7,268 results match your criteria brain transcriptomes

Wired for insight-recent advances in Caenorhabditis elegans neural circuits.

Curr Opin Neurobiol 2021 May 3;69:159-169. Epub 2021 May 3.

Neurobiology Section, University of California San Diego, La Jolla, CA, 92093, USA; Kavli Institute of Brain and Mind, University of California San Diego, La Jolla, CA, 92093, USA. Electronic address:

The completion of Caenorhabditis elegans connectomics four decades ago has long guided mechanistic investigation of neuronal circuits. Recent technological advances in microscopy and computation programs have aided re-examination of this connectomics, expanding our knowledge by both uncovering previously unreported synaptic connections and also generating models for neural networks underlying behaviors. Combining molecular information from single cell transcriptomes with elegant tools for cell-specific manipulation has further enhanced the ability to precisely investigate individual neurons in behaving animals. Read More

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Transcriptome sequencing reveals differential expression of circRNAs in sepsis induced acute respiratory distress syndrome.

Life Sci 2021 May 3:119566. Epub 2021 May 3.

Department of Intensive Care, Guangdong Geriatrics Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, NO.106 Zhongshan Road, Guangzhou 510080, China.

circRNAs play important roles in regulating gene expression at both transcriptional and post transcriptional levels and involve in a variety of human diseases. But up to now, it is still unclear whether circRNAs are involved in the occurrence and development of sepsis induced acute respiratory distress syndrome (ARDS). In the present research, we collected lung tissues of sepsis induced ARDS patients (n = 3) and brain dead patients without ARDS (n = 3). Read More

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Transcriptional Signatures of Synaptic Vesicle Genes Define Myotonic Dystrophy Type I Neurodegeneration.

Neuropathol Appl Neurobiol 2021 May 5. Epub 2021 May 5.

Computational Neuroimaging Group, Biocruces-Bizkaia Health Research Institute, Barakaldo, Spain.

Aim: To delineate the neurogenetic profiles of brain degeneration patterns in Myotonic Dystrophy Type I (DM1).

Methods: In two cohorts of DM1 patients, brain maps of volume loss (VL) and neuropsychological deficits (ND) were intersected to large-scale transcriptome maps provided by the Allen Human Brain Atlas (AHBA). For validation, neuropathological and RNA analyses were performed in a small series of DM1 brain samples. Read More

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Multi-omic analysis elucidates the genetic basis of hydrocephalus.

Cell Rep 2021 May;35(5):109085

Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Data Science Institute, Vanderbilt University, Nashville, TN 37232, USA; Clare Hall, University of Cambridge, Cambridge CB3 9AL, UK; MRC Epidemiology Unit, University of Cambridge, Cambridge CB3 9AL, UK. Electronic address:

We conducted PrediXcan analysis of hydrocephalus risk in ten neurological tissues and whole blood. Decreased expression of MAEL in the brain was significantly associated (Bonferroni-adjusted p < 0.05) with hydrocephalus. Read More

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Construction of a SUMOylation regulator-based prognostic model in low-grade glioma.

J Cell Mol Med 2021 May 5. Epub 2021 May 5.

Department of Stomatology, Shengjing Hospital of China Medical University, Shenyang, China.

Low-grade glioma (LGG) is an intracranial malignant tumour that mainly originates from astrocytes and oligodendrocytes. SUMOylation is one of the post-translational modifications but studies of SUMOylation in LGG is quite limited. Transcriptome data, single nucleotide variant (SNV) data and clinical data of LGG were derived from public databases. Read More

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Downregulation of ARID1B, a tumor-suppressor in the WNT subgroup medulloblastoma, activates multiple oncogenic signaling pathways.

Hum Mol Genet 2021 May 5. Epub 2021 May 5.

Advanced Centre for Treatment, Research & Education in Cancer, Tata Memorial Centre, Kharghar, Navi Mumbai 410210.

Medulloblastoma, a common pediatric malignant brain tumor, consists of four distinct molecular subgroups WNT, SHH, Group 3, and Group 4. Exome sequencing of 11 WNT subgroup medulloblastomas from an Indian cohort identified mutations in several chromatin modifier genes, including genes of the mammalian SWI/SNF complex. The genome of WNT subgroup tumors is known to be stable except for monosomy 6. Read More

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Rewired Pathways and Disrupted Pathway Crosstalk in Schizophrenia Transcriptomes by Multiple Differential Coexpression Methods.

