{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T16:14:53Z","timestamp":1764260093120,"version":"3.37.3"},"reference-count":45,"publisher":"Public Library of Science (PLoS)","issue":"10","license":[{"start":{"date-parts":[[2019,10,24]],"date-time":"2019-10-24T00:00:00Z","timestamp":1571875200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002923","name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009070","name":"Hans-Sigrist-Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009070","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"DOI":"10.1371\/journal.pgen.1008416","type":"journal-article","created":{"date-parts":[[2019,10,24]],"date-time":"2019-10-24T17:27:02Z","timestamp":1571938022000},"page":"e1008416","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":11,"title":["A RAPGEF6 variant constitutes a major risk factor for laryngeal paralysis in dogs"],"prefix":"10.1371","volume":"15","author":[{"given":"Sheida","family":"Hadji Rasouliha","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3090-9226","authenticated-orcid":true,"given":"Laura","family":"Barrientos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"Anderegg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carina","family":"Klesty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Lorenz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8602-1993","authenticated-orcid":true,"given":"Lucie","family":"Chevallier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vidhya","family":"Jagannathan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0420-963X","authenticated-orcid":true,"given":"Sarah","family":"R\u00f6sch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0553-4880","authenticated-orcid":true,"given":"Tosso","family":"Leeb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2019,10,24]]},"reference":[{"key":"pgen.1008416.ref001","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1097\/NRL.0b013e3181b1cde5","article-title":"The larynx for neurologists","volume":"15","author":"TK Meyer","year":"2009","journal-title":"Neurologist"},{"key":"pgen.1008416.ref002","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1111\/j.1532-950X.2009.00626.x","article-title":"Esophageal dysfunction in dogs with idiopathic laryngeal paralysis: a controlled cohort study","volume":"39","author":"BJ Stanley","year":"2010","journal-title":"Vet Surg"},{"key":"pgen.1008416.ref003","first-page":"1735","article-title":"Laryngeal paralysis in immature and mature dogs as one sign of a more diffuse polyneuropathy","volume":"194","author":"KG Braund","year":"1989","journal-title":"J Am Vet Med Assoc"},{"key":"pgen.1008416.ref004","doi-asserted-by":"crossref","first-page":"19","DOI":"10.5326\/JAAHA-MS-5959","article-title":"Comparison of propofol and propofol\/ketamine anesthesia for evaluation of laryngeal function in healthy dogs","volume":"50","author":"KL McKeirnan","year":"2014","journal-title":"J Am Anim Hosp Assoc"},{"key":"pgen.1008416.ref005","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1111\/j.1751-0813.2000.tb10449.x","article-title":"Prevalence of laryngeal paresis in dogs undergoing general anaesthesia","volume":"78","author":"C Broome","year":"2000","journal-title":"Aust Vet J"},{"key":"pgen.1008416.ref006","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.2460\/javma.253.8.1057","article-title":"Congenital laryngeal paralysis in Alaskan Huskies: 25 cases (2009\u20132014)","volume":"253","author":"DJF von Pfeil","year":"2018","journal-title":"J Am Vet Med Assoc"},{"key":"pgen.1008416.ref007","doi-asserted-by":"crossref","first-page":"188","DOI":"10.2460\/javma.248.2.188","article-title":"Risk factors for the development of aspiration pneumonia after unilateral arytenoid lateralization in dogs with laryngeal paralysis: 232 cases (1987\u20132012)","volume":"248","author":"D Wilson","year":"2016","journal-title":"J Am Vet Med Assoc"},{"key":"pgen.1008416.ref008","doi-asserted-by":"crossref","first-page":"534","DOI":"10.2460\/ajvr.1994.55.04.534","article-title":"Laryngeal paralysis-polyneuropathy complex in young Dalmatians","volume":"55","author":"KG Braund","year":"1994","journal-title":"Am J Vet Res"},{"key":"pgen.1008416.ref009","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1111\/vsu.12410","article-title":"Evaluation of pharyngeal function in dogs with laryngeal paralysis before and after unilateral arytenoid lateralization","volume":"44","author":"N Andrade","year":"2015","journal-title":"Vet Surg"},{"key":"pgen.1008416.ref010","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1111\/j.1748-5827.1964.tb04259.x","article-title":"Observations on the upper respiratory tract of the dog and cat","volume":"5","author":"WR Cook","year":"1964","journal-title":"J Small Anim Pract"},{"key":"pgen.1008416.ref011","first-page":"714","article-title":"Spontaneous laryngeal paralysis in young Bouviers","volume":"14","author":"AJ Venker-van Haagen","year":"1978","journal-title":"J Am Anim Hosp Assoc"},{"key":"pgen.1008416.ref012","first-page":"551","article-title":"Treatment of laryngeal paralysis in dogs by partial