{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,1,29]],"date-time":"2025-01-29T05:52:12Z","timestamp":1738129932423,"version":"3.33.0"},"reference-count":41,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T00:00:00Z","timestamp":1719792000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T00:00:00Z","timestamp":1719792000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,3,9]],"date-time":"2024-03-09T00:00:00Z","timestamp":1709942400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Cardiovascular Pathology"],"published-print":{"date-parts":[[2024,7]]},"DOI":"10.1016\/j.carpath.2024.107632","type":"journal-article","created":{"date-parts":[[2024,3,15]],"date-time":"2024-03-15T04:18:48Z","timestamp":1710476328000},"page":"107632","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["Frequent protein kinase A regulatory subunit A1 mutations but no GNAS mutations as potential driver in sporadic cardiac myxomas"],"prefix":"10.1016","volume":"71","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5705-4179","authenticated-orcid":false,"given":"Annette","family":"Zimpfer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liza M.","family":"Abel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony","family":"Alozie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian D.","family":"Etz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bj\u00f6rn","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.carpath.2024.107632_bib0001","doi-asserted-by":"crossref","DOI":"10.5402\/2012\/906109","article-title":"Primary cardiac tumours: a single-center 41-year experience","volume":"2012","author":"Steger","year":"2012","journal-title":"ISRN Cardiol"},{"key":"10.1016\/j.carpath.2024.107632_bib0002","series-title":"WHO Classification of Thoracic Tumours","article-title":"Tumours of the heart","author":"Lokuhetty","year":"2021"},{"issue":"4","key":"10.1016\/j.carpath.2024.107632_bib0003","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1097\/00005792-198507000-00007","article-title":"The complex of myxomas, spotty pigmentation, and endocrine overactivity","volume":"64","author":"Carney","year":"1985","journal-title":"Medicine (Baltimore)"},{"issue":"9","key":"10.1016\/j.carpath.2024.107632_bib0004","doi-asserted-by":"crossref","first-page":"4041","DOI":"10.1210\/jcem.86.9.7903","article-title":"Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation","volume":"86","author":"Stratakis","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.carpath.2024.107632_bib0005","series-title":"Genetic Tumour Syndromes\/Growth factor receptors and Related Signalling Pathways\/PKA Signalling Pathway [Internet; beta version]","article-title":"Carney complex (PRKAR1A, PDE8B, PDE11A)","author":"Maleszewski","year":"2022"},{"issue":"1","key":"10.1016\/j.carpath.2024.107632_bib0006","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1038\/s41436-020-00956-3","article-title":"Predicting the risk of cardiac myxoma in Carney complex","volume":"23","author":"Pitsava","year":"2021","journal-title":"Genet Med"},{"issue":"6","key":"10.1016\/j.carpath.2024.107632_bib0007","doi-asserted-by":"crossref","first-page":"2085","DOI":"10.1210\/jc.2008-2333","article-title":"Mutations in regulatory subunit type 1A of cyclic adenosine 5\u2032-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes","volume":"94","author":"Bertherat","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"10.1016\/j.carpath.2024.107632_bib0008","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.tcm.2009.04.005","article-title":"The Carney complex gene PRKAR1A plays an essential role in cardiac development and myxomagenesis","volume":"19","author":"Yin","year":"2009","journal-title":"Trends Cardiovasc Med"},{"issue":"4","key":"10.1016\/j.carpath.2024.107632_bib0009","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1136\/jmg.40.4.268","article-title":"Chromosome 2 (2p16) abnormalities in Carney complex tumours","volume":"40","author":"Matyakhina","year":"2003","journal-title":"J Med Genet"},{"issue":"5","key":"10.1016\/j.carpath.2024.107632_bib0010","doi-asserted-by":"crossref","first-page":"R31","DOI":"10.1172\/JCI10841","article-title":"Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex","volume":"106","author":"Casey","year":"2000","journal-title":"J Clin Invest"},{"issue":"1","key":"10.1016\/j.carpath.2024.107632_bib0011","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1038\/79238","article-title":"Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex","volume":"26","author":"Kirschner","year":"2000","journal-title":"Nat Genet"},{"issue":"23","key":"10.1016\/j.carpath.2024.107632_bib0012","doi-asserted-by":"crossref","first-page":"2560","DOI":"10.1161\/01.CIR.98.23.2560","article-title":"Identification of a novel genetic locus for familial cardiac myxomas and Carney