DOCSLIB.ORG

Cardiogenetics Testing Reference Guide December 2018

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Cardiogenetics Testing Reference Guide December 2018 Cardiogenetics Testing reference guide December 2018 Why Choose Ambry More than 1 in 200 people have an inherited cardiovascular condition. Ambry’s mission is to provide the most advanced genetic testing information available to help you identity those at-risk and determine the best treatment options. If we know a patient has a disease-causing genetic change, not only does it mean better disease management, it also indicates that we can test others in the family and provide them with potentially life-saving information. Diseases and Testing Options cardiomyopathies arrhythmias Hypertrophic Cardiomyopathy (HCMNext) Catecholaminergic Polymorphic Ventricular Dilated Cardiomyopathy (DCMNext) Tachycardia (CPVTNext) Arrhythmogenic Right Ventricular Long QT Syndrome, Short QT Syndrome, Cardiomyopathy (ARVCNext) Brugada Syndrome (LongQTNext, RhythmNext) Cardiomyopathies (CMNext, CardioNext) Arrhythmias (RhythmNext, CardioNext) other cardio conditions Transthyretin Amyloidosis (TTR) familial hypercholesterolemia Noonan Syndrome (NoonanNext) and lipid disorders Hereditary Hemorrhagic Telangiectasia Familial Hypercholesterolemia (FHNext) (HHTNext) Sitosterolemia (Sitosterolemia Panel) Comprehensive Lipid Menu thoracic aortic aneurysms (CustomNext-Cardio) and dissections Familial Chylomicronemia Syndrome (FCSNext) Thoracic Aneurysms and Dissections, aortopathies (TAADNext) Marfan Syndrome (TAADNext) Ehlers-Danlos Syndrome (TAADNext) Targeted Panels Gene Comparison ALL PANELS HAVE A TURNAROUND TIME OF 2-3 WEEKS arrhythmias CPVTNext CPVTNext CASQ2, RYR2 CASQ2, CALM1 RYR2 TRDN CALM1 RhythmNext TRDN CACNA2D1, CACNB2, LongQTNext RhythmNext DES, DSC2, DSG2, DSP, ANK2, AKAP9, CACNA1C, CACNA2 GPD1L, HCDN1,4 C, AJUCPN,B 2, CALM2, CALM3, CAV3, LongQTNext DES, DSC KCND3, K2C, DNSEG3,2 K, CDNSPJ8, , AKNCKN2E, 1A, KACPN9E,2 C, AKCNHA21C, , GPD1L, H LMNA, NCKNX42, .J5U, PP,L N, CKACLNMJ52, ,K CCANLJM2,3 K, CANVQ31,, KCND3, PKP2, SKCN1E03A, K, SCCNNJ81B, , KSCNE41B, ,K SCCNNE52A, ,K SCNNTHA21, LMSNCAN, 3NBK, XTE2C.5R, LP,L TNB, X5, KCNJ5, KCNJ2, KCNQ1, PKPT2M, SECMN4103A, T, RSPCMN14B, SCN4B, SCN5A, SNTA1 SCN3B, TECRL, TBX5, TMEM43, TRPM4 cardiomyopathies ARVCNext ARVCNex CMNext includes all genes seen here DS t G2, DSC2, and CRYAB, EMD, HCM4 JUP, P KP2, CMNext includes all genes seen here DS TMEGM24, 3D,S RCY2R, 2 and CRYAB, EMD, HCM4 JUP, PKP2, TMEM43, RYR2 DES, DSP, LMNA, SCN5A DES, DSP, PLN LMNA, SCN5A PL DCMNext N ABCC9, ALMS1, HCMNext ACTC1, ACTN2, ALPK3, FHL1, GLA, BAG3, DMD, DOLK DCMNext , ANKRD1, CSRP3, JPH2, MYL2, MYL3, FAKBRCPC, 9L,A AMLMA4S,1 ,L D HCMNext B3, AFLCNTC,1 ,L ACMTPN22, , APLRPKA3,G F2H, LP1T, PGNLA11,, BNAKGX32, .D5M, RDB,M D2O0L,K, MANYKBRPDC31,, CMSYRHP36,, JPH2, MYRILT21,, MSOYSL13, FKTRAPZ, ,L AMA4, LD TBX20, TTNB3 , MYHFL7N, CM, YLAPNM, PN2E, XN, PRKAG2, PTPN11, NKX2.5, RBM20, RAMFY1,B TPCCA3,P M, TYNHN6C, 1, RIT1, SOS1 TAZ, TBX20, TTN MYTHN7N, IM3, Y PTNN,N