Upstream Open Reading Frame-Introducing Variants in Patients with Primary Familial Brain Calcification

Medicine, Neurology, Life Sciences, Biochemistry, Genetics,
Primary Familial Brain Calcification   Genetic Variants   5' UTR   Protein Expression   Reporter Assay   Pathogenic Variants   Genetic Diagnosis  

Research Background and Problem Statement Primary Familial Brain Calcification (PFBC) is a rare neurological disorder characterized by microvascular calcification in the basal ganglia and other brain regions. Although at least six genes associated with PFBC have been identified (including SLC20A2, XPR1, PDGFB, PDGFRB, MYORG, and JAM2), the pathogen...

An Adaptive and Robust Method for Multi-Trait Analysis of Genome-Wide Association Studies Using Summary Statistics

Mathematics, Life Sciences, Genetics,
Multi-Trait Analysis   Genome-Wide Association Studies   Summary Statistics   Computational Efficiency   Mathematical Methods   Brain Imaging Phenotypes   Genetic Variants  

Adaptive Robust Method for Multi-trait Genome-wide Association Studies Abstract: Genome-wide association studies (GWAS) over the past decade have identified thousands of genetic variants associated with human traits or diseases. However, the heritability of many traits remains largely unexplained. Traditional single-trait analysis methods are overl...

Integrated Analysis of Blood DNA Methylation, Genetic Variants, Circulating Proteins, MicroRNAs, and Kidney Failure in Type 1 Diabetes

Medicine, Basic Medical Sciences, Endocrinology, Life Sciences, Genetics,
Type 1 Diabetes   DNA Methylation   Genetic Variants   Circulating Proteins   MicroRNAs   Kidney Failure   Personalized Medicine  

Integrated Analysis of Blood DNA Methylation, Genetic Variation, Circulating Proteins, microRNAs, and Kidney Failure in Type 1 Diabetes Research Background Diabetic Kidney Disease (DKD) is one of the major complications of Type 1 Diabetes (T1D). Approximately 40% of T1D patients develop DKD, and 10% to 15% eventually progress to Kidney Failure (KF)...