{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T02:09:04Z","timestamp":1791857344454,"version":"4.3.4"},"reference-count":30,"publisher":"Public Library of Science (PLoS)","issue":"11","license":[{"start":{"date-parts":[[2016,11,29]],"date-time":"2016-11-29T00:00:00Z","timestamp":1480377600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Interdisziplin\u00e4res Zentrum f\u00fcr Klinische Forschung","award":["Z-4\/113"],"award-info":[{"award-number":["Z-4\/113"]}]},{"name":"Open Access Publication Fund of the University of Wuerzburg"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0167033","type":"journal-article","created":{"date-parts":[[2016,11,29]],"date-time":"2016-11-29T18:31:45Z","timestamp":1480444305000},"page":"e0167033","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":26,"title":["PTH1R Mutants Found in Patients with Primary Failure of Tooth Eruption Disrupt G-Protein Signaling"],"prefix":"10.1371","volume":"11","author":[{"given":"Hariharan","family":"Subramanian","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"D\u00f6ring","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sina","family":"Kollert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Rukoyatkina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Sturm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stepan","family":"Gambaryan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelika","family":"Stellzig-Eisenhauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philipp","family":"Meyer-Marcotty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Eigenthaler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erhard","family":"Wischmeyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2016,11,29]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1042\/BST20110615","article-title":"From parathyroid hormone to cytosolic Ca<sup>2+<\/sup> signals","volume":"40","author":"CW Taylor","year":"2012","journal-title":"Biochem Soc Trans"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1172\/JCI2918","article-title":"Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia","volume":"102","author":"AS Jobert","year":"1998","journal-title":"J Clin Invest"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1016\/j.ajhg.2008.11.006","article-title":"PTH1R loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption","volume":"83","author":"E Decker","year":"2008","journal-title":"Am J Hum Genet"},{"key":"ref4","first-page":"241","article-title":"Primary failure of eruption (PFE). Clinical and molecular genetic analysis","volume":"84","author":"A Stellzig-Eisenhauer","year":"2013","journal-title":"Orthod Fr"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1007\/s00056-014-0215-y","article-title":"Differential diagnosis of primary failure of eruption (PFE) with and without evidence of pathogenic mutations in the PTH1R gene","volume":"75","author":"P Pilz","year":"2014","journal-title":"J Orofac Orthop"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1111\/j.1601-6343.2009.01440.x","article-title":"Genetic analysis of familial non-syndromic primary failure of eruption","volume":"12","author":"SA Frazier-Bowers","year":"2009","journal-title":"Orthod Craniofac Res"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1177\/0022034513513588","article-title":"Novel mutations in PTH1R associated with primary failure of eruption and osteoarthritis","volume":"93","author":"SA Frazier-Bowers","year":"2014","journal-title":"J Dent Res"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1007\/s00784-013-1014-3","article-title":"Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruptions","volume":"18","author":"H Roth","year":"2014","journal-title":"Clin Oral Investig"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.1002\/jbmr.385","article-title":"Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese","volume":"26","author":"T Yamaguchi","year":"2011","journal-title":"J Bone Miner Res"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1016\/j.cellsig.2009.02.012","article-title":"PTH and PTHrP signaling in osteoblasts","volume":"21","author":"NS Datta","year":"2009","journal-title":"Cell Signal"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1016\/j.bbrc.2004.11.069","article-title":"Parathyroid hormone and parathyroid hormone-related peptide, and their receptors","volume":"32","author":"RC Gensure","year":"2005","journal-title":"Biochem Biophys Res Commun"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"26976","DOI":"10.1074\/jbc.M110.147785","article-title":"Na\/H exchanger regulatory factors control parathyroid hormone receptor signaling by facilitating differential activation of G(alpha) protein subunits","volume":"285","author":"B Wang","year":"2010","journal-title":"J Biol Chem"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1007\/BFb0033673","article-title":"Signal transduction by cAMP-dependent protein kinases and their emerging roles in the regulation of cell adhesion and gene expression","volume":"135","author":"M Eigenthaler","year":"1999","journal-title":"Rev Physiol Biochem