A5081542125- Genetics and Neurodevelopmental Disorders
- Alzheimer's disease research and treatments
- Genetic Associations and Epidemiology
- Neuroinflammation and Neurodegeneration Mechanisms
- Autism Spectrum Disorder Research
- CAR-T cell therapy research
- Epigenetics and DNA Methylation
- Liver Disease Diagnosis and Treatment
- Phagocytosis and Immune Regulation
- Genomic variations and chromosomal abnormalities
- Immunotherapy and Immune Responses
- RNA modifications and cancer
- RNA regulation and disease
- Genomics and Rare Diseases
- Cell Adhesion Molecules Research
- Neurological diseases and metabolism
- Forensic and Genetic Research
- RNA Research and Splicing
- Hemoglobinopathies and Related Disorders
- Health, Environment, Cognitive Aging
- Olfactory and Sensory Function Studies
- Folate and B Vitamins Research
- Immune cells in cancer
- Iron Metabolism and Disorders
- Liver Diseases and Immunity
Translational Genomics Research Institute
2016-2025
Alzheimer's Association
2020-2024
Arizona Alzheimer’s Consortium
2020-2024
City Of Hope National Medical Center
2022-2024
City of Hope
2022-2024
Phoenix (United States)
2023-2024
Northwestern University
2023
Università Campus Bio-Medico
2014-2023
University of Cagliari
2004-2014
Cluster in Biomedicine
2012-2014
The search for a method that utilizes biological information to predict humans' place of origin has occupied scientists millennia. Over the past four decades, have employed genetic data in an effort achieve this goal but with limited success. While biogeographical algorithms using next-generation sequencing achieved accuracy 700 km Europe, they were inaccurate elsewhere. Here we describe Geographic Population Structure (GPS) algorithm and demonstrate its three sets 40,000-130,000 SNPs. GPS...
Precociously disseminated cancer cells may seed quiescent sites of future metastasis if they can protect themselves from immune surveillance. However, there is little knowledge about how such might be achieved. Here, we present evidence that prostate stem-like (CSC) found in histopathologically negative draining lymph nodes (PDLN) mice harboring oncogene-driven intraepithelial neoplasia (mPIN). PDLN-derived CSCs were phenotypically and functionally identical to CSC obtained mPIN lesions, but...
Abstract Background Herbicides are environmental contaminants that have gained much attention due to the potential hazards they pose human health. Glyphosate, active ingredient in many commercial herbicides, is most heavily applied herbicide worldwide. The recent rise glyphosate application corn and soy crops correlates positively with increased death rates Alzheimer’s disease other neurodegenerative disorders. Glyphosate has been shown cross blood–brain barrier vitro models, but yet be...
We used Illumina Human HT-12 v4 arrays to compare RNA expression of middle temporal gyrus (MTG; BA21) in Alzheimer's disease (AD = 97) and non-demented controls (ND 98). A total 938 transcripts were highly differentially expressed (adj p < 0.01; log2 FC ≥ |0.500|, with 411 overexpressed 527 underexpressed AD. Our results correlated profiling neurons from AD ND obtained by laser capture microscopy MTG an independent dataset (log2 correlation: r 0.504; 2.2e-16). Additionally, selected effects...
Brains of 42 COVID-19 decedents and 107 non-COVID-19 controls were studied. RT-PCR screening 16 regions from 20 autopsies found SARS-CoV-2 E gene viral sequences in 7 (2.5% 320 samples), concentrated 4/20 subjects (20%). Additional olfactory bulb (OB), amygdala (AMY) entorhinal area for E, N1, N2, RNA-dependent RNA polymerase, S detected one or more these OB 8/21 (38%). It is uncertain whether represent viable virus. Significant histopathology was limited to 2/42 cases (4.8%), with a large...
The current study employed next-generation RNA sequencing to examine gene expression differences related brain aging, cognitive decline, and hippocampal subfields. Young aged rats were trained on a spatial episodic memory task. Hippocampal regions CA1, CA3, the dentate gyrus isolated. Poly-A mRNA was examined using two different platforms, Illumina, Ion Proton. Illumina platform used generate seed lists of genes that statistically differentially expressed across regions, ages, or in...
