5 citations
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May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
February 2023 in “Journal of dermatology” This letter reports the first known Japanese case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene.
This study concluded that removing alopecia and mucous membrane components from the CLASI-A score limits the ability to capture crucial clinical information about cutaneous lupus erythematosus activity, recommending their retention.
February 2009 in “Journal of The American Academy of Dermatology” This study suggests that fractional infrared technology may effectively improve cervical skin laxity by enhancing dermal thickness without adverse effects in a small pilot group.
July 2018 in “Elsevier eBooks” This article reviews the clinical presentation, diagnosis, and treatment options for discoid lupus erythematosus and reports no new clinical results.
7 citations
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March 2001 in “Journal of the European Academy of Dermatology and Venereology” This case report highlights the complexity of lupus erythematosus/lichen planus overlap syndrome, noting a high potential for progression to systemic lupus erythematosus.
23 citations
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August 1983 in “PubMed” This case report details a 17-year-old girl with systemic lupus erythematosus and recurrent infections linked to a complete isolated Clq deficiency.
September 2015 in “Philippine Journal of Internal Medicine” This case report describes a 30-year-old female with overlap syndrome involving systemic lupus erythematosus and scleroderma, where individualized treatment significantly reduced her pericardial effusion.
20 citations
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August 2003 in “Clinical and Experimental Dermatology” In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.
29 citations
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February 2016 in “International Journal of Dermatology” This study found that patients with lichen planus were significantly more likely to have dyslipidemia, particularly with higher triglyceride levels.
January 2025 in “Dermatology Research and Practice” In this research, RNA expression analysis of scalp biopsies from lichen planopilaris patients revealed changes in specific genes after treatments with hydroxychloroquine, narrow band UVB, or low level laser light therapy, suggesting potential biomarkers and implicating M2 macrophages in the disease's immunopathogenesis.
8 citations
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November 2009 in “The Neurologist/The neurologist” This case report highlights a 21-year-old woman with seizures, mental retardation, spastic diplegia, and ichthyosis consistent with Sjogren-Larsson syndrome, and emphasizes the importance of differential diagnosis when additional symptoms are present.
July 2021 in “Advances in laboratory medicine” This article reviews differential diagnosis approaches for 46,XY DSD, proposing a diagnostic algorithm focused on biochemical and genetic data, without presenting new clinical results.
September 2022 in “Biomedicines” This study found that lipid accumulation product (LAP) and free androgen index (FAI) can highly predict liver steatosis in women with PCOS phenotype A.
12 citations
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March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.
November 2021 in “World Family Medicine Journal /Middle East Journal of Family Medicine” This review discusses evidence from recent clinical trials showing inclisiran effectively lowers LDL cholesterol levels in patients with cardiovascular disease, leading to its use in the UK despite not being approved by the FDA.
13 citations
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September 2019 in “Scientific Reports” In this study, high levels of the protein Flii in mice were associated with worsened symptoms and inflammation in ulcerative colitis, suggesting Flii may inhibit mucosal healing.
May 2014 in “Clinical and Experimental Dermatology” A 70-year-old woman with a rare skin condition improved after treatment with topical steroids and acitretin.
January 2016 in “Indian journal of drugs in dermatology” This case report describes a 48-year-old male with severe, itchy hypertrophic lichen planus who showed a 90% improvement in lesions following 4 months of treatment with oral acitretin, with no recurrence 6 months posttreatment.
73 citations
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April 2010 in “Anais Brasileiros de Dermatologia” This study concluded that dermoscopy enhances the diagnostic capability for cicatricial alopecia beyond clinical inspection and identified novel dermoscopic features such as blue-grey dots.
15 citations
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June 2023 in “Journal of Microbiology and Biotechnology” In this study, researchers found that an ethyl acetate extract of the green microalga Scenedesmus deserticola significantly increased the viability of human dermal fibroblasts by over 20% compared to a control and identified a potent anti-UV compound, loliolide, through further fractionation.
This chapter highlights various commercial and open-source light sheet microscopy systems, detailing their rapid evolution and integration of multimodal technologies, with a focus on the ZEISS Lightsheet Z.1 system's advanced design for direct imaging and specialized sample mounting.
9 citations
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August 2002 in “British journal of ophthalmology” This case report describes a young man diagnosed with encephalocraniocutaneous lipomatosis who had unique bilateral optic disc colobomas, a previously unreported association with this syndrome.
13 citations
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October 2005 in “Analytical Sciences” This study developed a method using LC/APCI-MS to measure the activity of steroid 5α-reductase, applied to kinetic studies and inhibitory tests with Finasteride in a rat prostatic enzyme model.
January 2011 in “Journal of The American Academy of Dermatology” Two patients had a rare combination of red skin spots and white scaly skin lesions not on the genitals.
November 2025 in “The Bioscan.” This case report describes a 30-year-old male with alopecia areata who recovered after treatment with the homeopathic remedy Pix Liquida.
13 citations
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February 2007 in “British Journal of Dermatology” EF and PXE not closely related.
57 citations
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September 2016 in “Arthritis Care & Research” This study found that people with systemic lupus erythematosus consulted primary care more frequently and with specific clinical features before diagnosis, and it developed a risk prediction model that may help in identifying at-risk individuals.
March 2026 in “Oral Presentations” This abstract reports pooled safety data from the WILLOW study for participants with cutaneous lupus erythematosus and systemic lupus erythematosus but does not provide new findings.
November 2023 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” This study investigated differences in gene expression in the mammary glands of SLICK and wild-type Holstein cattle, finding limited differences overall but identifying enriched pathways related to arachidonic acid metabolism and oxytocin production, which merit further exploration.