{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:25:44Z","timestamp":1772119544345,"version":"3.50.1"},"reference-count":111,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2025,2,18]],"date-time":"2025-02-18T00:00:00Z","timestamp":1739836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,2,18]],"date-time":"2025-02-18T00:00:00Z","timestamp":1739836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Esther Feigenbaum Foundation"},{"name":"Siemer Family Foundation"},{"DOI":"10.13039\/100006458","name":"Children's Hospital of Philadelphia","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100006458","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Clin. Auton. Res."],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Postural orthostatic tachycardia syndrome (POTS) is a complex disorder with serious health consequences, while its etiology remains largely elusive.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>The purpose of this study was to investigate the genetic landscape of POTS using genomic approaches in a unique pediatric cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted a combined genome wide genotyping and whole exome sequencing (WES) study to systemically examine the molecular mechanisms of POTS pathogenesis. The patients were genotyped as two independent cohorts: a family cohort of 100 complete families and a case\u2013control cohort of 207 unrelated European cases and 4063 ethnicity-matched control subjects. The WES component consisted of a subset of the genotyped subjects, including 87 unrelated European cases and 2719 unrelated European control subjects.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The heterogeneous phenotype of POTS made achieving genome-wide significance improbable. Instead, 5670 SNPs with nominal significance (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u20090.05) were identified in both the family and case\u2013control cohorts, with effects in the same direction. We conducted an over-representation analysis (ORA) by considering all genes that showed nominal significance. The ORA identified gene sets linked to cell\u2013cell junction, early estrogen response, and substance-related disorders with statistical significance. Moreover, WES revealed 55 genes with genome-wide significance through rare variant burden analysis, harboring 92 variants classified as pathogenic or likely pathogenic by ClinVar.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This study showcases the complex interplay between common and rare genetic variants in POTS development, marking a pioneering step forward in deciphering its complex etiologies. The insights from this research enrich our understanding of POTS, offering new avenues for precise treatment strategies and highlighting areas for further research.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s10286-025-01110-2","type":"journal-article","created":{"date-parts":[[2025,2,18]],"date-time":"2025-02-18T02:26:49Z","timestamp":1739845609000},"page":"431-451","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The genetic landscape of pediatric postural orthostatic tachycardia syndrome"],"prefix":"10.1007","volume":"35","author":[{"given":"Huiqi","family":"Qu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingchun","family":"Qu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nolan","family":"Williams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Mentch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Snyder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Lemma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenny","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meckenzie","family":"Behr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"March","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Connolly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Glessner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey R.","family":"Boris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hakon","family":"Hakonarson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,2,18]]},"reference":[{"key":"1110_CR1","doi-asserted-by":"publisher","first-page":"1848212","DOI":"10.1080\/21688370.2020.1848212","volume":"9","author":"MS Adil","year":"2021","unstructured":"Adil MS, Narayanan SP, Somanath PR (2021) Cell-cell junctions: structure and regulation in physiology and pathology. Tissue Barriers 9:1848212","journal-title":"Tissue Barriers"},{"key":"1110_CR2","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1136\/hrt.82.5.547","volume":"82","author":"N Al-Saady","year":"1999","unstructured":"Al-Saady N, Obel O, Camm A (1999) Left atrial appendage: structure, function, and role in thromboembolism. Heart 82:547\u2013554","journal-title":"Heart"},{"key":"1110_CR3","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1038\/nn.2694","volume":"14","author":"SM Baig","year":"2011","unstructured":"Baig SM, Koschak A, Lieb A, Gebhart M, Dafinger C, N\u00fcrnberg G, Ali A, Ahmad I, Sinnegger-Brauns MJ, Brandt N (2011) Loss of Ca v 1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. Nat Neurosci 14:77\u201384","journal-title":"Nat Neurosci"},{"key":"1110_CR4","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1007\/s00424-010-0794-4","volume":"460","author":"MJ Betzenhauser","year":"2010","unstructured":"Betzenhauser MJ, Marks AR (2010) Ryanodine receptor channelopathies. Pfl\u00fcgers Archiv-Eur J Physiol 460:467\u2013480","journal-title":"Pfl\u00fcgers Archiv-Eur J Physiol"},{"key":"1110_CR5","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1016\/S0959-4388(00)00088-X","volume":"10","author":"RD Blakely","year":"2000","unstructured":"Blakely RD, Bauman AL (2000) Biogenic amine transporters: regulation in flux. Curr Opin Neurobiol 10:328\u2013336","journal-title":"Curr