Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Progressive Supranuclear Palsy PERK haplotype B selectively translates DLX1 promoting tau toxicity.
Lessard CB et al.
Biorxiv : the Preprint Server for Biology, 2025
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
Genetic knock-in of EIF2AK3 variants reveals differences in PERK activity in mouse liver and pancreas under endoplasmic reticulum stress.
Ghura S et al.
Scientific Reports, 2024
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
Genetic Variations in EIF2AK3 are Associated with Neurocognitive Impairment in People Living with HIV.
Akay-Espinoza C et al.
Journal of Neuroimmune Pharmacology : the Official Journal of the Society on Neuroimmune Pharmacology, 2024
Ethnic variation and structure-function analysis of tauopathy-associated PERK alleles.
Park G et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Neurodegeneration risk factor, EIF2AK3 (PERK), influences tau protein aggregation.
Park G et al.
The Journal of Biological Chemistry, 2023
Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma.
Shah MH et al.
Indian Journal of Ophthalmology, 2021
Performance comparison: exome sequencing as a single test replacing Sanger sequencing.
Fridman H et al.
Molecular Genetics and Genomics : Mgg, 2021
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
Tauopathy-associated PERK alleles are functional hypomorphs that increase neuronal vulnerability to ER stress.
Yuan SH et al.
Human Molecular Genetics, 2018
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.
Ferrari R et al.
Neurobiology of Aging, 2014
The unfolded protein response is activated in disease-affected brain regions in progressive supranuclear palsy and Alzheimer's disease.
Stutzbach LD et al.
Acta Neuropathologica Communications, 2013
A functional haplotype in EIF2AK3, an ER stress sensor, is associated with lower bone mineral density.
Liu J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2012
Genome bioinformatic analysis of nonsynonymous SNPs.
Burke DF et al.
Bmc Bioinformatics, 2007