{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T00:27:23Z","timestamp":1792888043168,"version":"4.5.0"},"reference-count":26,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T00:00:00Z","timestamp":1501545600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2017,8]]},"DOI":"10.1016\/j.ymgme.2017.05.017","type":"journal-article","created":{"date-parts":[[2017,5,31]],"date-time":"2017-05-31T12:47:17Z","timestamp":1496234837000},"page":"336-343","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":43,"title":["Characteristics of cardiomyopathy in Alstr\u00f6m syndrome: Prospective single-center data on 38 patients"],"prefix":"10.1016","volume":"121","author":[{"given":"Alessandra","family":"Brofferio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vandana","family":"Sachdev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hwaida","family":"Hannoush","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan D.","family":"Marshall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen K.","family":"Naggert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislav","family":"Sidenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Noreuil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9183-5983","authenticated-orcid":false,"given":"Arlene","family":"Sirajuddin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joy","family":"Bryant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan C.","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew E.","family":"Arai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meral","family":"Gunay-Aygun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2017.05.017_bb0005","series-title":"GeneReviews(R)","article-title":"Alstrom syndrome","author":"Marshall","year":"1993"},{"issue":"1","key":"10.1016\/j.ymgme.2017.05.017_bb0010","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1038\/ng867","article-title":"Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome","volume":"31","author":"Collin","year":"2002","journal-title":"Nat. Genet."},{"issue":"1","key":"10.1016\/j.ymgme.2017.05.017_bb0015","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/ng874","article-title":"Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome","volume":"31","author":"Hearn","year":"2002","journal-title":"Nat. Genet."},{"issue":"10","key":"10.1016\/j.ymgme.2017.05.017_bb0020","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0109540","article-title":"GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT\/GT, a mouse model for obesity and insulin resistance","volume":"9","author":"Favaretto","year":"2014","journal-title":"PLoS One"},{"issue":"21","key":"10.1016\/j.ymgme.2017.05.017_bb0025","doi-asserted-by":"crossref","first-page":"3617","DOI":"10.1091\/mbc.E10-03-0246","article-title":"Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731","volume":"21","author":"Knorz","year":"2010","journal-title":"Mol. Biol. Cell"},{"issue":"5","key":"10.1016\/j.ymgme.2017.05.017_bb0030","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0037925","article-title":"The Alstrom syndrome protein, ALMS1, interacts with alpha-actinin and components of the endosome recycling pathway","volume":"7","author":"Collin","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2017.05.017_bb0035","doi-asserted-by":"crossref","first-page":"3416","DOI":"10.1038\/ncomms4416","article-title":"Mutations in Alstrom protein impair terminal differentiation of cardiomyocytes","volume":"5","author":"Shenje","year":"2014","journal-title":"Nat. Commun."},{"issue":"4","key":"10.1016\/j.ymgme.2017.05.017_bb0040","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0019081","article-title":"ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis","volume":"6","author":"Zulato","year":"2011","journal-title":"PLoS One"},{"issue":"Pt 11","key":"10.1016\/j.ymgme.2017.05.017_bb0045","doi-asserted-by":"crossref","first-page":"2407","DOI":"10.1242\/jcs.130344","article-title":"Basal body proteins regulate notch signaling through endosomal trafficking","volume":"127","author":"Leitch","year":"2014","journal-title":"J. Cell Sci."},{"issue":"6","key":"10.1016\/j.ymgme.2017.05.017_bb0050","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1001\/archinte.165.6.675","article-title":"New Alstrom syndrome phenotypes based on the evaluation of 182 cases","volume":"165","author":"Marshall","year":"2005","journal-title":"Arch. Intern. Med."},{"key":"10.1016\/j.ymgme.2017.05.017_bb0055","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/1750-1172-4-14","article-title":"Cardiac magnetic resonance imaging in Alstrom syndrome","volume":"4","author":"Loudon","year":"2009","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2017.05.017_bb0060","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1186\/s13023-015-0292-z","article-title":"Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alstrom syndrome: an observational study","volume":"10","author":"Edwards","year":"2015","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"10.1016\/j.ymgme.2017.05.017_bb0065","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1111\/j.1399-5448.2011.00789.x","article-title":"The progression from obesity to type 2 diabetes in Alstrom syndrome","volume":"13","author":"Bettini","year":"2012","journal-title":"Pediatr. Diabetes"},{"issue":"4","key":"10.1016\/j.ymgme.2017.05.017_bb0070","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1097\/MOL.0b013e32832dd51a","article-title":"New insights and therapies for the metabolic consequences of Alstrom syndrome","volume":"20","author":"Paisey","year":"2009","journal-title":"Curr. Opin. Lipidol."