{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T06:24:13Z","timestamp":1791095053948,"version":"4.1.0"},"reference-count":27,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100002855","name":"Ministry of Science and Technology of the People&apos;s Republic of China","doi-asserted-by":"publisher","award":["2010CB732601"],"award-info":[{"award-number":["2010CB732601"]}],"id":[{"id":"10.13039\/501100002855","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","award":["2011M500154"],"award-info":[{"award-number":["2011M500154"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jpeds.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[2013,1]]},"DOI":"10.1016\/j.jpeds.2012.06.017","type":"journal-article","created":{"date-parts":[[2012,7,18]],"date-time":"2012-07-18T10:57:40Z","timestamp":1342609060000},"page":"166-170","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"title":["A Family with Liddle Syndrome Caused by a Novel Missense Mutation in\u00a0the PY Motif of the Beta-Subunit of the Epithelial Sodium Channel"],"prefix":"10.1016","volume":"162","author":[{"given":"Linggen","family":"Gao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linping","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaxin","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xianliang","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rutai","family":"Hui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aihua","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpeds.2012.06.017_bib1","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1056\/NEJM199401203300305","article-title":"Brief report. Liddle's syndrome revisited: a disorder of sodium reabsorption in the distal tubule","volume":"330","author":"Botero-Velez","year":"1994","journal-title":"N Engl J\u00a0Med"},{"key":"10.1016\/j.jpeds.2012.06.017_bib2","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1097\/HJH.0b013e3282f85dfe","article-title":"Liddle's syndrome caused by a novel missense mutation (P617L) of the epithelial sodium channel beta subunit","volume":"26","author":"Rossi","year":"2008","journal-title":"J Hypertens"},{"key":"10.1016\/j.jpeds.2012.06.017_bib3","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1038\/367463a0","article-title":"Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits","volume":"367","author":"Canessa","year":"1994","journal-title":"Nature"},{"key":"10.1016\/j.jpeds.2012.06.017_bib4","doi-asserted-by":"crossref","first-page":"12981","DOI":"10.1016\/S0021-9258(18)99972-2","article-title":"Biochemical analysis of the membrane topology of the amiloride-sensitive Na+ channel","volume":"269","author":"Renard","year":"1994","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jpeds.2012.06.017_bib5","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/0092-8674(94)90250-X","article-title":"Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel","volume":"79","author":"Shimkets","year":"1994","journal-title":"Cell"},{"key":"10.1016\/j.jpeds.2012.06.017_bib6","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1097\/00004872-199715100-00007","article-title":"Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome","volume":"15","author":"Jeunemaitre","year":"1997","journal-title":"J Hypertens"},{"key":"10.1016\/j.jpeds.2012.06.017_bib7","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1136\/jmg.35.6.510","article-title":"The diagnosis of Liddle syndrome by identification of a mutation in the beta subunit of the epithelial sodium channel","volume":"35","author":"Jackson","year":"1998","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpeds.2012.06.017_bib8","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1530\/eje.0.1380691","article-title":"Identification of a single cytosine base insertion mutation at Arg-597 of the beta subunit of the human epithelial sodium channel in a family with Liddle's disease","volume":"138","author":"Inoue","year":"1998","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.jpeds.2012.06.017_bib9","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1161\/01.HYP.31.5.1118","article-title":"Mutations and variants of the epithelial sodium channel gene in Liddle's syndrome and primary hypertension","volume":"31","author":"Melander","year":"1998","journal-title":"Hypertension"},{"key":"10.1016\/j.jpeds.2012.06.017_bib10","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1081\/CEH-100104238","article-title":"A family with Liddle's syndrome caused by a mutation in the beta subunit of the epithelial sodium channel","volume":"23","author":"Kyuma","year":"2001","journal-title":"Clin Exp Hypertens"},{"key":"10.1016\/j.jpeds.2012.06.017_bib11","doi-asserted-by":"crossref","first-page":"2379","DOI":"10.1097\/00004872-200212000-00016","article-title":"A frameshift mutation of beta subunit of epithelial sodium channel in a case of isolated Liddle syndrome","volume":"20","author":"Nakano","year":"2002","journal-title":"J Hypertens"},{"key":"10.1016\/j.jpeds.2012.06.017_bib12","doi-asserted-by":"crossref","first-page":"2383","DOI":"10.1097\/00004872-200212000-00017","article-title":"Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit","volume":"20","author":"Hiltunen","year":"2002","journal-title":"J