NTE2X, N, RATFP1M, T1C, ATTPR, T, VNCNLC1, TNNI3, TNNT2, TPM1, TTR, VCL Comprehensive, Targeted and Lipid Panel Gene Lists ALL PANELS HAVE A TURNAROUND TIME OF 2-3 WEEKS CardioNext TAADNext NoonanNext FHNext 92 genes 35 genes 18 genes 4 genes + SNP ABCC9 LAMA4 ACTA2 BRAF APOB ACTC1 LAMP2 BGN CBL LDLR ACTN2 LDB3 CBS HRAS LDLRAP1 AKAP9 LMNA CHST14 KRAS PCSK9 ALMS1 MYBPC3 COL1A1 LZTR1 SLCO1B1 (c.521T>C)* ALPK3 MYH6 COL1A2 MAP2K1 ANK2 MYH7 COL3A1 MAP2K2 ANKRD1 MYL2 COL5A1 NF1 FCSNext BAG3 MYL3 COL5A2 NRAS 5 genes CACNA1C MYOZ2 EFEMP2 PPP1CB APOA5 CACNA2D1 MYPN FBN1 PTPN11 APOC2 CACNB2 NEXN FBN2 RAF1 GPIHBP1 CALM1 NKX2.5 FKBP14 RASA1 CALM2 PKP2 FLNA RIT1 LMF1 CALM3 PLN FOXE3 SHOC2 LPL CASQ2 PRKAG2 LOX SOS1 CAV3 PTPN11 MAT2A SOS2 Sitosterolemia CRYAB RAF1 MED12 SPRED1 CSRP3 RBM20 MFAP5 2 genes DES RIT1 MYH11 ABCG5 DMD RYR2 MYLK ABCG8 DOLK SCN10A NOTCH1 DSC2 SCN1B PLOD1 SCN2B CustomNext-Cardio DSG2 PRDM5 DSP SCN3B PRKG1 Up to 18 EMD SCN4B SKI additional lipid genes EYA4 SCN5A SLC2A10 ABCA1 FHL1 SNTA1 SMAD3 ABCG5 FKRP SOS1 SMAD4 ABCG8 FKTN TAZ TGFB2 APOA1 FLNC TBX20 TGFB3 GATAD1 TBX5 TGFBR1 APOA5 GLA TCAP TGFBR2 APOB GPD1L TECRL TNXB APOC2 HCN4 TGFB3 ZNF469 APOC3 JPH2 TMEM43 APOE JUP TNNC1 CYP27A1 KCND3 TNNI3 GPIHBP1 KCNE1 TNNT2 LCAT KCNE2 TPM1 LDLR KCNE3 TRDN LDLRAP1 KCNH2 TRPM4 KCNJ2 TTN LIPA KCNJ5 TTR LMF1 KCNJ8 TXNRD2 LPL KCNQ1 VCL PCSK9 CustomNext-Cardio allows you to choose your own combination of up to 167 genes. * Optional Over 1 Million Tests Completed moving science forward Free Family Member Testing Free testing for ALL family members is now available within 90 days of the original report if the proband was tested at Ambry. Family testing is done via specific site analysis for pathogenic or likely pathogenic variants. (Excludes SNP array and applies to single gene, panel or exome testing.) Purposeful Confirmatory Testing Many labs validate their tests based on certain limited studies. That’s why we led the largest study of its kind (20,000 cases) guiding us to utilize confirmatory testing when we see specific well-defined thresholds. Our mission is to get it right the first time. Flexible Sample Options Ambry accepts blood, saliva and other sample types to perform genetic testing. Sample for Life We periodically review variants and let you know when there is updated information, such as a reclassification. This is part of our commitment to finding answers. About Ambry Just as no two fingerprints are alike, the way disease presents itself in every individual is different. Since 1999, our mission has always been about understanding disease better, so treatments and cures can be found faster. Every sample that arrives in our lab is viewed as a person with a life and a story that is unique to only them. By providing advanced confirmation genetic testing for inherited and non-inherited diseases, we can help you make more informed and responsible medical management decisions with your patients. Visit ambrygen.com for more information. 50339.5460_v2 | 12.04.18 15 Argonaut, Aliso Viejo, CA 92656 USA Toll Free +1 866 262 7943 Fax +1 949 900 5501 ambrygen.com.
