Oleg V. Evgrafov
A5059189095- Single-cell and spatial transcriptomics
- RNA Research and Splicing
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Hereditary Neurological Disorders
- Cancer-related molecular mechanisms research
- Genetic Neurodegenerative Diseases
- Epigenetics and DNA Methylation
- Genetic Associations and Epidemiology
- Growth Hormone and Insulin-like Growth Factors
- Sexual Differentiation and Disorders
- Congenital heart defects research
- RNA and protein synthesis mechanisms
- Forensic and Genetic Research
- Gene expression and cancer classification
- Autism Spectrum Disorder Research
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Adipose Tissue and Metabolism
- Race, Genetics, and Society
- Genomics and Chromatin Dynamics
- Mitochondrial Function and Pathology
- Neurogenesis and neuroplasticity mechanisms
- Molecular Biology Techniques and Applications
- Muscle Physiology and Disorders
- Cellular Mechanics and Interactions
SUNY Downstate Health Sciences University
2017-2024
State University of New York
2022-2024
Rutgers, The State University of New Jersey
2023-2024
University of Southern California
2011-2020
Genomic Health (United States)
2019
Los Angeles Medical Center
2018
GTx (United States)
2011
Xiamen University
2011
Southern California University for Professional Studies
2010
New York State Psychiatric Institute
2004-2007
INTRODUCTION The brain is responsible for cognition, behavior, and much of what makes us uniquely human. development the a highly complex process, this process reliant on precise regulation molecular cellular events grounded in spatiotemporal transcriptome. Disruption can lead to neuropsychiatric disorders. RATIONALE regulatory, epigenomic, transcriptomic features human have not been comprehensively compiled across time, regions, or cell types. Understanding etiology disorders requires...
Abstract Short-read sequencing has enabled the de novo assembly of several individual human genomes, but with inherent limitations in characterizing repeat elements. Here we sequence a Chinese HX1 by single-molecule real-time (SMRT) long-read sequencing, construct physical map NanoChannel arrays and generate 2.93 Gb (contig N50: 8.3 Mb, scaffold 22.0 including 39.3 Mb N-bases), together 206 alternative haplotypes. The fully or partially fills 274 (28.4%) N-gaps reference genome GRCh38....
Genes implicated in neuropsychiatric disorders are active human fetal brain, yet difficult to study a longitudinal fashion. We demonstrate that organoids from pluripotent cells model cerebral cortical development on the molecular level before 16 weeks postconception. A multiomics analysis revealed differentially genes and enhancers, with greatest changes occurring at transition stem progenitors. Networks of converging gene enhancer modules were assembled into six four global patterns...
Wilson disease (WD) is an autosomal recessive disorder characterized by toxic accumulation of copper in the liver and subsequently brain other organs.On basis sequence homology to known genes, WD gene (ATP7B) appears be a copper-transporting P-type ATPase.A search for ATP7B mutations patients from five population samples, including 109 North Ameri- can patients, revealed 27 distinct mutations, 18 which are novel.A composite published findings shows missense all exons -except 1-5, encode six...
A missense mutation in the neurofilament light chain gene (NEFL, NF-L) at chromosome 8p21 was recently reported a single Charcot-Marie-Tooth type 2 family (CMT2). This new CMT2 variant is designated CMT2E. The NEFL showed co-segregation with disease phenotype and thus most likely disease-causing mutation. However, possibility that it closely linked rare polymorphism can not be ruled out certainty. We observed novel second CMT family, providing supporting evidence CMT2E caused by mutations...
Schizophrenia is a common, chronic and debilitating neuropsychiatric syndrome affecting tens of millions individuals worldwide. While rare genetic variants play role in the etiology schizophrenia, most currently explained liability within common variation, suggesting that variation predating human diaspora out Africa harbors large fraction variant attributable heritability. However, association studies schizophrenia have concentrated mainly on cohorts European descent. We describe...
Abstract Chromodomain helicase DNA-binding protein 8 ( CHD8 ) was identified as a leading autism spectrum disorder (ASD) candidate gene by whole-exome sequencing and subsequent targeted-sequencing studies. De novo loss-of-function mutations were in 12 individuals with ASD zero controls, accounting for highly significant association. Small interfering RNA-mediated knockdown of human neural progenitor cells followed RNA revealed that insufficiency results altered expression 1715 genes,...
Siberia and Northwestern Russia are home to over 40 culturally linguistically diverse indigenous ethnic groups, yet genetic variation histories of peoples from this region largely uncharacterized. We present deep whole-genome sequencing data (∼38×) 28 individuals belonging 14 distinct populations that region. combined these sets with additional 32 modern-day 46 ancient human genomes reconstruct several Northern Eurasian populations. found Siberian East Asian shared 38% their ancestry a...
The Nrf family of transcription factors plays a critical role in mediating adaptive responses to cellular stress and defends against neurodegeneration, aging, cancer. Here, we report novel for the Caenorhabditis elegans homolog SKN-1 regulating synaptic transmission at neuromuscular junctions (NMJs). Activation SKN-1, either by acute pharmacological treatment with mitochondrial toxin sodium arsenite or mutations that cause constitutive activation, results defects function. Additionally,...
Applying tissue-specific deconvolution of transcriptional networks to identify their master regulators (MRs) in neuropsychiatric disorders has been largely unexplored. Here, using two schizophrenia (SCZ) case-control RNA-seq datasets, one on postmortem dorsolateral prefrontal cortex (DLPFC) and another cultured olfactory neuroepithelium, we deconvolved the identified TCF4 as a top candidate MR that may be dysregulated SCZ. We validated through enrichment analysis TCF4-binding sites induced...
Mutations in the prophet of Pit-1 gene (PROP1) have been shown to be responsible for combined pituitary hormone deficiency (CPHD) with deficiencies growth (GH), Prolactin (Prl), thyroid-stimulating (TSH) and gonadotropins. We previously reported that homozygosity a 2bp deletion exon 2 (296delGA) accounted CPHD three patients from two Russian families. Here we report second mutational hot spot 2. This 149delGA results frame shift leads same serine stop codon change at 109 (S109X). The...
The genetic predisposition to addiction opioids and other substances is transmitted as a complex trait, which investigators are attempting characterize using linkage association. We now report high-density genome-wide study of opioid dependence. ascertained 305 DSM-IV dependent affected sibling pairs from an ethnically mixed population methadone maintained subjects genotyped their DNA Affymetrix 10K v2 arrays. Analysis with MERLIN identified region on chromosome 14q non-parametric lod (NPL)...
Understanding brain function involves improved knowledge about how the genome specifies such a large diversity of neuronal types. Transcriptome analysis single neurons has been previously described using gene expression microarrays. Using high-throughput transcriptome sequencing (RNA-Seq), we have developed method to perform single-neuron RNA-Seq. Following electrophysiology recording from an individual neuron, total RNA was extracted by aspirating cellular contents into fine glass electrode...