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Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an Modifier Variant.
Int J Mol Sci
January 2024
Department of Optometry and Vision Science, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Modern advances in disease genetics have uncovered numerous modifier genes that play a role in the severity of disease expression. One such class of genetic conditions is known as inherited retinal degenerations (IRDs), a collection of retinal degenerative disorders caused by mutations in over 300 genes. A single missense mutation (K42E) in the gene encoding the enzyme dehydrodolichyl diphosphate synthase (DHDDS), which is required for protein N-glycosylation in all cells and tissues, causes -IRD (retinitis pigmentosa type 59 (RP59; OMIM #613861)).
View Article and Find Full Text PDFDisruption of H3K36 methylation provokes cellular plasticity to drive aberrant glandular formation and squamous carcinogenesis.
Dev Cell
January 2024
Department of Dermatology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; Penn Epigenetics Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Abramson Cancer Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Penn Institute for Regenerative Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA. Electronic address:
Article Synopsis
- Chromatin organization is crucial for proper cell differentiation and development, and disruptions in methylation of histone H3 at lysine 36 (H3K36) lead to abnormal changes in epithelial cells.
- Loss of H3K36 methylation results in increased plasticity and the formation of excessive glandular tissues, such as enlarged salivary and sebaceous glands, as well as a higher risk of squamous tumors.
- These findings indicate that H3K36 methylation plays a significant role in determining epithelial cell fates and preventing cancer, suggesting potential therapeutic strategies for disorders related to glandular function.
BULLOUS VARIANT OF CENTRAL SEROUS CHORIORETINOPATHY IN GOODPASTURE DISEASE: A CASE REPORT AND REVIEW OF LITERATURE.
Retin Cases Brief Rep
January 2025
Department of Ophthalmology, Perelman School of Medicine, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania.
Purpose: The aim of this study was to describe a case of bullous variant of central serous chorioretinopathy (CSR) in Goodpasture disease (GD) compared with an identical twin without GD and summarize the literature on ocular manifestations of GD.
Methods: This was an interventional/observational case report and literature review.
Results: A 46-year-old White woman with a history of GD presented with decreased vision.
OUTER RETINOPATHY AND MICROANGIOPATHY IN ACUTE MYELOGENOUS LEUKEMIA.
Retin Cases Brief Rep
November 2023
Department of Ophthalmology, Perelman School of Medicine, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania; and.
Purpose: To describe a patient with acute myelogenous leukemia who presented with a recurrent, bilateral, outer retinopathy, before and after consolidative peripheral blood stem cell transplantation complicated by chronic graft-versus-host disease.
Methods: This is a retrospective review of records from a 23-year-old woman with acute myelogenous leukemia who underwent comprehensive ophthalmic evaluations for over a year including chromatic perimetry and multifocal electroretinograms, imaging with spectral domain optical coherence tomography, near-infrared and short-wavelength fundus reflectance and autofluorescence, fluorescein and optical coherence tomography angiography.
Results: The patient presented with recurrent, unilateral paracentral scotomas.
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