Snapshot: Autism and the Synapse
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Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients
G C A T T A C G G C A T genes Article Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients Bénédicte Demeer 1,2,3,4 , Nicole Revencu 1,5, Raphael Helaers 1 , Cica Gbaguidi 6, Stéphanie Dakpe 3,4,6 , Geneviève François 7, Bernard Devauchelle 3,4,6,Bénédicte Bayet 8 and Miikka Vikkula 1,* 1 Human Molecular Genetics, de Duve Institute, University of Louvain, 1200 Brussels, Belgium; [email protected] (B.D.); [email protected] (N.R.); [email protected] (R.H.) 2 Center for Human Genetics, CLAD Nord de France, CHU Amiens-Picardie, 80054 Amiens, France 3 Université Picardie Jules Verne, EA CHIMERE, EA 7516, 80054 Amiens, France; [email protected] (S.D.); [email protected] (B.D.) 4 Facing Faces Institute, 80054 Amiens, France 5 Center for Human Genetics, Cliniques universitaires Saint-Luc, University of Louvain, 1200 Brussels, Belgium 6 Department of Maxillofacial Surgery and Stomatology, Centre de Compétence Fentes et Malformations Faciales (MAFACE), CHU Amiens-Picardie, 80054 Amiens, France; [email protected] 7 Department of Pediatrics, Cliniques Universitaires Saint-Luc, University of Louvain, 1200 Brussels, Belgium; [email protected] 8 Centre Labiopalatin, Division of Plastic Surgery, Cliniques Universitaires Saint-Luc, University of Louvain, 1200 Brussels, Belgium; [email protected] * Correspondence: [email protected]; Tel.: +32-2-764-7490 Received: 6 September 2019; Accepted: 19 October 2019; Published: 22 October 2019 Abstract: Oral clefts are composed of cleft of the lip, cleft of the lip and palate, or cleft of the palate, and they are associated with a wide range of expression and severity. -
Chr21 Protein-Protein Interactions: Enrichment in Products Involved in Intellectual Disabilities, Autism and Late Onset Alzheimer Disease
bioRxiv preprint doi: https://doi.org/10.1101/2019.12.11.872606; this version posted December 12, 2019. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. Chr21 protein-protein interactions: enrichment in products involved in intellectual disabilities, autism and Late Onset Alzheimer Disease Julia Viard1,2*, Yann Loe-Mie1*, Rachel Daudin1, Malik Khelfaoui1, Christine Plancon2, Anne Boland2, Francisco Tejedor3, Richard L. Huganir4, Eunjoon Kim5, Makoto Kinoshita6, Guofa Liu7, Volker Haucke8, Thomas Moncion9, Eugene Yu10, Valérie Hindie9, Henri Bléhaut11, Clotilde Mircher12, Yann Herault13,14,15,16,17, Jean-François Deleuze2, Jean- Christophe Rain9, Michel Simonneau1, 18, 19, 20** and Aude-Marie Lepagnol- Bestel1** 1 Centre Psychiatrie & Neurosciences, INSERM U894, 75014 Paris, France 2 Laboratoire de génomique fonctionnelle, CNG, CEA, Evry 3 Instituto de Neurociencias CSIC-UMH, Universidad Miguel Hernandez-Campus de San Juan 03550 San Juan (Alicante), Spain 4 Department of Neuroscience, The Johns Hopkins University School of Medicine, Baltimore, MD 21205 USA 5 Center for Synaptic Brain Dysfunctions, Institute for Basic Science, Daejeon 34141, Republic of Korea 6 Department of Molecular Biology, Division of Biological Science, Nagoya University Graduate School of Science, Furo, Chikusa, Nagoya, Japan 7 Department of Biological Sciences, University of Toledo, Toledo, OH, 43606, USA 8 Leibniz Forschungsinstitut für Molekulare Pharmakologie -
Clinical Application of Chromosomal Microarray Analysis for Fetuses With
