May 2023 in “Pharmaceuticals” In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.
This study found that Nubian ibex have developed genetic adaptations in response to their desert environment, including enhanced skin barrier, DNA repair, viral response, and metabolism of toxic compounds.
133 citations
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February 2017 in “PLoS Genetics” In this study, researchers used genetic data from over 52,000 men to identify over 250 genetic loci associated with severe hair loss and developed a predictive algorithm for determining hair loss risk.
82 citations
,
April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
58 citations
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December 2018 in “Nature Communications” This study found that male pattern baldness in European males is strongly heritable and associated with genetic markers linked to earlier puberty, bone density, and pancreatic function.
18 citations
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October 2023 in “Nature Communications” In this study, male-pattern baldness was strongly associated with a higher risk of keratinocyte cancers, particularly squamous cell carcinoma and melanoma, likely due to increased sun exposure on the scalp rather than androgen levels.
2 citations
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November 2024 in “Clinical Cosmetic and Investigational Dermatology” This Mendelian randomization study suggests a causal link between higher BMI and increased risk of psoriasis, atopic dermatitis, and hidradenitis suppurativa, potentially due to elevated biomarkers such as triglycerides and C-reactive protein.
2 citations
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August 2023 in “Development” In this study, researchers explored how hair follicle orientation is affected in the rosette fancy mouse and found that a mutation in the PCP gene Fzd6 caused reversed hair orientations in the posterior region, leading to the formation of unique whorls.
1 citations
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October 2023 in “Frontiers in endocrinology” This study found that sex hormone-binding globulin promotes facial aging, while sex steroid hormones such as testosterone and estradiol inhibit it, with growth hormone levels showing no significant effect.
November 2025 in “Frontiers in Immunology” In this study, researchers found significant links between specific metabolic reprogramming-related genes and alopecia areata risk, highlighting increased SQSTM1 expression in affected hair follicles compared to healthy ones.
64 citations
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October 2018 in “Thérapie” This report describes the enhancement of the French SNIIRAM/SNDS healthcare database through external data linkages, highlighting its potential use in medical research despite complexities in the integration process.
1 citations
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October 2024 in “Journal of Clinical Immunology” This study observed that adult Netherton syndrome patients showed a range of normal to diminished immune responses to polysaccharide, conjugate, and mRNA-based vaccines, with responses generally overlapping those of healthy controls, suggesting no consistent B- or T-cell immunodeficiency in this population.
December 2024 in “European journal of medical research” This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.
This case study reports that early genetic testing and targeted therapies, such as secukinumab, can significantly improve skin barrier function in patients with Netherton syndrome, despite persistent symptoms.
115 citations
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December 2019 in “The Plant Journal” This study found that nitrate, rather than ammonium, significantly enhances phosphate starvation responses in plants through a regulatory cascade involving NIGT1, SPX, and PHR1 proteins.
14 citations
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August 2014 in “The FASEB Journal” This study found that the catalytically inactive serine protease CAP1/Prss8 can still induce skin disorders in mice and is subject to inhibition by nexin-1, independent of its catalytic activity.
This study presents a rare instance of Netherton syndrome diagnosed incidentally in siblings of consanguineous parents, initially misdiagnosed as other skin conditions, emphasizing the need for careful evaluation in chronic skin cases to prevent misdiagnosis.
305 citations
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March 2008 in “AJP Endocrinology and Metabolism” This article reviews the regulation and roles of spermidine/spermine-N(1)-acetyltransferase (SSAT) in polyamine metabolism and its potential as a target in cancer and other diseases, without reporting new experimental results.
April 2018 in “DSpace@MIT (Massachusetts Institute of Technology)” Nephronectin is linked to worse outcomes in breast cancer and helps cancer spread.
2 citations
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August 2019 in “International Journal of Applied Pharmaceutics” This study explored the use of SOD-loaded niosomes as carriers to enhance the delivery of superoxide dismutase into hair follicles on guinea pig skin, finding that niosomes improved SOD penetration and preservation compared to free SOD, suggesting their potential as effective delivery vehicles.
3 citations
,
January 2020 in “Acta Dermato Venereologica” This clinical case report presents photographs of a patient with Netherton syndrome, highlighting severe inflammatory vegetative lesions on the pubic area and umbilicus.
32 citations
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May 1999 in “Biochemical and Biophysical Research Communications” This study found that the gene BSSP, a serine protease, is predominantly expressed in sebaceous glands and is overexpressed in nude mouse skin.
3 citations
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December 2021 This review explores fundamental aspects of niosomes in drug delivery, including their structure, preparation methods, and factors influencing their formation, but it reports no new experimental results.
2 citations
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September 2024 in “Asian Journal of Pharmaceutics” This research discusses advancements in niosomal drug delivery systems, highlighting their promising potential to improve targeted drug delivery due to their ability to encapsulate various drug types efficiently, offering advantages over traditional liposome systems in terms of chemical stability and therapeutic efficacy.
January 2026 in “Case Reports in Dermatological Medicine” In this case study, a young female with aseptic and alopecic nodules of the scalp achieved full resolution without recurrence using intralesional steroids.
32 citations
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March 2018 in “Neoplasia” This study suggests that nephronectin (NPNT) could serve as a novel prognostic marker for poor prognosis in a subgroup of breast cancer patients, associated with specific NPNT staining patterns.
52 citations
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September 2022 in “Viruses” This review discusses the functions of SARS-CoV-2 non-structural proteins in facilitating immune evasion and highlights possible therapeutic strategies, reporting no new clinical results.
2 citations
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September 2017 in “Journal of Investigative Dermatology” This study found that notch1 signaling is severely impaired in hidradenitis suppurativa patients with or without NCSTN or other gamma-secretase gene mutations, highlighting a canonical defect at the lesional tissue level.
7 citations
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March 2024 in “Scientific Reports” This study reports that the new neighborhood face index (NFI) demonstrates a remarkably high correlation with the physiochemical properties of benzenoid hydrocarbons, highlighting its potential as a predictive tool.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This article reviews Netherton syndrome, focusing on its genetic basis, clinical presentation, and treatment options, and reports no clinical results; the authors mention potential benefits of targeted therapies and gene therapy.