{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T15:21:17Z","timestamp":1764688877601},"reference-count":19,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"8","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circulation"],"published-print":{"date-parts":[[1996,10,15]]},"abstract":"<jats:p>\n            <jats:italic>Background<\/jats:italic>\n            Heterotaxy results from failure to establish normal left\/right asymmetry during embryonic development. Typical manifestations include complex heart defects and malpositioning of abdominal organs. Missense base substitutions clustered in a 150\u2013base pair region of the gap-junction gene\n            <jats:italic>connexin43 (cx43)<\/jats:italic>\n            have been implicated in the pathogenesis of heterotaxy.\n          <\/jats:p>\n          <jats:p>\n            <jats:italic>Methods and Results<\/jats:italic>\n            <jats:italic>cx43<\/jats:italic>\n            was studied in 38 cases of sporadic and familial heterotaxy. A 400\u2013base pair region containing the previously reported mutation sites was amplified and directly sequenced in 19 patients. Nineteen additional patients were tested for restriction fragments predicted by two of the previously reported missense substitutions. No difference from normal control subjects was detected in any of the patients.\n          <\/jats:p>\n          <jats:p>\n            <jats:italic>Conclusions<\/jats:italic>\n            Randomly selected cases of heterotaxy are unlikely to be the result of mutations in\n            <jats:italic>cx43<\/jats:italic>\n            .\n          <\/jats:p>","DOI":"10.1161\/01.cir.94.8.1909","type":"journal-article","created":{"date-parts":[[2012,6,12]],"date-time":"2012-06-12T00:34:42Z","timestamp":1339461282000},"page":"1909-1912","update-policy":"http:\/\/dx.doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":51,"title":["Failure to Detect\n            <i>connexin43<\/i>\n            Mutations in 38 Cases of Sporadic and Familial Heterotaxy"],"prefix":"10.1161","volume":"94","author":[{"given":"Marinella","family":"Gebbia","sequence":"first","affiliation":[{"name":"the Departments of Pathology (M.G., B.C.), Pediatrics (J.A.T.), and Molecular and Human Genetics (J.A.T.), Baylor College of Medicine, Houston, Tex."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey A.","family":"Towbin","sequence":"additional","affiliation":[{"name":"the Departments of Pathology (M.G., B.C.), Pediatrics (J.A.T.), and Molecular and Human Genetics (J.A.T.), Baylor College of Medicine, Houston, Tex."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brett","family":"Casey","sequence":"additional","affiliation":[{"name":"the Departments of Pathology (M.G., B.C.), Pediatrics (J.A.T.), and Molecular and Human Genetics (J.A.T.), Baylor College of Medicine, Houston, Tex."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0033-8389(22)01203-9"},{"key":"e_1_3_2_2_2","doi-asserted-by":"crossref","unstructured":"Brueckner M McGrath J D'Eustachio P Horwich A. Establishment of left-right asymmetry in vertebrates: genetically distinct steps are involved. In: Bock GR Marsh J eds. Symposium on Biological Asymmetry and Handedness Ciba Foundation Symposium 162. Chichester UK: John Wiley; 1991:202-218.","DOI":"10.1002\/9780470514160.ch12"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1293-403"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560105"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960202)61:4<325::AID-AJMG5>3.0.CO;2-T"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.121.5.1467"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(05)80163-6"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.8480178"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90477-8"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1996.0005"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1043-4682(10)80003-0"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1001940403"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.7892609"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.111.2.589"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199505183322002"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.115.5.1357"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199510053331415"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90507-B"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199510053331415"}],"container-title":["Circulation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/01.CIR.94.8.1909","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,12]],"date-time":"2024-05-12T15:39:42Z","timestamp":1715528382000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/01.CIR.94.8.1909"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,10,15]]},"references-count":19,"journal-issue":{"issue":"8","published-print":{"date-parts":[[1996,10,15]]}},"alternative-id":["10.1161\/01.CIR.94.8.1909"],"URL":"https:\/\/doi.org\/10.1161\/01.cir.94.8.1909","relation":{},"ISSN":["0009-7322","1524-4539"],"issn-type":[{"value":"0009-7322","type":"print"},{"value":"1524-4539","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,10,15]]},"assertion":[{"value":"1995-12-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"1996-04-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"1996-10-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}