Hypertens"},{"key":"10.1016\/j.jpeds.2012.06.017_bib13","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1038\/ng0995-76","article-title":"Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome","volume":"11","author":"Hansson","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.jpeds.2012.06.017_bib14","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1385\/ENDO:29:3:385","article-title":"Mutation analysis of SCNN1B in a family with Liddle's syndrome","volume":"29","author":"Wang","year":"2006","journal-title":"Endocrine"},{"key":"10.1016\/j.jpeds.2012.06.017_bib15","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1007\/s00467-004-1793-5","article-title":"Liddle syndrome caused by P616R mutation of the epithelial sodium channel beta subunit","volume":"20","author":"Ciechanowicz","year":"2005","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.jpeds.2012.06.017_bib16","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1007\/s00467-004-1751-2","article-title":"A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome","volume":"20","author":"Freundlich","year":"2005","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.jpeds.2012.06.017_bib17","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1210\/jc.2004-1027","article-title":"Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit","volume":"90","author":"Furuhashi","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.jpeds.2012.06.017_bib18","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1097\/00004872-200105000-00008","article-title":"Diagnosis of Liddle syndrome by genetic analysis of beta and gamma subunits of epithelial sodium channel: a report of five affected family members","volume":"19","author":"Gao","year":"2001","journal-title":"J\u00a0Hypertens"},{"key":"10.1016\/j.jpeds.2012.06.017_bib19","first-page":"2210","article-title":"A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel","volume":"83","author":"Inoue","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.jpeds.2012.06.017_bib20","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1097\/00004872-199816080-00008","article-title":"Genetic analysis of the epithelial sodium channel in Liddle's syndrome","volume":"16","author":"Uehara","year":"1998","journal-title":"J\u00a0Hypertens"},{"key":"10.1016\/j.jpeds.2012.06.017_bib21","doi-asserted-by":"crossref","first-page":"1780","DOI":"10.1172\/JCI118606","article-title":"Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene","volume":"97","author":"Tamura","year":"1996","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jpeds.2012.06.017_bib22","doi-asserted-by":"crossref","first-page":"11495","DOI":"10.1073\/pnas.92.25.11495","article-title":"A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity","volume":"92","author":"Hansson","year":"1995","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jpeds.2012.06.017_bib23","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1111\/j.1365-2265.2007.02967.x","article-title":"A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome","volume":"67","author":"Wang","year":"2007","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.jpeds.2012.06.017_bib24","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1053\/ajkd.2001.22072","article-title":"Two sporadic cases of Liddle's syndrome caused by de novo ENaC mutations","volume":"37","author":"Yamashita","year":"2001","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.jpeds.2012.06.017_bib25","doi-asserted-by":"crossref","first-page":"C943","DOI":"10.1152\/ajpcell.00019.2012","article-title":"ENaCs and ASICs as therapeutic targets","volume":"302","author":"Qadri","year":"2012","journal-title":"Am J Physiol Cell Physiol"},{"key":"10.1016\/j.jpeds.2012.06.017_bib26","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1007\/s00431-011-1581-8","article-title":"Liddle syndrome in a Serbian family and literature review of underlying mutations","volume":"171","author":"Bogdanovic","year":"2012","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jpeds.2012.06.017_bib27","doi-asserted-by":"crossref","first-page":"2381","DOI":"10.1002\/j.1460-2075.1996.tb00594.x","article-title":"Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome","volume":"15","author":"Schild","year":"1996","journal-title":"EMBO J"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347612006579?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347612006579?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T08:54:26Z","timestamp":1758358466000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347612006579"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,1]]}},"alternative-id":["S0022347612006579"],"URL":"https:\/\/doi.org\/10.1016\/j.jpeds.2012.06.017","relation":{},"ISSN":["0022-3476"],"issn-type":[{"value":"0022-3476","type":"print"}],"subject":[],"published":{"date-parts":[[2013,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A Family with Liddle Syndrome Caused by a Novel Missense Mutation in\u00a0the PY Motif of the Beta-Subunit of the Epithelial Sodium Channel","name":"articletitle","label":"Article Title"},{"value":"The Journal of Pediatrics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jpeds.2012.06.017","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}