Adriana Lori
A5052748790- BRCA gene mutations in cancer
- Stress Responses and Cortisol
- Tryptophan and brain disorders
- Genetic Associations and Epidemiology
- Epigenetics and DNA Methylation
- Bioinformatics and Genomic Networks
- Nutrition, Genetics, and Disease
- Health, Environment, Cognitive Aging
- Genetics and Neurodevelopmental Disorders
- Neuroendocrine regulation and behavior
- Posttraumatic Stress Disorder Research
- Resilience and Mental Health
- Migration, Health and Trauma
- MicroRNA in disease regulation
- Birth, Development, and Health
- DNA Repair Mechanisms
- Evolutionary Psychology and Human Behavior
- Adipose Tissue and Metabolism
- Metabolomics and Mass Spectrometry Studies
- Suicide and Self-Harm Studies
- Cancer-related molecular mechanisms research
- Child Abuse and Trauma
- Substance Abuse Treatment and Outcomes
- Genomics and Rare Diseases
- Cystic Fibrosis Research Advances
American Cancer Society
2022-2025
Emory University
2016-2025
VA Connecticut Healthcare System
2025
Atlanta VA Medical Center
2023
Czech Academy of Sciences
2023
Czech Academy of Sciences, Institute of Molecular Genetics
2023
National Cancer Centre Singapore
2023
Charles University
2023
General University Hospital in Prague
2023
Universitat Autònoma de Barcelona
2022
Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are major source disability social economic burden. Both have substantial genetic etiology, partially shared distinct from that related psychiatric disorders.
Several common psychiatric and neurodegenerative diseases share epidemiologic risk; however, whether they pathophysiology is unclear the focus of our investigation. Using 25 GWAS results LD score regression, we find eight significant genetic correlations between diseases. We integrate with human brain transcriptomes (n = 888) proteomes 722) to identify cis- trans- transcripts proteins that are consistent a pleiotropic or causal role in each disease, referred as for brevity. Within disease...
The trachea and esophagus originate from the foregut endoderm during early embryonic development. Their epithelia undergo a series of changes involving differentiation stem cells into unique cell types ultimately forming mature epithelia. In this study, we monitored expression p63 in development examined detail morphogenesis −/− mice. At day 15.5 (E15.5), esophageal tracheobronchial contain two to three layers cells; however, only progenitor express p63. These differentiate first ciliated...
<h3>Rationale</h3> Primary ciliary dyskinesia (PCD) is an autosomal recessive, genetically heterogeneous disorder characterised by oto-sino-pulmonary disease and situs abnormalities (Kartagener syndrome) due to abnormal structure and/or function of cilia. Most patients currently recognised have PCD ultrastructural defects cilia; however, some clinical manifestations low levels nasal nitric oxide, but normal ultrastructure, including a few with biallelic mutations in dynein axonemal heavy...
The neuropeptides oxytocin and vasopressin are evolutionarily conserved regulators of social perception behavior. Evidence is building that they critically involved in the development recognition skills within rodent species, primates, humans. We investigated whether common polymorphisms genes encoding 1a receptors influence memory for faces. Our sample comprised 198 families, from United Kingdom Finland, whom a single child had been diagnosed with high-functioning autism. Previous research...
Primary ciliary dyskinesia (PCD) is a rare, usually autosomal recessive, genetic disorder characterized by dysfunction, sino-pulmonary disease, and situs inversus. Disease-causing mutations have been reported in DNAI1 DNAH5 encoding outer dynein arm (ODA) proteins of cilia.We analyzed to identify disease-causing PCD determine if the previously IVS1+2_3insT (219+3insT) mutation represents "founder" or "hot spot" mutation.Patients with from 179 unrelated families were studied. Exclusion...
Airway epithelial stem cells are not well characterized. To examine clonal growth potential, we diluted single, viable B6.129S7-Gtrosa26 (Rosa26) mouse tracheal that constitutively express -galactosidase into non-Rosa26 in an air-liquid interface cell culture model; 1.7% of the formed colonies varying size, and, on average, 0.1% large colonies. Thus only a small subset displayed progenitorial capacity suggestive or early transient amplifying cells. Prior studies identified with high keratin...
