Publications by authors named "Huangqi Xue"
Objectives: This study aims to characterize the expression profiles of circRNAs in primary Sjogren's Syndrome (pSS) and examine the potential of noninvasive circular RNAs (circRNAs) as biomarkers of pSS.
Methods: We performed RNA sequencing of minor salivary gland (MSG) biopsies from four pSS and four non-pSS individuals (subjects undergoing MSG biopsies but not meeting 2012 or 2016 ACR classification criteria for SS). Differentially expressed circRNAs were identified by DESeq2, and confirmed by quantitative real-time PCR in the MSGs as well as in plasma exosomes in 37 pSS and 14 non-pSS subjects.
Primary Sjögren's syndrome (pSS) is a common chronic autoimmune disease characterized by a high prevalence of autoantibodies and lymphocyte-mediated exocrine gland damage. To enhance our understanding of the mechanisms underlying the progression of the disease and to discover potential biomarkers for the early diagnosis of pSS, we applied RNA sequencing to compare the gene expression patterns in minor salivary glands between pSS patients and non-pSS. A total of 293 differentially expressed genes (DEGs) were detected in pSS vs.
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- Recent whole-exome sequencing studies reveal the impact of de novo mutations (DNMs) on epileptic encephalopathies, particularly in West syndrome.
- Three loss-of-function DNMs were identified in the CSNK1E and STXBP1 genes, with one mutation leading to a premature stop codon in CSNK1E.
- The findings suggest a significant link between CSNK1E variants and epilepsy susceptibility, as well as connections to various neuropsychiatric disorders through a network of coexpressed genes, highlighting its role in midbrain development.
Article Synopsis
- - Intellectual disability (ID) affects about 1-2% of people globally and is associated with various genetic mutations, prompting the need for organized genetic research resources.
- - The study presents 'IDGenetics', a comprehensive database comprising data on 815 genes and 17,102 variants linked to 918 clinical diseases, collected from a wide range of publications and ID databases.
- - IDGenetics enhances ID research with detailed data mining, user-friendly search and browsing features, and offers analytical tools for better understanding ID's genetic basis and improving clinical practices.