Opin Neurobiol"},{"key":"1110_CR6","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1016\/j.autneu.2018.05.004","volume":"215","author":"JR Boris","year":"2018","unstructured":"Boris JR (2018) Postural orthostatic tachycardia syndrome in children and adolescents. Autonomic Neurosci\u202f: Basic Clin 215:97\u2013101","journal-title":"Autonomic Neurosci : Basic Clin"},{"key":"1110_CR7","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1017\/S1047951117002888","volume":"28","author":"JR Boris","year":"2018","unstructured":"Boris JR, Bernadzikowski T (2018) Demographics of a large paediatric Postural Orthostatic Tachycardia Syndrome Program. Cardiol Young 28:668\u2013674","journal-title":"Cardiol Young"},{"key":"1110_CR8","doi-asserted-by":"publisher","first-page":"388","DOI":"10.1017\/S1047951120000165","volume":"30","author":"JR Boris","year":"2020","unstructured":"Boris JR, Huang J, Shuey T, Bernadzikowski T (2020) Family history of associated disorders in patients with postural tachycardia syndrome. Cardiol Young 30:388\u2013394","journal-title":"Cardiol Young"},{"key":"1110_CR9","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1089\/trgh.2019.0041","volume":"4","author":"JR Boris","year":"2019","unstructured":"Boris JR, McClain ZB, Bernadzikowski T (2019) Clinical course of transgender adolescents with complicated postural orthostatic tachycardia syndrome undergoing hormonal therapy in gender transition: a case series. Transgender Health 4:331\u2013334","journal-title":"Transgender Health"},{"key":"1110_CR10","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1016\/S1357-4310(97)01128-3","volume":"3","author":"CD Buckley","year":"1997","unstructured":"Buckley CD, Simmons DL (1997) Cell adhesion: a new target for therapy. Mol Med Today 3:449\u2013456","journal-title":"Mol Med Today"},{"key":"1110_CR11","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1038\/s41580-022-00465-y","volume":"23","author":"CE Buckley","year":"2022","unstructured":"Buckley CE, St Johnston D (2022) Apical\u2013basal polarity and the control of epithelial form and function. Nat Rev Mol Cell Biol 23:559\u2013577","journal-title":"Nat Rev Mol Cell Biol"},{"key":"1110_CR12","doi-asserted-by":"publisher","first-page":"1225","DOI":"10.1038\/s41591-018-0046-2","volume":"24","author":"CY Chen","year":"2018","unstructured":"Chen CY, Caporizzo MA, Bedi K, Vite A, Bogush AI, Robison P, Heffler JG, Salomon AK, Kelly NA, Babu A (2018) Suppression of detyrosinated microtubules improves cardiomyocyte function in human heart failure. Nat Med 24:1225\u20131233","journal-title":"Nat Med"},{"key":"1110_CR13","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1016\/j.autneu.2012.08.003","volume":"171","author":"WP Cheshire","year":"2012","unstructured":"Cheshire WP (2012) Highlights in clinical autonomic neuroscience: new insights into autonomic dysfunction in autism. Auton Neurosci 171:4\u20137","journal-title":"Auton Neurosci"},{"key":"1110_CR14","doi-asserted-by":"publisher","first-page":"D258","DOI":"10.1093\/nar\/gkh036","volume":"32","author":"Consortium GO","year":"2004","unstructured":"Consortium GO (2004) The Gene Ontology (GO) database and informatics resource. Nucleic Acids Res 32:D258\u2013D261","journal-title":"Nucleic Acids Res"},{"key":"1110_CR15","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1016\/j.physbeh.2009.02.027","volume":"97","author":"KS Curtis","year":"2009","unstructured":"Curtis KS (2009) Estrogen and the central control of body fluid balance. Physiol Behav 97:180\u2013192","journal-title":"Physiol Behav"},{"key":"1110_CR16","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1038\/nrg.2016.29","volume":"17","author":"CA De Leeuw","year":"2016","unstructured":"De Leeuw CA, Neale BM, Heskes T, Posthuma D (2016) The statistical properties of gene-set analysis. Nat Rev Genet 17:353\u2013364","journal-title":"Nat Rev Genet"},{"key":"1110_CR17","doi-asserted-by":"publisher","first-page":"333","DOI":"10.3390\/membranes4030333","volume":"4","author":"S De","year":"2014","unstructured":"De S, Kuwahara S, Saito A (2014) The endocytic receptor megalin and its associated proteins in proximal tubule epithelial cells. Membranes (Basel) 4:333\u2013355","journal-title":"Membranes (Basel)"},{"key":"1110_CR18","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1093\/oxfordjournals.molbev.a004093","volume":"19","author":"PR Desjardins","year":"2002","unstructured":"Desjardins PR, Burkman JM, Shrager JB, Allmond LA, Stedman HH (2002) Evolutionary implications of three novel members of the human sarcomeric myosin heavy chain gene family. Mol Biol Evol 19:375\u2013393","journal-title":"Mol Biol Evol"},{"key":"1110_CR19","doi-asserted-by":"publisher","first-page":"1257","DOI":"10.1038\/ncb1784","volume":"10","author":"D Devenport","year":"2008","unstructured":"Devenport D, Fuchs E (2008) Planar polarization in embryonic epidermis orchestrates global asymmetric morphogenesis of hair follicles. Nat Cell Biol 10:1257\u20131268","journal-title":"Nat Cell Biol"},{"key":"1110_CR20","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1111\/j.1535-7597.2004.42001.x","volume":"4","author":"O Devinsky","year":"2004","unstructured":"Devinsky O (2004) Effects of seizures on autonomic and cardiovascular function. Epilepsy currents 4:43\u201346","journal-title":"Epilepsy currents"},{"key":"1110_CR21","doi-asserted-by":"publisher","first-page":"S53","DOI":"10.1002\/jcph.1918","volume":"61","author":"JR Docherty","year":"2021","unstructured":"Docherty JR, Alsufyani HA (2021) Pharmacology of drugs used as stimulants. J Clin Pharmacol 61:S53\u2013S69","journal-title":"J Clin Pharmacol"},{"key":"1110_CR22","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1016\/j.ydbio.2017.01.020","volume":"423","author":"JS