Load more

Recommended publications
  • Gene Symbol Gene Description ACVR1B Activin a Receptor, Type IB
    Table S1. Kinase clones included in human kinase cDNA library for yeast two-hybrid screening Gene Symbol Gene Description ACVR1B activin A receptor, type IB ADCK2 aarF domain containing kinase 2 ADCK4 aarF domain containing kinase 4 AGK multiple substrate lipid kinase;MULK AK1 adenylate kinase 1 AK3 adenylate kinase 3 like 1 AK3L1 adenylate kinase 3 ALDH18A1 aldehyde dehydrogenase 18 family, member A1;ALDH18A1 ALK anaplastic lymphoma kinase (Ki-1) ALPK1 alpha-kinase 1 ALPK2 alpha-kinase 2 AMHR2 anti-Mullerian hormone receptor, type II ARAF v-raf murine sarcoma 3611 viral oncogene homolog 1 ARSG arylsulfatase G;ARSG AURKB aurora kinase B AURKC aurora kinase C BCKDK branched chain alpha-ketoacid dehydrogenase kinase BMPR1A bone morphogenetic protein receptor, type IA BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) BRAF v-raf murine sarcoma viral oncogene homolog B1 BRD3 bromodomain containing 3 BRD4 bromodomain containing 4 BTK Bruton agammaglobulinemia tyrosine kinase BUB1 BUB1 budding uninhibited by benzimidazoles 1 homolog (yeast) BUB1B BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast) C9orf98 chromosome 9 open reading frame 98;C9orf98 CABC1 chaperone, ABC1 activity of bc1 complex like (S. pombe) CALM1 calmodulin 1 (phosphorylase kinase, delta) CALM2 calmodulin 2 (phosphorylase kinase, delta) CALM3 calmodulin 3 (phosphorylase kinase, delta) CAMK1 calcium/calmodulin-dependent protein kinase I CAMK2A calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha CAMK2B calcium/calmodulin-dependent
    [Show full text]
  • Voltage-Gated Sodium Channel Β1/Β1b Subunits Regulate Cardiac Physiology and Pathophysiology
    MINI REVIEW published: 23 April 2018 doi: 10.3389/fphys.2018.00351 Voltage-Gated Sodium Channel β1/β1B Subunits Regulate Cardiac Physiology and Pathophysiology Nnamdi Edokobi and Lori L. Isom* Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI, United States Cardiac myocyte contraction is initiated by a set of intricately orchestrated electrical impulses, collectively known as action potentials (APs). Voltage-gated sodium channels (NaVs) are responsible for the upstroke and propagation of APs in excitable cells, including cardiomyocytes. NaVs consist of a single, pore-forming α subunit and two different β subunits. The β subunits are multifunctional cell adhesion molecules and channel modulators that have cell type and subcellular domain specific functional effects. Variants in SCN1B, the gene encoding the Nav-β1 and -β1B subunits, are linked to atrial and ventricular arrhythmias, e.g., Brugada syndrome, as well as to the early infantile epileptic encephalopathy Dravet syndrome, all of which put patients at risk for sudden death. Evidence over the past two decades has demonstrated that Nav-β1/β1B subunits play critical roles in cardiac myocyte physiology, in which they regulate tetrodotoxin-resistant and -sensitive sodium currents, potassium currents, and calcium handling, and that Na -β1/β1B subunit dysfunction generates substrates Edited by: v Hugues Abriel, for arrhythmias. This review will highlight the role of Nav-β1/β1B subunits in cardiac Universität Bern, Switzerland physiology and pathophysiology. Reviewed by: Thomas Jespersen, Keywords: sodium channel, B subunit, arrhythmia, epilepsy, cell adhesion, electrophysiology University of Copenhagen, Denmark Steve Poelzing, Virginia Tech, United States INTRODUCTION *Correspondence: Lori L. Isom The heart contracts to pump blood throughout the body.
