Emily Mason
A5079665750- Genetic Associations and Epidemiology
- Parkinson's Disease Mechanisms and Treatments
- Genomic variations and chromosomal abnormalities
- Lung Cancer Treatments and Mutations
- RNA regulation and disease
- Neuroscience and Neuropharmacology Research
- Platelet Disorders and Treatments
- Nuclear Receptors and Signaling
- Neuroinflammation and Neurodegeneration Mechanisms
- Genetics and Neurodevelopmental Disorders
- CRISPR and Genetic Engineering
- Receptor Mechanisms and Signaling
- Biochemical Analysis and Sensing Techniques
- Autism Spectrum Disorder Research
- T-cell and Retrovirus Studies
- Biochemical effects in animals
- Complement system in diseases
- Cardiac Ischemia and Reperfusion
- Cellular transport and secretion
- Blood groups and transfusion
- Alzheimer's disease research and treatments
Indiana University School of Medicine
2022-2024
Indiana University – Purdue University Indianapolis
2024
University of South Carolina
2023
Cleveland Clinic Lerner College of Medicine
2020-2022
University School
2022
Indiana University
2022
Johns Hopkins University
2008
This work was undertaken in order to identify Parkinson's disease (PD) risk variants a Latino cohort, describe the overlap genetic architecture of PD Latinos compared European-ancestry subjects, and increase diversity genome-wide association (GWAS) data.We genotyped imputed 1,497 cases controls recruited from nine clinical sites across South America. We performed GWAS using logistic mixed models; with p-value <1 × 10-5 were tested replication cohort 1,234 self-reported 439,522 23andMe, Inc....
Glutamate is an excitatory neurotransmitter that binds to the kainate receptor, N-methyl-D-aspartate (NMDA) and α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor (AMPAR). Each was first characterized cloned in central nervous system (CNS). also present periphery, glutamate receptors have been identified nonneuronal tissues, including bone, heart, kidney, pancreas, platelets. Platelets play a role normal thrombosis hemostasis, as well contributing greatly diseases such...
Abstract Background Sex differences in Parkinson's disease (PD) risk are well‐known. However, the role of sex chromosomes development and progression PD is still unclear. Objective The objective this study was to perform first X‐chromosome–wide association for a Latin American cohort. Methods We used data from three admixed cohorts: (1) Research consortium on Genetics Disease (n = 1504) as discover cohort, (2) Latino cohort International Parkinson Genomics Consortium 155) (3) Bambui Aging...
Platelets recruit leukocytes and mediate interactions between endothelial cells. Most studies examining this important platelet immune function have focused on the development of atherosclerosis, but similar mechanisms may contribute to acute chronic vascular lesions in transplants. been described as markers transplant rejection, little investigation has critically examined a role for platelets vasculopathy and, particular, alloantibody-mediated rejection. We now demonstrate using skin model...
Abstract INTRODUCTION A noncoding variant (rs35349669) within INPP5D , a lipid and protein phosphatase restricted to microglia in the brain, is linked increased susceptibility Alzheimer's disease (AD). While Inpp5d well‐studied amyloid pathology, its role tau pathology remains unclear. METHODS PS19 Tauopathy mice were crossed with Inpp5d‐haplodeficient ( Inpp5d+/− ) examine impact of pathology. RESULTS Increased expression correlated positively phospho‐Tau AT8 mice. haplodeficiency mitigated...
Abstract To date, over 90 Parkinson’s disease (PD) risk variants have been reported from genome-wide association studies (GWAS). However, these GWAS efforts limited to individuals of European and East Asian ancestry. We performed the first Latino PD patients South America, comparing 807 cases against 690 controls followed by testing suggestive loci in a replication cohort 1,234 439,522 controls. demonstrated that SNCA plays significant role etiology identified locus near NRROS on chromosome...
Abstract Sex differences in Parkinson Disease (PD) risk are well-known. However, it is still unclear the role of sex chromosomes development and progression PD. We performed first X-chromosome Wide Association Study (XWAS) for PD Latin American individuals. used data from three admixed cohorts: (i) Research consortium on GEnetics Parkinson’s (n=1,504) as discover cohort (ii) Latino International Genomics Consortium (n = 155) (iii) Bambui Aging (n= 1,442) replication cohorts. After developing...
Abstract Background Large-scale Parkinson’s disease (PD) genome-wide association studies (GWAS) and meta-analyses have, until recently, only been conducted on subjects with European-ancestry. Consequently, polygenic risk scores (PRS) constructed using PD GWAS data are likely to be less predictive when applied non-European cohorts. Methods Using from Nalls et al. 2019, we a PRS for Latino cohort (LARGE-PD) tested it status. We validated the performance through testing in an independent of...