February 2026 in “Pediatrics in Review” This case report describes an infant with congenital hyperinsulinism linked to a genetic mutation in the ABCC8 gene, illustrating challenges in managing persistent hypoglycemia despite medical interventions, leading to a near-total pancreatectomy.
1 citations
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January 2023 in “Frontiers in genetics” This study identified specific genetic markers related to wool quality in Rambouillet sheep, which may aid breeders in making informed selection and breeding decisions for improved fine wool production.
5 citations
,
May 2020 in “Wiley Interdisciplinary Reviews Developmental Biology” This article reviews the mechanisms controlling long bone growth and suggests that new research approaches are needed to explore the role of extrinsic signals and tissue interactions.
23 citations
,
December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
16 citations
,
March 2015 in “Clinical Cancer Research” This review discusses the mechanism and side effects of smoothened inhibitors for advanced basal cell carcinoma, reporting no new clinical results and highlighting current management strategies for these adverse events.
7 citations
,
May 2010 in “British Journal of Dermatology” Women treated with X-ray for scalp fungus as children had a higher chance of hair loss, especially with higher radiation doses and severe fungus infections.
1 citations
,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” This study developed a new method to analyze Cantú syndrome mutations in KATP channels, finding that while Kir6.1 mutations increase sensitivity to potassium channel openers, SUR2B mutations show reduced sensitivity, but both result in marked hyperpolarization compared to wild-type channels under basal conditions.
99 citations
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March 2013 in “Journal of Investigative Dermatology” This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.
14 citations
,
March 2015 in “Stem Cell Research & Therapy” This study indicates that ABCG2 expression identifies interfollicular keratinocyte progenitor cells in human epidermis and suggests it could help enrich these stem cells for research and treatment.
144 citations
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March 2013 in “Circulation Research” This study reports that mutations in the SUR2 gene are linked to Cantu syndrome, highlighting the role of KATP channels in cardiovascular health and potential new therapies.
138 citations
,
November 2015 in “Journal of Pharmacology and Experimental Therapeutics” This review discusses the mechanisms associated with protoporphyrin IX in living cells and reports no clinical results; the authors emphasize its potential in cancer diagnosis and the risks of toxicity.
25 citations
,
July 2019 in “Experimental Dermatology” This review discusses the role of cholesterol homeostasis in hair follicle biology and its potential connections to various hair disorders, but it reports no new findings.
15 citations
,
January 2019 in “Mediators of inflammation” This study concluded that Aloe vera fermentation significantly accelerates burn injury healing in rats by reducing inflammation and altering gut microbiota composition.
10 citations
,
March 2015 in “Journal of dermatology” This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
5 citations
,
September 2022 in “Molecular pharmacology” This article reviews current knowledge on KATP channel drug binding modes through cryogenic electron microscopy, highlighting distinct binding sites in the sulfonylurea receptor and potential mechanisms of drug action, but reports no new experimental results.
1 citations
,
January 2009 in “Trepo - Institutional Repository of Tampere University” This study found that vitamin D regulates cholesterol metabolism and may influence prostate cancer development through mechanisms affecting prostate cell growth and sex hormone metabolism.
March 2025 in “OncoTargets and Therapy” This study found that in circulating tumor cells from non-invasive liquid biopsies, the GG genotype of the CYP3A5 A6986G affects longer disease-free survival in DLBCL patients, highlighting the significance of circulating biomarkers for prognostic evaluation.
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.
May 2021 in “Histochemistry and Cell Biology” This article highlights studies on cholesterol transporter proteins in hair cycles, epithelial-to-mesenchymal transition in cancer, ovarian hormone effects on cell polarity before implantation, and UV effects on rodent skin, without providing new clinical results.
December 2015 in “Vascular Pharmacology” Different cells affect hair follicle blood vessels, endothelial cells react differently to inflammation and oxidized fats, and prasugrel better protects heart vessels during a procedure than clopidogrel.
December 2015 in “Vascular Pharmacology” Prasugrel is better than clopidogrel at preventing heart damage and improving blood flow in small heart vessels during heart artery procedures.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the researchers observed significant metabolic dysregulation in central centrifugal cicatricial alopecia, particularly involving lipid metabolism and the downregulation of AMPK-related genes.
125 citations
,
May 2019 in “Phytomedicine” This review discusses the historical development, mechanisms of action, and potential new clinical applications of the drug cepharanthine, highlighting its multi-faceted pharmacological properties; it reports no new clinical results.
87 citations
,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” This paper discusses X-linked ichthyosis and its genetic causes, focusing on biochemical pathways and their role in epidermal differentiation and barrier function, but it presents no new clinical findings.
70 citations
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July 2020 in “Pharmacological Reports” This review discusses the antiviral potential of cepharanthine against SARS-CoV-2, noting its effectiveness in preclinical models but presenting no new clinical results.
58 citations
,
October 2016 in “Journal of Investigative Dermatology” This study found that activating Nrf2 in human hair follicles significantly reduced oxidative stress, lipid peroxidation, and protected against hair growth inhibition, suggesting a protective role for Nrf2 against redox insult in this context.
38 citations
,
December 2012 in “Journal of Cutaneous Pathology” This review discusses the significance of elastic tissue staining in dermatopathology, particularly for diagnosing primary elastic tissue disorders and other skin conditions, but reports no new clinical results.
30 citations
,
July 2017 in “BioEssays” This review discusses the potential benefits of activating NRF2 for treating hair follicle disorders linked to oxidative stress and reports no new clinical results.
27 citations
,
March 2024 in “Frontiers in Pharmacology” This review highlights the potential of natural product-derived compounds, such as flavonoids and alkaloids, to reverse multidrug resistance in tumors, emphasizing their role in regulating signaling pathways, proteins, and genes related to MDR, and aims to guide future research efforts in this area.