Unraveling the genetic causes in large pedigrees with gout by whole‑exome sequencing

Xia, Xiaoru; Jin, Jing; Chen, Zhen-Ji; Zhou, Zhenni; Chen, Hui; Zhang, Chunwu; Zhang, Linhua; Sun, Li

doi:10.3892/ijmm.2020.4501

Cited by 3 publications

(3 citation statements)

References 73 publications

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“…The STRING database 5 aims to provide a comprehensive assessment and integration of PPIs, encompassing both indirect (functional) and direct (physical) associations ( Xia et al, 2020 ). To evaluate the interactive relationship among differentially expressed genes (DEGs), the DEGs were firstly mapped to STRING.…”

Section: Methodsmentioning

confidence: 99%

A replicative recombinant HPV16 E7 expression virus upregulates CD36 in C33A cells

Shao,

Wang,

Zheng

et al. 2023

Front. Microbiol.

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ObjectiveIn past decades, the role of high-risk HPV (HR-HPV) infection in cancer pathogenesis has been extensively studied. The viral E7 protein expressed in pre-malignant cells has been identified as an ideal target for immunological intervention. However, the cultivation of HPV in vitro remains a significant challenge, as well as the lack of methods for expressing the HPV E7 protein and generating replication-competent recombinant viral particles, which posed a major obstacle to further exploration of the function and carcinogenic mechanisms of the E7 oncoprotein. Therefore, it is imperative to investigate novel methodologies to construct replication-competent recombinant viral particles that express the HPV E7 protein to facilitate the study of its function.MethodsWe initiated the construction of recombinant viral particles by utilizing the ccdB-Kan forward/reverse screening system in conjunction with the Red/ExoCET recombinant system. We followed the infection of C33A cells with the obtained recombinant virus to enable the continuous expression of HPV16 E7. Afterwards, the total RNA was extracted and performed transcriptome sequencing using RNA-Seq technology to identify differentially expressed genes associated with HPV-induced oncogenicity.ResultsWe successfully established replicative recombinant viral particles expressing HPV16 E7 stably and continuously. The C33A cells were infected with recombinant viral particles to achieve overexpression of the E7 protein. Subsequently, RNA-Seq analysis was conducted to assess the changes in host cell gene expression. The results revealed an upregulation of the CD36 gene, which is associated with the HPV-induced oncogenic pathways, including PI3K-Akt and p53 signaling pathway. qRT-PCR analysis further identified that the upregulation of the CD36 gene due to the expression of HPV16 E7.ConclusionThe successful expression of HPV16 E7 in cells demonstrates that the replicated recombinant virus retains the replication and infection abilities of Ad4, while also upregulating the CD36 gene involved in the PI3K-Akt signaling and p53 pathways, thereby promoting cell proliferation. The outcome of this study provides a novel perspective and serves as a solid foundation for further exploration of HPV-related carcinogenesis and the development of replicative HPV recombinant vaccines capable of inducing protective immunity against HPV.

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Section: Methodsmentioning

confidence: 99%

A replicative recombinant HPV16 E7 expression virus upregulates CD36 in C33A cells

Shao,

Wang,

Zheng

et al. 2023

Front. Microbiol.

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“…Decreasing the expression of miR‐217 and miR‐543 attenuated the cardiomyocyte injury induced by CVB3 infection, through the regulation of sirtuin 1 /activated Adenosine 5‘‐monophosphate ‐activated protein kinase (AMPK)/nuclear factor kappa‐B signaling pathway. [ 42 ] Cardiac fibroblasts (CFs)‐derived EVs were shown to be enriched in miR‐21‐3p. These EVs aggravated cardiac hypertrophy by targeting SORBS2 and PDLIM5.…”

Section: Different Origins Of Evs In Cardiac Injurymentioning

confidence: 99%

Closer to The Heart: Harnessing the Power of Targeted Extracellular Vesicle Therapies

Jiang,

Zhang,

Wang

et al. 2023

Advanced Biology

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Extracellular vesicles (EVs) have emerged as novel diagnostic and therapeutic approaches for cardiovascular diseases. EVs derived from various origins exhibit distinct effects on the cardiovascular system. However, the application of native EVs is constrained due to their poor stabilities and limited targeting capabilities. Currently, targeted modification of EVs primarily involves genetic engineering, chemical modification (covalent, non‐covalent), cell membrane modification, and biomaterial encapsulation. These techniques enhance the stability, biological activity, target‐binding capacity, and controlled release of EVs at specific cells and tissues. The diverse origins of cardioprotective EVs are covered, and the applications of cardiac‐targeting EV delivery systems in protecting against cardiovascular diseases are discussed. This review summarizes the current stage of research on the potential of EV‐based targeted therapies for addressing cardiovascular disorders.

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“…Gout is a complex form of arthritis which is caused by elevated serum urate concentrations. It is characterized by sudden and severe joint inflammation [20,[31][32][33][34][35]. Several SNPs have been associated with gout, most of which are in urate transporter genes [31,32].…”

Section: Purines and Goutmentioning

confidence: 99%

Purine metabolites and complex diseases: role of genes and nutrients

Nelson

Voruganti

2021

Current Opinion in Clinical Nutrition &Amp; Metabolic Care

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Purpose of review Purines have several important physiological functions as part of nucleic acids and as intracellular and extracellular signaling molecules. Purine metabolites, particularly uric acid, have been implicated in congenital and complex diseases. However, their role in complex diseases is not clear and they have both beneficial and detrimental effects on disease pathogenesis. In addition, the relationship between purines and complex diseases is affected by genetic and nutritional factors. This review presents latest findings about the relationship between purines and complex diseases and the effect of genes and nutrients on this relationship. Recent findings Evidence from recent studies show strong role of purines in complex diseases. Although they are causal in only few diseases, our knowledge about their role in other diseases is still evolving. Of all the purines, uric acid is the most studied. Uric acid acts as an antioxidant as well as a prooxidant under different conditions, thus, its role in disease also varies. Other purines, adenosine and inosine have been less studied, but they have neuroprotective properties which are valuable in neurodegenerative diseases. Summary Purines are molecules with great potential in disease pathogenesis as either metabolic markers or therapeutic targets. More studies need to be conducted to understand their relevance for complex diseases.

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Unraveling the genetic causes in large pedigrees with gout by whole‑exome sequencing

Cited by 3 publications

References 73 publications

A replicative recombinant HPV16 E7 expression virus upregulates CD36 in C33A cells

A replicative recombinant HPV16 E7 expression virus upregulates CD36 in C33A cells

Closer to The Heart: Harnessing the Power of Targeted Extracellular Vesicle Therapies

Purine metabolites and complex diseases: role of genes and nutrients

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