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A Possible Phenotype-to-Genotype Association of Novel Single-Nucleotide Variants in the Coding Exons of the Gene to Arterial Aneurysmal and Dissection Diseases.
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Sathyamoorthy Laboratory, Department of Medicine, Burnett School of Medicine at TCU, Fort Worth, TX 76104, USA.
After reporting the first known clinical case associating compound heterozygous single-nucleotide variants in Exon 2 of to aortic aneurysmal and iliac dissection, we began prospective surveillance in our vascular genetic practice for similar cases. Herein, we present nine (9) subjects from a total cohort of 135 with arterial aneurysms or dissections who revealed single-nucleotide variants in with no other alterations in a panel of 35 genes associated with aneurysmal and dissection disorders. Five out of nine (5/9) single-nucleotide variants were in Exon 1, and four out of nine (4/9) mutations were in Exon 2, both of which are principal coding exons for this gene.
View Article and Find Full Text PDFDevelopment of Biomimetic Substrates for Limbal Epithelial Stem Cells Using Collagen-Based Films, Hyaluronic Acid, Immortalized Cells, and Macromolecular Crowding.
Life (Basel)
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Regenerative, Modular & Developmental Engineering Laboratory (REMODEL) and Science Foundation Ireland (SFI) Centre for Research in Medical Devices (CÚRAM), Biomedical Sciences Building, University of Galway, H91 TK33 Galway, Ireland.
Despite the promising potential of cell-based therapies developed using tissue engineering techniques to treat a wide range of diseases, including limbal stem cell deficiency (LSCD), which leads to corneal blindness, their commercialization remains constrained. This is primarily attributable to the limited cell sources, the use of non-standardizable, unscalable, and unsustainable techniques, and the extended manufacturing processes required to produce transplantable tissue-like surrogates. Herein, we present the first demonstration of the potential of a novel approach combining collagen films (CF), hyaluronic acid (HA), human telomerase-immortalized limbal epithelial stem cells (T-LESCs), and macromolecular crowding (MMC) to develop innovative biomimetic substrates for limbal epithelial stem cells (LESCs).
View Article and Find Full Text PDFCost-Effectiveness of Corneal Collagen Crosslinking for Progressive Keratoconus: A Brazilian Unified Health System Perspective.
Int J Environ Res Public Health
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Division of Ophthalmology, School of Medicine, University of São Paulo, São Paulo 01246-903, SP, Brazil.
Keratoconus is a burden to health systems and patients worldwide. Corneal collagen crosslinking (CXL) treatment has been shown abroad to be cost-effective for treating progressive keratoconus. However, no cost-effectiveness studies have been performed in Brazil.
View Article and Find Full Text PDFBiomaterials for Corneal Regeneration.
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MOE Key Laboratory of Macromolecular Synthesis and Functionalization, Department of Polymer Science and Engineering, Zhejiang University, Hangzhou, Zhejiang, 310058, China.
Corneal blindness is a significant reason for visual impairment globally. Researchers have been investigating several methods for corneal regeneration in order to cure these patients. Biomaterials are favored due to their biocompatibility and capacity to promote cell adhesion.
View Article and Find Full Text PDFInhibition of pterygium cell fibrosis by the Rho kinase inhibitor.
Sci Rep
December 2024
Eugene and Marilyn Glick Eye Institute, Indiana University School of Medicine, RM305v, 1160 W. Michigan St., Indianapolis, IN, 46202, USA.
Pterygium is an ocular disease in which the conjunctival tissue invades the cornea. When the pterygium tissue reaches the pupillary region, the visual function of the patient is affected. Currently, surgical removal is the only effective treatment.
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