Associated Papers
Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila.
Thorpe HJ et al.
American Journal of Human Genetics, 2025
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in Drosophila.
Thorpe HJ et al.
Biorxiv : the Preprint Server for Biology, 2024
YTGT: A new high-prevalence antigen in the Yt blood group system in two unrelated Native Americans and transfusion management.
Van Buren NL et al.
Transfusion, 2022
In silico analyses of acetylcholinesterase (AChE) and its genetic variants in interaction with the anti-Alzheimer drug Rivastigmine.
Pereira GRC et al.
Journal of Cellular Biochemistry, 2022
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
Bayesian meta-analysis of inter-phenotypic differences in human serum paraoxonase-1 activity for chemical risk assessment.
Darney K et al.
Environment International, 2020
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Turcot V et al.
Nature Genetics, 2018
Naturally Occurring Genetic Variants of Human Acetylcholinesterase and Butyrylcholinesterase and Their Potential Impact on the Risk of Toxicity from Cholinesterase Inhibitors.
Lockridge O et al.
Chemical Research in Toxicology, 2016
A new role for the nonpathogenic nonsynonymous single-nucleotide polymorphisms of acetylcholinesterase in the treatment of Alzheimer's disease: a computational study.
Saravanaraman P et al.
Journal of Computational Biology : a Journal of Computational Molecular Cell Biology, 2014
Structural and energetic analyses of SNPs in drug targets and implications for drug therapy.
Sun HY et al.
Journal of Chemical Information and Modeling, 2013
Naturally occurring variations in the human cholinesterase genes: heritability and association with cardiovascular and metabolic traits.
Valle AM et al.
The Journal of Pharmacology and Experimental Therapeutics, 2011
Analysis of genetic polymorphisms in acetylcholinesterase as reflected in different populations.
Hasin Y et al.
Current Alzheimer Research, 2005
A paradigm for single nucleotide polymorphism analysis: the case of the acetylcholinesterase gene.
Hasin Y et al.
Human Mutation, 2004