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.
7 citations
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February 2012 in “Journal of cutaneous pathology” This case report presents unique histopathological findings in skin lesions of hereditary mucoepithelial dysplasia that have not been previously documented.
36 citations
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July 2014 in “Neuromuscular Disorders” This study investigated a patient with spinal and bulbar muscular atrophy who had 68 CAG repeats, revealing early onset and unique symptoms not previously documented in the condition.
October 2022 in “Rheumatology (Bulgaria)” This case report details the challenging diagnostic journey of a 50-year-old woman with progressive supranuclear palsy, highlighting the disease's complex and variable clinical presentation.
1 citations
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April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
3 citations
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March 2019 in “Case Reports” This report highlights a case of possible association between myotonic dystrophy type 1 and basal cell carcinoma, urging clinicians to consider this link despite negative genetic testing for known hereditary BCC syndromes.
May 2023 in “Current Medicinal Chemistry” This review highlights the potential of microneedle devices in dermatology for conditions like skin aging and autoimmune skin diseases, emphasizing their ability to facilitate targeted drug delivery by creating temporary skin pathways.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
June 2026 in “The Egyptian Journal of Neurology Psychiatry and Neurosurgery” This review discusses the potential of mesenchymal stem cells and their secretome, mainly extracellular vesicles, in Parkinson's disease therapy, highlighting their neuroprotective abilities and therapeutic prospects, but it reports no clinical results.
1 citations
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July 2025 in “Journal of Human Immunity” This study found that administering minoxidil and PGE2 to pregnant mice with 22q11.2 deletion syndrome models corrected multiple developmental anomalies, including thymus growth and parathyroid positioning, by targeting prenatal mesenchymal differentiation.
This study found that the NuMA protein's microtubule-binding domain is essential for proper spindle orientation and differentiation in keratinocytes, affecting skin and hair development in mice.
5 citations
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December 2016 in “Microscopy Research and Technique” This study suggests that prenatal infusion of epidermal neural crest stem cells may improve certain neural markers and reduce cortical injury in a mouse model of methylazoxymethanol-induced malformations.
10 citations
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January 2012 in “Lupus” This case report is the first to associate NEMO syndrome with systemic lupus erythematosus, suggesting a potential role for NF-kB essential modulator in the pathogenesis of SLE.
1 citations
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November 2016 in “Frontiers in neurology” In this case report, a patient with Cronkhite-Canada syndrome also had mononeuritis multiplex, and the authors suggest that an autoimmune mechanism may be involved based on steroid responsiveness and electrophysiological findings.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
December 2024 in “Biological and Pharmaceutical Bulletin” In this study, researchers found that minoxidil nanocrystals delivered using MG-MXD@NP, containing methylcellulose and gum arabic, significantly improved hair growth in mice compared to a standard minoxidil lotion, with enhanced delivery to skin tissues and increased markers of hair follicle stem cell activity.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
September 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that dissolving microneedle array patches containing mesoporous silica nanoparticles can deliver antigen-loaded nanoparticles into mice effectively, inducing strong immune responses similar to traditional subcutaneous injection.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers used a reporter mouse model to identify and characterize distinct subtypes of dopaminergic neurons in the gut's enteric nervous system, revealing novel populations with potential implications for understanding their roles and vulnerabilities in disease.
5 citations
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December 2014 in “Molecular cytogenetics” This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.
22 citations
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February 2008 in “Journal of Neurochemistry” This study found that minoxidil prevents long-term serotonergic toxicity induced by MDMA in rats, primarily by opening mitochondrial KATP channels and involving Akt and MAP kinases in its neuroprotective mechanism.
12 citations
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April 2025 in “Discover Pharmaceutical Sciences” This review examines microneedle patches for drug delivery, detailing their designs, materials, manufacturing methods, and potential advantages, but reports no new clinical results.
July 2025 in “Malaria Journal” This study suggests that while Nanostring profiling identifies important processes in resolving MA-ARDS, solely targeting late-stage resolution by altering SPM production is not enough. The researchers conclude that combining multi-targeted adjunctive therapies with antimalarial drugs may be necessary to enhance survival and recovery.
July 2004 in “DOAJ (DOAJ: Directory of Open Access Journals)” This preliminary study explores the role of melancholic mania in anorexia nervosa, noting it may reinforce the condition's difficult-to-reverse pathology and is often accompanied by poor self-esteem and maternal fixation.
3 citations
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January 2002 in “Actas Dermo-Sifiliográficas” In this case report, a 23-year-old woman developed localized trichorrhexis nodosa after compulsively applying 3% minoxidil to her scalp for two months.
December 2025 in “International Journal of Pharmaceutics” PLGA-based microneedles show promise for painless, long-term drug delivery but need design and safety improvements.
This study is the first to report major spontaneous diseases in aging Julia Creek dunnarts, highlighting hormonal dysregulation and lymphoid neoplasia as common conditions in this endangered species.
12 citations
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August 2022 in “Journal of Controlled Release” In this study, a microneedle patch containing conditioned media from hypoxia-pretreated stem cells enhanced hair regeneration in an androgenetic alopecia mouse model by boosting perifollicular vascularization and hair follicle stem cell activation compared to minoxidil.
203 citations
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May 2017 in “Journal of controlled release” This review discusses completed and ongoing clinical studies on microneedle-based technologies for cosmetic, therapeutic, and diagnostic applications and reports no new clinical results.
June 2026 in “Frontiers in Oncology” In this study, researchers found that deficiencies in Gsdma1/2/3 significantly inhibited the initiation and progression of cutaneous squamous cell carcinoma (cSCC) in mice, suggesting GSDMA's role in promoting cSCC proliferation and its potential as a therapeutic target.