A5001548243- DNA Repair Mechanisms
- Glioma Diagnosis and Treatment
- Genomic variations and chromosomal abnormalities
- Neuroblastoma Research and Treatments
- Multiple Myeloma Research and Treatments
- Genetics and Neurodevelopmental Disorders
- SARS-CoV-2 and COVID-19 Research
- Sepsis Diagnosis and Treatment
- RNA and protein synthesis mechanisms
- Epilepsy research and treatment
- RNA modifications and cancer
- Genomics and Rare Diseases
- RNA Research and Splicing
- Microtubule and mitosis dynamics
- Cancer therapeutics and mechanisms
- Chromatin Remodeling and Cancer
- Education Discipline and Inequality
- Cancer-related Molecular Pathways
- Hedgehog Signaling Pathway Studies
- Chronic Lymphocytic Leukemia Research
- Coronary Artery Anomalies
- Cardiovascular Issues in Pregnancy
- Cancer-related gene regulation
- Cocoa and Sweet Potato Agronomy
- Thermal Regulation in Medicine
SUNY Upstate Medical University
2020-2025
Beaumont Health
2023-2024
The Dialogue
2023
Nebraska Medical Center
2019-2020
University of Nebraska Medical Center
2019-2020
Children's Mercy Hospital
2016-2020
University of Louisville
2011-2018
Emory University
2014
Neurological Surgery
2010-2011
Royal Children's Hospital
2006
To accurately define the electroclinical features of absence seizures in children with newly diagnosed, untreated childhood epilepsy (CAE).The authors searched an EEG database for normal new onset epilepsy. Seventy consecutive were classified into IGE syndromes. The clinical and CAE analyzed using video-EEG recordings.The 339 47 CAE. average seizure duration was 9.4 seconds consisted arrest activity, loss awareness, staring, 3-Hz eyelid movements, but there individual variation. Ictal...
Neurite outgrowth is essential for development of the nervous system. Neurotrophins including BDNF are among extracellular signals that regulate neurite outgrowth. The ERK1/2 pathway contributes to intracellular signaling networks transducing pro-neuritic effects BDNF. In nucleolus, RNA polymerase-1 (Pol1)-mediated transcription regulates ribosomal biogenesis, enabling cellular protein synthesis and growth. Hence, we tested possibility Pol1 an effector such as We report Pol1-mediated...
OBJECTIVES: To identify and validate novel COVID-19 subphenotypes with potential heterogenous treatment effects (HTEs) using electronic health record (EHR) data 33 unique biomarkers. DESIGN: Retrospective cohort study of adults presenting for acute care, analysis biomarkers from residual blood collected during routine clinical care. Latent profile (LPA) biomarker EHR identified inpatients, which were validated a separate patients. HTE glucocorticoid use among was evaluated both an adjusted...
Background Previous reports of distal deletions in chromosome 10q patients have described distinct facial features combined with other neurodevelopmental abnormalities, including intellectual disability. However, the association interstitial global developmental delay, musculoskeletal and dysmorphic has not been previously reported. Methods Genetic testing using whole exome sequencing (WES) was performed on three abnormalities features. Sequencing reads were aligned to human genome build...
Background: Fluorescence in situ hybridization (FISH) testing against chromosome 12 centromere (CEN12) is routinely included the work-up of patients with suspected chronic lymphocytic leukemia (CLL) or monoclonal B-cell lymphocytosis (MBL). However, incidental findings can occur and be challenging. Methods: Interphase metaphase FISH analyses various probes, including CEN12 probes from different vendors, conventional cytogenetics were applied. Results: A CLL panel was performed at clinician's...
ABSTRACT Deletions of chromosome 14q32.2 often involve the imprinted region 14, giving rise to paternal or maternal UPD(14)‐like phenotypes. A few individuals with deletions that spare have been reported, significant variability in deletion size and gene involvement. Four patients proximal were gathered from primary authors' clinic through DECIPHER database. Informed consent for inclusion this study was obtained all participants. retrospective chart review performed, medical history records...
The Replication Stress Response (RSR) is a signaling network that recognizes challenges to DNA replication and coordinates diverse repair cell-cycle checkpoint pathways. Gemcitabine nucleoside analogue causes cytotoxicity by inducing blocks. Using synthetic lethal screen of RNAi library nuclear enzymes identify genes when silenced cause gemcitabine sensitization or resistance in human triple-negative breast cancer cells, we identified NIMA (never mitosis gene A)-related kinase 9 (NEK9) as...
Although DNA damaging topoisomerase inhibitors induce apoptosis in developing neurons, their effects on adult neurons have not yet been characterized. We report a blockage of RNA-Polymerase-1-driven transcription and nucleolar stress neocortical rats after intracarotid injection the DNA-topoisomerase-2 inhibitor, etoposide. Intracerebroventricular etoposide induced similar response neonatal rats. In contrast, triggered neuronal neonates, but adults. Nucleolar disruption were also observed...
ARID2 loss‐of‐function is associated with a rare genetic disorder characterized in 14 reported patients to date. encodes member of the SWItch/sucrose non‐fermentable chromatin remodeling complex. Other genes encoding subunits this complex, such as ARID1A , ARID1B and SMARCA2 are mutated association Coffin‐Siris syndrome (CSS) Nicolaides Baraitser (NCBRS) phenotypes. Previously mutations manifested clinically CSS‐like phenotype including intellectual disability, coarsened facial features,...
Abstract Multiple myeloma is a clonal malignancy of plasma cells in the bone marrow. Risk stratification partly based on cytogenetic findings that include abnormalities IGH locus as determined by fluorescence situ hybridization (FISH), such rearrangements result either standard‐risk or high‐risk gene fusions. deletions have been evaluated group multiple patients with respect to cumulative outcomes but provided limited guidance. Whether these potential fusions and thus further stratify...
Abstract Missense variants in TUBB3 have historically been associated with either congenital fibrosis of the extraocular muscles type 3 (CFEOM3) or malformations cortical development (MCD). Until a recent report identified two amino acid substitutions four patients that had clinical features both disorders, pathogenic were thought distinct to respective disorder. Three recurrent de novo Gly71Arg and single patient Gly98Ser substitution blurred MCD CFEOM3 phenotypic distinctions. Here we...
22q11.2 deletion syndrome (22q11DS) is a contiguous gene characterized by highly variable adverse phenotypes which include craniofacial anomalies, cardiovascular malformations, immune deficiency, neonatal hypocalcemia, neurodevelopmental and psychiatric disorders. Low copy repeats (LCR) in the 22q region facilitate an increased rate of non-allelic homologous recombination, leading to deletions duplications that are often de novo origin. Genetic epigenetic interactions between genes within...