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.
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.
4 citations
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December 2024 in “European Journal of Medicinal Chemistry” This study reported the development of new pyrazole-based MPC inhibitors that effectively inhibit mitochondrial pyruvate transport, showing potential as therapeutic candidates for conditions like metabolic dysfunction-associated steatohepatitis without activating PPARγ.
80 citations
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April 2017 in “Frontiers in Pharmacology” This review examines experimental and clinical evidence on PDRN, a drug derived from salmon DNA that acts via the adenosine A2A receptor and shows promise for tissue repair and treatment of diabetic foot ulcers in regenerative medicine.
16 citations
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March 2015 in “Clinical and experimental dermatology” This study found that mycophenolic acid promotes dermal papilla cell proliferation and anagen hair follicle induction in mice, suggesting potential as a treatment for hair-loss disorders.
January 1990 in “Advances in behavioral biology”
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, mice lacking the Mcpip1 gene in their myeloid cells did not develop SCC-like tumors but instead showed increased melanocyte activity and hair loss, indicating a distinct role for myeloid Mcpip1 in skin cancer development compared to keratinocyte Mcpip1.
16 citations
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November 2024 in “Human Genetics and Genomics Advances” This study identified 24 independent genetic variations and 127 unique genes associated with nociplastic pain, suggesting it is a complex, heritable trait with links to various cognitive and metabolic pathways.
29 citations
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July 2008 in “British Journal of Dermatology” This case report examines a patient with myasthenia gravis, invasive thymoma, and paraneoplastic pemphigus associated with alopecia areata, notably without the usual mucosal involvement.
This study found that mutations in the TMPRSS6 gene affect the ability of matriptase-2 to inhibit hepcidin, which may impact the molecular pathogenesis of iron-refractory iron-deficiency anemia.
66 citations
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November 1997 in “Nutrition” This study found that while micronutrient abnormalities are common among patients receiving home parenteral nutrition, serious consequences from these abnormalities are rare.
April 2023 in “Journal of Investigative Dermatology” This study suggests that MPZL3, a mitochondrially localized protein, may play an integral role in regulating hair follicle cycles, with potential therapeutic implications for hair growth disorders if findings translate to humans.
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.
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.
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.
324 citations
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May 2002 in “Oncogene”
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.
February 2024 in “Molecules/Molecules online/Molecules annual” In this study, NMN was found to reverse hair follicle atrophy, thinning, and sparsity in mice induced by DHT, and significantly decreased DHT-induced inflammation and oxidative stress in cultured human dermal papilla cells, enhancing hair growth-related markers.
2 citations
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May 2022 in “Advanced therapeutics” This study reported that a novel vasodilator drug called TOP-M119, when delivered using a specially designed dissolving microneedle system, showed enhanced targeting of hair follicles and effectiveness in treating alopecia, demonstrated through in vitro, ex vivo, and in vivo studies involving mouse skin.
4 citations
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September 2020 in “Cell division” In this study, XMU-MP-1 unexpectedly reduced cell proliferation and altered cell cycle progression in a model human hair follicle, possibly due to off-target kinase inhibition.
February 2023 in “Medicine in novel technology and devices” This study found that microneedle delivery of Polygonum multiflorum extract led to earlier pigmentation and hair regrowth in mice with androgenetic alopecia.
April 2026 in “Expert Opinion on Biological Therapy” This review discusses prurigo nodularis and reports no new results, emphasizing the need for further research into its pathophysiology and treatment options.
26 citations
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June 2020 in “Polymers” This study reported that a magneto-responsive transdermal microneedle system delivered Minoxidil effectively and significantly increased hair density by 800% in mice with androgenetic alopecia after 10 days.
This pilot study employed in-vivo multiphoton microscopy to visualize pigment-producing melanocytes in vitiligo patients, aiming to enhance understanding of treatment impacts and potentially improve transplantation therapies.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
1 citations
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September 2013 in “The Journal of Dermatology” An 8-year-old girl developed a rare skin condition in a linear pattern on one side of her body after a lung infection, which improved with treatment.
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.
October 2022 in “Amplla Editora eBooks”
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This case study reports that a 26-year-old woman with epidermolysis bullosa prurogompsa also presented with unique findings of co-existing muscular dystrophy and immune-based myasthenia gravis, with significant improvement 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.