Duncan","year":"2017","unstructured":"Duncan JS, Stoller ML, Francl AF, Tissir F, Devenport D, Deans MR (2017) Celsr1 coordinates the planar polarity of vestibular hair cells during inner ear development. Dev Biol 423:126\u2013137","journal-title":"Dev Biol"},{"key":"1110_CR23","doi-asserted-by":"crossref","unstructured":"Ebert TJ (2013) Autonomic nervous system pharmacology. Pharmacology and Physiology for Anesthesia, Saunders, Philadelphia:218\u2013234","DOI":"10.1016\/B978-1-4377-1679-5.00013-2"},{"key":"1110_CR24","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1186\/s40246-019-0206-6","volume":"13","author":"KL Evans","year":"2019","unstructured":"Evans KL, Wirtz HS, Li J, She R, Maya J, Gui H, Hamer A, Depre C, Lanfear DE (2019) Genetics of heart rate in heart failure patients (GenHRate). Hum Genom 13:22","journal-title":"Hum Genom"},{"key":"1110_CR25","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1002\/ajmg.1320570319","volume":"57","author":"WJ Ewens","year":"1995","unstructured":"Ewens WJ, Spielman RS (1995) The transmission\/disequilibrium test: history, subdivision, and admixture. Am J Hum Genet 57:455\u2013464","journal-title":"Am J Hum Genet"},{"key":"1110_CR26","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1096\/fasebj.10.5.8621060","volume":"10","author":"MY Farhat","year":"1996","unstructured":"Farhat MY, Lavigne MC, Ramwell PW (1996) The vascular protective effects of estrogen. FASEB J 10:615\u2013624","journal-title":"FASEB J"},{"key":"1110_CR27","unstructured":"Fedorowski A Postural orthostatic tachycardia syndrome: clinical presentation, aetiology and management. Journal of Internal Medicine 0"},{"key":"1110_CR28","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1111\/joim.12852","volume":"285","author":"A Fedorowski","year":"2019","unstructured":"Fedorowski A (2019) Postural orthostatic tachycardia syndrome: clinical presentation, aetiology and management. J Intern Med 285:352\u2013366","journal-title":"J Intern Med"},{"key":"1110_CR29","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1007\/s12264-012-1232-8","volume":"28","author":"J Feng","year":"2012","unstructured":"Feng J, Han Q, Zhou L (2012) Planar cell polarity genes, Celsr1-3, in neural development. Neurosci Bull 28:309\u2013315","journal-title":"Neurosci Bull"},{"key":"1110_CR30","doi-asserted-by":"publisher","first-page":"4774","DOI":"10.1093\/nar\/gks169","volume":"40","author":"P Galichon","year":"2012","unstructured":"Galichon P, Mesnard L, Hertig A, Stengel B, Rondeau E (2012) Unrecognized sequence homologies may confound genome-wide association studies. Nucleic Acids Res 40:4774\u20134782","journal-title":"Nucleic Acids Res"},{"key":"1110_CR31","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1007\/s00109-006-0060-6","volume":"84","author":"B Gerull","year":"2006","unstructured":"Gerull B, Atherton J, Geupel A, Sasse-Klaassen S, Heuser A, Frenneaux M, McNabb M, Granzier H, Labeit S, Thierfelder L (2006) Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy. J Mol Med 84:478\u2013483","journal-title":"J Mol Med"},{"key":"1110_CR32","first-page":"464","volume":"323","author":"A Ghuran","year":"2001","unstructured":"Ghuran A, van Der Wieken L, Nolan J (2001) Cardiovascular complications of recreational drugs: are an important cause of morbidity and mortality. British Med J Publishing Group 323:464\u2013466","journal-title":"British Med J Publishing Group"},{"key":"1110_CR33","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0084716","volume":"8","author":"CH Gibbons","year":"2013","unstructured":"Gibbons CH, Bonyhay I, Benson A, Wang N, Freeman R (2013) Structural and functional small fiber abnormalities in the neuropathic postural tachycardia syndrome. PLoS ONE 8:e84716","journal-title":"PLoS ONE"},{"key":"1110_CR34","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1038\/s41588-018-0303-9","volume":"51","author":"A Giri","year":"2019","unstructured":"Giri A, Hellwege JN, Keaton JM, Park J, Qiu C, Warren HR, Torstenson ES, Kovesdy CP, Sun YV, Wilson OD, Robinson-Cohen C, Roumie CL, Chung CP, Birdwell KA, Damrauer SM, DuVall SL, Klarin D, Cho K, Wang Y, Evangelou E, Cabrera CP, Wain LV, Shrestha R, Mautz BS, Akwo EA, Sargurupremraj M, Debette S, Boehnke M, Scott LJ, Luan J, Zhao JH, Willems SM, Th\u00e9riault S, Shah N, Oldmeadow C, Almgren P, Li-Gao R, Verweij N, Boutin TS, Mangino M, Ntalla I, Feofanova E, Surendran P, Cook JP, Karthikeyan S, Lahrouchi N, Liu C, Sep\u00falveda N, Richardson TG, Kraja A, Amouyel P, Farrall M, Poulter NR, Laakso M, Zeggini E, Sever P, Scott RA, Langenberg C, Wareham NJ, Conen D, Palmer CNA, Attia J, Chasman DI, Ridker PM, Melander O, Mook-Kanamori DO, Harst PV, Cucca F, Schlessinger D, Hayward C, Spector TD, Jarvelin MR, Hennig BJ, Timpson NJ, Wei WQ, Smith JC, Xu Y, Matheny ME, Siew EE, Lindgren C, Herzig KH, Dedoussis G, Denny JC, Psaty BM, Howson JMM, Munroe PB, Newton-Cheh C, Caulfield MJ, Elliott P, Gaziano JM, Concato J, Wilson PWF, Tsao PS, Velez Edwards DR, Susztak K, O\u2019Donnell CJ, Hung AM, Edwards TL (2019) Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. Nat Genet 51:51\u201362","journal-title":"Nat Genet"},{"key":"1110_CR35","doi-asserted-by":"publisher","first-page":"522","DOI":"10.1016\/j.ajhg.2018.08.016","volume":"103","author":"MH Guo","year":"2018","unstructured":"Guo MH, Plummer L, Chan Y-M, Hirschhorn JN, Lippincott MF (2018) Burden testing of rare variants identified through exome sequencing via publicly available control data. The Am J Human Genet 103:522\u2013534","journal-title":"The Am J Human Genet"},{"key":"1110_CR36","doi-asserted-by":"publisher","first-page":"956","DOI":"10.1002\/mus.24245","volume":"50","author":"CA Haensch","year":"2014","unstructured":"Haensch CA, Tosch M, Katona I, Weis J, Isenmann S (2014) Small-fiber neuropathy