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PLCE1 regulates the migration, proliferation, and differentiation of podocytes
PLCE1 encodes phospholipase C epsilon, and its mutations cause recessive nephrotic syndrome. However, the mechanisms by which PLCE1 mutations result...
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The Polymorphic Locus rs167479 of the RGL3 Gene Is Associated with the Risk of Severe Preeclampsia
AbstractIn this work, the associations of polymorphism of candidate genes of arterial hypertension with the development of severe preeclampsia (PE)...
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Polygenic prediction of preeclampsia and gestational hypertension
Preeclampsia and gestational hypertension are common pregnancy complications associated with adverse maternal and child outcomes. Current tools for...
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Epigenetically upregulated oncoprotein PLCE1 drives esophageal carcinoma angiogenesis and proliferation via activating the PI-PLCε-NF-κB signaling pathway and VEGF-C/ Bcl-2 expression
BackgroundEsophageal squamous cell carcinoma (ESCC) is one of the most lethal malignancies. Neovascularization during tumorigenesis supplies oxygen...
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Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients
Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes, including inherited genetic defects, with significant...
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Analysis of the Involvement of Susceptibility Genes to Coronary Heart Disease in Implementation Signaling and Metabolic Pathways
AbstractCoronary heart disease (CHD) is a common pathology, and its development is mediated by a large number of genetic factors, environmental...
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MicroRNA-34 and gastrointestinal cancers: a player with big functions
It is commonly assumed that gastrointestinal cancer is the most common form of cancer across the globe and is the leading contributor to...
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Prediction of esophageal cancer risk based on genetic variants and environmental risk factors in Chinese population
BackgroundResults regarding whether it is essential to incorporate genetic variants into risk prediction models for esophageal cancer (EC) are...
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Integrating eQTL and GWAS data characterises established and identifies novel migraine risk loci
Migraine—a painful, throbbing headache disorder—is the most common complex brain disorder, yet its molecular mechanisms remain unclear. Genome-wide...
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An Association and Meta-Analysis of Esophageal Squamous Cell Carcinoma Risk Associated with PLCE1 rs2274223, C20orf54 rs13042395 and RUNX1 rs2014300 Polymorphisms
One of the highest risk of esophageal squamous cell carcinoma (ESCC) in the world has been reported in Iran, which is located in the Asian esophageal...
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The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects
Specific activating missense HRAS variants cause Costello syndrome (CS), a RASopathy with recognizable facial features. The majority of these...
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Current Insights into Signature MicroRNA Networks and Signal Transduction in Osteosarcoma
Purpose of ReviewOsteosarcoma is one of the most common types of primary bone tumors that mainly occurs in children and adolescents. It is...
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A novel NF-κB regulator encoded by circPLCE1 inhibits colorectal carcinoma progression by promoting RPS3 ubiquitin-dependent degradation
BackgroundConstitutive activation of nuclear factor-κB (NF-κB) signaling plays a key role in the development and progression of colorectal carcinoma...
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Identification and validation of miR-583 and mir-877-5p as biomarkers in patients with breast cancer: an integrated experimental and bioinformatics research
ObjectivesBreast cancer (BC) is one of the most common cancers with a high mortality rate in women worldwide. The advantages of early cancer...
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A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome
Costello syndrome (CS) is caused by heterozygous HRAS germline mutations. Most patients share the HRAS variant p.Gly12Ser that is associated with a...
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Pharmacogenetics of chemotherapy treatment response and -toxicities in patients with osteosarcoma: a systematic review
BackgroundOsteosarcoma is the most common bone tumor in children and adolescents. Despite multiagent chemotherapy, only 71% of patients survives and...
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Lifestyles, genetics, and future perspectives on gastric cancer in east Asian populations
The prevalence of gastric cancer (GC) differs among regions worldwide, with the highest occurrence in east Asia. Thus, its etiology, with respect to...
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The clinical utility of rapid exome sequencing in a consanguineous population
BackgroundThe clinical utility of exome sequencing is now well documented. Rapid exome sequencing (RES) is more resource-intensive than regular exome...
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Expanding uncapped translation and emerging function of circular RNA in carcinomas and noncarcinomas
Circular RNAs (circRNAs) are classified as noncoding RNAs because they are devoid of a 5’ end cap and a 3’ end poly (A) tail necessary for...
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Kisspeptin and the Genetic Obesity Interactome
Background: Kisspeptin (encoded by the KISS1 gene in humans) is an excitatory neuromodulatory peptide implicated in multiple homeostatic systems,...