{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T15:44:11Z","timestamp":1791215051990,"version":"4.1.0"},"reference-count":33,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2013,8,22]],"date-time":"2013-08-22T00:00:00Z","timestamp":1377129600000},"content-version":"vor","delay-in-days":447,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2012,6]]},"DOI":"10.1016\/j.ajhg.2012.04.014","type":"journal-article","created":{"date-parts":[[2012,5,17]],"date-time":"2012-05-17T11:15:31Z","timestamp":1337253331000},"page":"1094-1101","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":159,"title":["Cant\u00fa Syndrome Is Caused by Mutations in ABCC9"],"prefix":"10.1016","volume":"90","author":[{"given":"Bregje\u00a0W.M.","family":"van\u00a0Bon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Gilissen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorothy\u00a0K.","family":"Grange","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul\u00a0C.M.","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fclya","family":"Kayserili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hartmut","family":"Engels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heiko","family":"Reutter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John\u00a0R.","family":"Ostergaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Morava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantinos","family":"Tsiakas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Le\u00a0Merrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Metin","family":"Eser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nienke","family":"Wieskamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"de\u00a0Vries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marloes","family":"Steehouwer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joris\u00a0A.","family":"Veltman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen\u00a0P.","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han\u00a0G.","family":"Brunner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert\u00a0B.A.","family":"de\u00a0Vries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Hoischen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2012.04.014_bib1","doi-asserted-by":"crossref","first-page":"1673","DOI":"10.1002\/ajmg.a.31348","article-title":"Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations","volume":"140","author":"Grange","year":"2006","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2012.04.014_bib2","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1002\/1096-8628(20001023)94:5<421::AID-AJMG15>3.0.CO;2-9","article-title":"Autosomal dominant inheritance in Cant\u00fa syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly)","volume":"94","author":"Lazalde","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2012.04.014_bib3","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1002\/ajmg.a.33885","article-title":"Cant\u00fa syndrome: report of nine new cases and expansion of the clinical phenotype","volume":"155A","author":"Scurr","year":"2011","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2012.04.014_bib4","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1002\/(SICI)1096-8628(19990806)85:4<395::AID-AJMG17>3.0.CO;2-I","article-title":"Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cant\u00fa syndrome","volume":"85","author":"Robertson","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2012.04.014_bib5","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1007\/BF00281261","article-title":"A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity","volume":"60","author":"Cant\u00fa","year":"1982","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2012.04.014_bib6","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1097\/00019605-199804000-00001","article-title":"Three patients with the osteochondrodysplasia and hypertrichosis syndrome\u2014Cantu syndrome","volume":"7","author":"Rosser","year":"1998","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ajhg.2012.04.014_bib7","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1159\/000333800","article-title":"Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome","volume":"223","author":"Kurban","year":"2011","journal-title":"Dermatology (Basel)"},{"key":"10.1016\/j.ajhg.2012.04.014_bib8","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1002\/ajmg.a.31013","article-title":"A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome","volume":"139","author":"Tan","year":"2005","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2012.04.014_bib9","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1002\/(SICI)1096-8628(19970317)69:2<138::AID-AJMG5>3.0.CO;2-L","article-title":"Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome","volume":"69","author":"Garcia-Cruz","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2012.04.014_bib10","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1097\/MCD.0b013e32833d015c","article-title":"Cantu syndrome and lymphoedema","volume":"20","author":"Garc\u00eda-Cruz","year":"2011","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ajhg.2012.04.014_bib11","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1111\/j.1460-9592.2008.02760.x","article-title":"Anesthetic experience in\u00a0a patient with Cant\u00fa syndrome","volume":"18","author":"O'Brien","year":"2008","journal-title":"Paediatr. Anaesth."},{"key":"10.1016\/j.ajhg.2012.04.014_bib12","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1002\/ajmg.10560","article-title":"Further case of Cant\u00fa syndrome: exclusion of cryptic subtelomeric chromosome aberrations","volume":"111","author":"Engels","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2012.04.014_bib13","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/ng.581","article-title":"De novo mutations of SETBP1 cause Schinzel-Giedion syndrome","volume":"42","author":"Hoischen","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2012.04.014_bib14","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1038\/ng.868","article-title":"De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome","volume":"43","author":"Hoischen","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2012.04.014_bib15","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1038\/ng.712","article-title":"A de novo paradigm for mental retardation","volume":"42","author":"Vissers","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2012.04.014_bib16","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/S0923-2508(01)01193-7","article-title":"ABC transporters: physiology, structure and mechanism\u2014an overview","volume":"152","author":"Higgins","year":"2001","journal-title":"Res. Microbiol."