Jacob L. McCauley
A5048941989- Multiple Sclerosis Research Studies
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Inflammatory Bowel Disease
- Genetics and Neurodevelopmental Disorders
- Intracerebral and Subarachnoid Hemorrhage Research
- Systemic Lupus Erythematosus Research
- Immunodeficiency and Autoimmune Disorders
- RNA regulation and disease
- T-cell and B-cell Immunology
- RNA Research and Splicing
- Genomic variations and chromosomal abnormalities
- Cytokine Signaling Pathways and Interactions
- Viral Infections and Immunology Research
- T-cell and Retrovirus Studies
- Cancer-related gene regulation
- Autism Spectrum Disorder Research
- Helicobacter pylori-related gastroenterology studies
- Genetic Mapping and Diversity in Plants and Animals
- Neurogenetic and Muscular Disorders Research
- Amyotrophic Lateral Sclerosis Research
- Acute Ischemic Stroke Management
- Bioinformatics and Genomic Networks
- Cellular transport and secretion
- Congenital heart defects research
University of Miami
2016-2025
Dr. John T. Macdonald Foundation
2016-2025
University of Virginia Health System
2023
The University of Texas Health Science Center at Houston
2023
University of Louisville
2023
Illinois College
2023
University of Illinois Chicago
2023
University of California System
2022
The University of Texas MD Anderson Cancer Center
2022
University of Iowa
2020
Multiple sclerosis has a clinically significant heritable component. We conducted genomewide association study to identify alleles associated with the risk of multiple sclerosis.We used DNA microarray technology common sequence variants in 931 family trios (consisting an affected child and both parents) tested them for association. For replication, we genotyped another 609 trios, 2322 case subjects, 789 control subjects genotyping data from two external sets. A joint analysis 12,360 was...
IL-17A–expressing CD4+ T cells (Th17 cells) are generally regarded as key effectors of autoimmune inflammation. However, not all Th17 pro-inflammatory. Pathogenic that induce autoimmunity in mice distinguished from nonpathogenic by a unique transcriptional signature, including high Il23r expression, and these require for their inflammatory function. In contrast, defining features human pro-inflammatory unknown. We show restricted to subset CCR6+CXCR3hiCCR4loCCR10−CD161+ transiently express...
The Caribbean basin is home to some of the most complex interactions in recent history among previously diverged human populations. Here, we investigate population genetic this region by characterizing patterns genome-wide variation 330 individuals from three Greater Antilles (Cuba, Puerto Rico, Hispaniola), two mainland (Honduras, Colombia), and Native South American (Yukpa, Bari, Warao) We combine these data with a unique database genomic over 3,000 diverse European, African, use local...
To identify preferred neurofilament assays and clinically validate serum light (NfL) phosphorylated heavy (pNfH) as prognostic potential pharmacodynamic biomarkers relevant to amyotrophic lateral sclerosis (ALS) therapy development.In this prospective, multicenter, longitudinal observational study of patients with ALS (n = 229), primary 20), progressive muscular atrophy 11), biological specimens were collected, processed, stored according strict standard operating procedures (SOPs)....
Summary Although autism is one of the most heritable neuropsychiatric disorders, its underlying genetic architecture has largely eluded description. To comprehensively examine hypothesis that common variation important in autism, we performed a genome‐wide association study (GWAS) using discovery dataset 438 autistic Caucasian families and Illumina Human 1M beadchip. 96 single nucleotide polymorphisms (SNPs) demonstrated strong with risk (p‐value < 0.0001). The validation top SNPs was an...
Multiple sclerosis (MS) is an inflammatory disease of the central nervous system associated with demyelination and axonal loss. A whole genome association scan suggested that allelic variants in CD58 gene region, encoding costimulatory molecule LFA-3, are risk developing MS. We now report additional genetic evidence, as well resequencing fine mapping locus patients MS control subjects. These efforts identify a variant provides further evidence (P = 1.1 x 10(-6), OR 0.82) single protective...
Human serotonin [5-hydroxytryptamine (5-HT)] transporters (hSERT, 5HTT, and SLC6A4 ) inactivate 5-HT after release are prominent targets for therapeutic intervention in mood, anxiety, obsessive-compulsive disorders. Multiple hSERT coding variants have been identified, although to date no comprehensive functional analysis of these has reported. We transfected or 10 examined total surface protein expression, antagonist recognition, transporter modulation by posttranslational, regulatory...
Autism is a neurobehavioral spectrum of phenotypes characterized by deficits in the development language and social relationships patterns repetitive, rigid compulsive behaviors. Twin family studies point to significant genetic etiology, several groups have performed genomic linkage screens identify susceptibility loci. We genome-wide screen 158 combined Tufts, Vanderbilt AGRE (Autism Genetics Research Exchange) multiplex autism families using parametric nonparametric methods with...
The ApoE ε4 allele is the most significant genetic risk factor for late-onset Alzheimer disease. conferred by ε4, however, differs across populations, with populations of African ancestry showing lower compared to those European or Asian ancestry. cause this heterogeneity in effect currently unknown; it may be due environmental cultural factors correlated ancestry, variation local region that among populations. Exploring these hypotheses lead novel, population-specific therapeutics and...
Background and Purpose— Epidemiological studies of intracerebral hemorrhage (ICH) have consistently demonstrated variation in incidence, location, age at presentation, outcomes among non-Hispanic white, black, Hispanic populations. We report here the design methods for this large, prospective, multi-center case–control study ICH. Methods— The Ethnic/Racial Variations Intracerebral Hemorrhage (ERICH) is a multi-center, prospective Cases are identified by hot-pursuit enrolled using standard...
<h3>Introduction</h3> Intracerebral hemorrhage (ICH) is the most severe subtype of stroke. Its mortality rate high, and survivors experience significant disability. <h3>Objective</h3> To assess primary patient risk factors associated with neurologic disability 3 months after ICH in a large, racially ethnically balanced cohort. <h3>Design, Setting, Participants</h3> This cohort study included participants from Ethnic/Racial Variations Hemorrhage (ERICH) study, which prospectively recruited...