    [Show full text]
  • Adrenocortical Tumors Have a Distinct Long Non-Coding RNA Expression Profile and LINC00271 Is Downregulated in Malignancy
    Edinburgh Research Explorer Adrenocortical tumors have a distinct long non-coding RNA expression profile and LINC00271 is downregulated in malignancy Citation for published version: Buishand, F, Liu-Chittenden, Y, Fan, Y, Tirosh, A, Gara, S, Patel, D, Meerzaman, D & Kebebew, E 2019, 'Adrenocortical tumors have a distinct long non-coding RNA expression profile and LINC00271 is downregulated in malignancy', Surgery. https://doi.org/10.1016/j.surg.2019.04.067 Digital Object Identifier (DOI): 10.1016/j.surg.2019.04.067 Link: Link to publication record in Edinburgh Research Explorer Document Version: Peer reviewed version Published In: Surgery General rights Copyright for the publications made accessible via the Edinburgh Research Explorer is retained by the author(s) and / or other copyright owners and it is a condition of accessing these publications that users recognise and abide by the legal requirements associated with these rights. Take down policy The University of Edinburgh has made every reasonable effort to ensure that Edinburgh Research Explorer content complies with UK legislation. If you believe that the public display of this file breaches copyright please contact [email protected] providing details, and we will remove access to the work immediately and investigate your claim. Download date: 07. Oct. 2021 Elsevier Editorial System(tm) for Surgery Manuscript Draft Manuscript Number: 19-AAES-22R2 Title: Adrenocortical tumors have a distinct long non-coding RNA expression profile and LINC00271 is downregulated in malignancy Article Type: AAES Society Paper Section/Category: Basic Research Keywords: LINC00271; adrenocortical; long noncoding RNA; microarray; prognostic marker; gene signaling pathway. Corresponding Author: Dr.
    [Show full text]
  • Supplemental Material Table of Contents
    Supplemental material Table of Contents Detailed Materials and Methods ......................................................................................................... 2 Perioperative period ........................................................................................................................... 2 Ethical aspects ................................................................................................................................... 4 Evaluation of heart failure ................................................................................................................. 4 Sample preparation for ANP mRNA expression .................................................................................. 5 Sample preparation for validative qRT-PCR (Postn, Myh7, Gpx3, Tgm2) ............................................ 6 Tissue fibrosis .................................................................................................................................... 7 Ventricular remodeling and histological tissue preservation ................................................................ 8 Evaluation of the histological preservation of cardiac tissue ................................................................ 9 Sample preparation and quantitative label-free proteomics analyses .................................................. 10 Statistical methods ........................................................................................................................... 12 References ........................................................................................................................................