laryngectomy","volume":"18","author":"Harvey CE","year":"1982","journal-title":"J Am Anim Hosp Assoc"},{"key":"pgen.1008416.ref013","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1136\/vr.153.20.624","article-title":"Juvenile laryngeal paralysis in three Siberian Husky x Alaskan malamute puppies","volume":"153","author":"ZS Polizopoulou","year":"2003","journal-title":"Vet Rec"},{"key":"pgen.1008416.ref014","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1111\/j.1939-1676.1998.tb02131.x","article-title":"Laryngeal paralysis-polyneuropathy complex in young Rottweilers","volume":"12","author":"OM Mahony","year":"1998","journal-title":"J Vet Intern Med"},{"key":"pgen.1008416.ref015","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1111\/j.1748-5827.2000.tb03153.x","article-title":"Spontaneous laryngeal paralysis in four white-coated German shepherd dogs","volume":"41","author":"AE Ridyard","year":"2000","journal-title":"J Small Anim Pract"},{"key":"pgen.1008416.ref016","doi-asserted-by":"crossref","first-page":"2003","DOI":"10.1111\/jvim.15316","article-title":"Juvenile-onset polyneuropathy in American Staffordshire Terriers","volume":"32","author":"H Vandenberghe","year":"2018","journal-title":"J Vet Intern Med"},{"key":"pgen.1008416.ref017","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.2460\/ajvr.77.10.1114","article-title":"Evaluation of the dynactin 1 gene in Leonbergers and Labrador Retrievers with laryngeal paralysis","volume":"77","author":"DE Holt","year":"2016","journal-title":"Am J Vet Res"},{"key":"pgen.1008416.ref018","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/mus.10350","article-title":"Inherited polyneuropathy in Leonberger dogs: a mixed or intermediate form of Charcot-Marie-Tooth disease?","volume":"27","author":"GD Shelton","year":"2003","journal-title":"Muscle Nerve"},{"key":"pgen.1008416.ref019","doi-asserted-by":"crossref","first-page":"e1004635","DOI":"10.1371\/journal.pgen.1004635","article-title":"An ARHGEF10 deletion is highly associated with a juvenile-onset inherited polyneuropathy in Leonberger and Saint Bernard dogs","volume":"10","author":"KJ Ekenstedt","year":"2014","journal-title":"PLoS Genet"},{"key":"pgen.1008416.ref020","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1186\/s12864-017-4081-z","article-title":"A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs","volume":"18","author":"D Becker","year":"2017","journal-title":"BMC Genomics"},{"key":"pgen.1008416.ref021","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1111\/j.1467-2995.2004.00168.x","article-title":"Effects of doxapram HCl on laryngeal function of normal dogs and dogs with naturally occurring laryngeal paralysis","volume":"31","author":"KM Tobias","year":"2004","journal-title":"Vet Anaesth Analg"},{"key":"pgen.1008416.ref022","doi-asserted-by":"crossref","first-page":"e1008102","DOI":"10.1371\/journal.pgen.1008102","article-title":"An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome","volume":"15","author":"TW Marchant","year":"2019","journal-title":"PLoS Genet"},{"key":"pgen.1008416.ref023","doi-asserted-by":"crossref","first-page":"D83","DOI":"10.1093\/nar\/gks1263","article-title":"SINEBase: a database and tool for SINE analysis","volume":"41","author":"NS Vassetzky","year":"2013","journal-title":"Nucleic Acids Res"},{"key":"pgen.1008416.ref024","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/S0074-7696(05)47004-7","article-title":"Short retroposons in eukaryotic genomes","volume":"247","author":"DA Kramerov","year":"2005","journal-title":"Int Rev Cytol"},{"key":"pgen.1008416.ref025","doi-asserted-by":"crossref","first-page":"390","DOI":"10.3389\/fgene.2018.00390","article-title":"Processing of DNA ends in the maintenance of genome stability","volume":"9","author":"D Bonetti","year":"2018","journal-title":"Front Genet"},{"key":"pgen.1008416.ref026","doi-asserted-by":"crossref","first-page":"42219","DOI":"10.1074\/jbc.M105760200","article-title":"Identification and characterization of RA-GEF-2, a Rap guanine nucleotide exchange factor that serves as a downstream target of M-Ras","volume":"276","author":"X Gao","year":"2001","journal-title":"J Biol Chem"},{"key":"pgen.1008416.ref027","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/S0167-4889(02)00365-8","article-title":"Characterisation of PDZ-GEFs, a family of guanine nucleotide exchange factors specific for Rap1 and Rap2","volume":"1593","author":"HB Kuiperij","year":"2003","journal-title":"Biochim Biphys Acta"},{"key":"pgen.1008416.ref028","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1016\/j.tcb.2011.07.001","article-title":"Regulating Rap small G-proteins in time and space","volume":"21","author":"M Gloerich","year":"2011","journal-title":"Trends Cell Biol"},{"key":"pgen.1008416.ref029","doi-asserted-by":"crossref","first-page":"2949","DOI":"10.1091\/mbc.e07-03-0250","article-title":"The M-Ras-RA-GEF-2-Rap1 pathway mediates tumor necrosis factor-alpha dependent regulation of integrin activation in splenocytes","volume":"18","author":"Y Yoshikawa","year":"2007","journal-title":"Mol Biol