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http://dx.doi.org/10.1148/radiol.231151 | DOI Listing |
Front Cell Dev Biol
January 2025
Department of Physics, Faculty of Sciences, FAU Erlangen-Nuremberg, Erlangen, Germany.
The glycocalyx is a dense and dynamic layer of glycosylated species that covers every cell in the human body. It plays crucial roles in various cellular processes in health and disease, such as cancer immune evasion, cancer immune therapy, blastocyst implantation, and functional attenuation of membrane protein diffusion. In addition, alterations in glycocalyx structure may play an important role in ocular surface diseases, e.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA.
: Disruption of results in microphthalmia with linear skin lesions (MLS) characterized by microphthalmia/anophthalmia, corneal opacity, aplastic skin lesions, variable central nervous system and cardiac anomalies, intellectual disability, and poor growth in heterozygous females. Structural variants consisting of chromosomal rearrangements or deletions are the most common variant type, but a small number of intragenic variants have been reported. : Exome sequencing identified variants affecting .
View Article and Find Full Text PDFPostepy Dermatol Alergol
October 2024
Martin's Biopsy Center, Ltd., Martin, Slovakia.
Curr Biol
December 2024
Department of Neuroscience, Brown University, Meeting Street, Providence, RI 02906, USA; Robert J. and Nancy D. Carney Institute for Brain Sciences, Brown University, Angell Street, Providence, RI 02906, USA. Electronic address:
Visual simulation-i.e., using internal reconstructions of the world to experience potential future versions of events that are not currently happening-is among the most sophisticated capacities of the human mind.
View Article and Find Full Text PDFProg Retin Eye Res
September 2024
Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA; Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA. Electronic address:
Development of the anterior segment of the eye requires reciprocal sequential interactions between the arising tissues, facilitated by numerous genetic factors. Disruption of any of these processes results in congenital anomalies in the affected tissue(s) leading to anterior segment disorders (ASD) including aniridia, Axenfeld-Rieger anomaly, congenital corneal opacities (Peters anomaly, cornea plana, congenital primary aphakia), and primary congenital glaucoma. Current understanding of the genetic factors involved in ASD remains incomplete, with approximately 50% overall receiving a genetic diagnosis.
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