complex","volume":"98","author":"Casey","year":"1998","journal-title":"Circulation"},{"issue":"1-3","key":"10.1016\/j.carpath.2024.107632_bib0013","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/1040-8428(94)00166-9","article-title":"cAMP-dependent protein kinase: role in normal and malignant growth","volume":"21","author":"Cho-Chung","year":"1995","journal-title":"Crit Rev Oncol Hematol"},{"issue":"2","key":"10.1016\/j.carpath.2024.107632_bib0014","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1677\/erc.0.0110265","article-title":"Protein kinase A and its role in human neoplasia: the Carney complex paradigm","volume":"11","author":"Bossis","year":"2004","journal-title":"Endocr Relat Cancer"},{"issue":"1","key":"10.1016\/j.carpath.2024.107632_bib0015","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1111\/j.1432-1033.1994.tb18617.x","article-title":"Characterization of in-vitro-translated human regulatory and catalytic subunits of cAMP-dependent protein kinases","volume":"220","author":"Foss","year":"1994","journal-title":"Eur J Biochem"},{"issue":"8","key":"10.1016\/j.carpath.2024.107632_bib0016","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1038\/sj.onc.1200906","article-title":"The RIalpha subunit of protein kinase A (PKA) binds to Grb2 and allows PKA interaction with the activated EGF-receptor","volume":"14","author":"Tortora","year":"1997","journal-title":"Oncogene"},{"key":"10.1016\/j.carpath.2024.107632_bib0017","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1111\/j.1749-6632.2002.tb04328.x","article-title":"The essential role of RI alpha in the maintenance of regulated PKA activity","volume":"968","author":"Amieux","year":"2002","journal-title":"Ann N Y Acad Sci"},{"issue":"20","key":"10.1016\/j.carpath.2024.107632_bib0018","doi-asserted-by":"crossref","first-page":"3037","DOI":"10.1093\/hmg\/9.20.3037","article-title":"Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex","volume":"9","author":"Kirschner","year":"2000","journal-title":"Hum Mol Genet"},{"issue":"6","key":"10.1016\/j.carpath.2024.107632_bib0019","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1086\/344579","volume":"71","author":"Groussin","year":"2002","journal-title":"Am J Hum Genet"},{"issue":"13","key":"10.1016\/j.carpath.2024.107632_bib0020","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1093\/hmg\/ddg160","article-title":"Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1\/2","volume":"12","author":"Robinson-White","year":"2003","journal-title":"Hum Mol Genet"},{"issue":"12","key":"10.1016\/j.carpath.2024.107632_bib0021","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1136\/jmg.2004.028043","article-title":"A transgenic mouse bearing an antisense construct of regulatory subunit type 1A of protein kinase A develops endocrine and other tumours: comparison with Carney complex and other PRKAR1A induced lesions","volume":"41","author":"Griffin","year":"2004","journal-title":"J Med Genet"},{"issue":"11","key":"10.1016\/j.carpath.2024.107632_bib0022","doi-asserted-by":"crossref","first-page":"4506","DOI":"10.1158\/0008-5472.CAN-05-0580","article-title":"A mouse model for the Carney complex tumor syndrome develops neoplasia in cyclic AMP-responsive tissues","volume":"65","author":"Kirschner","year":"2005","journal-title":"Cancer Res"},{"issue":"2","key":"10.1016\/j.carpath.2024.107632_bib0023","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.ijcard.2004.05.053","article-title":"PRKAR1A gene mutation in patients with cardiac myxoma","volume":"102","author":"Mabuchi","year":"2005","journal-title":"Int J Cardiol"},{"issue":"1","key":"10.1016\/j.carpath.2024.107632_bib0024","first-page":"59","article-title":"Genetic alterations of Carney complex are not present in sporadic cardiac myxomas","volume":"9","author":"Fogt","year":"2002","journal-title":"Int J Mol Med"},{"issue":"6","key":"10.1016\/j.carpath.2024.107632_bib0025","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1007\/BF03346496","article-title":"Analysis of GNAS1 and PRKAR1A gene mutations in human cardiac myxomas not associated with multiple endocrine disorders","volume":"32","author":"Mantovani","year":"2009","journal-title":"J Endocrinol Invest"},{"issue":"8","key":"10.1016\/j.carpath.2024.107632_bib0026","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1097\/PAS.0000000000000202","article-title":"PRKAR1A in the development of cardiac myxoma: a study of 110 cases including isolated and syndromic tumors","volume":"38","author":"Maleszewski","year":"2014","journal-title":"Am J Surg Pathol"},{"issue":"61","key":"10.1016\/j.carpath.2024.107632_bib0027","doi-asserted-by":"crossref","first-page":"103968","DOI":"10.18632\/oncotarget.21916","article-title":"Recurrent somatic mutations of PRKAR1A in isolated cardiac myxoma","volume":"8","author":"He","year":"2017","journal-title":"Oncotarget"},{"issue":"6","key":"10.1016\/j.carpath.2024.107632_bib0028","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1038\/ng.2956","article-title":"Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors","volume":"46","author":"Goh","year":"2014","journal-title":"Nat