A5086721650- Down syndrome and intellectual disability research
- Genetics and Neurodevelopmental Disorders
- Neuroscience and Neuropharmacology Research
- Alzheimer's disease research and treatments
- Chronic Disease Management Strategies
- Frailty in Older Adults
- Ion channel regulation and function
- Cerebral Palsy and Movement Disorders
- Nicotinic Acetylcholine Receptors Study
- Ubiquitin and proteasome pathways
- Receptor Mechanisms and Signaling
- ECG Monitoring and Analysis
- Neonatal and fetal brain pathology
- SARS-CoV-2 and COVID-19 Research
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Signaling Pathways in Disease
- Autism Spectrum Disorder Research
- Pain Mechanisms and Treatments
- Vestibular and auditory disorders
- Diabetes Management and Research
- Vaccine Coverage and Hesitancy
- Child Nutrition and Feeding Issues
- Neurotransmitter Receptor Influence on Behavior
- Neuroscience and Neural Engineering
Case Western Reserve University
2016-2025
University School
2019-2022
Fondazione Poliambulanza Istituto Ospedaliero
2021
University Hospitals of Cleveland
2021
Hospital de Niños Superiora Sor María Ludovica
2018
Rainbow Babies & Children's Hospital
2014-2015
Centro Hospitalar de Trás os Montes e Alto Douro
2014
University of Colorado Denver
2004-2012
University of Colorado Anschutz Medical Campus
2009-2011
University of Colorado Health
2004-2008
The effect of Pb 2+ on glutamate receptor activity in rat hippocampal neurons was investigated with a view explaining the cognitive and learning deficits produced by this heavy metal. (2.5–50 μ;M) selectively inhibited N ‐methyl‐D‐aspartate (NMDA)‐induced whole‐cell single‐channel currents concentration‐dependent but voltage‐independent manner, without significantly altering induced either quisqualate or kainate. frequency NMDA‐induced channel activation decreased . Neither glycine (10–100...
BackgroundHealth conditions, immune dysfunction, and premature aging associated with trisomy 21 (Down syndrome, DS) may impact the clinical course of COVID-19.MethodsThe T21RS COVID-19 Initiative launched an international survey for clinicians or caregivers on patients DS. Data collected between April October 2020 (N=1046) were analysed compared UK ISARIC4C hospitalized without DS.FindingsThe mean age DS in was 29 years (SD = 18). Similar to general population, most frequent signs symptoms...
Down syndrome (DS) is the most common genetic cause of intellectual disability. The N-methyl-D-aspartate (NMDA) receptor uncompetitive antagonist, memantine hydrochloride (memantine), has been shown to improve learning/memory and rescue one form hippocampus synaptic plasticity dysfunction in best-studied mouse model DS available, Ts65Dn mouse. Given status as a treatment for Alzheimer's disease (AD) approved by Food Drug Administration, preclinical evidence potential efficacy mice, favorable...
After primary infection, varicella-zoster virus (VZV) establishes latency in neurons of the dorsal root and trigeminal ganglia. Many questions concerning mechanism VZV pathogenesis remain unanswered, due part to strict host tropism inconsistent availability human tissue obtained from autopsies abortions. The recent development induced pluripotent stem (iPS) cells provides great potential for study many diseases. We previously generated iPS skin fibroblasts by introducing four reprogramming...
Adults with Down Syndrome (DS) are at higher risk for severe outcomes of coronavirus disease 2019 (COVID-19) than the general population, but evidence is required to understand risks children DS, which necessary inform COVID-19 shielding advice and vaccination priorities. We aimed determine epidemiological clinical characteristics in DS. Using data from an international survey obtained a range countries control United States, we compared prevalence symptoms medical complications factors...
Abstract Down syndrome (DS) or trisomy 21 (T21) is present in a significant number of children and adults around the world associated with cognitive medical challenges. Through research, T21 Research Society (T21RS), established 2014, unites worldwide community dedicated to understanding impact on biological systems improving quality life people DS across lifespan. T21RS hosts an international conference every two years support collaboration, dissemination, information sharing for this goal....
Abstract Recent genomic sequence annotation suggests that the long arm of human chromosome 21 encodes more than 400 genes. Because there is no evidence to exclude any significant segment 21q from containing genes relevant Down syndrome (DS) cognitive phenotype, all in this entire set must be considered as candidates. Only a subset, however, likely make critical contributions. Determining which these are both major focus biology and step efficient development therapeutics. The subtle...
Down syndrome (DS), caused by trisomy of human chromosome 21 (chr21), is the most common genetic cause intellectual disability. The Ts65Dn mouse model DS trisomic for orthologs 94 chr21-encoded, confirmed protein-coding genes and displays a number behavioral deficits. Recently, mice were shown to be hypersensitive locomotor stimulatory effects high-affinity N-methyl-d-aspartate (NMDA) receptor (NMDAR) channel blocker, MK-801. This consistent with functions several chr21 proteins that are...
The Ts65Dn mouse is the best-studied animal model for Down syndrome. In experiments described here, NMDA-mediated or mGluR-mediated LTD was induced in CA1 region of hippocampal slices from and euploid control mice by bath application 20 µM NMDA 3 min 50 DHPG 5 min, respectively. We found that display exaggerated NMDA-induced, but not mGluR-induced, hippocampus compared with animals. addition, this abnormal level can be pharmacologically rescued receptor antagonist memantine.
Down syndrome (DS) is caused by an extra copy of human chromosome 21 (Hsa21). Although it the most common genetic cause intellectual disability (ID), there are, as yet, no effective pharmacotherapies. The Ts65Dn mouse model DS trisomic for orthologs ∼55% Hsa21 classical protein coding genes. These mice display many features relevant to those seen in DS, including deficits learning and memory (L/M) tasks requiring a functional hippocampus. Recently, N-methyl-D-aspartate (NMDA) receptor...
Abstract Down syndrome (DS) is a genetic disorder caused by trisomy 21 (T21). Over the past two decades, use of mouse models has led to significant advances in understanding mechanisms underlying various phenotypic features and comorbidities secondary T21 even informed design clinical trials aimed at enhancing cognitive abilities persons with DS. In spite its success, this approach been plagued all typical limitations rodent modeling human disorders diseases. Recently, several laboratories...
ABSTRACT Background Health conditions and immune dysfunction associated with trisomy 21 (Down syndrome, DS) may impact the clinical course of COVID-19 once infected by SARS-CoV-2. Methods The T21RS Initiative launched an international survey for clinicians or caregivers/family members on patients DS (N=1046). De-identified data collected between April October 2020 were analysed compared UK ISARIC4C hospitalized without DS. from (ISARIC4C cases=100) matched to a random set controls=400) cases...