},{"issue":"12","key":"10.1016\/j.ymgme.2017.05.017_bb0075","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1016\/j.echo.2007.04.033","article-title":"Cardiac manifestations of Alstrom syndrome: echocardiographic findings","volume":"20","author":"Makaryus","year":"2007","journal-title":"J. Am. Soc. Echocardiogr."},{"issue":"7","key":"10.1016\/j.ymgme.2017.05.017_bb0080","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1002\/humu.22796","article-title":"Alstrom syndrome: mutation spectrum of ALMS1","volume":"36","author":"Marshall","year":"2015","journal-title":"Hum. Mutat."},{"issue":"1","key":"10.1016\/j.ymgme.2017.05.017_bb0085","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.echo.2014.10.003","article-title":"Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging","volume":"28","author":"Lang","year":"2015","journal-title":"J. Am. Soc. Echocardiogr."},{"issue":"6","key":"10.1016\/j.ymgme.2017.05.017_bb0090","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1111\/j.1540-8175.2011.01410.x","article-title":"Left ventricular function in hypertension: new insight by speckle tracking echocardiography","volume":"28","author":"Imbalzano","year":"2011","journal-title":"Echocardiography"},{"key":"10.1016\/j.ymgme.2017.05.017_bb0095","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/s12933-016-0333-5","article-title":"Incremental prognostic value of global longitudinal strain in patients with type 2 diabetes mellitus","volume":"15","author":"Liu","year":"2016","journal-title":"Cardiovasc. Diabetol."},{"issue":"8","key":"10.1016\/j.ymgme.2017.05.017_bb0100","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1093\/ejechocard\/jep097","article-title":"Subclinical left ventricular dysfunction in asymptomatic diabetic patients assessed by two-dimensional speckle tracking echocardiography: correlation with diabetic duration","volume":"10","author":"Nakai","year":"2009","journal-title":"Eur. J. Echocardiogr."},{"issue":"12","key":"10.1016\/j.ymgme.2017.05.017_bb0105","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000000071","article-title":"Early myocardial deformation changes in hypercholesterolemic and obese children and adolescents: a 2D and 3D speckle tracking echocardiography study","volume":"93","author":"Vitarelli","year":"2014","journal-title":"Medicine (Baltimore)"},{"issue":"2","key":"10.1016\/j.ymgme.2017.05.017_bb0110","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1002\/(SICI)1096-8628(19971212)73:2<150::AID-AJMG9>3.0.CO;2-Y","article-title":"Genealogy, natural history, and phenotype of Alstrom syndrome in a large Acadian kindred and three additional families","volume":"73","author":"Marshall","year":"1997","journal-title":"Am. J. Med. Genet."},{"issue":"6","key":"10.1016\/j.ymgme.2017.05.017_bb0115","doi-asserted-by":"crossref","DOI":"10.1161\/JAHA.116.003264","article-title":"Which QT correction formulae to use for QT monitoring?","volume":"5","author":"Vandenberk","year":"2016","journal-title":"J. Am. Heart Assoc."},{"issue":"1","key":"10.1016\/j.ymgme.2017.05.017_bb0120","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.echo.2005.07.008","article-title":"Doppler tissue, strain, and strain rate imaging in pediatric patients with Alstrom syndrome: are there regional functional abnormalities?","volume":"19","author":"Toulany","year":"2006","journal-title":"J. Am. Soc. Echocardiogr."},{"issue":"4","key":"10.1016\/j.ymgme.2017.05.017_bb0125","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.1016\/j.ijcard.2012.03.160","article-title":"Alstrom syndrome: cardiac magnetic resonance findings","volume":"167","author":"Corbetti","year":"2013","journal-title":"Int. J. Cardiol."},{"issue":"9","key":"10.1016\/j.ymgme.2017.05.017_bb0130","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1016\/j.ejmg.2014.06.004","article-title":"Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings","volume":"57","author":"Louw","year":"2014","journal-title":"Eur. J. Med. Genet."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217300951?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217300951?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,9,25]],"date-time":"2019-09-25T05:13:55Z","timestamp":1569388435000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719217300951"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8]]},"references-count":26,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,8]]}},"alternative-id":["S1096719217300951"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.05.017","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2017,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Characteristics of cardiomyopathy in Alstr\u00f6m syndrome: Prospective single-center data on 38 patients","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.05.017","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}