8 citations
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March 2014 in “American Journal of Pathology” This study found that hairless mice with homozygous mutations developed significantly more aggressive basal cell carcinomas and a heightened inflammatory response to UVB exposure compared to their haired littermates.
March 2026 in “Frontiers in Medicine” In this review, recent studies on muscle atrophy are highlighted, revealing insights into its complex pathogenesis, therapeutic interventions such as hormone therapy, and diagnostic advancements, while emphasizing the need for personalized approaches and addressing challenges like small sample sizes and methodological diversity.
119 citations
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January 2012 in “Nutrition & Metabolism” This article suggests that modern lifestyle changes, including diet, stress, and chronic anti-inflammatory medication use, may disrupt the natural process of inflammation resolution, increasing vulnerability to chronic disease.
19 citations
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March 2018 in “Expert Opinion on Drug Safety” In this narrative review, the researchers reported that the overall safety profile of drugs used for treating spondyloarthritis is generally good, with serious adverse events being rare, but emphasized the need for rheumatologists to tailor treatments and closely monitor patients for potential adverse events.
4 citations
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June 2013 in “The Journal of Rheumatology” This abstract describes a program with various presentations and events focused on Canadian excellence in rheumatology but reports no new research findings.
1 citations
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March 2015 in “Oriental Journal of Chemistry/Oriental journal of chemistry” This study developed and validated a precise RP-HPLC method for simultaneously estimating minoxidil and aminexil in pharmaceutical formulations with good accuracy and specificity.
August 2025 in “MedScien” This study highlights factors contributing to increasing seborrheic alopecia among teenagers, including hormonal, lifestyle, and psychological influences, and suggests integrated treatment strategies including medication, lifestyle adjustments, and psychological interventions.
11 citations
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February 2013 in “Clinical Endocrinology” This study found that the prevalence of hyperprolactinaemia in healthy premenopausal female blood donors is low and not affected by hormonal contraceptive use, with stress-related factors being the most common cause.
5 citations
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December 2017 in “The Journal of Dermatology” This report describes a unique case of Schöpf–Schulz–Passarge syndrome in a Taiwanese man linked to a previously unreported homozygous WNT 10A mutation, underscoring its role in ectodermal dysplasia.
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.
This case report describes how unique endoscopic findings led to the diagnosis of Satoyoshi syndrome coexisting with systemic lupus erythematosus and gastric adenoma, expanding the endoscopic understanding of the syndrome.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This presentation argues that post-exposure syndromes like PSSD and Long COVID form a coherent group of conditions driven by complex interactions in high-dimensional state spaces rather than singular molecular pathways.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
17 citations
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April 2013 in “Experimental and Therapeutic Medicine” This study found that anti-Sjögren's syndrome type B antibodies are highly specific for diagnosing systemic lupus erythematosus and are associated with several clinical symptoms, including cheek erythema and alopecia.
January 2024 in “Wiadomości Lekarskie” In this study, a child's diagnosis of Silver-Russell syndrome was confirmed through phenotype data, genetic testing, and the exclusion of other developmental conditions, revealing a need for a multidisciplinary care approach.
June 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that inhibiting the interaction between HOTAIR and EZH2 can block pro-fibrotic gene expression in fibroblasts and interfere with tissue remodeling in systemic sclerosis patient skin.
January 2023 in “Indian Dermatology Online Journal” This case report describes a novel association between uncombable hair syndrome and Zellweger syndrome due to a homozygous mutation in the PEX12 gene.
22 citations
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January 1999 in “Dermatology” This case report describes a rare instance of double-lined frontoparietal scleroderma en coup de sabre and suggests a genetic basis involving postzygotic mosaicism.
July 2022 in “medRxiv (Cold Spring Harbor Laboratory)” This review supports an autoimmune hypothesis for Satoyoshi syndrome, noting associations with autoantibodies and autoimmune diseases, and reports an observed improvement in most patients with corticosteroid or immunosuppressant treatments.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study examines how conditions like PSSD, Long COVID, and ME/CFS form a "Post-Exposure Syndromes" family, initiated by transient exposures but persisting due to complex state-space dynamics, and suggests improving pharmacovigilance to better address and understand these persistent syndromes.
2 citations
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June 2025 in “Medicina” This retrospective study in pediatric patients with Sjögren's syndrome found consistent indications of tear film instability and identified systemic features like arthralgia, Raynaud's phenomenon, and frequent autoantibody positivity, underscoring the value of integrating clinical and ophthalmological assessments for early diagnosis.
1 citations
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July 2024 in “JCEM Case Reports” This report highlights a new genetic variant of Woodhouse-Sakati syndrome in two sisters from the first identified family case in Russia, emphasizing the varied manifestations of the disorder and the importance of genetic testing for diagnosis and patient-specific treatment planning.
July 2025 in “Human Genomics” This source reports that a comprehensive review of LSS gene variant phenotypes enhances understanding of congenital hypotrichosis 14 and could guide more precise genetic counseling and future research into disease mechanisms and potential therapies.
43 citations
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March 2010 in “Endocrine”
55 citations
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November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
December 2025 in “Philippine Journal of Internal Medicine” This case report describes a 45-year-old woman with an SLE-SSc overlap syndrome who experienced significant improvement in symptoms after tailored immunosuppressive therapy including prednisone and mycophenolate mofetil.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
1 citations
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January 2019 in “Open Journal of Internal Medicine” This case report describes a 19-year-old patient with systemic lupus and a composite heterozygosis SC with thalassemic component, highlighting the diagnostic challenge when symptoms of both conditions occur simultaneously.
23 citations
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February 2020 in “PLOS genetics” This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.