    [Show full text]
  • Genome Editing with CRISPR/Cas9 in Postnatal Mice Corrects PRKAG2 Cardiac Syndrome
    Cell Research (2016) 26:1099-1111. © 2016 IBCB, SIBS, CAS All rights reserved 1001-0602/16 $ 32.00 ORIGINAL ARTICLE www.nature.com/cr Genome editing with CRISPR/Cas9 in postnatal mice corrects PRKAG2 cardiac syndrome Chang Xie1, 2, *, Ya-Ping Zhang3, *, Lu Song2, *, Jie Luo1, Wei Qi2, Jialu Hu3, Danbo Lu3, Zhen Yang3, Jian Zhang2, Jian Xiao1, Bin Zhou4, Jiu-Lin Du5, Naihe Jing2, Yong Liu1, Yan Wang1, Bo-Liang Li2, Bao-Liang Song1, Yan Yan3 1Hubei Key Laboratory of Cell Homeostasis, College of Life Sciences, Wuhan University, Wuhan 430072, China; 2The State Key Laboratory of Molecular Biology, Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 320 Yue-Yang Road, Shanghai 200031, China; 3Shanghai Institute of Cardiovascular Diseases, Zhongshan Hospital, Fudan University, Shanghai 200032, China; 4Key Laboratory of Nutrition and Metabolism, Institute for Nutritional Sci- ences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 320 Yue-Yang Road, Shanghai 200031, China; 5Institute of Neuroscience and State Key Laboratory of Neuroscience, Shanghai Institutes for Biological Sciences, Chinese Acade- my of Sciences, 320 Yue-Yang Road, Shanghai 200031, China PRKAG2 cardiac syndrome is an autosomal dominant inherited disease resulted from mutations in the PRK- AG2 gene that encodes γ2 regulatory subunit of AMP-activated protein kinase. Affected patients usually develop ventricular tachyarrhythmia and experience progressive heart failure that is refractory to medical treatment and requires cardiac transplantation. In this study, we identify a H530R mutation in PRKAG2 from patients with famil- ial Wolff-Parkinson-White syndrome. By generating H530R PRKAG2 transgenic and knock-in mice, we show that both models recapitulate human symptoms including cardiac hypertrophy and glycogen storage, confirming that the H530R mutation is causally related to PRKAG2 cardiac syndrome.
    [Show full text]
  • The Mineralocorticoid Receptor Leads to Increased Expression of EGFR
    www.nature.com/scientificreports OPEN The mineralocorticoid receptor leads to increased expression of EGFR and T‑type calcium channels that support HL‑1 cell hypertrophy Katharina Stroedecke1,2, Sandra Meinel1,2, Fritz Markwardt1, Udo Kloeckner1, Nicole Straetz1, Katja Quarch1, Barbara Schreier1, Michael Kopf1, Michael Gekle1 & Claudia Grossmann1* The EGF receptor (EGFR) has been extensively studied in tumor biology and recently a role in cardiovascular pathophysiology was suggested. The mineralocorticoid receptor (MR) is an important efector of the renin–angiotensin–aldosterone‑system and elicits pathophysiological efects in the cardiovascular system; however, the underlying molecular mechanisms are unclear. Our aim was to investigate the importance of EGFR for MR‑mediated cardiovascular pathophysiology because MR is known to induce EGFR expression. We identifed a SNP within the EGFR promoter that modulates MR‑induced EGFR expression. In RNA‑sequencing and qPCR experiments in heart tissue of EGFR KO and WT mice, changes in EGFR abundance led to diferential expression of cardiac ion channels, especially of the T‑type calcium channel CACNA1H. Accordingly, CACNA1H expression was increased in WT mice after in vivo MR activation by aldosterone but not in respective EGFR KO mice. Aldosterone‑ and EGF‑responsiveness of CACNA1H expression was confrmed in HL‑1 cells by Western blot and by measuring peak current density of T‑type calcium channels. Aldosterone‑induced CACNA1H protein expression could be abrogated by the EGFR inhibitor AG1478. Furthermore, inhibition of T‑type calcium channels with mibefradil or ML218 reduced diameter, volume and BNP levels in HL‑1 cells. In conclusion the MR regulates EGFR and CACNA1H expression, which has an efect on HL‑1 cell diameter, and the extent of this regulation seems to depend on the SNP‑216 (G/T) genotype.
