2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” This case report identified a 4-month-old boy with Menkes disease, a neurodegenerative disorder of copper metabolism, noting symptoms like recurrent seizures, developmental delay, and specific physical characteristics, confirmed by genetic sequencing showing a pathogenic ATP7A mutation and low serum copper and ceruloplasmin levels.
20 citations
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May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
3 citations
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July 2023 in “Cells” This study found that topical application of recombinant human MG53 protein mitigated nitrogen mustard-induced skin injuries in mice by preserving epidermal integrity and hair follicle structure.
140 citations
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February 2014 in “Neuron” This study found that the opioid system, particularly via the delta opioid receptor, broadly regulates cutaneous mechanosensation, including touch, and suggests targeting this receptor could alleviate injury-induced mechanical hypersensitivity.
18 citations
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March 2006 in “Expert Review of Neurotherapeutics” This review outlines strategies for preventing, identifying, and managing complications related to current MS therapies and reports no new clinical results, emphasizing the growing complexity in MS treatment regimens.
9 citations
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March 2024 in “Journal of Biomaterials Applications” This study developed dissolving microneedles using specific polymers for transdermal delivery of rizatriptan benzoate, demonstrating improved drug skin penetration and significant alleviation of migraine symptoms in vivo compared to passive diffusion, suggesting potential advantages over conventional treatment methods for acute migraine.
3 citations
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October 2023 in “Journal of Pain” In this exploratory study of trigeminal neuralgia patients undergoing microvascular decompression surgery, differential protein expression in plasma and cerebrospinal fluid was observed between responders and non-responders, suggesting potential biomarkers to predict surgical success and providing insights into the mechanisms of pain relief.
4 citations
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January 2022 in “Yonsei Medical Journal” This article discusses the potential of novel microneedle transdermal systems for enhanced drug and vaccine delivery through the skin, but reports no clinical results and emphasizes ongoing trials.
This study identified the TALE homeodomain transcription factor Meis2 as a crucial regulator for the maturation and end-organ innervation of certain mechanoreceptors in mice, with its absence leading to altered sensory neuron structure and impaired touch sensitivity.
October 2021 in “Journal of Investigative Dermatology” In this research, investigators used in vitro models to study the Merkel cell-neurite complex and reported that mechanical stimulation, similar to gentle touch, can induce molecular changes that are potentially relevant to hair growth, thus contributing to the understanding of its underlying mechanisms.
December 2024 in “Pediatrics in Review” This case report concluded that undiagnosed Menkes disease, an X-linked disorder causing copper deficiency, contributed to a 7-month-old's illness and death, complicating his presentation with viral septic shock and methamphetamine exposure.
7 citations
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January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
5 citations
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January 1998 in “Clinical and experimental dermatology” This article discusses the late presentation of myotonic dystrophy but reports no new clinical findings.
This study found that Dex-loaded hyaluronic acid hydrogel microneedles significantly reduced pain in an acute inflammatory visceral pain model without sedation, suggesting a promising and patient-friendly alternative to intravenous delivery.
April 2024 in “AAPS PharmSciTech” New microneedle method improves hair regrowth treatment delivery.
April 2015 in “The FASEB Journal” In this study, NM exposure in mouse skin disrupted pilosebaceous units, initially decreasing markers of sebum production and cellular division, but showed signs of healing and marker recovery by day five.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” This research highlights the potential of non-coding RNAs as biomarkers and therapeutic targets in dermatology, while experimental studies on a unique GVM case suggest CCM2L may modulate disease severity, advancing understanding of genetic mechanisms in rare skin disorders.
This study found that the transcription factor Meis2 is crucial for the maturation and innervation of sensory neurons responsible for light touch in mice, with its absence leading to reduced touch sensitivity.
4 citations
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February 2022 in “International Journal of Molecular Sciences” This review discusses the similarities between myotonic dystrophy and aging, highlighting the role of cellular senescence in its pathophysiology, and reports no new clinical findings; the authors note potential anti-aging therapy applications.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this case study, a 26-year-old female with PLEC mutations and features of muscular dystrophy and myasthenia gravis showed significant improvement in symptoms following steroid treatment.
March 2026 in “Nutrients” This study found that hair manganese levels did not vary by acute coronary syndrome or stable coronary artery disease severity, but a modest, non-significant correlation with body mass index suggests a potential link between manganese homeostasis and cardiometabolic status that warrants further investigation.
20 citations
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October 2023 in “Small” This study discusses the expanding use of microneedles beyond transdermal drug delivery, highlighting recent advancements for treating hair loss, eye diseases, and oral disorders, while emphasizing future challenges in generalizing this technology.
91 citations
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August 2024 in “Acta Pharmaceutica Sinica B” This review explores how microneedles can improve the delivery of dermatological treatments by bypassing the skin's outer barrier, discussing their potential use in managing skin diseases, cosmetic applications, and challenges related to clinical adoption.
April 2016 in “Plastic and reconstructive surgery. Global open” This abstract catalogs resources from the American Society of Plastic Surgeons but presents no research findings.
June 2023 in “International Journal of Research in Medical Sciences” This case report describes the first confirmed instances of X-linked adrenomyeloneuropathy/adrenoleukodystrophy in two brothers from Bangladesh, noting their progressive neurological symptoms, MRI findings, and differing disease outcomes over several years of observation.
6 citations
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July 2005 in “Acta Ophthalmologica Scandinavica” This case report suggests that madarosis, or eyelash loss, may be associated with mitochondriopathy, expanding the known causes of madarosis to include this condition.
48 citations
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June 2014 in “Neurobiology of Disease” This study found that stem cells derived from spinal and bulbar muscular atrophy patients exhibited reduced androgen receptor levels and HDAC6, providing potential insights into the disease mechanism for future therapies.
This study found that scalp care using micro-needle therapy was effective in improving hair density and thickness in middle-aged women with menopausal symptoms compared to a control group.
35 citations
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July 2022 in “Frontiers in Integrative Neuroscience” This review discusses the neuroprotective potential of formononetin, especially for neurological diseases, and reports no clinical results; the authors suggest its promise for developing central nervous system drugs.
4 citations
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January 2022 in “Current pharmaceutical design” This review discusses the benefits and applications of microsponges delivery systems in drug delivery, particularly for topical treatments, and reports no new clinical findings.