with cardiac denervation in postural tachycardia syndrome. Muscle Nerve 50:956\u2013961","journal-title":"Muscle Nerve"},{"key":"1110_CR37","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1017\/thg.2017.16","volume":"20","author":"J Hecker","year":"2017","unstructured":"Hecker J, Maaser A, Prokopenko D, Fier HL, Lange C (2017) Reporting correct p values in VEGAS analyses. Twin Res Human Genet\u202f: Official J Int Soc Twin Studies 20:257\u2013259","journal-title":"Twin Res Human Genet : The Official J Int Soc Twin Studies"},{"key":"1110_CR38","unstructured":"Herrington DM, McClain BP (2005) Sex hormones and normal cardiovascular physiology in women. Women Heart Dis. 478\u2013508"},{"key":"1110_CR39","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1016\/j.tins.2004.05.012","volume":"27","author":"S Hippenmeyer","year":"2004","unstructured":"Hippenmeyer S, Kramer I, Arber S (2004) Control of neuronal phenotype: what targets tell the cell bodies. Trends Neurosci 27:482\u2013488","journal-title":"Trends Neurosci"},{"key":"1110_CR40","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1038\/ng.3715","volume":"49","author":"TJ Hoffmann","year":"2017","unstructured":"Hoffmann TJ, Ehret GB, Nandakumar P, Ranatunga D, Schaefer C, Kwok PY, Iribarren C, Chakravarti A, Risch N (2017) Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. Nat Genet 49:54\u201364","journal-title":"Nat Genet"},{"key":"1110_CR41","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1111\/ahg.12023","volume":"77","author":"JM Jeff","year":"2013","unstructured":"Jeff JM, Ritchie MD, Denny JC, Kho AN, Ramirez AH, Crosslin D, Armstrong L, Basford MA, Wolf WA, Pacheco JA, Chisholm RL, Roden DM, Hayes MG, Crawford DC (2013) Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans. Ann Hum Genet 77:321\u2013332","journal-title":"Ann Hum Genet"},{"key":"1110_CR42","doi-asserted-by":"crossref","unstructured":"Jordan S (2010) Recreational drugs. Pharmacology for Midwives: The Evidence Base for Safe Practice:395","DOI":"10.1007\/978-0-230-36570-4_20"},{"key":"1110_CR43","doi-asserted-by":"publisher","first-page":"626","DOI":"10.1002\/clc.20805","volume":"33","author":"K Kanjwal","year":"2010","unstructured":"Kanjwal K, Karabin B, Kanjwal Y, Saeed B, Grubb BP (2010) Autonomic dysfunction presenting as orthostatic intolerance in patients suffering from mitochondrial cytopathy. Clin Cardiol 33:626\u2013629","journal-title":"Clin Cardiol"},{"key":"1110_CR44","doi-asserted-by":"publisher","first-page":"D840","DOI":"10.1093\/nar\/gkw971","volume":"45","author":"KJ Karczewski","year":"2017","unstructured":"Karczewski KJ, Weisburd B, Thomas B, Solomonson M, Ruderfer DM, Kavanagh D, Hamamsy T, Lek M, Samocha KE, Cummings BB (2017) The ExAC browser: displaying reference data information from over 60 000 exomes. Nucleic Acids Res 45:D840\u2013D845","journal-title":"Nucleic Acids Res"},{"key":"1110_CR45","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.ajhg.2018.11.008","volume":"104","author":"G Kichaev","year":"2019","unstructured":"Kichaev G, Bhatia G, Loh PR, Gazal S, Burch K, Freund MK, Schoech A, Pasaniuc B, Price AL (2019) Leveraging polygenic functional enrichment to improve GWAS power. Am J Hum Genet 104:65\u201375","journal-title":"Am J Hum Genet"},{"key":"1110_CR46","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1085\/jgp.200308941","volume":"122","author":"I Kulikovskaya","year":"2003","unstructured":"Kulikovskaya I, McClellan G, Flavigny J, Carrier L, Winegrad S (2003) Effect of MyBP-C binding to actin on contractility in heart muscle. J Gen Physiol 122:761\u2013774","journal-title":"J Gen Physiol"},{"key":"1110_CR47","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1002\/ana.10278","volume":"52","author":"E Lamantea","year":"2002","unstructured":"Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M (2002) Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 52:211\u2013219","journal-title":"Ann Neurol"},{"key":"1110_CR48","doi-asserted-by":"publisher","first-page":"D862","DOI":"10.1093\/nar\/gkv1222","volume":"44","author":"MJ Landrum","year":"2016","unstructured":"Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Hoover J (2016) ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res 44:D862\u2013D868","journal-title":"Nucleic Acids Res"},{"key":"1110_CR49","doi-asserted-by":"publisher","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","volume":"46","author":"MJ Landrum","year":"2018","unstructured":"Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Jang W, Karapetyan K, Katz K, Liu C, Maddipatla Z, Malheiro A, McDaniel K, Ovetsky M, Riley G, Zhou G, Holmes JB, Kattman BL, Maglott DR (2018) ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res 46:D1062\u2013D1067","journal-title":"Nucleic Acids Res"},{"key":"1110_CR50","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1007\/s10974-012-9283-z","volume":"33","author":"W Lehman","year":"2012","unstructured":"Lehman W, Morgan KG (2012) Structure and dynamics of the actin-based smooth muscle contractile and cytoskeletal apparatus. J Muscle Res Cell Motil 33:461\u2013469","journal-title":"J Muscle Res Cell Motil"},{"key":"1110_CR51","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0092207","volume":"9","author":"Y Lei","year":"2014","unstructured":"Lei Y, Zhu H, Yang W, Ross ME, Shaw GM, Finnell RH (2014) Identification of novel CELSR1 mutations in spina bifida. PLoS ONE 9:e92207","journal-title":"PLoS ONE"},{"key":"1110_CR52","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1186\/s13073-020-00742-5","volume":"12","author":"CM Lewis","year":"2020","unstructured":"Lewis CM, Vassos E (2020) Polygenic risk scores: from research tools to clinical instruments. Genome Med 12:44","journal-title":"Genome