{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T15:20:35Z","timestamp":1788189635938,"version":"build-2803163510"},"reference-count":37,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T00:00:00Z","timestamp":1527811200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T00:00:00Z","timestamp":1527811200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,12,7]],"date-time":"2018-12-07T00:00:00Z","timestamp":1544140800000},"content-version":"vor","delay-in-days":189,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100006324","name":"National Institute for Basic Biology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006324","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","award":["15K08199"],"award-info":[{"award-number":["15K08199"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2018,6]]},"DOI":"10.1016\/j.ajhg.2018.04.006","type":"journal-article","created":{"date-parts":[[2018,5,31]],"date-time":"2018-05-31T14:58:18Z","timestamp":1527778698000},"page":"1104-1114","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":70,"title":["TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism"],"prefix":"10.1016","volume":"102","author":[{"given":"Yoshiro","family":"Suzuki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotake","family":"Sawada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew A.","family":"Deardorff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather M.","family":"McLaughlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amber","family":"Begtrup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn","family":"Millar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Harrington","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Chong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maian","family":"Roifman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katheryn","family":"Grand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makoto","family":"Tominaga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumio","family":"Takada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shirley","family":"Shuster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megumi","family":"Obara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Mutoh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reiko","family":"Kushima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2018.04.006_bib1","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ando.2016.04.004","article-title":"Bone metabolism during pregnancy","volume":"77","author":"Salles","year":"2016","journal-title":"Ann. Endocrinol. (Paris)"},{"key":"10.1016\/j.ajhg.2018.04.006_bib2","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/j.ajhg.2015.07.014","article-title":"Mutations in SPATA5 are associated with microcephaly, intellectual disability, seizures, and hearing loss","volume":"97","author":"Tanaka","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.04.006_bib3","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1006\/geno.2001.6606","article-title":"Structural conservation of the genes encoding CaT1, CaT2, and related cation channels","volume":"76","author":"Peng","year":"2001","journal-title":"Genomics"},{"key":"10.1016\/j.ajhg.2018.04.006_bib4","doi-asserted-by":"crossref","first-page":"16629","DOI":"10.1074\/jbc.M113.469726","article-title":"The in\u00a0vivo TRPV6 protein starts at a non-AUG triplet, decoded as methionine, upstream of canonical initiation at AUG","volume":"288","author":"Fecher-Trost","year":"2013","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2018.04.006_bib5","doi-asserted-by":"crossref","first-page":"e1686","DOI":"10.1371\/journal.pone.0001686","article-title":"Parallel selection on TRPV6 in human populations","volume":"3","author":"Hughes","year":"2008","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2018.04.006_bib6","doi-asserted-by":"crossref","first-page":"2399","DOI":"10.1038\/ncomms3399","article-title":"Identification of a splice variant of mouse TRPA1 that regulates TRPA1 activity","volume":"4","author":"Zhou","year":"2013","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2018.04.006_bib7","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1111\/j.1469-7793.2000.00239.x","article-title":"Whole-cell and single channel monovalent cation currents through the novel rabbit epithelial Ca2+ channel ECaC","volume":"527","author":"Nilius","year":"2000","journal-title":"J.\u00a0Physiol."},{"key":"10.1016\/j.ajhg.2018.04.006_bib8","doi-asserted-by":"crossref","first-page":"36656","DOI":"10.1074\/jbc.M202822200","article-title":"The recombinant human TRPV6 channel functions as Ca2+ sensor in human embryonic kidney and rat basophilic leukemia cells","volume":"277","author":"B\u00f6dding","year":"2002","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2018.04.006_bib9","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1007\/s00424-002-0923-9","article-title":"The carboxyl terminus of the epithelial Ca(2+) channel ECaC1 is involved in Ca(2+)-dependent inactivation","volume":"445","author":"Nilius","year":"2003","journal-title":"Pflugers Arch."