Single-nucleotide polymorphisms (SNPs) in CACNA1C, the α1C subunit of voltage-gated L-type calcium channel Cav1.2, rank among most consistent and replicable genetics findings psychiatry have been associated with schizophrenia, bipolar disorder major depression. However, genetic variants complex diseases often only confer a marginal increase disease risk, which is additionally influenced by environment. Here we show that embryonic deletion Cacna1c forebrain glutamatergic neurons promotes...
Background Postpartum depression (PPD) affects approximately 13% of women and has a negative impact on mother infant, hence reliable biological tests for early detection PPD are essential. We aimed to identify robust predictive biomarkers using peripheral blood gene expression profiles in hypothesis-free genome-wide study high-risk, longitudinal cohort. Method performed association discovery cohort comprising 62 with psychopathology. Gene hormones were measured the first third pregnancy...
Post-traumatic stress disorder (PTSD) impacts many veterans and active duty soldiers, but diagnosis can be problematic due to biases in self-disclosure of symptoms, stigma within military populations, limitations identifying those at risk. Prior studies suggest that PTSD may a systemic illness, affecting not just the brain, entire body. Therefore, disease signals likely span multiple biological domains, including genes, proteins, cells, tissues, organism-level physiological changes....
Abstract Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions encountered in medical practice. A recent landmark SCZ study of protein-coding regions genome identified causal role for ten genes concentration rare variant signals evolutionarily constrained 1 . This study—and other large-scale human genetics studies—was mainly composed individuals European (EUR) ancestry, generalizability findings non-EUR populations remains unclear. To address this gap, we...
Intranasal oxytocin (OT) can modulate social-emotional functioning and related brain activity in humans. Consequently, OT has been discussed as a potential treatment for psychiatric disorders involving social behavioral deficits. However, effects are often heterogeneous across individuals. Here we explore individual differences on the neural response to cooperation function of rs53576 polymorphism receptor gene (OXTR). Previously, conducted double-blind, placebo-controlled study which...
Abstract DICER1 is an enzyme that generates mature microRNAs (miRNAs), which regulate gene expression post-transcriptionally in brain and other tissues involved synaptic maturation plasticity. Here, through genome-wide differential survey of post-traumatic stress disorder (PTSD) with comorbid depression (PTSD&Dep), we find blood significantly reduced cases versus controls, replicate this two independent cohorts. Our follow-up studies lower associated increased amygdala activation to...
Although evolution has shaped human infant crying and the corresponding response from caregivers, there is marked variation in paternal involvement caretaking behavior, highlighting importance of understanding neurobiology supporting optimal responses to cries. We explored neural cries fathers children aged 1–2, its relationship with hormone levels, androgen receptor (AR) gene, parental attitudes behavior. number AR CAG trinucleotide repeats was positively correlated activity brain regions...
Post-traumatic stress disorder (PTSD) develops in only some people following trauma exposure, but the mechanisms differentially explaining risk versus resilience remain largely unknown. PTSD is heritable candidate gene studies and genome-wide association (GWAS) have identified a modest number of genes that reliably contribute to PTSD. New gene-based methods may help identify additional increase for development or severity. We applied testing GWAS data from Grady Trauma Project (GTP),...
Abstract Late-life depression is associated with an increased risk for dementia but we have limited knowledge of the molecular mechanisms underlying this association. Here investigated whether brain microRNAs, important posttranscriptional regulators gene expression, contribute to depressive symptoms were assessed annually in 300 participants Religious Orders Study and Rush Memory Aging Project a mean 7 years. Participants underwent annual cognitive testing, clinical assessment status,...
To reveal post-traumatic stress disorder (PTSD) genetic risk influences on tissue-specific gene expression, we use brain and non-brain transcriptomic imputation. We impute genetically regulated expression (GReX) in 29,539 PTSD cases 166,145 controls from 70 ancestry-specific cohorts identify 18 significant GReX-PTSD associations corresponding to specific tissue-gene pairs. The results suggest substantial heterogeneity based ancestry, cohort type (military versus civilian), sex. Two...