Objectives: A recent genome-wide association study or GWAS identified that anthrax roxin receptor 2 (ANTXR2) was one of the risk loci for ankylosing spondylitis (AS). Previous study also showed that ANTXR2 could potentially affect new bone formation. This study aimed to investigate the possible mechanisms of ANTXR2 involved in AS pathogenesis.
Methods: The expression level of ANTXR2 and miR-124 in peripheral blood was detected by quantitative real-time polymerase chain reaction or qRT-PCR. ANTXR2 was predicted to be a target gene of miR-124 by TargetScan, which was confirmed by luciferase reporter assays. Western blot analysis was used to further investigate the effect of miR-124 on c-Jun N-terminal kinase (JNK) activation and evaluate the activated status of autophagy.
Results: We evidenced that ANTXR2 was downregulated and miR-124 was upregulated in peripheral blood from AS patients. Intriguingly, miR-124 targeted ANTXR2 and overexpression of miR-124 in Jurkat cells notably inhibited ANTXR2 expression. ANTXR2 inhibition by miR-124 promoted JNK activation and induced autophagy.
Conclusions: Our results suggested that miR-124 might induce autophagy to participate in AS by targeting ANTXR2, which might be implicated in pathological process of AS.
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http://dx.doi.org/10.3109/14397595.2015.1023887 | DOI Listing |
Introduction: The prognostic differences between neuroendocrine carcinoma (NEC) and mixed neuroendocrine-non-neuroendocrine neoplasm (MiNEN) remain unclear.
Methods: This study aims to compare the prognostic outcomes of NEC and MiNEN by analyzing the clinicopathological features of these diseases and exploring factors affecting progression after radical surgery. Additionally, we employed whole-exome sequencing to investigate the molecular mechanisms influencing the prognosis of both conditions.
Hum Genet
January 2025
Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Refractive error (RE) and myopia are complex polygenic conditions with the majority of genome-wide associated genetic variants in non-exonic regions. Given this, and the onset during childhood, gene-regulation is expected to play an important role in its pathogenesis. This prompted us to explore beyond traditional gene finding approaches.
View Article and Find Full Text PDFPediatr Blood Cancer
December 2024
Department of Pathology, Children's Hospital of Fudan University, Shanghai, China.
BMJ Case Rep
November 2024
Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
Hyaline fibromatosis syndrome is a rare, progressive and fatal autosomal recessive disorder characterised by multiple subcutaneous skin nodules, osteopenia, joint contractures, failure to thrive, diarrhoea and frequent infections. There is diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle and endocrine glands. The disease is often underdiagnosed since infants affected with the disease pass away early prior to establishing a final diagnosis.
View Article and Find Full Text PDFMol Ecol
October 2024
Centre d'Anthropobiologie et de Génomique de Toulouse, CNRS UMR5288, Université Paul Sabatier, Toulouse, France.
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