Tag: Synapse

Faraone, S. V. et al. Attention-deficit/hyperactivity disorder. Nat. Rev. Dis. Prim. 1, 15020 (2015). Article  Google Scholar  Franke, B. et al. The genetics of attention deficit/hyperactivity disorder in adults, a review. Mol. Psychiatry 17, 960–987 (2012). Article  CAS  Google Scholar  Dalsgaard, S., Leckman, J. F., Mortensen, P. B., Nielsen, H….

Method overview For all presentations, we call the genetic effects on GWAS phenotypes ‘phenotypic effects’ and the effect of gene expression the ‘eQTL effect’. TWAS was originally developed to integrate eQTL and GWAS datasets derived from matched ancestries5. Specifically, it first builds gene expression prediction models using eQTL datasets that…

NEW YORK — Researchers have developed a new approach for transcriptome-wide association analyses that incorporates multi-ancestry data, which they applied to uncover additional genes associated with smoking-related behaviors and suggest new drugs to treat smoking addiction. Transcriptome-wide association studies (TWAS) generally rely on genome-wide association studies and expression quantitative trait…

In a recent study published in Cell, researchers studied the social relevance of G protein-coupled receptor (GPCR) Mrgprb4-lineage touch neurons in sexual touch and receptivity. Study: Touch neurons underlying dopaminergic pleasurable touch and sexual receptivity. Image Credit: Master1305/Shutterstock Background The sensation of a pleasurable touch is initiated by mechanical, electric…

15 Jan 2023 Part 1 of 2The year 2022 was a turning point in Alzheimer’s research. It began with the Aduhelm debacle fresh on people’s mind. It ended with reassurance that amyloid removal indeed helps people with the disease, when lecanemab’s Phase 3 data showed a slowing of cognitive decline….

Reese D, Drapeau P. Neurite growth patterns leading to functional synapses in an identified embryonic neuron. J Neurosci: Off J Soc Neurosci. 1998;18:5652–62. Article  CAS  Google Scholar  Yi G, Wang J, Wei X, Deng B. Dendritic properties control energy efficiency of action potentials in cortical pyramidal cells. Front Cell Neurosci….

Changes in the structure of 76 proteins in the cerebrospinal fluid (CSF) of people with Parkinson’s disease were seen when compared with those of healthy individuals, a study reported. Its researchers believe their work is the first to look at protein structure — rather than abundance — to identify potential new…

The heterogeneity of GABAergic neurons in human, macaque, mouse, and pig To perform a cross-species comparative study of the GABAergic neurons, we collected the snRNA-seq datasets of the cerebral cortex for human10,11, macaque12,13, mouse14,15, and pig16. After cell-type annotation and filtering out the excitatory neurons and non-neurons, the GABAergic neurons…

Gillespie, C. F., Phifer, J., Bradley, B. & Ressler, K. J. Risk and resilience: genetic and environmental influences on development of the stress response. Depress Anxiety 26, 984–992 (2009). CAS  PubMed  PubMed Central  Article  Google Scholar  Silveira, P. P. et al. Cumulative prenatal exposure to adversity reveals associations with a…

Schizophrenia Working Group of the Psychiatric Genomics Consortium. Biological insights from 108 schizophrenia-associated genetic loci. Nature 511, 421–427 (2014). PubMed Central  Article  CAS  Google Scholar  Visscher, P. M. et al. 10 years of GWAS discovery: biology, function, and translation. Am. J. Hum. Genet. 101, 5–22 (2017). CAS  PubMed  PubMed Central …

Long non-coding RNAs (lncRNAs) are a class of RNAs that do not code for proteins and are typically greater than 200 nucleotides in length. Studies have shown that lncRNAs are quite complex in function and play an important role in various biological processes such as development, differentiation, proliferation, metastasis, apoptosis,…

08 Apr 2022 What makes tau toxic? In the March 24 Nature Structural & Molecular Biology, researchers led by Keqiang Ye at Shenzhen Institute of Advanced Technology, China, suggest a new culprit, a norepinephrine metabolite known as DOPEGAL, which is produced only in the locus coeruleus (LC). The authors found…

Hallam, S. J., Goncharov, A., McEwen, J., Baran, R. & Jin, Y. Syd-1, a presynaptic protein with PDZ, C2 and rhoGAP-like domains specifies axon identity in C. elegans. Nat. Neurosci. 5, 1137–1146 (2002). CAS  PubMed  Google Scholar  Xu, Y. & Quinn, C. C. SYD-1 promotes multiple developmental steps leading to…

Workflow Platforms for Systems Genetics eQTL Platforms eQTL Viewer Mouse Genome Informatics: Phenotypes, Alleles & Disease Models PhenoGen Informatics (CO U) eXtensible Genotype And Phenotype platform (XGAP) MOLGENIS & MetaNetwork, Swertz & Jansen, U Groningen Weighted Gene Co-expression Network Analysis (WGCNA), Horvath, UCLA iPlant Sage Bionetworks Repository: Synapse GenomeSpace Institute…

Pyridox(am)ine 5′-phosphate oxidase (PNPO; Enzyme Commission Number 1.4.3.5) is a rate-limiting enzyme in the synthesis of vitamin B6 (VB6) (1). Mutations in PNPO can cause neonatal epileptic encephalopathy, a devastating disease that usually leads to death if untreated (2). Recently, PNPO mutations have also been reported in patients with infantile…

Significance The collection of large amounts of whole-genome sequencing data allowed for identification of mutational signatures, which are characteristic combinations of substitutions in the context of neighboring bases. The clinical significance of these mutational signatures is still largely unknown. In neuroblastoma, we showed that high levels of cytosine > adenine…