},{"key":"10.1016\/j.ajhg.2018.04.006_bib10","doi-asserted-by":"crossref","first-page":"30852","DOI":"10.1074\/jbc.M202418200","article-title":"Fast and slow inactivation kinetics of the Ca2+ channels ECaC1 and ECaC2 (TRPV5 and TRPV6). Role of the intracellular loop located between transmembrane segments 2 and 3","volume":"277","author":"Nilius","year":"2002","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2018.04.006_bib11","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/s00441-003-0811-4","article-title":"Calbindin-D9k (CaBP9k) localization and levels of expression in trophoblast cells from human term placenta","volume":"315","author":"Belkacemi","year":"2004","journal-title":"Cell Tissue Res."},{"key":"10.1016\/j.ajhg.2018.04.006_bib12","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1111\/j.1753-4887.2012.00491.x","article-title":"Role of calcium during pregnancy: maternal and fetal needs","volume":"70","author":"Hacker","year":"2012","journal-title":"Nutr. Rev."},{"key":"10.1016\/j.ajhg.2018.04.006_bib13","doi-asserted-by":"crossref","first-page":"515","DOI":"10.3109\/09513590.2012.754880","article-title":"Parathyroid and calcium metabolism disorders during pregnancy","volume":"29","author":"Parkes","year":"2013","journal-title":"Gynecol. Endocrinol."},{"key":"10.1016\/j.ajhg.2018.04.006_bib14","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/0002-9378(85)90434-X","article-title":"Calcium metabolism in pregnancy and the perinatal period: a review","volume":"151","author":"Pitkin","year":"1985","journal-title":"Am. J. Obstet. Gynecol."},{"key":"10.1016\/j.ajhg.2018.04.006_bib15","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.berh.2007.11.006","article-title":"Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations","volume":"22","author":"Egbuna","year":"2008","journal-title":"Best Pract. Res. Clin. Rheumatol."},{"key":"10.1016\/j.ajhg.2018.04.006_bib16","doi-asserted-by":"crossref","first-page":"4372","DOI":"10.1210\/jc.2008-2484","article-title":"A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia","volume":"94","author":"Lietman","year":"2009","journal-title":"J.\u00a0Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ajhg.2018.04.006_bib17","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1038\/ng.2492","article-title":"Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3","volume":"45","author":"Nesbit","year":"2013","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2018.04.006_bib18","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1111\/j.1600-0854.2009.00957.x","article-title":"Adaptor protein-2 interaction with arrestin regulates GPCR recycling and apoptosis","volume":"10","author":"Wagener","year":"2009","journal-title":"Traffic"},{"key":"10.1016\/j.ajhg.2018.04.006_bib19","doi-asserted-by":"crossref","first-page":"2476","DOI":"10.1056\/NEJMoa1300253","article-title":"Mutations affecting G-protein subunit \u03b111 in hypercalcemia and hypocalcemia","volume":"368","author":"Nesbit","year":"2013","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ajhg.2018.04.006_bib20","doi-asserted-by":"crossref","first-page":"2196","DOI":"10.1210\/jc.2016-1211","article-title":"Association of mutations in SLC12A1 encoding the NKCC2 cotransporter with neonatal primary hyperparathyroidism","volume":"101","author":"Li","year":"2016","journal-title":"J.\u00a0Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ajhg.2018.04.006_bib21","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1007\/s00431-004-1591-x","article-title":"Mucolipidosis II presenting as severe neonatal hyperparathyroidism","volume":"164","author":"Unger","year":"2005","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ajhg.2018.04.006_bib22","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1136\/adc.56.7.565","article-title":"Transient neonatal hyperparathyroidism secondary to maternal pseudohypoparathyroidism","volume":"56","author":"Glass","year":"1981","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.ajhg.2018.04.006_bib23","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1186\/1477-7827-7-49","article-title":"Uterine and placental expression of TRPV6 gene is regulated via progesterone receptor- or estrogen receptor-mediated pathways during pregnancy in rodents","volume":"7","author":"Lee","year":"2009","journal-title":"Reprod. Biol. Endocrinol."