Genet"},{"issue":"2","key":"10.1016\/j.carpath.2024.107632_bib0029","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1002\/path.4899","article-title":"Microinsertions in PRKACA cause activation of the protein kinase A pathway in cardiac myxoma","volume":"242","author":"Tseng","year":"2017","journal-title":"J Pathol"},{"issue":"1","key":"10.1016\/j.carpath.2024.107632_bib0030","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.prp.2013.09.003","article-title":"Analysis of GNAS1 mutations in myxoid soft tissue and bone tumors","volume":"210","author":"Walther","year":"2014","journal-title":"Pathol Res Pract"},{"issue":"1","key":"10.1016\/j.carpath.2024.107632_bib0031","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1148\/radiology.205.1.9314989","article-title":"Syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas (Carney complex): breast imaging findings","volume":"205","author":"Courcoutsakis","year":"1997","journal-title":"Radiology"},{"issue":"8","key":"10.1016\/j.carpath.2024.107632_bib0032","doi-asserted-by":"crossref","first-page":"585","DOI":"10.7326\/0003-4819-131-8-199910190-00006","article-title":"Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease","volume":"131","author":"Stratakis","year":"1999","journal-title":"Ann Intern Med"},{"issue":"21","key":"10.1016\/j.carpath.2024.107632_bib0033","doi-asserted-by":"crossref","first-page":"e31","DOI":"10.1158\/0008-5472.CAN-17-0337","article-title":"Variant review with the integrative genomics viewer","volume":"77","author":"Robinson","year":"2017","journal-title":"Cancer Res"},{"issue":"D1","key":"10.1016\/j.carpath.2024.107632_bib0034","doi-asserted-by":"crossref","first-page":"D941","DOI":"10.1093\/nar\/gky1015","article-title":"COSMIC: the catalogue of somatic mutations in cancer","volume":"47","author":"Tate","year":"2019","journal-title":"Nucleic Acids Res"},{"issue":"D1","key":"10.1016\/j.carpath.2024.107632_bib0035","doi-asserted-by":"crossref","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","article-title":"ClinVar: improving access to variant interpretations and supporting evidence","volume":"46","author":"Landrum","year":"2018","journal-title":"Nucleic Acids Res"},{"issue":"4","key":"10.1016\/j.carpath.2024.107632_bib0036","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat Methods"},{"issue":"1","key":"10.1016\/j.carpath.2024.107632_bib0037","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/s13073-021-00835-9","article-title":"CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores","volume":"13","author":"Rentzsch","year":"2021","journal-title":"Genome Med"},{"issue":"D1","key":"10.1016\/j.carpath.2024.107632_bib0038","doi-asserted-by":"crossref","first-page":"D886","DOI":"10.1093\/nar\/gky1016","article-title":"CADD: predicting the deleteriousness of variants throughout the human genome","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res"},{"issue":"269","key":"10.1016\/j.carpath.2024.107632_bib0039","doi-asserted-by":"crossref","DOI":"10.1126\/scisignal.2004088","article-title":"Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal","volume":"6","author":"Gao","year":"2013","journal-title":"Sci Signal"},{"issue":"5","key":"10.1016\/j.carpath.2024.107632_bib0040","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1158\/2159-8290.CD-12-0095","article-title":"The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data","volume":"2","author":"Cerami","year":"2012","journal-title":"Cancer Discov"},{"issue":"4","key":"10.1016\/j.carpath.2024.107632_bib0041","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1002\/humu.21178","article-title":"Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update","volume":"31","author":"Horvath","year":"2010","journal-title":"Hum Mutat"}],"container-title":["Cardiovascular Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1054880724000280?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1054880724000280?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,1,28]],"date-time":"2025-01-28T19:11:20Z","timestamp":1738091480000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1054880724000280"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7]]},"references-count":41,"alternative-id":["S1054880724000280"],"URL":"https:\/\/doi.org\/10.1016\/j.carpath.2024.107632","relation":{},"ISSN":["1054-8807"],"issn-type":[{"type":"print","value":"1054-8807"}],"subject":[],"published":{"date-parts":[[2024,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Frequent protein kinase A regulatory subunit A1 mutations but no GNAS mutations as potential driver in sporadic cardiac myxomas","name":"articletitle","label":"Article Title"},{"value":"Cardiovascular Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.carpath.2024.107632","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Author(s). Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"107632"}}