Cell"},{"key":"pgen.1008416.ref030","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.bbrc.2014.01.149","article-title":"Critical function of RA-GEF-2\/Rapgef6, a guanine nucleotide exchange factor for Rap1, in mouse spermatogenesis","volume":"445","author":"K Okada","year":"2014","journal-title":"Biochem Biophys Res Commun"},{"key":"pgen.1008416.ref031","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/s13041-018-0370-y","article-title":"Comprehensive behavioral analysis of mice deficient in Rapgef2 and Rapgef6, a subfamily of guanine nucleotide exchange factors for Rap small GTPases possessing the Ras\/Rap-associating domain","volume":"11","author":"K Maeta","year":"2018","journal-title":"Mol Brain"},{"key":"pgen.1008416.ref032","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1055\/s-2007-1008550","article-title":"Die familiaer gehaeufte Rekurrensparese, ein genetisch fixiertes Syndrom: erneut Hinweise fuer eine Kopplung des Defektgens mit dem HLA-System","volume":"61","author":"FX Brunner","year":"1982","journal-title":"Laryng Rhinol Otol"},{"key":"pgen.1008416.ref033","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1177\/000348948209100319","article-title":"Familial laryngeal abductor paralysis with presumed autosomal dominant inheritance","volume":"91","author":"G Morelli","year":"1982","journal-title":"Ann Otol Rhinol Laryng"},{"key":"pgen.1008416.ref034","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1136\/jmg.27.11.715","article-title":"Familial congenital laryngeal abductor paralysis: different expression in a family with one male and three females affected","volume":"27","author":"A Schinzel","year":"1990","journal-title":"J Med Genet"},{"key":"pgen.1008416.ref035","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1111\/j.1939-1676.2002.tb02381.x","article-title":"The effects of doxapram hydrochloride (dopram-V) on laryngeal function in healthy dogs","volume":"16","author":"CJ Miller","year":"2002","journal-title":"J Vet Intern Med"},{"key":"pgen.1008416.ref036","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1111\/vsu.12784","article-title":"Laryngeal mask airway and transient hypercapnic hyperpnea for video-endoscopic assessment of unilateral laryngeal paralysis in dogs","volume":"47","author":"DM Sakai","year":"2018","journal-title":"Vet Surg"},{"key":"pgen.1008416.ref037","doi-asserted-by":"crossref","first-page":"503","DOI":"10.5326\/0380503","article-title":"A comparison of thiopental, propofol, and diazepam-ketamine anesthesia for evaluation of laryngeal function in dogs premedicated with butorphanol-glycopyrrolate","volume":"38","author":"ME Gross","year":"2002","journal-title":"J Am Anim Hosp Assoc"},{"key":"pgen.1008416.ref038","doi-asserted-by":"crossref","first-page":"20","DOI":"10.32614\/RJ-2010-009","article-title":"hglm: A package for fitting hierarchical generalized linear models","volume":"2","author":"L Ronnegard","year":"2010","journal-title":"The R Journal"},{"unstructured":"Turner S (2017) qqman: Q-Q and Manhattan Plots for GWAS Data. R package version 0.1.4. https:\/\/CRAN.R-project.org\/package=qqman","key":"pgen.1008416.ref039"},{"key":"pgen.1008416.ref040","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"H Li","year":"2009","journal-title":"Bioinformatics"},{"key":"pgen.1008416.ref041","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1086\/502802","article-title":"A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase","volume":"78","author":"P Scheet","year":"2006","journal-title":"Am J Hum Genet"},{"key":"pgen.1008416.ref042","doi-asserted-by":"crossref","first-page":"2987","DOI":"10.1093\/bioinformatics\/btr509","article-title":"A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data","volume":"27","author":"H Li","year":"2011","journal-title":"Bioinformatics"},{"key":"pgen.1008416.ref043","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"A McKenna","year":"2010","journal-title":"Genome Res"},{"key":"pgen.1008416.ref044","article-title":"Dog Biomedical Variant Database Consortium (DBVDC). A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and 8 wolves","author":"V Jagannathan","year":"2019","journal-title":"Anim Genet"},{"key":"pgen.1008416.ref045","doi-asserted-by":"crossref","first-page":"D793","DOI":"10.1093\/nar\/gky1041","article-title":"iDog: an integrated resource for domestic dogs and wild canids","volume":"47","author":"B Tang","year":"2019","journal-title":"Nucleic Acids Res"}],"container-title":["PLOS Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pgen.1008416","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T16:09:05Z","timestamp":1721923745000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pgen.1008416"}},"subtitle":[],"editor":[{"given":"Jeffrey J.","family":"Schoenebeck","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2019,10,24]]},"references-count":45,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2019,10,24]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pgen.1008416","relation":{},"ISSN":["1553-7404"],"issn-type":[{"type":"electronic","value":"1553-7404"}],"subject":[],"published":{"date-parts":[[2019,10,24]]}}}