    [Show full text]
  • Molecular Profile of Tumor-Specific CD8+ T Cell Hypofunction in a Transplantable Murine Cancer Model
    Downloaded from http://www.jimmunol.org/ by guest on September 25, 2021 T + is online at: average * The Journal of Immunology , 34 of which you can access for free at: 2016; 197:1477-1488; Prepublished online 1 July from submission to initial decision 4 weeks from acceptance to publication 2016; doi: 10.4049/jimmunol.1600589 http://www.jimmunol.org/content/197/4/1477 Molecular Profile of Tumor-Specific CD8 Cell Hypofunction in a Transplantable Murine Cancer Model Katherine A. Waugh, Sonia M. Leach, Brandon L. Moore, Tullia C. Bruno, Jonathan D. Buhrman and Jill E. Slansky J Immunol cites 95 articles Submit online. Every submission reviewed by practicing scientists ? is published twice each month by Receive free email-alerts when new articles cite this article. Sign up at: http://jimmunol.org/alerts http://jimmunol.org/subscription Submit copyright permission requests at: http://www.aai.org/About/Publications/JI/copyright.html http://www.jimmunol.org/content/suppl/2016/07/01/jimmunol.160058 9.DCSupplemental This article http://www.jimmunol.org/content/197/4/1477.full#ref-list-1 Information about subscribing to The JI No Triage! Fast Publication! Rapid Reviews! 30 days* Why • • • Material References Permissions Email Alerts Subscription Supplementary The Journal of Immunology The American Association of Immunologists, Inc., 1451 Rockville Pike, Suite 650, Rockville, MD 20852 Copyright © 2016 by The American Association of Immunologists, Inc. All rights reserved. Print ISSN: 0022-1767 Online ISSN: 1550-6606. This information is current as of September 25, 2021. The Journal of Immunology Molecular Profile of Tumor-Specific CD8+ T Cell Hypofunction in a Transplantable Murine Cancer Model Katherine A.
    [Show full text]
  • Genetic Mutations and Mechanisms in Dilated Cardiomyopathy
    Genetic mutations and mechanisms in dilated cardiomyopathy Elizabeth M. McNally, … , Jessica R. Golbus, Megan J. Puckelwartz J Clin Invest. 2013;123(1):19-26. https://doi.org/10.1172/JCI62862. Review Series Genetic mutations account for a significant percentage of cardiomyopathies, which are a leading cause of congestive heart failure. In hypertrophic cardiomyopathy (HCM), cardiac output is limited by the thickened myocardium through impaired filling and outflow. Mutations in the genes encoding the thick filament components myosin heavy chain and myosin binding protein C (MYH7 and MYBPC3) together explain 75% of inherited HCMs, leading to the observation that HCM is a disease of the sarcomere. Many mutations are “private” or rare variants, often unique to families. In contrast, dilated cardiomyopathy (DCM) is far more genetically heterogeneous, with mutations in genes encoding cytoskeletal, nucleoskeletal, mitochondrial, and calcium-handling proteins. DCM is characterized by enlarged ventricular dimensions and impaired systolic and diastolic function. Private mutations account for most DCMs, with few hotspots or recurring mutations. More than 50 single genes are linked to inherited DCM, including many genes that also link to HCM. Relatively few clinical clues guide the diagnosis of inherited DCM, but emerging evidence supports the use of genetic testing to identify those patients at risk for faster disease progression, congestive heart failure, and arrhythmia. Find the latest version: https://jci.me/62862/pdf Review series Genetic mutations and mechanisms in dilated cardiomyopathy Elizabeth M. McNally, Jessica R. Golbus, and Megan J. Puckelwartz Department of Human Genetics, University of Chicago, Chicago, Illinois, USA. Genetic mutations account for a significant percentage of cardiomyopathies, which are a leading cause of conges- tive heart failure.
