Tiit Nikopensius

TL;DR: A meta-analysis of genome-wide association studies for estimated glomerular filtration rate suggests that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.

TL;DR: In this article, the authors performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors, uncovering 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80.

TL;DR: The study results suggest that genetic variants of several candidate genes of neurotransmitter systems, each of a minor individual effect, may contribute to the susceptibility to PD.

TL;DR: In this paper, the cause of early infantile epileptic encephalopathy in a boy with neonatal seizures, movement disorders, and multiple congenital anomalies who died at the age of 17 months because of respiratory illness was identified.

TL;DR: A strategy for integrating prior biological knowledge into the existing GWAS data for eGFR from the CKDGen Consortium is developed, focusing on single nucleotide polymorphism (SNPs) in genes that are connected by functional evidence, determined by literature mining and gene ontology (GO) hierarchies, to genes near previously validated eG FR associations.