Xu et al. Molecular Cytogenetics (2020) 13:38 https://doi.org/10.1186/s13039-020-00502-5 RESEARCH Open Access Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations Chenyang Xu1†, Yanbao Xiang1†, Xueqin Xu1, Lili Zhou1, Huanzheng Li1, Xueqin Dong1 and Shaohua Tang1,2* Abstract Background: The potential correlations between chromosomal abnormalities and craniofacial malformations (CFMs) remain a challenge in prenatal diagnosis. This study aimed to evaluate 118 fetuses with CFMs by applying chromosomal microarray analysis (CMA) and G-banded chromosome analysis. Results: Of the 118 cases in this study, 39.8% were isolated CFMs (47/118) whereas 60.2% were non-isolated CFMs (71/118). The detection rate of chromosomal abnormalities in non-isolated CFM fetuses was significantly higher than that in isolated CFM fetuses (26/71 vs. 7/47, p = 0.01). Compared to the 16 fetuses (16/104; 15.4%) with pathogenic chromosomal abnormalities detected by karyotype analysis, CMA identified a total of 33 fetuses (33/118; 28.0%) with clinically significant findings. These 33 fetuses included cases with aneuploidy abnormalities (14/118; 11.9%), microdeletion/microduplication syndromes (9/118; 7.6%), and other pathogenic copy number variations (CNVs) only (10/118; 8.5%).We further explored the CNV/phenotype correlation and found a series of clear or suspected dosage-sensitive CFM genes including TBX1, MAPK1, PCYT1A, DLG1, LHX1, SHH, SF3B4, FOXC1, ZIC2, CREBBP, SNRPB, and CSNK2A1. Conclusion: These findings enrich our understanding of the potential causative CNVs and genes in CFMs. Identification of the genetic basis of CFMs contributes to our understanding of their pathogenesis and allows detailed genetic counselling. -
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cells Review Novel Approaches for Identifying the Molecular Background of Schizophrenia Arkadiy K. Golov 1,2,*, Nikolay V. Kondratyev 1 , George P. Kostyuk 3 and Vera E. Golimbet 1 1 Mental Health Research Center, 34 Kashirskoye shosse, 115522 Moscow, Russian; [email protected] (N.V.K.); [email protected] (V.E.G.) 2 Institute of Gene Biology, Russian Academy of Sciences, 34/5 Vavilova Street, 119334 Moscow, Russian 3 Alekseev Psychiatric Clinical Hospital No. 1, 2 Zagorodnoye shosse, 115191 Moscow, Russian; [email protected] * Correspondence: [email protected] Received: 5 November 2019; Accepted: 16 January 2020; Published: 18 January 2020 Abstract: Recent advances in psychiatric genetics have led to the discovery of dozens of genomic loci associated with schizophrenia. However, a gap exists between the detection of genetic associations and understanding the underlying molecular mechanisms. This review describes the basic approaches used in the so-called post-GWAS studies to generate biological interpretation of the existing population genetic data, including both molecular (creation and analysis of knockout animals, exploration of the transcriptional effects of common variants in human brain cells) and computational (fine-mapping of causal variability, gene set enrichment analysis, partitioned heritability analysis) methods. The results of the crucial studies, in which these approaches were used to uncover the molecular and neurobiological basis of the disease, are also reported. Keywords: schizophrenia; GWAS; causal genetic variants; enhancers; brain epigenomics; genome/epigenome editing 1. Introduction Schizophrenia is a severe mental illness that affects between 0.5% and 0.7% of the human population [1]. Both environmental and genetic factors are thought to be involved in its pathogenesis, with genetic factors playing a key role in disease risk, as the heritability of schizophrenia is estimated to be 70–85% [2,3]. -
T Cells + Cytokines in CD8 Activation and Induction of Proinflammatory