Genes (Basel) 2021 Apr 29;12(5). Epub 2021 Apr 29.

Center for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.

Transcriptomic studies of mental disorders using the human brain tissues have been limited, and gene expression signatures in schizophrenia (SCZ) remain elusive. In this study, we applied three differential co-expression methods to analyze five transcriptomic datasets (three RNA-Seq and two microarray datasets) derived from SCZ and matched normal postmortem brain samples. We aimed to uncover biological pathways where internal correlation structure was rewired or inter-coordination was disrupted in SCZ. Read More

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C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.

J Clin Invest 2021 May 4. Epub 2021 May 4.

Department of Pediatrics, RWTH Aachen University, Aachen, Germany.

Background: Deciphering the function of the many genes previously classified as uncharacterized "open reading frame" (orf) completes our understanding of cell function and its pathophysiology.

Methods: Whole-exome sequencing, yeast 2-hybrid and transcriptome analyses together with molecular characterization are used here to uncover the function of the C2orf69 gene.

Results: We identified loss-of-function mutations in the uncharacterized C2orf69 gene in eight individuals with brain abnormalities involving hypomyelination and microcephaly, liver dysfunction and recurrent autoinflammation. Read More

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Acrolein Induces Systemic Coagulopathy via Autophagy-dependent Secretion of von Willebrand Factor in Mice after Traumatic Brain Injury.

Neurosci Bull 2021 May 3. Epub 2021 May 3.

Department of Neurosurgery, Tangdu Hospital, Fourth Military Medical University, Xi'an, 710038, China.

Traumatic brain injury (TBI)-induced coagulopathy has increasingly been recognized as a significant risk factor for poor outcomes, but the pathogenesis remains poorly understood. In this study, we aimed to investigate the causal role of acrolein, a typical lipid peroxidation product, in TBI-induced coagulopathy, and further explore the underlying molecular mechanisms. We found that the level of plasma acrolein in TBI patients suffering from coagulopathy was higher than that in those without coagulopathy. Read More

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Isolation of Adult Human Astrocyte Populations from Fresh-frozen Cortex using Fluorescence-Activated Nuclei Sorting.

J Vis Exp 2021 Apr 16(170). Epub 2021 Apr 16.

Department of Pathology, Icahn School of Medicine at Mount Sinai; Department of Neuroscience and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai;

The complexity of human astrocytes remains poorly defined in primary human tissue, requiring better tools for their isolation and molecular characterization. Fluorescence-activated nuclei sorting (FANS) can be used to successfully isolate and study human neuronal nuclei (NeuN+) populations from frozen archival tissue, thereby avoiding problems associated with handling fresh tissue. However, efforts to similarly isolate astroglia from the non-neuronal (NeuN-) element are lacking. Read More

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Meta-Analyses of Splicing and Expression Quantitative Trait Loci Identified Susceptibility Genes of Glioma.

Front Genet 2021 15;12:609657. Epub 2021 Apr 15.

Department of Neurology and Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, Los Angeles, CA, United States.

Background: The functions of most glioma risk alleles are unknown. Very few studies had evaluated expression quantitative trait loci (eQTL), and insights of susceptibility genes were limited due to scarcity of available brain tissues. Moreover, no prior study had examined the effect of glioma risk alleles on alternative RNA splicing. Read More

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Sex Differences in Molecular Rhythms in the Human Cortex.

Biol Psychiatry 2021 Mar 8. Epub 2021 Mar 8.

Department of Psychiatry, University of Pittsburgh Medical School, Pittsburgh, Pennsylvania; Translational Neuroscience Program, University of Pittsburgh Medical School, Pittsburgh, Pennsylvania. Electronic address:

Background: Diurnal rhythms in gene expression have been detected in the human brain. Previous studies found that males and females exhibit 24-hour rhythms in known circadian genes, with earlier peak expression in females. Whether there are sex differences in large-scale transcriptional rhythms in the cortex that align with observed sex differences in physiological and behavioral rhythms is currently unknown. Read More

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A missense variant in NDUFA6 confers schizophrenia risk by affecting YY1 binding and NAGA expression.

Mol Psychiatry 2021 Apr 30. Epub 2021 Apr 30.

Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China.

Genome-wide association studies (GWASs) have revealed that genetic variants at the 22q13.2 risk locus were robustly associated with schizophrenia. However, the causal variants at this risk locus and their roles in schizophrenia remain elusive. Read More

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UTMOST, a single and cross-tissue TWAS (Transcriptome Wide Association Study), reveals new ASD (Autism Spectrum Disorder) associated genes.

