A5064945246- Neuroendocrine Tumor Research Advances
- Retinal Development and Disorders
- Neuroblastoma Research and Treatments
- Lung Cancer Research Studies
- Genomics and Phylogenetic Studies
- Glaucoma and retinal disorders
- Hearing, Cochlea, Tinnitus, Genetics
- Genetic and Kidney Cyst Diseases
- Birth, Development, and Health
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Retinal Diseases and Treatments
- Genetic Syndromes and Imprinting
- RNA and protein synthesis mechanisms
- Connexins and lens biology
- Algorithms and Data Compression
- RNA regulation and disease
- Reproductive Physiology in Livestock
- Gene expression and cancer classification
- Hearing Loss and Rehabilitation
- Molecular Biology Techniques and Applications
- RNA Research and Splicing
- Genetics and Neurodevelopmental Disorders
- CRISPR and Genetic Engineering
- interferon and immune responses
University of Iowa
2015-2024
University of Iowa Hospitals and Clinics
2021
Centre for Biomedical Engineering and Physics
2019
University of North Texas Health Science Center
2017
University of North Texas
2017
Max Planck Institute for Heart and Lung Research
2011
Ophthalmology Associates (United States)
2006
Institute of Biophysics and Biomedical Engineering
2006
Howard Hughes Medical Institute
2001-2004
Institute of Bioinformatics
2003
There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into best practices in the areas of sequence data generation, analysis, interpretation reporting. The CLARITY Challenge was designed spur convergence diagnosing genetic disease starting from case history data. DNA samples were obtained three families with heritable disorders genomic donated by platform vendors....
The identification of mutations in genes that cause human diseases has largely been accomplished through the use positional cloning, which relies on linkage mapping. In studies rare diseases, resolution mapping is limited by number available meioses and informative marker density. One recent advance development high-density SNP microarrays for genotyping. arrays overcome low informativity using a large markers to achieve greater coverage at finer resolution. We used microarray genotyping...
The classification of genetic variants represents a major challenge in the post-genome era by virtue their extraordinary number and complexities associated with ascribing clinical impact, especially for disorders exhibiting exceptional phenotypic, genetic, allelic heterogeneity. To address this hearing loss, we have developed Deafness Variation Database (DVD), comprehensive, open-access resource that integrates all available genomic, data together expert curation to generate single each...
The functions of the proteins encoded by Bardet–Biedl syndrome (BBS) genes are unknown. Mutations in these lead to pleiotropic human disorder BBS, which is characterized obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, hypogenitalism. Secondary features include diabetes mellitus hypertension. Recently, it has been suggested that BBS phenotypes result a lack cilia formation or function. In this study, we show mice lacking Bbs4 protein have major...
Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss in developed world. The study a rare mendelian form implicated fibulin genes pathogenesis more forms this disease. We evaluated five large series patients with AMD.
Autism is a severe neurodevelopmental disorder defined by social and communication deficits ritualistic-repetitive behaviors that are detectable in early childhood. The etiology of idiopathic autism strongly genetic, oligogenic transmission likely. first stage two-stage genomic screen for was carried out the Collaborative Linkage Study on individuals affected with from 75 families ascertained through an sib-pair. strongest multipoint results were regions chromosomes 13 7. highest maximum...
We used expression quantitative trait locus mapping in the laboratory rat ( Rattus norvegicus ) to gain a broad perspective of gene regulation mammalian eye and identify genetic variation relevant human disease. Of >31,000 probes represented on an Affymetrix microarray, 18,976 exhibited sufficient signal for reliable analysis at least 2-fold among 120 F 2 rats generated from SR/JrHsd × SHRSP intercross. Genome-wide linkage with 399 markers revealed significant one marker 1,300 (α = 0.001;...
We examined WNT2 as a candidate disease gene for autism the following reasons. First, WNT family of genes influences development numerous organs and systems, including central nervous system. Second, is located in region chromosome 7q31-33 linked to adjacent chromosomal breakpoint an individual with autism. Third, mouse knockout Dvl1, member essential function pathway, exhibits behavioral phenotype characterized primarily by diminished social interaction. screened coding sequence mutations...
We investigated the effect of incorporating information about proband and parental structural language phenotypes into linkage analyses in two regions for which we found highest signals our first-stage affected sibling pair genome screen: chromosomes 13q 7q. were particularly interested following up on chromosome 7q finding light prior reports this region to developmental disorder, since one diagnostic criteria autism is absent or abnormal development. hypothesized that if phenotype...
Next-generation and Sanger sequencing were combined to identify disease-causing USH2A mutations in an adult patient with autosomal recessive RP. Induced pluripotent stem cells (iPSCs), generated from the patient's keratinocytes, differentiated into multi-layer eyecup-like structures features of human retinal precursor cells. The inner layer eyecups contained photoreceptor that expressed markers exhibited axonemes basal bodies characteristic outer segments. Analysis transcripts these revealed...
Mutations in ABCA4 cause Stargardt disease and other blinding autosomal recessive retinal disorders. However, sequencing of the complete coding sequence patients with clinical features sometimes fails to detect one or both mutations. For example, among 208 individuals clear evidence ascertained at a single institution, 28 had only disease-causing allele identified exons splice junctions primary transcript gene. Haplotype analysis these probands revealed 3 haplotypes shared ten families,...
The Shaw-like potassium channel Kv3.1, a delayed rectifier with high threshold of activation, is expressed in the time coding nuclei bird auditory brainstem. In both barn owls and chickens, Kv3.1 mRNA was cochlear nucleus magnocellularis (NM) laminaris (NL). Western blot analysis showed that an antibody raised against synthetic peptide sequence rat (rKv3.1) specifically recognized same 92 kDa protein bands chicken synaptosomal preparations. Immunohistochemical analyses using this anti-rKv3.1...
Proper spatial differentiation of retinal cell types is necessary for normal human vision. Many diseases, such as Best disease and male germ associated kinase (MAK)-associated retinitis pigmentosa, preferentially affect distinct topographic regions the retina. While much known about distribution in retina, molecular components across posterior pole eye has not been well-studied. To investigate regional difference composition ocular tissues, we assessed differential gene expression temporal,...
Abstract Retinal ischemia/reperfusion (I/R) injury is an important cause of visual impairment. However, questions remain on the overall I/R mechanisms responsible for progressive damage to retina. In this study, we used a mouse model and characterized pathogenesis by analyzing temporal changes retinal morphology function associated with in gene expression. Transient ischemia was induced one eye C57BL/6 mice raising intraocular pressure 120 mmHg 60 min followed reperfusion restoring normal...
Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is an autoimmune condition of the eye that sequentially mimics uveitis, retinitis pigmentosa, and proliferative diabetic retinopathy as it progresses to complete blindness. We identified two different missense mutations in CAPN5 gene three ADNIV kindreds. encodes calpain-5, a calcium-activated cysteine protease expressed retinal photoreceptor cells. Both cause mislocalization from cell membrane cytosol, structural modeling...
The prevalence of DFNA8/DFNA12 (DFNA8/12), a type autosomal dominant nonsyndromic hearing loss (ADNSHL), is unknown as comprehensive population-based genetic screening has not been conducted. We therefore completed unbiased for TECTA mutations in Spanish cohort 372 probands from ADNSHL families. Three additional families (Spanish, Belgian, and English) known to be linked DFNA8/12 were also included the screening. In an 835 American families, we preselected 73 based on audiometric data....