1 citations
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August 2023 in “Advanced Drug Delivery Reviews” This review discusses various microneedle technologies for long-acting drug delivery, highlighting design considerations and challenges in bringing these minimally invasive devices to market, but it reports no new clinical results.
June 2025 in “International Journal of Molecular Sciences” This review compiles current research on the role of long non-coding RNAs in regulating muscle growth and regeneration processes, particularly their influence on Duchenne muscular dystrophy, and reports no new clinical results.
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.
This study reports that patients with specific MFN2 mutations, including p.Arg707Trp, exhibit significant upper body fat overgrowth with suppressed leptin production, suggesting tissue-selective mitochondrial dysfunction and potential therapeutic targets.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development.
October 2025 in “Pharmaceutics” This study highlights the clinical potential of microneedles as an innovative transdermal drug delivery system for treating various skin diseases with minimal pain and high patient compliance.
21 citations
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October 2025 in “Advanced Materials” This study found that a newly created biomimetic microneedle platform effectively expedited wound repair in diabetic animal models by reducing inflammation, enhancing angiogenesis, and promoting skin regeneration through targeted drug delivery and immune response modification.
6 citations
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January 2016 in “Bioorganic & Medicinal Chemistry Letters” This study reported that certain minoxidil conjugates, specifically those with spermine, methylenedianiline, and diaminofluorene, were able to induce differentiation in HL-60 acute myeloid leukemia cells without toxicity at a concentration of 10 μM.
This study suggests that specific mutations in the MFN2 gene, including the p.Arg707Trp allele, can result in tissue-selective mitochondrial dysfunction leading to excessive upper body fat growth and low leptin levels.
19 citations
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December 2021 in “Stem Cell Research & Therapy” This study found that Muse cells, when injected subcutaneously, alleviated symptoms of atopic dermatitis in mice, suggesting potential for treating inflammatory skin conditions.
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.
17 citations
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July 2017 in “Molecular and Cellular Endocrinology” The authors reviewed the mechanisms behind Kennedy's disease, noting advances in therapeutic strategies such as androgen deprivation and gene silencing that may soon expand treatment options for this incurable neuromuscular condition.
July 2024 in “Journal of Investigative Dermatology” Certain substances can help skin cells become anti-inflammatory, aiding in tissue repair.
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.
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.
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.
15 citations
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April 2007 in “Journal of child neurology” This case report describes an 11-month-old boy with Menkes disease, highlighting symptoms such as developmental delays and poor therapeutic response due to significant brain and vascular abnormalities.
10 citations
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September 2024 in “Neural Regeneration Research” This study found that using induced pluripotent stem cell-derived mesenchymal stem cells with acellular nerve allografts significantly improved axon regeneration and functional recovery in rats with sciatic nerve injuries, suggesting a promising approach for clinical nerve repair therapies.
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.
5 citations
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June 2020 in “Medicine” This report discusses a 22-year-old patient with MELAS syndrome carrying the m.10158T>C mutation, and highlights the need for extensive genetic testing when initial hot-spot mutation tests are negative.
5 citations
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January 2016 in “Open Journal of Regenerative Medicine” This article describes the potential applications of myoblast implantation for muscle regeneration and its promising social and economic value but reports no new clinical results.
1 citations
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October 2023 in “Heliyon” In this study, the researchers reported a new case of Hutchinson-Gilford progeria syndrome with a novel LMNA mutation and successful surgical intervention for airway obstruction.
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.
3 citations
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November 2024 in “Electrochimica Acta” A new, quick method accurately detects minoxidil in drugs and cosmetics.
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.
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.
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.
January 2025 in “Genetics in Medicine Open” This case report highlights a 33-year-old male initially misdiagnosed with Neuromyelitis Optica, whose symptoms may improve with biotin treatment due to late onset biotinidase deficiency.
7 citations
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September 2011 in “International Journal of Dermatology” This study investigated demographic and clinical characteristics of twenty-nail dystrophy in Korea, identifying differences in subtype and gender predominance between children and adults.
October 2025 in “Plastic & Reconstructive Surgery” This study evaluated the safety and effectiveness of MNC-QQ cell therapy in five men with androgenic alopecia, reporting no adverse effects and improvements in hair growth, hair density, and quality of life over six months.