Transl Psychiatry 2021 Apr 30;11(1):256. Epub 2021 Apr 30.

Grupo de Medicina Xenómica, Center for Research in Molecular Medicine and Chronic Diseases (CiMUS), Universidad de Santiago de Compostela, Santiago de Compostela, Spain.

Autism spectrum disorders (ASD) is a complex neurodevelopmental disorder that may significantly impact on the affected individual's life. Common variation (SNPs) could explain about 50% of ASD heritability. Despite this fact and the large size of the last GWAS meta-analysis, it is believed that hundreds of risk genes in ASD have yet to be discovered. Read More

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Topography of transcriptionally active chromatin in glioblastoma.

Sci Adv 2021 Apr 30;7(18). Epub 2021 Apr 30.

Cancer Science Institute of Singapore, National University of Singapore, 117599, Singapore.

Molecular profiling of the most aggressive brain tumor glioblastoma (GBM) on the basis of gene expression, DNA methylation, and genomic variations advances both cancer research and clinical diagnosis. The enhancer architectures and regulatory circuitries governing tumor-intrinsic transcriptional diversity and subtype identity are still elusive. Here, by mapping H3K27ac deposition, we analyze the active regulatory landscapes across 95 GBM biopsies, 12 normal brain tissues, and 38 cell line counterparts. Read More

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Involvement of glycolysis activation in flatfish sexual size dimorphism: Insights from transcriptomic analyses of Platichthys stellatus and Cynoglossus semilaevis.

Comp Biochem Physiol Part D Genomics Proteomics 2021 Apr 9;39:100832. Epub 2021 Apr 9.

Key Laboratory for Sustainable Development of Marine Fisheries, Ministry of Agriculture, Yellow Sea Fisheries Research Institute, Chinese Academy of Fishery Sciences, Qingdao 266071, China; College of Fisheries and Life Science, Dalian Ocean University, Dalian 116023, China.

The starry flounder (Platichthys stellatus), a flatfish cultured at the margins of the North Pacific, displays an obvious female-biased growth advantage, similar to many other fish species. To reveal the molecular mechanism underlying sexual size dimorphism, a comparative transcriptomic analysis of the somatotropic and reproductive axes was conducted. In total, 156, 67, 3434, and 378 differentially expressed genes (DEGs) between female and male samples were obtained in the brain, liver, gonad, and muscle tissues (q < 0. Read More

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The chromatin accessibility landscape reveals distinct transcriptional regulation in the induction of human primordial germ cell-like cells from pluripotent stem cells.

Stem Cell Reports 2021 Apr 16. Epub 2021 Apr 16.

Department of Developmental Biology, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Bioland Laboratory (Guangzhou Regenerative Medicine and Health Guangdong Laboratory), Guangzhou, Guangdong, China; State Key Laboratory of Organ Failure Research, Department of Developmental Biology, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Key Laboratory of Mental Health of the Ministry of Education, Guangdong-Hong Kong-Macao Greater Bay Area Center for Brain Science and Brain-Inspired Intelligence, Southern Medical University, Guangzhou, Guangdong, China; Department of Obstetrics and Gynecology, Zhujiang Hospital, Southern Medical University, Guangzhou, Guangdong, China; National Clinical Research Center for Kidney Disease, Guangzhou, China. Electronic address:

In vitro induction of human primordial germ cell-like cells (hPGCLCs) provides an ideal platform to recapitulate hPGC development. However, the detailed molecular mechanisms regulating the induction of hPGCLCs remain largely uncharacterized. Here, we profiled the chromatin accessibility and transcriptome dynamics throughout the process of hPGCLC induction. Read More

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Sevoflurane impairs m6A-mediated mRNA translation and leads to fine motor and cognitive deficits.

Cell Biol Toxicol 2021 Apr 29. Epub 2021 Apr 29.

Department of Anesthesiology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Clinical surgical practices have found that children who undergo multiple anesthesia may have an increased risk of deficiencies in cognition and fine motor control. Here, we report that YT521-B homology domain family 1 (YTHDF1), a critical reader protein for N6-methyladenosine-modified mRNA, was significantly downregulated in the prefrontal cortex of young mice after multiple sevoflurane anesthesia exposures. Importantly, sevoflurane led to a decrease in protein synthesis in mouse cortical neurons that was fully rescued by YTHDF1, suggesting that anesthesia may affect early brain development by affecting m6A-dependent mRNA translation. Read More

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Brain Expression Correlates with and in Healthy Subjects and AD Patients.