    [Show full text]
  • Supplementary Table S1. Upregulated Genes Differentially
    Supplementary Table S1. Upregulated genes differentially expressed in athletes (p < 0.05 and 1.3-fold change) Gene Symbol p Value Fold Change 221051_s_at NMRK2 0.01 2.38 236518_at CCDC183 0.00 2.05 218804_at ANO1 0.00 2.05 234675_x_at 0.01 2.02 207076_s_at ASS1 0.00 1.85 209135_at ASPH 0.02 1.81 228434_at BTNL9 0.03 1.81 229985_at BTNL9 0.01 1.79 215795_at MYH7B 0.01 1.78 217979_at TSPAN13 0.01 1.77 230992_at BTNL9 0.01 1.75 226884_at LRRN1 0.03 1.74 220039_s_at CDKAL1 0.01 1.73 236520_at 0.02 1.72 219895_at TMEM255A 0.04 1.72 201030_x_at LDHB 0.00 1.69 233824_at 0.00 1.69 232257_s_at 0.05 1.67 236359_at SCN4B 0.04 1.64 242868_at 0.00 1.63 1557286_at 0.01 1.63 202780_at OXCT1 0.01 1.63 1556542_a_at 0.04 1.63 209992_at PFKFB2 0.04 1.63 205247_at NOTCH4 0.01 1.62 1554182_at TRIM73///TRIM74 0.00 1.61 232892_at MIR1-1HG 0.02 1.61 204726_at CDH13 0.01 1.6 1561167_at 0.01 1.6 1565821_at 0.01 1.6 210169_at SEC14L5 0.01 1.6 236963_at 0.02 1.6 1552880_at SEC16B 0.02 1.6 235228_at CCDC85A 0.02 1.6 1568623_a_at SLC35E4 0.00 1.59 204844_at ENPEP 0.00 1.59 1552256_a_at SCARB1 0.02 1.59 1557283_a_at ZNF519 0.02 1.59 1557293_at LINC00969 0.03 1.59 231644_at 0.01 1.58 228115_at GAREM1 0.01 1.58 223687_s_at LY6K 0.02 1.58 231779_at IRAK2 0.03 1.58 243332_at LOC105379610 0.04 1.58 232118_at 0.01 1.57 203423_at RBP1 0.02 1.57 AMY1A///AMY1B///AMY1C///AMY2A///AMY2B// 208498_s_at 0.03 1.57 /AMYP1 237154_at LOC101930114 0.00 1.56 1559691_at 0.01 1.56 243481_at RHOJ 0.03 1.56 238834_at MYLK3 0.01 1.55 213438_at NFASC 0.02 1.55 242290_at TACC1 0.04 1.55 ANKRD20A1///ANKRD20A12P///ANKRD20A2///
    [Show full text]
  • Clinical and Prognostic Significance of MYH11 in Lung Cancer
    ONCOLOGY LETTERS 19: 3899-3906, 2020 Clinical and prognostic significance ofMYH11 in lung cancer MENG-JUN NIE1,2, XIAO-TING PAN1,2, HE-YUN TAO1,2, MENG-JUN XU1,2, SHEN-LIN LIU1, WEI SUN1, JIAN WU1 and XI ZOU1 1Oncology Department, The Affiliated Hospital of Nanjing University of Chinese Medicine, Jiangsu Province Hospital of Chinese Medicine, Nanjing, Jiangsu 210029; 2No.1 Clinical Medical College, Nanjing University of Chinese Medicine, Nanjing, Jiangsu 210023, P.R. China Received May 14, 2019; Accepted February 21, 2020 DOI: 10.3892/ol.2020.11478 Abstract. Myosin heavy chain 11 (MYH11), encoded by 5-year survival rate is estimated to approximately 18% (2). the MYH11 gene, is a protein that participates in muscle Therefore, novel targets for drug treatment and prognosis of contraction through the hydrolysis of adenosine triphosphate. lung cancer are needed. Although previous studies have demonstrated that MYH11 Myosin heavy chain 11 (MYH11), which is encoded by gene expression levels are downregulated in several types of the MYH11 gene, is a smooth muscle myosin belonging to the cancer, its expression levels have rarely been investigated in myosin heavy chain family (3). MYH11 is a contractile protein lung cancer. The present study aimed to explore the clinical that slides past actin filaments to induce muscle contraction significance and prognostic value of MYH11 expression levels via adenosine triphosphate hydrolysis (4,5). Previous findings in lung cancer and to further study the underlying molecular have shown that in aortic tissue, destruction of MYH11 can mechanisms of the function of this gene. The Oncomine lead to vascular smooth muscle cell loss, disorganization database showed that the MYH11 expression levels were and hyperplasia, which is one of the mechanisms leading to decreased in lung cancer compared with those noted in the thoracic aortic aneurysms and dissections (6,7).
