9 citations
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June 2025 in “Frontiers in Pharmacology” This review highlights recent advancements in microneedle technology, noting its ability to enhance transdermal drug delivery, biosensing, cancer treatment, and skin disease repair, while emphasizing its potential for improving patient compliance and reducing side effects.
1 citations
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December 2016 in “Revista română de medicină de laborator” This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.
1 citations
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January 2023 in “Chemical Engineering Journal” 5 citations
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January 2011 in “Archives de Pédiatrie” This study illustrates the severe neonatal clinical presentation of Netherton syndrome, which can be fatal despite intensive care, highlighting a specific homozygous mutation (c.1431-12G > A) associated with lethal cases.
September 2025 in “Cureus” In this case report, the researchers documented a rare instance of plica neuropathica, characterized by matted and twisted hair, occurring alongside diffuse alopecia, marking the first such documented association and emphasizing its diagnostic challenges in identifying causes of alopecia.
July 2026 in “Journal of the American Academy of Dermatology”
This review examines the potential of Parquetina nigrescens for managing Polyendocrine Metabolic Ovarian Syndrome, emphasizing its pharmacological activities and highlighting its promise as an affordable complementary therapy.
January 2002 in “대한피부과학회지” This study analyzed clinical manifestations in 18 dermatomyositis patients, noting that all exhibited skin rash and variable symptoms like itching and muscle weakness, with treatment involving prednisolone and hydroxychloroquine.
1 citations
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September 2022 in “Canadian Journal of Ophthalmology” This study presents cases of paraproteinemic keratopathy associated with multiple myeloma and MGUS, highlighting varied treatment responses and the need for long-term follow-up to better understand disease progression and management.
September 2025 in “American Journal of Dermatopathology” In this research, most cases of mammary and extramammary Paget disease were reported to express PRAME, expanding the understanding of its presence in cutaneous epithelial tumors, though its diagnostic utility is limited by overlap with other conditions.
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.
2 citations
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January 2012 in “PubMed” This study found that mycophenolate mofetil is effective for both induction and maintenance therapy in children with severe lupus nephritis, significantly improving proteinuria and antibody levels, without renal flares during maintenance.
August 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This preclinical study found that a machine-learning-driven strategy for fabricating microneedles with optimal hardness and rapid dissolution significantly promoted hair regrowth in androgenetic alopecia mice by activating the Wnt/β-catenin pathway, surpassing the effects of minoxidil.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
8 citations
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September 2011 in “Scanning” This study found that multiphoton microscopy effectively visualizes the microstructure of in vivo mouse skin, offering a clear view of various skin layers and components like corneocytes and collagen fibers.
February 2024 in “Journal of Investigative Dermatology” In this study, the deletion of NIPP1 in keratinocytes led to chronic skin inflammation and epidermal changes in mice, with early cell-cycle arrest and premature senescence observed, potentially contributing to reduced mutagen sensitivity.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” This report details two patients with Hutchinson-Gilford Progeria syndrome who exhibited generalized shiny skin in infancy and had a novel mutation in the LMNA gene.
March 2024 in “Cancer Research” This study found that eliminating senescent cells using senolytic drugs effectively prevented and reversed paclitaxel-induced peripheral neuropathy in mice.
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.
39 citations
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January 2019 in “Cells” This review discusses the molecular mechanisms of Hutchinson-Gilford progeria syndrome and evaluates current research trends, available mouse models, and prospects for developing therapies, but reports no new clinical findings.
13 citations
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June 2012 in “European journal of medical genetics” In this study, researchers observed monochorionic diamniotic twins with discordant clinical phenotypes, where one had high-grade trisomy 12p mosaicism in certain tissues, while the other showed confined mosaicism likely due to twin-to-twin transfusion.
October 2025 in “Journal of the Endocrine Society” This case report documented the management of a 46-year-old female with Marine-Lenhart syndrome, combining antithyroids with minimally invasive sclerotherapy to achieve euthyroidism and reduce thyroid nodule size by 58%.
1 citations
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September 2011 in “Journal of the American Geriatrics Society” This article presents a case of Werner syndrome complicated by idiopathic membranous nephropathy, suggesting a possible but unproven genetic link between the two conditions.
35 citations
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February 2012 in “The New England Journal of Medicine” Early diagnosis and treatment of TPP can prevent complications.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
5 citations
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June 2024 in “Pharmacological Research” This study identified neuropilin-1 as the receptor for FOL-026 and showed that it stimulates angiogenesis and cell growth, suggesting potential for vascular repair and enhanced angiogenesis therapies.
January 2026 in “JCEM Case Reports” This case report presents a rare instance of recurrent ACTH-independent Cushing’s syndrome due to PBMAH, coinciding with the development of a pheochromocytoma, highlighting the need for thorough reevaluation in similar recurring cases.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
July 2024 in “Journal of Investigative Dermatology” Certain substances can help skin cells become anti-inflammatory, aiding in tissue repair.
September 2024 in “Dermatologica Sinica” This study reported a rare case of pityriasis rubra pilaris-like skin reaction in an 18-year-old woman after starting ponatinib treatment for relapsed Philadelphia chromosome-positive acute lymphoblastic leukemia, which resolved after treatment adjustment and did not recur over 15 months.