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Retina-on-chip: engineering functional models of the human retina using organ-on-chip technology.
Lab Chip
January 2025
Applied Stem Cell Technologies Group, Department of Bioengineering Technologies, University of Twente, Enschede, The Netherlands.
The retina is a complex and highly metabolic tissue in the back of the eye essential for human vision. Retinal diseases can lead to loss of vision in early and late stages of life, significantly affecting patients' quality of life. Due to its accessibility for surgical interventions and its isolated nature, the retina is an attractive target for novel genetic therapies and stem cell-based regenerative medicine.
View Article and Find Full Text PDFTherapeutic Dilemma of a Juxtapapillary Retinal Capillary Hemangioma.
Cureus
December 2024
Department of Ophthalmology and Visual Science, Ophthalmology Clinic, Hospital Universiti Sains Malaysia, Universiti Sains Malaysia, Kubang Kerian, MYS.
A juxtapapillary retinal capillary hemangioma (JRCH) is a rare vascular hamartoma located on the optic nerve head or adjacent region. While often associated with von Hippel-Lindau (VHL) disease, JRCHs can also occur as an isolated condition, presenting unique therapeutic challenges and risks of visual impairment. We report a case of a 50-year-old Malay gentleman with diabetes mellitus who presented with a non-progressive superior visual field defect in his left eye for three months.
View Article and Find Full Text PDFCiliopathy-associated missense mutations in IFT140 are tolerated by the inherent resilience of the IFT machinery.
Mol Cell Proteomics
January 2025
Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Elfriede-Aulhorn-Strasse 7, 72076 Tübingen, Germany. Electronic address:
Genotype-phenotype correlations of rare diseases are complicated by low patient number, high phenotype variability and compound heterozygosity. Mutations may cause instability of single proteins, and affect protein complex formation or overall robustness of a specific process in a given cell. Ciliopathies offer an interesting case for studying genotype-phenotype correlations as they have a spectrum of severity and include diverse phenotypes depending on different mutations in the same protein.
View Article and Find Full Text PDFIntestinal Bacteroides drives glioma progression by regulating CD8+ T cell tumor infiltration.
Neuro Oncol
January 2025
Department of Neurology, Division of Infectious Diseases, Washington University School of Medicine, St. Louis MO 63110 USA.
Background: The intestinal microbiota regulates normal brain physiology and the pathogenesis of several neurological disorders. While prior studies suggested that this regulation operates through immune cells, the underlying mechanisms remain unclear. Leveraging two well characterized murine models of low-grade glioma (LGG) occurring in the setting of the neurofibromatosis type 1 (NF1) cancer predisposition syndrome, we sought to determine the impact of the gut microbiome on optic glioma progression.
View Article and Find Full Text PDFThe formation of condensed heterochromatin is critical for establishing cell-specific transcriptional programs. To reveal structural transitions underlying heterochromatin formation in maturing mouse rod photoreceptors, we apply cryo-EM tomography, AI-assisted deep denoising, and molecular modeling. We find that chromatin isolated from immature retina cells contains many closely apposed nucleosomes with extremely short or absent nucleosome linkers, which are inconsistent with the typical two-start zigzag chromatin folding.
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