Selective Phosphorylation of the Dlg1AB Variant Is Critical for TCR-Induced p38 Activation and Induction of Proinflammatory Cytokines in CD8 + T Cells This information is current as of September 29, 2021. Jillian Crocetti, Oscar Silva, Lisa A. Humphries, Michelle D. Tibbs and M. Carrie Miceli J Immunol 2014; 193:2651-2660; Prepublished online 6 August 2014; doi: 10.4049/jimmunol.1401196 Downloaded from http://www.jimmunol.org/content/193/6/2651 References This article cites 49 articles, 25 of which you can access for free at: http://www.jimmunol.org/ http://www.jimmunol.org/content/193/6/2651.full#ref-list-1 Why The JI? Submit online. • Rapid Reviews! 30 days* from submission to initial decision • No Triage! Every submission reviewed by practicing scientists by guest on September 29, 2021 • Fast Publication! 4 weeks from acceptance to publication *average Subscription Information about subscribing to The Journal of Immunology is online at: http://jimmunol.org/subscription Permissions Submit copyright permission requests at: http://www.aai.org/About/Publications/JI/copyright.html Author Choice Freely available online through The Journal of Immunology Author Choice option Email Alerts Receive free email-alerts when new articles cite this article. Sign up at: http://jimmunol.org/alerts The Journal of Immunology is published twice each month by The American Association of Immunologists, Inc., 1451 Rockville Pike, Suite 650, Rockville, MD 20852 Copyright © 2014 by The American Association of Immunologists, Inc. All rights reserved. Print ISSN: 0022-1767 Online ISSN: 1550-6606. The Journal of Immunology Selective Phosphorylation of the Dlg1AB Variant Is Critical for TCR-Induced p38 Activation and Induction of Proinflammatory Cytokines in CD8+ T Cells Jillian Crocetti,*,1 Oscar Silva,†,1 Lisa A. -
Better Models for Brain Disease NEWS FEATURE Traditional Animal Models Have Had Limited Success Mimicking Mental Illnesses
NEWS FEATURE Better models for brain disease NEWS FEATURE Traditional animal models have had limited success mimicking mental illnesses. Emerging technologies offer the potential for a major model upgrade. Helen H. Shen, Science Writer Starting with just a tiny chunk of skin, neuroscientist Flora Vaccarino tries to unlock mysteries hidden inside the brains of people with autism. By introducing certain genes to the skin cells, the Yale University School of Medicine researcher reprograms them to an embryo-like state, turning them into induced plu- ripotent stem cells (iPSCs); and with two more months of nurturing and tinkering, Vaccarino can guide the cells to develop into small balls of neural tissue akin to miniature human brains. Less than two millimeters across, these “cerebral organoids” don’t look or work exactly like full brains. But they contain many of the same cell types and un- dergo some of the same key developmental pro- cesses as fetal brains. Also key, the cells perfectly match the genetic makeup of the adults and children with autism who donated the original skin samples, allowing Vaccarino’s team to track the very beginnings of their disorder. Human brain tissue usually can’t be collected and studied until after death, and by then, it can be too late to glean important insights. “You don’t get to see the same person’s cells progressing through a series of steps and time points, like we do with these organo- ids,” Vaccarino explains. “The organoids are a very powerful system. You can actually change things and see what the outcome is going to be.” Neurons such as these, derived from the induced pluripotent stem cells of a Parkinson’s Predicting outcomes and, crucially, developing disease patient, are on the forefront of efforts to improve models for brain disease. -
Gill-Chronicles.Pdf