    [Show full text]
  • A Computational Approach for Defining a Signature of Β-Cell Golgi Stress in Diabetes Mellitus
    Page 1 of 781 Diabetes A Computational Approach for Defining a Signature of β-Cell Golgi Stress in Diabetes Mellitus Robert N. Bone1,6,7, Olufunmilola Oyebamiji2, Sayali Talware2, Sharmila Selvaraj2, Preethi Krishnan3,6, Farooq Syed1,6,7, Huanmei Wu2, Carmella Evans-Molina 1,3,4,5,6,7,8* Departments of 1Pediatrics, 3Medicine, 4Anatomy, Cell Biology & Physiology, 5Biochemistry & Molecular Biology, the 6Center for Diabetes & Metabolic Diseases, and the 7Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202; 2Department of BioHealth Informatics, Indiana University-Purdue University Indianapolis, Indianapolis, IN, 46202; 8Roudebush VA Medical Center, Indianapolis, IN 46202. *Corresponding Author(s): Carmella Evans-Molina, MD, PhD ([email protected]) Indiana University School of Medicine, 635 Barnhill Drive, MS 2031A, Indianapolis, IN 46202, Telephone: (317) 274-4145, Fax (317) 274-4107 Running Title: Golgi Stress Response in Diabetes Word Count: 4358 Number of Figures: 6 Keywords: Golgi apparatus stress, Islets, β cell, Type 1 diabetes, Type 2 diabetes 1 Diabetes Publish Ahead of Print, published online August 20, 2020 Diabetes Page 2 of 781 ABSTRACT The Golgi apparatus (GA) is an important site of insulin processing and granule maturation, but whether GA organelle dysfunction and GA stress are present in the diabetic β-cell has not been tested. We utilized an informatics-based approach to develop a transcriptional signature of β-cell GA stress using existing RNA sequencing and microarray datasets generated using human islets from donors with diabetes and islets where type 1(T1D) and type 2 diabetes (T2D) had been modeled ex vivo. To narrow our results to GA-specific genes, we applied a filter set of 1,030 genes accepted as GA associated.
    [Show full text]
  • Communication Pathways in Human Nonmuscle Myosin-2C 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 Authors: 25 Krishna Chinthalapudia,B,C,1, Sarah M
    1 Mechanistic Insights into the Active Site and Allosteric 2 Communication Pathways in Human Nonmuscle Myosin-2C 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 Authors: 25 Krishna Chinthalapudia,b,c,1, Sarah M. Heisslera,d,1, Matthias Prellera,e, James R. Sellersd,2, and 26 Dietmar J. Mansteina,b,2 27 28 Author Affiliations 29 aInstitute for Biophysical Chemistry, OE4350 Hannover Medical School, 30625 Hannover, 30 Germany. 31 bDivision for Structural Biochemistry, OE8830, Hannover Medical School, 30625 Hannover, 32 Germany. 33 cCell Adhesion Laboratory, Department of Integrative Structural and Computational Biology, The 34 Scripps Research Institute, Jupiter, Florida 33458, USA. 35 dLaboratory of Molecular Physiology, NHLBI, National Institutes of Health, Bethesda, Maryland 36 20892, USA. 37 eCentre for Structural Systems Biology (CSSB), German Electron Synchrotron (DESY), 22607 38 Hamburg, Germany. 39 1K.C. and S.M.H. contributed equally to this work 40 2To whom correspondence may be addressed: E-mail: [email protected] or 41 [email protected] 42 43 1 44 Abstract 45 Despite a generic, highly conserved motor domain, ATP turnover kinetics and their activation by 46 F-actin vary greatly between myosin-2 isoforms. Here, we present a 2.25 Å crystal pre- 47 powerstroke state (ADPVO4) structure of the human nonmuscle myosin-2C motor domain, one 48 of the slowest myosins characterized. In combination with integrated mutagenesis, ensemble- 49 solution kinetics, and molecular dynamics simulation approaches, the structure reveals an 50 allosteric communication pathway that connects the distal end of the motor domain with the 51 active site.
    [Show full text]