Med"},{"key":"1110_CR53","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/j.ajhg.2017.01.004","volume":"100","author":"Q Li","year":"2017","unstructured":"Li Q, Wang K (2017) InterVar: clinical interpretation of genetic variants by the 2015 ACMG-AMP guidelines. Am J Hum Genet 100:267\u2013280","journal-title":"Am J Hum Genet"},{"key":"1110_CR54","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1016\/j.cels.2015.12.004","volume":"1","author":"A Liberzon","year":"2015","unstructured":"Liberzon A, Birger C, Thorvaldsd\u00f3ttir H, Ghandi M, Mesirov JP, Tamayo P (2015) The Molecular Signatures Database (MSigDB) hallmark gene set collection. Cell Syst 1:417\u2013425","journal-title":"Cell Syst"},{"key":"1110_CR55","doi-asserted-by":"publisher","first-page":"H2188","DOI":"10.1152\/ajpheart.00256.2003","volume":"285","author":"C Liu","year":"2003","unstructured":"Liu C, Kuo TB, Yang CC (2003) Effects of estrogen on gender-related autonomic differences in humans. Am J Physiol-Heart Circulatory Physiol 285:H2188\u2013H2193","journal-title":"Am J Physiol-Heart Circulatory Physiol"},{"key":"1110_CR56","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1186\/s12931-022-02039-0","volume":"23","author":"Y Liu","year":"2022","unstructured":"Liu Y, Qu HQ, Qu J, Chang X, Mentch FD, Nguyen K, Tian L, Glessner J, Sleiman PMA, Hakonarson H (2022) Burden of rare coding variants reveals genetic heterogeneity between obese and non-obese asthma patients in the African American population. Respir Res 23:116","journal-title":"Respir Res"},{"key":"1110_CR57","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1038\/ng.2653","volume":"45","author":"J Lonsdale","year":"2013","unstructured":"Lonsdale J, Thomas J, Salvatore M, Phillips R, Lo E, Shad S, Hasz R, Walters G, Garcia F, Young N (2013) The genotype-tissue expression (GTEx) project. Nat Genet 45:580\u2013585","journal-title":"Nat Genet"},{"key":"1110_CR58","doi-asserted-by":"crossref","unstructured":"Low PA, Sandroni P (2012) Postural tachycardia syndrome (POTS). In: Primer on the Autonomic Nervous System. Elsevier, p 517\u2013519","DOI":"10.1016\/B978-0-12-386525-0.00106-2"},{"key":"1110_CR59","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1111\/j.1540-8167.2008.01407.x","volume":"20","author":"PA Low","year":"2009","unstructured":"Low PA, Sandroni P, Joyner M, SHEN WK (2009) Postural tachycardia syndrome (POTS). J Cardiovasc Electrophysiol 20:352\u2013358","journal-title":"J Cardiovasc Electrophysiol"},{"key":"1110_CR60","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1146\/annurev.physiol.66.032802.154945","volume":"66","author":"A Maggi","year":"2004","unstructured":"Maggi A, Ciana P, Belcredito S, Vegeto E (2004) Estrogens in the nervous system: mechanisms and nonreproductive functions. Annu Rev Physiol 66:291\u2013313","journal-title":"Annu Rev Physiol"},{"key":"1110_CR61","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1016\/j.jbspin.2012.11.008","volume":"80","author":"M Mart\u00edn-Mill\u00e1n","year":"2013","unstructured":"Mart\u00edn-Mill\u00e1n M, Casta\u00f1eda S (2013) Estrogens, osteoarthritis and inflammation. Jt Bone Spine 80:368\u2013373","journal-title":"Jt Bone Spine"},{"key":"1110_CR62","doi-asserted-by":"publisher","DOI":"10.1016\/j.autrev.2020.102468","volume":"19","author":"J Merrheim","year":"2020","unstructured":"Merrheim J, Villegas J, Van Wassenhove J, Khansa R, Berrih-Aknin S, Le Panse R, Dragin N (2020) Estrogen, estrogen-like molecules and autoimmune diseases. Autoimmun Rev 19:102468","journal-title":"Autoimmun Rev"},{"key":"1110_CR63","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1017\/thg.2014.79","volume":"18","author":"A Mishra","year":"2014","unstructured":"Mishra A, Macgregor S (2014) VEGAS2: software for more flexible gene-based testing. Twin Res Hum Genet 18:86\u201391","journal-title":"Twin Res Hum Genet"},{"key":"1110_CR64","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1016\/S2213-2600(20)30101-6","volume":"8","author":"M Moll","year":"2020","unstructured":"Moll M, Sakornsakolpat P, Shrine N, Hobbs BD, DeMeo DL, John C, Guyatt AL, McGeachie MJ, Gharib SA, Obeidat M, Lahousse L, Wijnant SRA, Brusselle G, Meyers DA, Bleecker ER, Li X, Tal-Singer R, Manichaikul A, Rich SS, Won S, Kim WJ, Do AR, Washko GR, Barr RG, Psaty BM, Bartz TM, Hansel NN, Barnes K, Hokanson JE, Crapo JD, Lynch D, Bakke P, Gulsvik A, Hall IP, Wain L, Weiss ST, Silverman EK, Dudbridge F, Tobin MD, Cho MH (2020) Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts. Lancet Respir Med 8:696\u2013708","journal-title":"Lancet Respir Med"},{"key":"1110_CR65","doi-asserted-by":"publisher","first-page":"5557","DOI":"10.1210\/en.2006-0729","volume":"147","author":"K Moriarty","year":"2006","unstructured":"Moriarty K, Kim K, Bender J (2006) Estrogen receptor-mediated rapid signaling. Endocrinology 147:5557\u20135563","journal-title":"Endocrinology"},{"key":"1110_CR66","doi-asserted-by":"publisher","first-page":"e1462","DOI":"10.1002\/wsbm.1462","volume":"12","author":"K Mukund","year":"2020","unstructured":"Mukund K, Subramaniam S (2020) Skeletal muscle: a review of molecular structure and function, in health and disease. Wiley Interdiscip Rev Syst Biol Med 12:e1462\u2013e1462","journal-title":"Wiley Interdiscip Rev Syst Biol Med"},{"key":"1110_CR67","doi-asserted-by":"publisher","first-page":"17073","DOI":"10.1074\/jbc.273.27.17073","volume":"273","author":"Y Ono","year":"1998","unstructured":"Ono Y, Shimada H, Sorimachi H, Richard I, Saido TC, Beckmann JS, Ishiura S, Suzuki K (1998) Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. J Biol Chem 273:17073\u201317078","journal-title":"J Biol Chem"},{"key":"1110_CR68","doi-asserted-by":"publisher","DOI":"10.3389\/fnint.2021.787037","volume":"15","author":"AP Owens","year":"2021","unstructured":"Owens AP, Mathias CJ, Iodice V (2021) Autonomic