October 2024 in “Skin Appendage Disorders” This study found that serum FABP4 levels were significantly higher in alopecia areata patients compared to healthy controls and may correlate with disease severity.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
1 citations
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January 1970 This review discusses the structure, expression, regulation, and potential functions of the nuclear receptor coactivator NcoA4 in cancerous and non-cancerous pathologies, but reports no new results.
July 2022 in “Research Square (Research Square)” This study found that Egyptian women with frontal fibrosing alopecia had lower serum PPARγ levels and a higher occurrence of PPARG gene polymorphism compared to healthy controls, suggesting a potential role for PPARγ in the condition's development.
January 2019 in “Przegląd Dermatologiczny” This report presents a case of a 57-year-old woman with APS-4, generalized alopecia, and rheumatoid arthritis, emphasizing the need to screen for other autoimmune disorders in patients with a single organ-specific autoimmune disease.
1 citations
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July 2025 in “Scientific Reports” This study found that combining diagonal earlobe crease with lipoprotein(a) provides strong diagnostic value for coronary heart disease.
9 citations
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November 2013 in “BMC Pharmacology and Toxicology” This study found that transient inhibition of eIF4E in a transgenic mouse model protected against cyclophosphamide-induced hair loss by inducing cell cycle arrest and reducing cellular apoptosis.
117 citations
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September 2003 in “Molecular & cellular proteomics” This study demonstrated the development of high-density protein microarrays allowing for antibody binding characterization and serum profiling from patients with autoimmune diseases, suggesting potential for diagnostic marker discovery.
August 2020 in “Benha Journal of Applied Sciences” This study observed that patients with androgenetic alopecia had significantly higher serum FABP4 levels compared to healthy controls, suggesting FABP4 may be involved in the condition's pathogenesis.
April 2023 in “Journal of Investigative Dermatology” In this study, researchers found that the protein eIF4E is crucial for keratinocyte proliferation in psoriasis, suggesting it as a potential treatment target for the condition.
1 citations
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December 2016 in “Revista română de medicină de laborator” This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.
This study presents the G4 transgenic mouse model, which suggests a direct link between polycystic ovary syndrome and the Gm10800 gene, offering a valuable tool for understanding the disease and testing treatments.
1 citations
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October 2023 in “PROTOPLASMA”
44 citations
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April 2008 in “The Journal of Clinical Endocrinology & Metabolism” This study concluded that although RBP4 and adiponectin levels are associated with visceral fat, they do not independently contribute to the development of PCOS.
7 citations
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April 2020 in “JIMD Reports” In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.
16 citations
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November 2018 in “The journal of pain/Journal of pain” This study found that in a rat model, 14,15-EET may alleviate central poststroke pain by enhancing thalamic inhibition through neurosteroid signaling, potentially outperforming gabapentin in early-stage treatment.
28 citations
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March 2010 in “British Journal of Dermatology” This abstract contains only supplementary material information and reports no new research findings.
8 citations
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July 2022 in “International Journal of Molecular Sciences” This study found that in estrogen receptor-positive breast cancer cells, 17β-estradiol repressed polyamine oxidase transcription by interacting with AP-1 sites on its promoter.
January 2025 in “Open Life Sciences” This study observed that transgenic mice with overexpression of HE4 developed keratitis and severe corneal opacity, suggesting that HE4 may significantly influence keratopathy and inflammatory responses in the eye.
42 citations
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July 2013 in “Gene” This study found that intron 3 VNTR polymorphism in the IL-4 gene may be associated with an increased risk of alopecia areata in the Turkish population.
October 2019 in “Al Mustansiriyah Journal of Pharmaceutical Sciences” This study found that the CTLA-4 gene polymorphism (rs733618) has no association with polycystic ovarian syndrome in the studied population.
27 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.
26 citations
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May 2012 in “Cellular and Molecular Life Sciences” This review discusses the structure, expression, regulation, and potential roles of NcoA4 in cancer and other pathologies, reporting no new experimental findings.
This study found that overexpression of erythropoietin disrupted hair growth in mice by affecting dermal fat lipogenesis and lipolysis, leading to poor hair follicle development and truncal alopecia.
August 2026 in “International Journal of Developmental Neuroscience” In this report, researchers describe a 13-month-old with neurodevelopmental disorder NEDESBA, confirming a TRAPPC4 gene mutation as the cause after excluding biotinidase deficiency, highlighting the importance of molecular testing for accurate diagnosis in overlapping metabolic and genetic conditions.
August 2023 in “Sabuncuoglu Serefeddin Health Sciences” This study investigated genetic markers for alopecia areata in the Turkish population, finding that the CT60 polymorphism might be linked to increased susceptibility, while no such association was found for the +49AG polymorphism; further studies are needed to confirm these findings.
20 citations
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February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
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.
10 citations
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August 2019 in “European Journal of Dermatology” This abstract provides no new clinical results; it discusses the role of surgery and interventional radiotherapy in treating cutaneous squamous cell carcinoma.
2 citations
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December 2018 in “Journal of cosmetic dermatology” This study observed a significant increase in cellular retinol-binding protein-1 expression in lesional skin of patients with alopecia areata compared to healthy controls, suggesting its potential role in the disease's pathogenesis.