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| http://dx.doi.org/10.21037/sci.2016.05.03 | DOI Listing |
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Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.
BMC Med Genomics
March 2025
Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
Background: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked disorder caused by pathogenic variants in the SLC16A2 gene. Although most reported variants are found in protein-coding regions or adjacent junctions, structural variations (SVs) within non-coding regions have not been previously reported.
Methods: We investigated two male siblings with severe neurodevelopmental disorders and spasticity, who had remained undiagnosed for over a decade and were negative from exome sequencing, utilizing long-read HiFi genome sequencing.
Exploring the molecular characterization of PANoptosis-related genes with features of immune dysregulation in Alzheimer's disease based on bulk and single-nuclei RNA sequencing.
Metab Brain Dis
January 2025
Chengdu University of Traditional Chinese Medicine, Chengdu, 611137, Sichuan, P.R. China.
The immune system has emerged as a major factor in the pathogenesis of Alzheimer's disease (AD). PANoptosis is a newly defined programmed cell death mechanism related to many inflammatory diseases. This study aimed to identify the differentially expressed (DE) PANoptosis-related genes with characteristics of immune dysregulation (PRGIDs) in AD using bioinformatics analysis of bulk RNA-seq and single-nuclei RNA sequencing (snRNA-seq) data.
View Article and Find Full Text PDFFoxd3/SLC5A6 axis regulates apoptosis in LUAD cells by controlling mitochondrial biotin uptake.
Cell Signal
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Department of Thoracic Surgery, The Dingli Clinical College of Wenzhou Medical University, Wenzhou Central Hospital, Wenzhou, China. Electronic address:
Lung cancer remains one of the leading causes of cancer-related mortality worldwide, with non-small cell lung cancer (NSCLC) accounting for over 85 % of cases. Lung adenocarcinoma (LUAD) is the most common subtype of NSCLC, and while targeted therapies and immune checkpoint inhibitors have improved outcomes, many patients exhibit resistance, necessitating the development of novel treatments. This study explores the role of the SLC5A6 gene, which encodes a sodium-dependent multivitamin transporter critical for mitochondrial function, in LUAD progression.
View Article and Find Full Text PDFFUDNC1-dependent mitophagy ameliorate motor neuron death in an amyotrophic lateral sclerosis mouse model.
Neurobiol Dis
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Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Neurology, Chongqing 400016, China. Electronic address:
Amyotrophic lateral sclerosis (ALS) is one of the most common neurodegenerative diseases, yet effective treatment is lacking. Moreover, the underlying pathomechanisms of ALS remain unclear, with impaired mitophagy function being increasingly recognized as a contributing factor. FUN14 domain-containing protein 1 (FUNDC1) is an autophagy receptor localized to the outer mitochondrial membrane and a mitochondrial membrane protein that mediates mitophagy and therefore considered as important factor in neurodegenerative diseases.
View Article and Find Full Text PDFThe oxidative stress-associated long non-coding RNAs in pancreatic cancer.
Adv Med Sci
September 2024
Department of Cell and Molecular Biology, Faculty of Life Sciences and Biotechnology, Shahid Beheshti University, Tehran, Iran. Electronic address:
Purpose: A lot of people are dying from pancreatic cancer (PC) annually. The early detection of this cancer is particularly challenging due to the fact that symptoms tend to appear in advanced stages. It has been suggested that oxidative stress may play a role in the development of PC.
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