dysfunction in autism spectrum disorder. Front Integr Neurosci 15:787037","journal-title":"Front Integr Neurosci"},{"key":"1110_CR69","doi-asserted-by":"publisher","first-page":"233","DOI":"10.3390\/cells7120233","volume":"7","author":"R Pala","year":"2018","unstructured":"Pala R, Jamal M, Alshammari Q, Nauli SM (2018) The roles of primary cilia in cardiovascular diseases. Cells 7:233","journal-title":"Cells"},{"key":"1110_CR70","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1016\/j.ijgo.2012.04.014","volume":"118","author":"KJ Peggs","year":"2012","unstructured":"Peggs KJ, Nguyen H, Enayat D, Keller NR, Al-Hendy A, Raj SR (2012) Gynecologic disorders and menstrual cycle lightheadedness in postural tachycardia syndrome. Int J Gynecol Obstet 118:242\u2013246","journal-title":"Int J Gynecol Obstet"},{"key":"1110_CR71","doi-asserted-by":"crossref","unstructured":"Pertea M, Shumate A, Pertea G, Varabyou A, Chang Y-C, Madugundu AK, Pandey A, Salzberg SL (2018) Thousands of large-scale RNA sequencing experiments yield a comprehensive new human gene list and reveal extensive transcriptional noise. bioRxiv:332825","DOI":"10.1101\/332825"},{"key":"1110_CR72","doi-asserted-by":"crossref","unstructured":"Pi\u00f1ero J, Bravo \u00c0, Queralt-Rosinach N, Guti\u00e9rrez-Sacrist\u00e1n A, Deu-Pons J, Centeno E, Garc\u00eda-Garc\u00eda J, Sanz F, Furlong LI (2016) DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants. Nucleic acids research:gkw943","DOI":"10.1093\/nar\/gkw943"},{"key":"1110_CR73","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1002\/dev.20228","volume":"49","author":"SW Porges","year":"2007","unstructured":"Porges SW, Heilman KJ, Bazhenova OV, Bal E, Doussard-Roosevelt JA, Koledin M (2007) Does motor activity during psychophysiological paradigms confound the quantification and interpretation of heart rate and heart rate variability measures in young children? Developmental Psychobiol: The J Int Soc Developmental Psychobiol 49:485\u2013494","journal-title":"Developmental Psychobiol: The J Int Soc Developmental Psychobiol"},{"key":"1110_CR74","doi-asserted-by":"publisher","first-page":"19345","DOI":"10.1038\/srep19345","volume":"6","author":"PA Postila","year":"2016","unstructured":"Postila PA, Vattulainen I, R\u00f3g T (2016) Selective effect of cell membrane on synaptic neurotransmission. Sci Rep 6:19345","journal-title":"Sci Rep"},{"key":"1110_CR75","doi-asserted-by":"publisher","first-page":"904","DOI":"10.1038\/ng1847","volume":"38","author":"AL Price","year":"2006","unstructured":"Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38:904\u2013909","journal-title":"Nat Genet"},{"key":"1110_CR76","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1086\/519795","volume":"81","author":"S Purcell","year":"2007","unstructured":"Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, De Bakker PI, Daly MJ (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. The Am J Human Genet 81:559\u2013575","journal-title":"The Am J Human Genet"},{"key":"1110_CR77","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1111\/j.1749-6632.2012.06492.x","volume":"1253","author":"GA Rabinovich","year":"2012","unstructured":"Rabinovich GA, Van Kooyk Y, Cobb BA (2012) Glycobiology of immune responses. Ann N Y Acad Sci 1253:1\u201315","journal-title":"Ann N Y Acad Sci"},{"key":"1110_CR78","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1038\/s41582-018-0101-0","volume":"15","author":"S Rahman","year":"2019","unstructured":"Rahman S, Copeland WC (2019) POLG-related disorders and their neurological manifestations. Nat Rev Neurol 15:40\u201352","journal-title":"Nat Rev Neurol"},{"key":"1110_CR79","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1016\/j.autneu.2018.03.004","volume":"215","author":"V Raj","year":"2018","unstructured":"Raj V, Opie M, Arnold AC (2018) Cognitive and psychological issues in postural tachycardia syndrome. Autonomic Neurosci\u202f: Basic Clin 215:46\u201355","journal-title":"Autonomic Neurosci : Basic Clin"},{"key":"1110_CR80","doi-asserted-by":"publisher","first-page":"e5","DOI":"10.1017\/erm.2013.6","volume":"15","author":"D Rajgor","year":"2013","unstructured":"Rajgor D, Shanahan CM (2013) Nesprins: from the nuclear envelope and beyond. Expert Rev Mol Med 15:e5\u2013e5","journal-title":"Expert Rev Mol Med"},{"key":"1110_CR81","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1055\/s-0033-1334092","volume":"22","author":"C Recek","year":"2013","unstructured":"Recek C (2013) Calf pump activity influencing venous hemodynamics in the lower extremity. Int J Angiol 22:23\u201330","journal-title":"Int J Angiol"},{"key":"1110_CR82","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1111\/j.1399-0004.2010.01436.x","volume":"77","author":"PN Robinson","year":"2010","unstructured":"Robinson PN, Mundlos S (2010) The human phenotype ontology. Clin Genet 77:525\u2013534","journal-title":"Clin Genet"},{"key":"1110_CR83","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1006\/bbrc.1999.1221","volume":"262","author":"M Satoh","year":"1999","unstructured":"Satoh M, Takahashi M, Sakamoto T, Hiroe M, Marumo F, Kimura A (1999) Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem Biophys Res Commun 262:411\u2013417","journal-title":"Biochem Biophys Res Commun"},{"key":"1110_CR84","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1212\/WNL.43.1_Part_1.132","volume":"43","author":"R Schondorf","year":"1993","unstructured":"Schondorf R, Low PA (1993) Idiopathic postural orthostatic tachycardia syndrome: an attenuated form of acute pandysautonomia? Neurology 43:132\u2013137","journal-title":"Neurology"},{"key":"1110_CR85","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1056\/NEJM200002243420803","volume":"342","author":"JR Shannon","year":"2000","unstructured":"Shannon JR, Flattem