Pharmacol"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"2732","DOI":"10.1073\/pnas.89.7.2732","article-title":"Expression cloning of a common receptor for parathyroid hormone and parathyroid hormone-related peptide from rat osteoblast-like cells: a single receptor stimulates intracellular accumulation of both cAMP and inositol trisphosphates and increases intracellular free calcium","volume":"89","author":"AB Abou-Samra","year":"1992","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"3","key":"ref15","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1113\/jphysiol.2007.145649","article-title":"TRESK two-pore-domain K<sup>+<\/sup> channels constitute a significant component of background potassium currents in murine DRG neurones","volume":"585","author":"T Dobler","year":"2007","journal-title":"J Physiol (Lond)"},{"key":"ref16","article-title":"Activation of TRESK channels by the inflammatory mediator lysophosphtidic acid balances nociceptive signaling","author":"S Kollert","year":"2015","journal-title":"Sci Rep"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1177\/154411130201300403","article-title":"Cellular, molecular, and genetic determinants of tooth eruption","volume":"13","author":"GE Wise","year":"2002","journal-title":"Crit Rev Oral Biol Med"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/nature01658","article-title":"Osteoclast differentiation and activation","volume":"423","author":"WJ Boyle","year":"2003","journal-title":"Nature"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"11846","DOI":"10.1073\/pnas.95.20.11846","article-title":"Parathyroid hormone-related protein is required for tooth eruption","volume":"29","author":"WM Philbrick","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"e0125731","DOI":"10.1371\/journal.pone.0125731","article-title":"Parathyroid hormone induces bone cell motility and loss of mature osteocyte phenotype through L-calcium channel dependent and independent mechanisms","volume":"10","author":"M Prideaux","year":"2015","journal-title":"PLos One"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0378-1119(01)00798-3","article-title":"Parathyroid hormone-dependent signaling pathways regulating genes in bone cells","volume":"282","author":"JT Swarthout","year":"2002","journal-title":"Gene"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"482","DOI":"10.4161\/cam.27351","article-title":"Regulation of VASP phosphorylation: consequences for cell migration","volume":"7","author":"H D\u00f6ppler","year":"2013","journal-title":"Cell Adh Migr"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1038\/nrendo.2011.20","article-title":"G protein-coupled receptors: mutations and endocrine diseases","volume":"7","author":"G Vassart","year":"2011","journal-title":"Nat Rev Endocrinol"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/hmg\/ddi001","article-title":"Recessive mutations in PTH1R cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes","volume":"14","author":"S Duchatelet","year":"2005","journal-title":"Hum Mol Genet"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1126\/science.7701349","article-title":"A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia","volume":"268","author":"E Schipani","year":"1995","journal-title":"Science"},{"key":"ref26","article-title":"Characterization of a PTH1R missense mutation responsible for Jansen type metaphyseal chondrodysplasia","author":"J Shimomura-Kuroki","year":"2016","journal-title":"Odontology"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"2766","DOI":"10.1093\/hmg\/ddn176","article-title":"PTH1R Mutations associated with Ollier disease result in receptor loss of function","volume":"15","author":"A Couvineau","year":"2008","journal-title":"Hum. Mol. Genet"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1210\/jc.2006-0300","article-title":"Novel mutations in the parathyroid (PTH)\/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II","volume":"92","author":"J Hoogendam","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"1180","DOI":"10.1016\/j.bone.2009.12.005","article-title":"Functional analysis of a type 1 parathyroid hormone receptor intracellular tail mutant [KRK(484\u20136)AAA]: effects on second messenger generation and cellular targeting","volume":"46","author":"EK Patterson","year":"2010","journal-title":"Bone"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"a004374","DOI":"10.1101\/cshperspect.a004374","article-title":"Cellular strategies of protein quality control","volume":"3","author":"B Chen","year":"2011","journal-title":"Cold Spring Harb Perspect Biol"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0167033","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,10,24]],"date-time":"2018-10-24T03:38:17Z","timestamp":1540352297000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0167033"}},"subtitle":[],"editor":[{"given":"Peter A.","family":"Friedman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2016,11,29]]},"references-count":30,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2016,11,29]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0167033","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,11,29]]}}}