Cells 2021 Apr 13;10(4). Epub 2021 Apr 13.

Department of Biomedical and Biotechnological Sciences, Human Anatomy and Histology Section, School of Medicine, University of Catania, 95123 Catania, Italy.

Alzheimer's disease is a progressive, devastating, and irreversible brain disorder that, day by day, destroys memory skills and social behavior. Despite this, the number of known genes suitable for discriminating between AD patients is insufficient. Among the genes potentially involved in the development of AD, there are the chitinase-like proteins (CLPs) CHI3L1, CHI3L2, and CHID1. Read More

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Transcryptomic Analysis of Human Brain-Microvascular Endothelial Response to -Pericytes: Cell Orientation Defines Barrier Function.

Cells 2021 Apr 20;10(4). Epub 2021 Apr 20.

Department of Reproductive Endocrinology, University Hospital Zurich, 8952 Schlieren, Switzerland.

Pericytes facilitate blood-brain barrier (BBB) integrity; however, the mechanisms involved remain unclear. Hence, using co-cultures of human cerebral microvascular endothelial cells (ECs) and vascular pericytes (PCs) in different spatial arrangements, as well as PC conditioned media, we investigated the impact of PC-EC orientation and PC-derived soluble factors on EC barrier function. We provide the first evidence that barrier-inducing properties of PCs require basolateral contact with ECs. Read More

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Effect of Neuroprotective Magnesium Sulfate Treatment on Brain Transcription Response to Hypoxia Ischemia in Neonate Mice.

Int J Mol Sci 2021 Apr 20;22(8). Epub 2021 Apr 20.

INSERM-UMR1245, Team 4, Epigenetics and Physiopathology of Neurodevelopmental Brain Lesions, Faculté de Médecine et de Pharmacie, Normandie Université Rouen, 22 Boulevard Gambetta, 76183 Rouen, France.

MgSO is widely used in the prevention of preterm neurological disabilities but its modes of action remain poorly established. We used a co-hybridization approach using the transcriptome in 5-day old mice treated with a single dose of MgSO (600 mg/kg), and/or exposed to hypoxia-ischemia (HI). The transcription of hundreds of genes was altered in all the groups. Read More

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Pan-Cancer Analysis Reveals Distinct Metabolic Reprogramming in Different Epithelial-Mesenchymal Transition Activity States.

Cancers (Basel) 2021 Apr 8;13(8). Epub 2021 Apr 8.

Department of Biomedical Systems Informatics, Yonsei University College of Medicine, Seoul 03722, Korea.

Epithelial-mesenchymal transition (EMT) is critical for cancer development, invasion, and metastasis. Its activity influences metabolic reprogramming, tumor aggressiveness, and patient survival. Abnormal tumor metabolism has been identified as a cancer hallmark and is considered a potential therapeutic target. Read More

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Transcriptomic Expression of AMPA Receptor Subunits and their Auxiliary Proteins in the Human Brain.

Neurosci Lett 2021 Apr 26:135938. Epub 2021 Apr 26.

Department of Neurology, Mitchell Center for Neurodegenerative Diseases, School of Medicine, University of Texas Medical Branch, USA. Electronic address:

Receptors to glutamate of the AMPA type (AMPARs) serve as the major gates of excitation in the human brain, where they participate in fundamental processes underlying perception, cognition and movement. Due to their central role in brain function, dysregulation of these receptors has been implicated in neuropathological states associated with a large variety of diseases that manifest with abnormal behaviors. The participation of functional abnormalities of AMPARs in brain disorders is strongly supported by genomic, transcriptomic and proteomic studies. Read More

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Genome-wide CRISPR screens reveal synthetic lethal interaction between CREBBP and EP300 in diffuse large B-cell lymphoma.

Cell Death Dis 2021 Apr 28;12(5):419. Epub 2021 Apr 28.

Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.

Diffuse large B-cell lymphoma (DLBCL) is the most common type of aggressive lymphoid malignancy and a highly heterogeneous disease. In this study, we performed whole-genome and transcriptome sequencing, and a genome-wide CRISPR-Cas9-knockout screen to study an activated B-cell-like DLBCL cell line (RC-K8). We identified a distinct pattern of genetic essentialities in RC-K8, including a dependency on CREBBP and MDM2. Read More

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Proteomics and Transcriptomics of the Hippocampus and Cortex in SUDEP and High-Risk SUDEP Patients.