},{"key":"10.1016\/j.ajhg.2012.04.014_bib17","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1038\/nature04711","article-title":"KATP channels as molecular sensors of cellular metabolism","volume":"440","author":"Nichols","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2012.04.014_bib18","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1007\/s00424-006-0116-z","article-title":"ABCC8 and ABCC9: ABC transporters that regulate K+ channels","volume":"453","author":"Bryan","year":"2007","journal-title":"Pflugers Arch."},{"key":"10.1016\/j.ajhg.2012.04.014_bib19","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1152\/physrev.00027.2009","article-title":"Muscle KATP channels: recent insights to energy sensing and myoprotection","volume":"90","author":"Flagg","year":"2010","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.ajhg.2012.04.014_bib20","doi-asserted-by":"crossref","first-page":"1497","DOI":"10.1101\/gr.090480.108","article-title":"Automated identification of conserved synteny after whole-genome duplication","volume":"19","author":"Catchen","year":"2009","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2012.04.014_bib21","first-page":"2654","article-title":"The ATPase activities of sulfonylurea receptor 2A and sulfonylurea receptor 2B are influenced by the C-terminal 42 amino acids","volume":"277","author":"de Wet","year":"2010","journal-title":"FEBS J."},{"key":"10.1016\/j.ajhg.2012.04.014_bib22","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1126\/science.1081578","article-title":"Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban","volume":"299","author":"Schmitt","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2012.04.014_bib23","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1038\/nm0503-508","article-title":"Calcium and heart failure: the cycle game","volume":"9","author":"Chien","year":"2003","journal-title":"Nat. Med."},{"key":"10.1016\/j.ajhg.2012.04.014_bib24","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1002\/biof.149","article-title":"Calcium signaling dysfunction in heart disease","volume":"37","author":"Cartwright","year":"2011","journal-title":"Biofactors"},{"key":"10.1016\/j.ajhg.2012.04.014_bib25","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1038\/ng1329","article-title":"ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating","volume":"36","author":"Bienengraeber","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2012.04.014_bib26","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1038\/sj.bjp.0705238","article-title":"Binding and effect of K ATP channel openers in the absence of Mg2+","volume":"139","author":"Russ","year":"2003","journal-title":"Br. J. Pharmacol."},{"key":"10.1016\/j.ajhg.2012.04.014_bib27","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1111\/j.1365-2133.2004.05785.x","article-title":"Minoxidil: mechanisms of action on hair growth","volume":"150","author":"Messenger","year":"2004","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.ajhg.2012.04.014_bib28","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1006\/abbi.1994.1482","article-title":"Minoxidil stimulates elastin expression in aortic smooth muscle cells","volume":"315","author":"Hayashi","year":"1994","journal-title":"Arch. Biochem. Biophys."},{"key":"10.1016\/j.ajhg.2012.04.014_bib29","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1016\/S0022-3565(25)24105-2","article-title":"Mechanism of action of minoxidil sulfate-induced vasodilation: a role for increased K+ permeability","volume":"245","author":"Meisheri","year":"1988","journal-title":"J. Pharmacol. Exp. Ther."},{"key":"10.1016\/j.ajhg.2012.04.014_bib30","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/S0022-3565(25)23623-0","article-title":"Glyburide blocks the relaxation response to BRL 34915 (cromakalim), minoxidil sulfate and diazoxide in vascular smooth muscle","volume":"248","author":"Winquist","year":"1989","journal-title":"J. Pharmacol. Exp. Ther."},{"key":"10.1016\/j.ajhg.2012.04.014_bib31","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1056\/NEJMoa055068","article-title":"Activating mutations in the ABCC8 gene in neonatal diabetes mellitus","volume":"355","author":"Babenko","year":"2006","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ajhg.2012.04.014_bib32","doi-asserted-by":"crossref","first-page":"18988","DOI":"10.1073\/pnas.0707428104","article-title":"Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes","volume":"104","author":"de Wet","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2012.04.014_bib33","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1007\/s11154-010-9149-x","article-title":"Permanent neonatal diabetes due to activating mutations in ABCC8 and\u00a0KCNJ11","volume":"11","author":"Edghill","year":"2010","journal-title":"Rev. Endocr. Metab. Disord."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929712002170?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929712002170?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:10:09Z","timestamp":1757574609000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929712002170"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6]]},"references-count":33,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["S0002929712002170"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2012.04.014","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2012,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Cant\u00fa Syndrome Is Caused by Mutations in ABCC9","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2012.04.014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}