“This is a story about how a compelling theme atracts world-class scientists.” JACK GILL D THE LINDA AND JACK GILL CENTER FOR BIOMOLECUlAR SCIIEN:CE COLLEGE OF ARTS+ SCIEttCES ADDICTION NEURODEGENERATION CENTER for ALS NEURODEVELOPMENT BIOMOLECULAR SCIENCE CHRONICLES, ALZHEIMER’S OBESITY DIRECTOR AND GILL CHAIR GILL CHAIR ANXIETY PAIN Hui-Chen Lu Richard DiMarchi The Linda and Jack Gill Center for Biomolecular Science Indiana University Bloomington AUTISM PARKINSON’S Multidisciplinary Science Building II 702 North Walnut Grove Avenue Bloomington, IN 47405 GILL CHAIR GILL CHAIR CONTACT: Andrea Hohmann Ken Mackie IMMUNE FUNCTION PTSD Phone: 812-856-1930 Fax: 812-856-1359 gillcenter.indiana.edu WRITING INFLAMMATION SCHIZOPHRENIA Elisabeth Andrews GRAPHIC DESIGN GILL CHAIR GILL SCHOLAR Kaye Lee Johnston Dan Tracey Cary Lai PHOTOGRAPHY ITCH SOMATOSENSATION Anna Power Teeter Maximillian Tortoriello Ann Schertz Courtesy Photos MEMORY STRESS COVER IMAGE PROGRAM ADMINISTRATIVE Stephanie Mauthner & MANAGER ASSISTANT Katherine Fisher (Tracey Lab) Trisha Turner Jana England METABOLISM TRAUMATIC BRAIN INJURY 1 A MESSAGE FROM THE EXECUTIVE DEAN OF THE IU COLLEGE OF ARTS AND SCIENCES The Gill Center is a compelling example of what is possible when talented scientists are granted agency to work in community. “To raise new As a synergistic team of neuroscientists, they are questions, new able to combine their knowledge, creativity, and skill to venture far beyond the boundaries of what is possibilities, to known, and return with new insights into the nervous system that could only be found through collective regard old problems effort. Their life-enhancing discoveries belong to all of us, and their wonder, persistence, and desire to create from a new angle, a better world reflect the better angels of our nature. -
Signature Redacted Thesis Supervisor Certified By
Single-Cell Transcriptomics of the Mouse Thalamic Reticular Nucleus by Taibo Li S.B., Massachusetts Institute of Technology (2015) Submitted to the Department of Electrical Engineering and Computer Science in partial fulfillment of the requirements for the degree of Master of Engineering in Electrical Engineering and Computer Science at the MASSACHUSETTS INSTITUTE OF TECHNOLOGY June 2017 @ Massachusetts Institute of Technology 2017. All rights reserved. A uthor ... ..................... Department of Electrical Engineering and Computer Science May 25, 2017 Certified by. 3ignature redacted Guoping Feng Poitras Professor of Neuroscience, MIT Signature redacted Thesis Supervisor Certified by... Kasper Lage Assistant Professor, Harvard Medical School Thesis Supervisor Accepted by . Signature redacted Christopher Terman Chairman, Masters of Engineering Thesis Committee MASSACHUSETTS INSTITUTE 0) OF TECHNOLOGY w AUG 14 2017 LIBRARIES 2 Single-Cell Transcriptomics of the Mouse Thalamic Reticular Nucleus by Taibo Li Submitted to the Department of Electrical Engineering and Computer Science on May 25, 2017, in partial fulfillment of the requirements for the degree of Master of Engineering in Electrical Engineering and Computer Science Abstract The thalamic reticular nucleus (TRN) is strategically located at the interface between the cortex and the thalamus, and plays a key role in regulating thalamo-cortical in- teractions. Current understanding of TRN neurobiology has been limited due to the lack of a comprehensive survey of TRN heterogeneity. In this thesis, I developed an integrative computational framework to analyze the single-nucleus RNA sequencing data of mouse TRN in a data-driven manner. By combining transcriptomic, genetic, and functional proteomic data, I discovered novel insights into the molecular mecha- nisms through which TRN regulates sensory gating, and suggested targeted follow-up experiments to validate these findings. -