Neurology 2021 Apr 28. Epub 2021 Apr 28.

Comprehensive Epilepsy Center, NYU School of Medicine, New York, NY, USA.

Objective: To identify the molecular signaling pathways underlying sudden unexpected death in epilepsy (SUDEP) and high-risk SUDEP compared to epilepsy control patients.

Methods: For proteomics analyses, we evaluated the hippocampus and frontal cortex from microdissected post-mortem brain tissue of 12 SUDEP and 14 non-SUDEP epilepsy patients. For transcriptomics analyses, we evaluated hippocampus and temporal cortex surgical brain tissue from mesial temporal lobe epilepsy (MTLE) patients: 6 low-risk and 8 high-risk SUDEP as determined by a short (< 50 seconds) or prolonged (≥ 50 seconds) postictal generalized EEG suppression (PGES) that may indicate severely depressed brain activity impairing respiration, arousal, and protective reflexes. Read More

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The hypothalamus predates the origin of vertebrates.

Sci Adv 2021 Apr 28;7(18). Epub 2021 Apr 28.

Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ, USA.

The hypothalamus coordinates neuroendocrine functions in vertebrates. To explore its evolutionary origin, we describe integrated transcriptome/connectome brain maps for swimming tadpoles of , which serves as an approximation of the ancestral proto-vertebrate. This map features several cell types related to different regions of the vertebrate hypothalamus, including the mammillary nucleus, the arcuate nucleus, and magnocellular neurons. Read More

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Shared genetic etiology and causality between body fat percentage and cardiovascular diseases: a large-scale genome-wide cross-trait analysis.

BMC Med 2021 Apr 29;19(1):100. Epub 2021 Apr 29.

Department of Epidemiology & Biostatistics, School of Public Health, Peking University, China. 38 Xueyuan Road, Beijing, 100191, China.

Background: Accumulating evidences have suggested that high body fat percentage (BF%) often occurs in parallel with cardiovascular diseases (CVDs), implying a common etiology between them. However, the shared genetic etiology underlying BF% and CVDs remains unclear.

Methods: Using large-scale genome-wide association study (GWAS) data, we investigated shared genetics between BF% (N = 100,716) and 10 CVD-related traits (n = 6968-977,323) with linkage disequilibrium score regression, multi-trait analysis of GWAS, and transcriptome-wide association analysis, and evaluated causal associations using Mendelian randomization. Read More

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Age-dependent instability of mature neuronal fate in induced neurons from Alzheimer's patients.

Cell Stem Cell 2021 Apr 21. Epub 2021 Apr 21.

Laboratory of Genetics, The Salk Institute for Biological Studies, La Jolla, CA, USA. Electronic address:

Sporadic Alzheimer's disease (AD) exclusively affects elderly people. Using direct conversion of AD patient fibroblasts into induced neurons (iNs), we generated an age-equivalent neuronal model. AD patient-derived iNs exhibit strong neuronal transcriptome signatures characterized by downregulation of mature neuronal properties and upregulation of immature and progenitor-like signaling pathways. Read More

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5-hydroxymethylcytosine is dynamically regulated during forebrain organoid development and aberrantly altered in Alzheimer's disease.

Cell Rep 2021 Apr;35(4):109042

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. Electronic address:

5-hydroxymethylcytosine (5hmC) undergoes dynamic changes during mammalian brain development, and its dysregulation is associated with Alzheimer's disease (AD). The dynamics of 5hmC during early human brain development and how they contribute to AD pathologies remain largely unexplored. We generate 5hmC and transcriptome profiles encompassing several developmental time points of healthy forebrain organoids and organoids derived from several familial AD patients. Read More

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Transcriptional signatures in prefrontal cortex confer vulnerability versus resilience to food and cocaine addiction-like behavior.

Sci Rep 2021 Apr 27;11(1):9076. Epub 2021 Apr 27.

Institute of Physiological Chemistry, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.

Addiction is a chronic relapsing brain disease characterized by compulsive reward-seeking despite harmful consequences. The mechanisms underlying addiction are orchestrated by transcriptional reprogramming in the reward system of vulnerable subjects. This study aims at revealing gene expression alterations across different types of addiction. Read More

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