Choline deficiency causes hepatic fat accumulation, and is associated with a higher risk of nonalcoholic fatty liver disease (NAFLD) more advanced NAFLD-related fibrosis. Reduced expression phosphatidylethanolamine N-methyltransferase (PEMT), which catalyzes the production phosphatidylcholine, steatosis, inflammation, fibrosis in mice. In humans, common PEMT variants impair phosphatidylcholine synthesis, are NAFLD risk. We investigated large cohort patients representing spectrum NAFLD,...
Rare and common CNVs can contribute to the etiology of neurodevelopmental disorders. One recurrent genomic aberrations associated with these phenotypes proposed as a susceptibility locus is 15q11.2 BP1-BP2 CNV encompassing TUBGCP5, CYFIP1, NIPA2, NIPA1. Characterizing by array-CGH cohort 243 families various disorders, we identified five patients carrying duplication one deletion. All were confirmed qPCR inherited, except for where parents not available. The phenotypic spectrum carriers was...
Achaete-scute homolog 1 gene (ASCL1) is a classifier for the proneural (PN) transcriptional subgroup of glioblastoma (GBM) that has relevant role in neuronal-like differentiation GBM cancer stem cells (CSCs) through activation PN signature. Besides prototypical ASCL1 target genes, molecular effectors mediating function regulating and, most relevantly, specification are currently unknown. Here we report not only promotes acquisition phenotype CSCs by inducing glial-to-neuronal lineage switch...
Factors governing the development of liver fibrosis in nonalcoholic steatohepatitis (NASH) are only partially understood. We recently identified adipocyte enhancer binding protein 1 (AEBP1) as a member core set dysregulated fibrosis-specific genes human NASH. Here we sought to investigate relationship between AEBP1 and hepatic fibrosis. confirmed that expression is elevated compared lobular inflammation, steatosis, normal liver, increases with worsening NASH patients. was upregulated...
Frontotemporal lobar degeneration-TDP Type C (TDP-C) is a unique neurodegenerative disease that starts by attacking the anterior temporal lobe leading to language and/or behavioral syndromes. Current literature on genetic associations of TDP-C, which we have reviewed here, uneven and lacks discernible corpus robust findings. In our study, completed genome wide hypothesis-free analyses utilizing artificial Intelligence (AI) identify rare common variants associated with TDP-C. We then...
microRNAs (miRNAs) are short noncoding RNAs, which regulate gene expression post-transcriptionally and play crucial roles in relevant biological pathological processes. Here, we investigated the putative role of miRNAs modulating tumor-initiating potential mouse medulloblastoma (MB)-derived cancer stem cells (CSCs). We first subjected bona fide highly tumorigenic (HT) CSCs as well lowly MB normal neural to miRNA profiling, identified a HT CSC-specific signature. Next, by cross-checking CSC...
Galectin-3 (Gal-3) is an extracellular matrix glycan-binding protein with several immunosuppressive and pro-tumor functions. The role of in cancer stem-like cells (CSCs) poorly investigated. Here, we show that prostate CSCs also colonizing prostate-draining lymph nodes transgenic adenocarcinoma the mouse (TRAMP) mice overexpress Gal-3. Gal-3 contributes to CSC-mediated immune suppression because either silencing CSCs, or co-culture T presence inhibitor N-Acetyl-D-lactosamine rescued cell...
Multiple system atrophy (MSA) is a rare adult-onset neurodegenerative disease of unknown cause, with no effective therapeutic options, and cure. Limited work to date has attempted characterize the transcriptional changes associated disease, which presents as either predominating parkinsonian (MSA-P) or cerebellar (MSC-C) symptoms. We report here results RNA expression profiling white matter (CWM) tissue from two independent cohorts MSA patients (n = 66) healthy controls (HC; n 66). samples...
ABSTRACT Astrocytes have multiple crucial roles, including maintaining brain homeostasis and synaptic function, performing phagocytic clearance responding to injury repair. It has been suggested that astrocyte performance is progressively impaired with aging, leading imbalances in the brain’s internal milieu eventually impact neuronal function leads neurodegeneration. Until now most of evidence astrocytic dysfunction aging come from experiments done whole tissue homogenates, astrocytes...