LGI1–ADAM22–MAGUK Configures Transsynaptic Nanoalignment for Synaptic Transmission and Epilepsy Prevention
LGI1–ADAM22–MAGUK configures transsynaptic nanoalignment for synaptic transmission and epilepsy prevention Yuko Fukataa,b,1, Xiumin Chenc,d,1, Satomi Chikenb,e, Yoko Hiranoa,f, Atsushi Yamagatag, Hiroki Inahashia, Makoto Sanboh, Hiromi Sanob,e, Teppei Gotoh, Masumi Hirabayashib,h, Hans-Christian Kornaui,j, Harald Prüssi,k, Atsushi Nambub,e, Shuya Fukail, Roger A. Nicollc,d,2, and Masaki Fukataa,b,2 aDivision of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Aichi 444-8787, Japan; bDepartment of Physiological Sciences, School of Life Science, SOKENDAI (The Graduate University for Advanced Studies), Aichi 444-8585, Japan; cDepartment of Cellular and Molecular Pharmacology, University of California, San Francisco, CA 94158; dDepartment of Physiology, University of California, San Francisco, CA 94158; eDivision of System Neurophysiology, Department of System Neuroscience, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Aichi 444-8585, Japan; fDepartment of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan; gLaboratory for Protein Functional and Structural Biology, RIKEN Center for Biosystems Dynamics Research, Kanagawa 230-0045, Japan; hCenter for Genetic Analysis of Behavior, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki 444-8787, Japan; iGerman Center for Neurodegenerative Diseases (DZNE), 10117 Berlin, Germany; jNeuroscience Research Center, Cluster NeuroCure, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany; kDepartment of Neurology and Experimental Neurology, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany; and lDepartment of Chemistry, Graduate School of Science, Kyoto University, 606-8502 Kyoto, Japan Contributed by Roger A. Nicoll, December 1, 2020 (sent for review October 29, 2020; reviewed by David S. -
Dichotomous Parvalbumin Interneuron Populations in Dorsolateral and Dorsomedial Striatum
Dichotomous parvalbumin interneuron populations in dorsolateral and dorsomedial striatum The MIT Faculty has made this article openly available. Please share how this access benefits you. Your story matters. Citation Monteiro, Patricia et al. "Dichotomous parvalbumin interneuron populations in dorsolateral and dorsomedial striatum." Journal of Physiology (August 2018): 3695-3707 © 2018 The Authors and The Physiological Society As Published http://dx.doi.org/10.1113/jp275936 Publisher Wiley Version Author's final manuscript Citable link https://hdl.handle.net/1721.1/126428 Terms of Use Creative Commons Attribution-Noncommercial-Share Alike Detailed Terms http://creativecommons.org/licenses/by-nc-sa/4.0/ DOI: 10.1113/JP275936 Dichotomous parvalbumin interneuron populations in dorsolateral and dorsomedial striatum Patricia Monteiro 1,2,3,4, Boaz Barak1, Yang Zhou1, Rebecca McRae1, Diana Rodrigues4, Ian R. Wickersham1 and Guoping Feng1,2 1McGovern Institute for Brain Research, Department of Brain and Cognitive Sciences; Massachusetts Institute of Technology; Cambridge, MA, 02139; USA 2Stanley Center for Psychiatric Research; Broad Institute of MIT and Harvard; Cambridge, MA, 02139; USA 3PhD Programme in Experimental Biology and Biomedicine (PDBEB), Center for Neuroscience and Cell Biology; University of Coimbra; Coimbra, 3004; Portugal 4Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho and ICVS/3B‟s - PT Government Associate Laboratory, Braga/Guimarães, 4710–057; Portugal Conflict of Interest: the -
A High-Throughput Approach to Uncover Novel Roles of APOBEC2, a Functional Orphan of the AID/APOBEC Family
