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Advances of Liquid Biopsy for Diagnosis of Atrial Fibrillation and Its Recurrence After Ablation in Clinical Application
Atrial fibrillation (AF) is a common arrhythmia disease with high morbidity in clinical practice and leads to stroke, heart failure, peripheral...
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Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array
AimsThere is little knowledge about partial trisomy 4q and the genotype–phenotype correlation. In this study, we presented the detail of two Chinese...
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Targeting oncogenic microRNAs from the miR-371~373 and miR-302/367 clusters in malignant germ cell tumours causes growth inhibition through cell cycle disruption
BackgroundMiR-371~373 and miR-302/367 cluster over-expression occurs in all malignant germ cell tumours (GCTs), regardless of age (paediatric/adult),...
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Genomic approaches to identify and investigate genes associated with atrial fibrillation and heart failure susceptibility
Atrial fibrillation (AF) and heart failure (HF) contribute to about 45% of all cardiovascular disease (CVD) deaths in the USA and around the globe....
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Sex-specific genetic architecture of blood pressure
The genetic and genomic basis of sex differences in blood pressure (BP) traits remain unstudied at scale. Here, we conducted sex-stratified and...
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Defects in Ankyrin-based Protein Targeting Pathways in Human Arrhythmia
Ion channels and transporters regulate transmembrane electrochemical gradients to control cardiomyocyte depolarization/repolarization and cell...
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Synaptopodin-2: a potential tumor suppressor
Initially identified as an actin-binding protein containing a PSD95-DLG-ZO1 Domain (PZD domain), Synaptopodin 2 (SYNPO2) has long been considered a...
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In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene
Paired homologous domain transcription factor 2 (PITX2) is critically involved in ocular and cardiac development. Mutations in PITX2 are consistently...
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Enhancer–promoter specificity in gene transcription: molecular mechanisms and disease associations
Although often located at a distance from their target gene promoters, enhancers are the primary genomic determinants of temporal and spatial...
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Integrated analysis reveals the dysfunction of signaling pathways in uveal melanoma
BackgroundUveal melanoma (UM) is the most common primary intraocular malignancy with a strong tendency to metastasize. The prognosis is poor once...
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Placental DNA methylation profile as predicting marker for autism spectrum disorder (ASD)
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that impairs normal brain development and socio-cognitive abilities. The pathogenesis...
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A novel missense mutation of FOXC1 in an Axenfeld–Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review
BackgroundAxenfeld–Rieger syndrome (ARS) is a rare autosomal dominant hereditary disease characterized primarily by maldevelopment of the anterior...
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Genetic and RNA-related molecular markers of trastuzumab-chemotherapy-associated cardiotoxicity in HER2 positive breast cancer: a systematic review
Cancer-therapy related cardiotoxicity (CTRCT) is a significant and frequent complication of monoclonal antibody directed therapy, especially...
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Influence of the rs6736 Polymorphism on Ischemic Stroke Susceptibility in Han Chinese Individuals via the Disruption of miR-7–1 Binding to the C14orf119 Gene
This study investigates the association between the C14orf119 gene rs6736 polymorphism and ischemic stroke (IS) susceptibility, and explores the...
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Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions
Here, in a multi-ancestry genome-wide association study meta-analysis of kidney cancer (29,020 cases and 835,670 controls), we identified 63...
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HPV insertional pattern as a personalized tumor marker for the optimized tumor diagnosis and follow-up of patients with HPV-associated carcinomas: a case report
BackgroundIn clinical oncology, only a few applications have been developed using HPV as a personalized tumor marker, a lack most probably related to...
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Transcriptional factors in calcium mishandling and atrial fibrillation development
Healthy cardiac conduction relies on the coordinated electrical activity of distinct populations of cardiomyocytes. Disruption of cell–cell...
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METAP1 mutation is a novel candidate for autosomal recessive intellectual disability
Intellectual disability (ID) is a genetic and clinically heterogeneous common disease and underlying molecular pathogenesis can frequently not be...
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Epilepsy and Migraine Shared Genetic and Molecular Mechanisms: Focus on Therapeutic Strategies
Epilepsy and migraine are both episodic disorders and share clinical as well as pathophysiological mechanisms. The prevalence of epilepsy in migraine...
