39 citations
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February 2024 in “Small” This review discusses the evolution and development of smart and multifunctional microneedles, highlighting their potential future importance in medical applications, but it reports no new experimental results.
53 citations
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January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
3 citations
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October 2013 in “International Journal of Rheumatic Diseases” This case report found that a patient with cutaneous polyarteritis nodosa experienced rare and severe manifestations, including digital gangrene and a breast ulcer, requiring aggressive treatment and resulting in below-knee amputation.
3 citations
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July 2024 in “Annals of Biomedical Engineering” This study found that multiphoton microscopy imaging allows for detailed observation and quantitative analysis of collagen alterations in the progression of endometrial cancer, potentially offering a faster, more accurate method for early diagnosis compared to current protocols.
10 citations
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November 2009 in “Pigment cell & melanoma research” This study by Pérez-Oliva et al. explored how Mahogunin Ring Finger-1 (MGRN1) affects melanocortin-1 receptor (MC1R) signaling, suggesting that MGRN1 competitively inhibits Gαs binding to MC1R, influencing pigment production.
January 2026 in “Indian Journal of Paediatric Dermatology” This case report describes a rare co-existence of Becker nevus and plexiform neurofibroma in a child with genetically confirmed neurofibromatosis type 1, offering insights into the potential cellular and molecular links between these lesions.
3 citations
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March 2012 in “Actas Dermo-Sifiliográficas” An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
July 2023 in “Clinical, cosmetic and investigational dermatology” This case report described a 32-year-old woman with plica neuropathica who was diagnosed with schizophrenia after initially seeking dermatological care for her severely matted hair, illustrating a rare presentation of schizophrenia and the importance of considering psychiatric conditions in such cases.
2 citations
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January 2008 in “Journal of Society of Cosmetic Chemists of Japan” PMS nanoparticles improve damaged hair by protecting and restoring its surface and color.
14 citations
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February 2014 in “Nutrition in Clinical Practice” This A.S.P.E.N. document offers guidance for managing parenteral nutrition shortages, emphasizing alternative routes and careful allocation to prevent deficiencies.
33 citations
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May 2017 in “Journal of Clinical Oncology” This phase I study reported that ETC-159, targeting Wnt signalling, showed tolerable safety profiles at doses that inhibit its pathway, though bone turnover markers increased, warranting early and regular monitoring. No tumor responses were observed, but two patients achieved stable disease for several cycles.
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.
133 citations
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May 2016 in “Cell Host & Microbe” In this study, human dermal fibroblasts were identified as natural host cells that support productive Merkel cell polyomavirus infection, and the MEK antagonist trametinib was introduced as an effective inhibitor to control the virus.
4 citations
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November 2024 in “Journal of Advanced Research” In this study, the researchers reported that NMMHC IIA dissociates from PAR1 and activates the CREB3/ARF4 pathway, worsening thrombin-induced blood-brain barrier damage, suggesting it as a potential therapeutic target for blood-brain barrier-related diseases.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
June 2023 in “medRxiv (Cold Spring Harbor Laboratory)” This study found that nociplastic type pain is a complex and heritable trait, with significant genetic overlap with multisite chronic pain and some connection to rheumatoid arthritis and a neuropathic pain phenotype.
23 citations
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December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
In this thesis, researchers explored ways to enhance the management of myotonic dystrophy type 1 by investigating the genetic inheritance patterns, especially small-sized repeat expansions, and assessing cardiac care, energy expenditure, and body composition in affected individuals.
10 citations
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May 2007 in “British Journal of Dermatology” This case report describes the first known instance of congenital follicular mucinosis in a newborn, diagnosed through histopathological examination of a scalp lesion.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
1 citations
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March 2023 in “Journal of the American College of Cardiology”
7 citations
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May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
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.
Defective protein folding due to a mutation is key in ANE syndrome.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
11 citations
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September 2014 in “International Journal of Molecular Sciences” This study found that mycophenolate may stabilize β-catenin and counteract interferon-γ-induced catagen changes in human dermal papilla cells, which could promote hair growth.
19 citations
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February 2001 in “Journal of paediatrics and child health” This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.
1 citations
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January 2025 in “Regenerative Biomaterials” In this study, researchers found that exosomes derived from Pinctada martensii mucus can effectively inhibit melanin production in melanoma cells and zebrafish without adverse effects, potentially offering a promising therapeutic strategy for treating pigmentary disorders by modulating the NF-κB signaling pathway.
4 citations
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December 2014 in “Indian Journal of Dermatology” This case report documents a rare presentation of congenital milia en plaque on the scalp of a five-year-old boy, with blaschkoid extension to the nuchal area, highlighting its uncommon location and onset.
10 citations
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June 2021 in “Journal of Investigative Dermatology” GNPTAB gene is crucial for normal hair color in humans and mice.