dutasteride-loaded nanostructured lipid carriers coated with a stearic acid-chitosan oligomer are stable, less cytotoxic, and suitable for topical delivery to promote hair growth.
May 2025 in “The Journal of Rheumatology” This case report describes a 32-year-old Filipino female with mixed connective tissue disease who sequentially developed distinct autoimmune disorders over seven years, highlighting the complexities in diagnosis and management of overlap syndromes.
23 citations
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October 2012 in “ChemistryOpen” This study found that capped mesoporous silica nanoparticles conjugated with antibodies selectively released a dye when exposed to finasteride, with low detection limits and stable performance even after storage.
5 citations
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April 2024 in “Science China Materials”