A5087964694- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Congenital heart defects research
- Retinal Development and Disorders
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- Traumatic Brain Injury and Neurovascular Disturbances
- Genetic Associations and Epidemiology
- S100 Proteins and Annexins
- Glaucoma and retinal disorders
- Retinal Diseases and Treatments
- Schizophrenia research and treatment
- Cell Image Analysis Techniques
- Prenatal Screening and Diagnostics
- Stroke Rehabilitation and Recovery
- Heme Oxygenase-1 and Carbon Monoxide
- Virology and Viral Diseases
- Retinal Imaging and Analysis
- Advanced Fluorescence Microscopy Techniques
- Corneal surgery and disorders
University of Iowa
2008-2015
Iowa City VA Health Care System
2014-2015
Hy-Line (United States)
2009
Several lines of evidence point to genetic involvement in autism spectrum disorders (ASDs), neurodevelopmental and neuropsychiatric characterized by impaired verbal communication social interaction. The clinical complexities the condition make it difficult identify susceptibility factors, but two related studies now present robust for a involvement. first, genome-wide association study, identifies six single-nucleotide polymorphisms strongly associated with autism. These variants lie between...
Purpose.: Traumatic brain injury (TBI) frequently leads to chronic visual dysfunction. The purpose of this study was investigate the effect TBI on retinal ganglion cells (RGCs), and test whether treatment with novel neuroprotective compound P7C3-S243 could prevent in vivo functional deficits system. Methods.: Blast-mediated modeled using an enclosed over-pressure blast chamber. RGC physiology evaluated a multielectrode array pattern electroretinogram (PERG). Histological analysis dendritic...
<h3>Context</h3>The single-nucleotide polymorphism rs1344706 in the gene ZNF804a has been associated with schizophrenia and quantitative phenotypic features, including brain structure volume core symptoms of schizophrenia.<h3>Objective</h3>To evaluate associations schizophrenia.<h3>Design</h3>Case-control analysis covariance.<h3>Setting</h3>University-based research hospital.<h3>Participants</h3>Volunteer sample 335 individuals spectrum disorders (306 schizophrenia) 198 healthy...
The frequent comorbidity of Autism Spectrum Disorders (ASDs) with epilepsy suggests a shared underlying genetic susceptibility; several genes, when mutated, can contribute to both disorders. Recently, PRICKLE1 missense mutations were found segregate ASD. However, the mechanism by which in this gene might ASD is unknown. To elucidate role ASDs, we carried out studies Prickle1(+/-) mice and Drosophila, yeast, neuronal cell lines. We show that Prickle1 exhibit ASD-like behaviors. find proteins...
Autism is a neurodevelopmental disorder characterized by three core symptom domains: ritualistic-repetitive behaviors, impaired social interaction, and communication language development. Recent studies have highlighted etiologically relevant recurrent copy number changes in autism, such as 16p11.2 deletions duplications, well significant role for unique, novel variants. We used Affymetrix 250K GeneChip Microarray technology (either NspI or StyI) to detect microdeletions duplications subset...
Purpose.: This study sought to investigate the role of rare copy number variation (CNV) in age-related disorders blindness, with a focus on primary open-angle glaucoma (POAG). Data are reported from whole-genome screen large cohort 400 individuals POAG and 500 age-matched glaucoma-free subjects. Methods.: DNA samples patients controls were tested for CNVs using combination two microarray platforms. The signal intensity data generated these arrays then analyzed multiple CNV detection programs...
Schizophrenia is a chronic and severe psychiatric disorder that highly heritable. While both common rare genetic variants contribute to disease risk, many questions still remain about etiology. We performed genome‐wide analysis of copy number (CNVs) in 166 schizophrenia subjects 52 psychiatrically healthy controls. First, overall CNV characteristics were compared between cases The only statistically significant finding was deletions comprised greater proportion CNVs cases. High interest then...
Abstract Schizophrenia is a neurodevelopmental psychiatric disorder characterized by variety of structural brain abnormalities that appear to progress across the course illness. also highly heritable, and one gene has emerged as possible susceptibility factor G72 . influences development activity an as‐yet unclear mechanism, multiple studies have reported associations between schizophrenia. We were interested in linking these domains investigation determining whether rate longitudinal...
Childhood-onset schizophrenia is rare, comprising 1% of known cases. Here, we report a patient with childhood-onset who has three large chromosomal abnormalities: an inherited 2.2 Mb deletion chromosome 3p12.2-p12.1, de novo 16.7 duplication 16q22.3-24.3, and 43 Xq23-q28.
Latanoprost is a common glaucoma medication. Here, we study longitudinal effects of sustained latanoprost treatment on intraocular pressure (IOP) in C57BL/6J mice, as well two potential side-effects, changes iris pigmentation and central corneal thickness (CCT). Male mice were treated daily for 16 weeks with latanoprost. Control the same schedule preservative used latanoprost, benzalkonium chloride (BAK), or handled, without ocular treatments. IOP CCT studied at pre-treatment, 2 "early" time...