NL, Jordan J, Jacob G, Black BK, Biaggioni I, Blakely RD, Robertson D (2000) Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency. N Engl J Med 342:541\u2013549","journal-title":"N Engl J Med"},{"key":"1110_CR86","doi-asserted-by":"publisher","first-page":"e41","DOI":"10.1016\/j.hrthm.2015.03.029","volume":"12","author":"RS Sheldon","year":"2015","unstructured":"Sheldon RS, Grubb BP II, Olshansky B, Shen W-K, Calkins H, Brignole M, Raj SR, Krahn AD, Morillo CA, Stewart JM, Sutton R, Sandroni P, Friday KJ, Hachul DT, Cohen MI, Lau DH, Mayuga KA, Moak JP, Sandhu RK, Kanjwal K (2015) 2015 Heart Rhythm Society Expert Consensus Statement on the diagnosis and treatment of postural tachycardia syndrome, inappropriate sinus tachycardia, and vasovagal syncope. Heart Rhythm 12:e41\u2013e63","journal-title":"Heart Rhythm"},{"key":"1110_CR87","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1038\/72793","volume":"24","author":"MC Simmler","year":"2000","unstructured":"Simmler MC, Cohen-Salmon M, El-Amraoui A, Guillaud L, Benichou JC, Petit C, Panthier JJ (2000) Targeted disruption of otog results in deafness and severe imbalance. Nat Genet 24:139\u2013143","journal-title":"Nat Genet"},{"key":"1110_CR88","doi-asserted-by":"publisher","first-page":"810","DOI":"10.1038\/npp.2017.181","volume":"43","author":"E Solis","year":"2018","unstructured":"Solis E, Cameron-Burr KT, Shaham Y, Kiyatkin EA (2018) Fentanyl-induced brain hypoxia triggers brain hyperglycemia and biphasic changes in brain temperature. Neuropsychopharmacology 43:810\u2013819","journal-title":"Neuropsychopharmacology"},{"key":"1110_CR89","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1111\/j.1600-065X.2009.00795.x","volume":"230","author":"M Sperandio","year":"2009","unstructured":"Sperandio M, Gleissner CA, Ley K (2009) Glycosylation in immune cell trafficking. Immunol Rev 230:97\u2013113","journal-title":"Immunol Rev"},{"key":"1110_CR90","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1002\/humu.10212","volume":"21","author":"PD Stenson","year":"2003","unstructured":"Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN (2003) Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 21:577\u2013581","journal-title":"Hum Mutat"},{"key":"1110_CR91","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2017-1673","volume":"141","author":"JM Stewart","year":"2018","unstructured":"Stewart JM, Boris JR, Chelimsky G, Fischer PR, Fortunato JE, Grubb BP, Heyer GL, Jarjour IT, Medow MS, Numan MT, Pianosi PT, Singer W, Tarbell S, Chelimsky TC (2018) Pediatric disorders of orthostatic intolerance. Pediatrics 141:e20171673","journal-title":"Pediatrics"},{"key":"1110_CR92","doi-asserted-by":"publisher","first-page":"H665","DOI":"10.1152\/ajpheart.00784.2005","volume":"290","author":"JM Stewart","year":"2006","unstructured":"Stewart JM, Medow MS, Glover JL, Montgomery LD (2006) Persistent splanchnic hyperemia during upright tilt in postural tachycardia syndrome. Am J Physiol-Heart Circulatory Physiol 290:H665\u2013H673","journal-title":"Am J Physiol-Heart Circulatory Physiol"},{"key":"1110_CR93","doi-asserted-by":"publisher","first-page":"H1216","DOI":"10.1152\/ajpheart.00738.2003","volume":"286","author":"JM Stewart","year":"2004","unstructured":"Stewart JM, Medow MS, Montgomery LD, McLeod K (2004) Decreased skeletal muscle pump activity in patients with postural tachycardia syndrome and low peripheral blood flow. American journal of physiology. Heart Circ Physiol 286:H1216-1222","journal-title":"Heart Circ Physiol"},{"key":"1110_CR94","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1007\/s11906-020-01037-1","volume":"22","author":"Y Sun","year":"2020","unstructured":"Sun Y, Lu X, Danser AHJ (2020) Megalin: a novel determinant of renin-angiotensin system activity in the kidney? Curr Hypertens Rep 22:30","journal-title":"Curr Hypertens Rep"},{"key":"1110_CR95","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a018267","volume":"10","author":"T Svitkina","year":"2018","unstructured":"Svitkina T (2018) The actin cytoskeleton and actin-based motility. Cold Spring Harb Perspect Biol 10:a018267","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"1110_CR96","doi-asserted-by":"publisher","first-page":"876","DOI":"10.1161\/CIRCULATIONAHA.110.005405","volume":"124","author":"M Taylor","year":"2011","unstructured":"Taylor M, Graw S, Sinagra G, Barnes C, Slavov D, Brun F, Pinamonti B, Salcedo EE, Sauer W, Pyxaras S, Anderson B, Simon B, Bogomolovas J, Labeit S, Granzier H, Mestroni L (2011) Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes. Circulation 124:876\u2013885","journal-title":"Circulation"},{"key":"1110_CR97","doi-asserted-by":"publisher","first-page":"2049","DOI":"10.1016\/S0006-2952(03)00159-X","volume":"65","author":"Y Toyohira","year":"2003","unstructured":"Toyohira Y, Utsunomiya K, Ueno S, Minami K, Uezono Y, Yoshimura R, Tsutsui M, Izumi F, Yanagihara N (2003) Inhibition of the norepinephrine transporter function in cultured bovine adrenal medullary cells by bisphenol A. Biochem Pharmacol 65:2049\u20132054","journal-title":"Biochem Pharmacol"},{"key":"1110_CR98","doi-asserted-by":"publisher","first-page":"682","DOI":"10.1126\/science.8097594","volume":"260","author":"H Tsutsui","year":"1993","unstructured":"Tsutsui H, Ishihara K, Cooper G (1993) Cytoskeletal role in the contractile dysfunction of hypertrophied myocardium. Science 260:682\u2013687","journal-title":"Science"},{"key":"1110_CR99","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1016\/j.neures.2011.09.001","volume":"71","author":"Y Uchino","year":"2011","unstructured":"Uchino Y, Kushiro K (2011) Differences between otolith- and semicircular canal-activated neural circuitry in the vestibular system. Neurosci Res 71:315\u2013327","journal-title":"Neurosci