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Role of Morphology in the Diagnosis of an Unsuspected Case of Chediak-Higashi Syndrome: A Case Report.
Cureus
December 2024
Department of Pathology, Ranga Raya Medical College, Kakinada, IND.
Chediak-Higashi syndrome (CHS) is a rare multisystem genetic disorder of childhood, caused by a defect in vesicular trafficking, which is an essential process for intracellular transport. This defect results in the formation of giant cytoplasmic granules in various cell types, including white blood cells, melanosomes, and Schwann cells. The presence of giant lysosomal granules in neutrophils and their precursors is a distinct and diagnostic feature of CHS, differentiating it from other childhood immunodeficiency disorders, such as Griscelli syndrome and Hermansky-Pudlak syndrome, which share common characteristics like albinism and increased susceptibility to fatal hemophagocytic lymphohistiocytosis.
View Article and Find Full Text PDFIntermediate filaments spatially organize intracellular nanostructures to produce the bright structural blue of ribbontail stingrays across ontogeny.
Front Cell Dev Biol
July 2024
Department of Infectious Diseases and Public Health, City University of Hong Kong, Kowloon, Hong Kong SAR, China.
In animals, pigments but also nanostructures determine skin coloration, and many shades are produced by combining both mechanisms. Recently, we discovered a new mechanism for blue coloration in the ribbontail stingray , a species with electric blue spots on its yellow-brown skin. Here, we characterize finescale differences in cell composition and architecture distinguishing blue from non-blue regions, the first description of elasmobranch chromatophores and the nanostructures responsible for the stingray's novel structural blue, contrasting with other known mechanisms for making nature's rarest color.
View Article and Find Full Text PDFDaily Light Onset and Plasma Membrane Tethers Regulate Mitochondria Redistribution within the Retinal Pigment Epithelium.
Cells
June 2024
UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
The retinal pigment epithelium (RPE) is an essential component of the retina that plays multiple roles required to support visual function. These include light onset- and circadian rhythm-dependent tasks, such as daily phagocytosis of photoreceptor outer segments. Mitochondria provide energy to the highly specialized and energy-dependent RPE.
View Article and Find Full Text PDFRBMS1 reflects a distinct microenvironment and promotes tumor progression in ocular melanoma.
Exp Eye Res
September 2024
Department of Ophthalmology, Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, 200011, PR China; Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, 200011, PR China. Electronic address:
Ocular melanoma, including uveal melanoma (UM) and conjunctival melanoma (CM), is the most common ocular cancer among adults with a high rate of recurrence and poor prognosis. Loss of epigenetic homeostasis disturbed gene expression patterns, resulting in oncogenesis. Herein, we comprehensively analyzed the DNA methylation, transcriptome profiles, and corresponding clinical information of UM patients through multiple machine-learning algorithms, finding that a methylation-driven gene RBMS1 was correlated with poor clinical outcomes of UM patients.
View Article and Find Full Text PDFGenomic analysis links the American mink Royal pastel coat phenotype to retroviral element type 1 insertion in the HPS3 gene.
Anim Genet
October 2024
Department of Genetics, Centre for Genetics and Life Science, Sirius University of Science and Technology, Sochi, Russia.
To date, only 10 of the more than 30 fur colours that had been observed in American mink (Neogale vison) have been linked to specific genes. The Royal pastel fur colour is part of a large family of brownish colours that are quite similar to one another, making breeding and selecting processes more difficult. Here we carried out whole-genome sequencing of five American minks with Royal pastel (b/b) phenotypes originating from two distinct mink populations.
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