},{"key":"10.1016\/j.ajhg.2018.04.006_bib24","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1359\/jbmr.061110","article-title":"Marked disturbance of calcium homeostasis in mice with targeted disruption of the Trpv6 calcium channel gene","volume":"22","author":"Bianco","year":"2007","journal-title":"J.\u00a0Bone Miner. Res."},{"key":"10.1016\/j.ajhg.2018.04.006_bib25","doi-asserted-by":"crossref","first-page":"G879","DOI":"10.1152\/ajpgi.00089.2012","article-title":"Functional TRPV6 channels are crucial for transepithelial Ca2+ absorption","volume":"303","author":"Woudenberg-Vrenken","year":"2012","journal-title":"Am. J. Physiol. Gastrointest. Liver Physiol."},{"key":"10.1016\/j.ajhg.2018.04.006_bib26","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1006\/bbrc.2000.3716","article-title":"Human calcium transport protein CaT1","volume":"278","author":"Peng","year":"2000","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ajhg.2018.04.006_bib27","doi-asserted-by":"crossref","first-page":"ra27","DOI":"10.1126\/scisignal.2001791","article-title":"Male fertility depends on Ca2+ absorption by TRPV6 in epididymal epithelia","volume":"4","author":"Weissgerber","year":"2011","journal-title":"Sci. Signal."},{"key":"10.1016\/j.ajhg.2018.04.006_bib28","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.ceca.2017.04.006","article-title":"TRPV6: From identification to function","volume":"67","author":"Fecher-Trost","year":"2017","journal-title":"Cell Calcium"},{"key":"10.1016\/j.ajhg.2018.04.006_bib29","doi-asserted-by":"crossref","first-page":"19461","DOI":"10.1074\/jbc.M009895200","article-title":"Expression of CaT-like, a novel calcium-selective channel, correlates with the malignancy of prostate cancer","volume":"276","author":"Wissenbach","year":"2001","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2018.04.006_bib30","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1006\/bbrc.2001.4638","article-title":"CaT1 expression correlates with tumor grade in prostate cancer","volume":"282","author":"Peng","year":"2001","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ajhg.2018.04.006_bib31","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1359\/jbmr.080314","article-title":"Calcium channel TRPV6 is involved in murine maternal-fetal calcium transport","volume":"23","author":"Suzuki","year":"2008","journal-title":"J.\u00a0Bone Miner. Res."},{"key":"10.1016\/j.ajhg.2018.04.006_bib32","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1038\/nature17975","article-title":"Crystal structure of the epithelial calcium channel TRPV6","volume":"534","author":"Saotome","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2018.04.006_bib33","doi-asserted-by":"crossref","first-page":"3600","DOI":"10.1073\/pnas.051511398","article-title":"Competitive regulation of CaT-like-mediated Ca2+ entry by protein kinase C and calmodulin","volume":"98","author":"Niemeyer","year":"2001","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2018.04.006_bib34","doi-asserted-by":"crossref","first-page":"28855","DOI":"10.1074\/jbc.M313637200","article-title":"Regulation of the mouse epithelial Ca2(+) channel TRPV6 by the Ca(2+)-sensor calmodulin","volume":"279","author":"Lambers","year":"2004","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2018.04.006_bib35","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1113\/jphysiol.2001.012917","article-title":"Function and expression of the epithelial Ca(2+) channel family: comparison of mammalian ECaC1 and 2","volume":"537","author":"Hoenderop","year":"2001","journal-title":"J.\u00a0Physiol."},{"key":"10.1016\/j.ajhg.2018.04.006_bib36","doi-asserted-by":"crossref","first-page":"2476","DOI":"10.1021\/bi702109w","article-title":"Structural analyses of the ankyrin repeat domain of TRPV6 and related TRPV ion channels","volume":"47","author":"Phelps","year":"2008","journal-title":"Biochemistry"},{"key":"10.1016\/j.ajhg.2018.04.006_bib37","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00431-015-2664-8","article-title":"Searching for a cure for cystic fibrosis. A 25-year quest in a nutshell","volume":"175","author":"Bosch","year":"2016","journal-title":"Eur. J. Pediatr."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929718301381?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929718301381?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:16:14Z","timestamp":1757574974000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929718301381"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6]]},"references-count":37,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,6]]}},"alternative-id":["S0002929718301381"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2018.04.006","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2018,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism","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.2018.04.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}