Res"},{"key":"1110_CR100","doi-asserted-by":"publisher","first-page":"662","DOI":"10.1016\/j.devcel.2009.10.013","volume":"17","author":"E van Rooij","year":"2009","unstructured":"van Rooij E, Quiat D, Johnson BA, Sutherland LB, Qi X, Richardson JA, Kelm RJ Jr, Olson EN (2009) A family of microRNAs encoded by myosin genes governs myosin expression and muscle performance. Dev Cell 17:662\u2013673","journal-title":"Dev Cell"},{"key":"1110_CR101","doi-asserted-by":"publisher","first-page":"e39655","DOI":"10.7554\/eLife.39655","volume":"7","author":"L Vuolo","year":"2018","unstructured":"Vuolo L, Stevenson NL, Heesom KJ, Stephens DJ (2018) Dynein-2 intermediate chains play crucial but distinct roles in primary cilia formation and function. Elife 7:e39655","journal-title":"Elife"},{"key":"1110_CR102","doi-asserted-by":"publisher","first-page":"W77","DOI":"10.1093\/nar\/gkt439","volume":"41","author":"J Wang","year":"2013","unstructured":"Wang J, Duncan D, Shi Z, Zhang B (2013) WEB-based GEne SeT AnaLysis toolkit (WebGestalt): update 2013. Nucleic Acids Res 41:W77\u2013W83","journal-title":"Nucleic Acids Res"},{"key":"1110_CR103","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38:e164\u2013e164","journal-title":"Nucleic Acids Res"},{"key":"1110_CR104","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0153566","volume":"11","author":"Y Wang","year":"2016","unstructured":"Wang Y, Zekveld AA, Naylor G, Ohlenforst B, Jansma EP, Lorens A, Lunner T, Kramer SE (2016) Parasympathetic nervous system dysfunction, as identified by pupil light reflex, and its possible connection to hearing impairment. PLoS ONE 11:e0153566","journal-title":"PLoS ONE"},{"key":"1110_CR105","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1016\/S0144-8617(00)00249-6","volume":"44","author":"S Withers","year":"2001","unstructured":"Withers S (2001) Mechanisms of glycosyl transferases and hydrolases. Carbohyd Polym 44:325\u2013337","journal-title":"Carbohyd Polym"},{"key":"1110_CR106","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1002\/ijc.20531","volume":"113","author":"M Yano","year":"2005","unstructured":"Yano M, Toyooka S, Tsukuda K, Dote H, Ouchida M, Hanabata T, Aoe M, Date H, Gazdar AF, Shimizu N (2005) Aberrant promoter methylation of human DAB2 interactive protein (hDAB2IP) gene in lung cancers. Int J Cancer 113:59\u201366","journal-title":"Int J Cancer"},{"key":"1110_CR107","doi-asserted-by":"publisher","first-page":"661","DOI":"10.1083\/jcb.200406038","volume":"167","author":"M Yi","year":"2004","unstructured":"Yi M, Weaver D, Gr H (2004) Control of mitochondrial motility and distribution by the calcium signal a homeostatic circuit. J Cell Biol 167:661\u2013672","journal-title":"J Cell Biol"},{"key":"1110_CR108","doi-asserted-by":"crossref","unstructured":"Yun E-J, Wu K, Tsai Y-S, Xie D, Hsieh J-T (2013) The functional role of DAB2IP, a homeostatic factor, in prostate cancer. In: Prostate Cancer. Springer, p 275\u2013293","DOI":"10.1007\/978-1-4614-6828-8_10"},{"key":"1110_CR109","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1023\/A:1005600118157","volume":"21","author":"D Zhang","year":"2000","unstructured":"Zhang D, Jin N, Rhoades RA, Yancey KW, Swartz DR (2000) Influence of microtubules on vascular smooth muscle contraction. J Muscle Res Cell Motil 21:293\u2013300","journal-title":"J Muscle Res Cell Motil"},{"key":"1110_CR110","doi-asserted-by":"publisher","first-page":"2816","DOI":"10.1093\/hmg\/ddm238","volume":"16","author":"Q Zhang","year":"2007","unstructured":"Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA, Skepper JN, Vorgerd M, Schlotter-Weigel B, Weissberg PL, Roberts RG, Wehnert M, Shanahan CM (2007) Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet 16:2816\u20132833","journal-title":"Hum Mol Genet"},{"key":"1110_CR111","doi-asserted-by":"publisher","first-page":"6","DOI":"10.4103\/VIT.VIT_5_20","volume":"3","author":"J Zheng","year":"2020","unstructured":"Zheng J, Zhang H, Guo J, Dou F, Chen J, Yu Z, Chen C, Liu T (2020) Polygonum multiflorum and Codonopsis pilosula granule alleviates atherosclerosis by inhibiting the expression of DAB2IP-ASK1 pathway in vascular endothelial cells. Vascular Investigation Therapy 3:6","journal-title":"Vascular Investigation Therapy"}],"container-title":["Clinical Autonomic Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10286-025-01110-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10286-025-01110-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10286-025-01110-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,4]],"date-time":"2025-06-04T12:02:37Z","timestamp":1749038557000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10286-025-01110-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,18]]},"references-count":111,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["1110"],"URL":"https:\/\/doi.org\/10.1007\/s10286-025-01110-2","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2024.05.03.24306814","asserted-by":"object"}]},"ISSN":["0959-9851","1619-1560"],"issn-type":[{"value":"0959-9851","type":"print"},{"value":"1619-1560","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,18]]},"assertion":[{"value":"3 May 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 January 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 February 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declared no potential conflicts of interest with respect to the research, authorship, and\/or publication of this article.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Informed consent was obtained from all subjects, or if subjects are under 18 years, from a parent and\/or legal guardian with assent from the child if 7\u00a0years or older. The Institutional Review Board (IRB) of CHOP approved this study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}]}}