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Antioxidant MitoQ increases viability of human corneal endothelial cells with congenital hereditary endothelial dystrophy-associated mutations.
Ophthalmic Genet
January 2025
Department of Ophthalmology, Stein Eye Institute at UCLA, Los Angeles, California, USA.
Purpose: To assess the impact of MitoQ, a mitochondria-targeted antioxidant, on viability of human corneal endothelial cell (hCEnC) lines expressing mutations associated with congenital hereditary endothelial dystrophy (CHED) and Fuchs endothelial corneal dystrophy type 4 (FECD4).
Methods: wildtype () and mutant () hCEnC lines were created to express either variant 2 (V2) or variant 3 (V3) by stable transduction of hCEnC-21T with lentiviruses containing either or one of the following mutations: V2 (V3) mutants c.374 G>A (c.
Metformin-induced mitophagy suppresses auditory hair cell apoptosis via AMPK pathway.
Brain Res Bull
January 2025
Department of Otolaryngology, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang Province, China. Electronic address:
Hearing loss is a pervasive issue affecting numerous individuals, and its etiology and categorization are multifaceted. Among these, sensorineural hearing loss (SNHL) emerges as the most prevalent variant among these. The primary causative factor underlying SNHL resides in the depletion of auditory hair cells within the cochlea, yet the pursuit of efficacious therapeutic interventions remains an ongoing challenge.
View Article and Find Full Text PDFRe-evaluation of Cyclic Peptide Binding to Neurotensin Receptor 1 by Shifting the Peptide Register during Synthesis.
ACS Med Chem Lett
January 2025
Medicinal Chemistry, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria 3052, Australia.
The head-to-tail cyclic peptide [Arg-Lys-Pro-Tyr-Tle-Leu] (peptide , where Tle is l--Leu) has previously been reported to bind to neurotensin receptor 1 (NTS1) (pKi = 5.97). Upon seeking to reproduce this finding, we found that peptide did not have a measurable affinity for NTS1.
View Article and Find Full Text PDFGenetic regulation of splicing contributes to reduced or elevated cancer risk by altering cellular longevity and replicative potential.
medRxiv
November 2024
Laboratory of Translational Genomics, DCEG, National Cancer Institute, Rockville, MD, USA.
The chromosome 5p15.33 region, which encodes telomerase reverse transcriptase (TERT), harbors multiple germline variants identified by genome-wide association studies (GWAS) as risk for some cancers but protective for others. We characterized a variable number tandem repeat within intron 6 (VNTR6-1, 38-bp repeat unit) and observed a strong association between VNTR6-1 alleles (Short: 24-27 repeats, Long: 40.
View Article and Find Full Text PDFClinical, Morphologic, and Genomic Differences in Deep Penetrating Nevi and Deep Penetrating Nevus-like Melanomas.
Mod Pathol
January 2025
Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL. Electronic address:
Deep penetrating nevi (DPNs) are characterized by activating mutations in the MAP kinase and Wnt/beta-catenin pathways that result in large melanocytes with increased nuclear atypia, cytoplasmic pigmentation, and often mitotic activity. Together with a lack of maturation, this constellation of findings creates challenges for pathologists to distinguish deep penetrating nevus (DPN) from DPN-like melanoma. To assess the utility of next generation sequencing (NGS) in resolving this diagnostic dilemma, we performed NGS studies on 35 lesions including 24 DPNs and 11 DPN-like melanomas to characterize the specific genomic differences between the two groups and elucidate the genetic events involved in malignant transformation of DPNs.
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