Rockefeller University Digital Commons @ RU Student Theses and Dissertations 2018 A High-Throughput Approach to Uncover Novel Roles of APOBEC2, a Functional Orphan of the AID/APOBEC Family Linda Molla Follow this and additional works at: https://digitalcommons.rockefeller.edu/ student_theses_and_dissertations Part of the Life Sciences Commons A HIGH-THROUGHPUT APPROACH TO UNCOVER NOVEL ROLES OF APOBEC2, A FUNCTIONAL ORPHAN OF THE AID/APOBEC FAMILY A Thesis Presented to the Faculty of The Rockefeller University in Partial Fulfillment of the Requirements for the degree of Doctor of Philosophy by Linda Molla June 2018 © Copyright by Linda Molla 2018 A HIGH-THROUGHPUT APPROACH TO UNCOVER NOVEL ROLES OF APOBEC2, A FUNCTIONAL ORPHAN OF THE AID/APOBEC FAMILY Linda Molla, Ph.D. The Rockefeller University 2018 APOBEC2 is a member of the AID/APOBEC cytidine deaminase family of proteins. Unlike most of AID/APOBEC, however, APOBEC2’s function remains elusive. Previous research has implicated APOBEC2 in diverse organisms and cellular processes such as muscle biology (in Mus musculus), regeneration (in Danio rerio), and development (in Xenopus laevis). APOBEC2 has also been implicated in cancer. However the enzymatic activity, substrate or physiological target(s) of APOBEC2 are unknown. For this thesis, I have combined Next Generation Sequencing (NGS) techniques with state-of-the-art molecular biology to determine the physiological targets of APOBEC2. Using a cell culture muscle differentiation system, and RNA sequencing (RNA-Seq) by polyA capture, I demonstrated that unlike the AID/APOBEC family member APOBEC1, APOBEC2 is not an RNA editor. Using the same system combined with enhanced Reduced Representation Bisulfite Sequencing (eRRBS) analyses I showed that, unlike the AID/APOBEC family member AID, APOBEC2 does not act as a 5-methyl-C deaminase. -
Anti-BTRC / Beta Trcp1 Antibody (ARG57309)
Product datasheet [email protected] ARG57309 Package: 100 μl anti-BTRC / beta TrCP1 antibody Store at: -20°C Summary Product Description Rabbit Polyclonal antibody recognizes BTRC / beta TrCP1 Tested Reactivity Hu Tested Application IHC-P, WB Host Rabbit Clonality Polyclonal Isotype IgG Target Name BTRC / beta TrCP1 Antigen Species Human Immunogen Recombinant Protein of Human BTRC / beta-TrCP1. Conjugation Un-conjugated Alternate Names bTrCP1; betaTrCP; BETA-TRCP; FBW1A; Epididymis tissue protein Li 2a; F-box and WD repeats protein beta-TrCP; E3RSIkappaB; pIkappaBalpha-E3 receptor subunit; FBXW1A; FWD1; bTrCP; FBXW1; F- box/WD repeat-containing protein 1A Application Instructions Application table Application Dilution IHC-P 1:50 - 1:200 WB 1:500 - 1:2000 Application Note * The dilutions indicate recommended starting dilutions and the optimal dilutions or concentrations should be determined by the scientist. Positive Control BT474 Calculated Mw 69 kDa Properties Form Liquid Purification Affinity purification with immunogen. Buffer PBS (pH 7.3), 0.02% Sodium azide and 50% Glycerol. Preservative 0.02% Sodium azide Stabilizer 50% Glycerol Storage instruction For continuous use, store undiluted antibody at 2-8°C for up to a week. For long-term storage, aliquot and store at -20°C. Storage in frost free freezers is not recommended. Avoid repeated freeze/thaw cycles. Suggest spin the vial prior to opening. The antibody solution should be gently mixed before use. www.arigobio.com 1/3 Note For laboratory research only, not for drug, diagnostic or other use. Bioinformation Gene Symbol BTRC Gene Full Name beta-transducin repeat containing E3 ubiquitin protein ligase Background This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box.