{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T07:26:11Z","timestamp":1790753171230,"version":"4.1.0"},"reference-count":91,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,7,28]],"date-time":"2022-07-28T00:00:00Z","timestamp":1658966400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["nyaspubs.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of the New York Academy of Sciences"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In epithelia, claudin proteins are important components of the tight junctions as they determine the permeability and specificity to ions of the paracellular pathway. Mutations in <jats:italic><jats:sc>CLDN10<\/jats:sc><\/jats:italic> cause the rare autosomal recessive HELIX syndrome (Hypohidrosis, Electrolyte imbalance, Lacrimal gland dysfunction, Ichthyosis, and Xerostomia), in which patients display severe enamel wear. Here, we assess whether this enamel wear is caused by an innate fragility directly related to claudin\u201010 deficiency in addition to xerostomia. A third molar collected from a female HELIX patient was analyzed by a combination of microanatomical and physicochemical approaches (i.e., electron microscopy, elemental mapping, Raman microspectroscopy, and synchrotron\u2010based X\u2010ray fluorescence). The enamel morphology, formation time, organization, and microstructure appeared to be within the natural variability. However, we identified accentuated strontium variations within the HELIX enamel, with alternating enrichments and depletions following the direction of the periodical striae of Retzius. These markings were also present in dentin. These data suggest that the enamel wear associated with HELIX may not be related to a disruption of enamel microstructure but rather to xerostomia. However, the occurrence of events of strontium variations within dental tissues might indicate repeated episodes of worsening of the renal dysfunction that may require further investigations.<\/jats:p>","DOI":"10.1111\/nyas.14865","type":"journal-article","created":{"date-parts":[[2022,7,29]],"date-time":"2022-07-29T03:59:20Z","timestamp":1659067160000},"page":"197-211","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Impact of claudin\u201010 deficiency on amelogenesis: Lesson from a HELIX tooth"],"prefix":"10.1111","volume":"1516","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5117-6944","authenticated-orcid":false,"given":"Nicolas","family":"Obtel","sequence":"first","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, URP2496 Pathologies, Imagerie et Bioth\u00e9rapies Orofaciales et Plateforme Imagerie du Vivant (PIV), FHU\u2010DDS\u2010net, IHMOA, Dental School  Montrouge France"},{"name":"AP\u2010HP Services de m\u00e9decine bucco\u2010dentaire, H\u00f4pitaux Universitaires Bretonneau (CRMR phosphore et calcium, fili\u00e8re OSCAR et ERN Bond) and Charles Foix, FHU DDS\u2010net  Ile de France France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6948-4726","authenticated-orcid":false,"given":"Adeline","family":"Le Cabec","sequence":"additional","affiliation":[{"name":"Univ. Bordeaux, CNRS, MCC, PACEA, UMR 5199  Pessac France"},{"name":"Department of Human Evolution Max Planck Institute for Evolutionary Anthropology  Leipzig Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Th\u00e8 Nghia","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, URP2496 Pathologies, Imagerie et Bioth\u00e9rapies Orofaciales et Plateforme Imagerie du Vivant (PIV), FHU\u2010DDS\u2010net, IHMOA, Dental School  Montrouge France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8122-760X","authenticated-orcid":false,"given":"Eloise","family":"Giabicani","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, URP2496 Pathologies, Imagerie et Bioth\u00e9rapies Orofaciales et Plateforme Imagerie du Vivant (PIV), FHU\u2010DDS\u2010net, IHMOA, Dental School  Montrouge France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3879-7882","authenticated-orcid":false,"given":"Stijn J. M.","family":"Van Malderen","sequence":"additional","affiliation":[{"name":"Deutsches Elektronen\u2010Synchrotron DESY  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8696-0499","authenticated-orcid":false,"given":"Jan","family":"Garrevoet","sequence":"additional","affiliation":[{"name":"Deutsches Elektronen\u2010Synchrotron DESY  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3896-314X","authenticated-orcid":false,"given":"Aline","family":"Percot","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, CNRS, De la Mol\u00e9cule aux Nano\u2010Objets: R\u00e9activit\u00e9, Interactions et Spectroscopies (MONARIS)  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Paris","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, CNRS, De la Mol\u00e9cule aux Nano\u2010Objets: R\u00e9activit\u00e9, Interactions et Spectroscopies (MONARIS)  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3783-7296","authenticated-orcid":false,"given":"Christopher","family":"Dean","sequence":"additional","affiliation":[{"name":"Department of Earth Sciences, Centre for Human Evolution Research Natural History Museum  London UK"},{"name":"Department of Cell and Developmental Biology University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6801-7106","authenticated-orcid":false,"given":"Smail","family":"Hadj\u2010Rabia","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, INSERM1163 Institut Imagine; APHP, H\u00f4pital Necker\u2010Enfants Malades, Department of Dermatology, Reference Center for Rare Skin Diseases  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4953-6917","authenticated-orcid":false,"given":"Pascal","family":"Houillier","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, Sorbonne Universit\u00e9, Centre de Recherche des Cordeliers, INSERM, CNRS\u2010ERL8228  Paris France"},{"name":"APHP, Service de Physiologie, Centre de R\u00e9f\u00e9rence des Maladies R\u00e9nales H\u00e9r\u00e9ditaires de l'Enfant et de l'Adulte (MARHEA), H\u00f4pital Europ\u00e9en Georges Pompidou  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tilman","family":"Breiderhoff","sequence":"additional","affiliation":[{"name":"Charit\u00e9 Universitaetsmedizin Berlin, Division of Gastroenterology, Nephrology and Metabolic Diseases, Department of Pediatrics  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0874-4843","authenticated-orcid":false,"given":"Claire","family":"Bardet","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, URP2496 Pathologies, Imagerie et Bioth\u00e9rapies Orofaciales et Plateforme Imagerie du Vivant (PIV), FHU\u2010DDS\u2010net, IHMOA, Dental School  Montrouge France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3374-5722","authenticated-orcid":false,"given":"Thibaud","family":"Coradin","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, CNRS, Laboratoire de Chimie de la Mati\u00e8re Condens\u00e9e de Paris  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8537-3839","authenticated-orcid":false,"given":"Fernando","family":"Ramirez Rozzi","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, URP2496 Pathologies, Imagerie et Bioth\u00e9rapies Orofaciales et Plateforme Imagerie du Vivant (PIV), FHU\u2010DDS\u2010net, IHMOA, Dental School  Montrouge France"},{"name":"Eco\u2010anthropologie (EA), Mus\u00e9um national d'Histoire naturelle, CNRS Universit\u00e9 de Paris  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3463-3936","authenticated-orcid":false,"given":"Catherine","family":"Chaussain","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, URP2496 Pathologies, Imagerie et Bioth\u00e9rapies Orofaciales et Plateforme Imagerie du Vivant (PIV), FHU\u2010DDS\u2010net, IHMOA, Dental School  Montrouge France"},{"name":"AP\u2010HP Services de m\u00e9decine bucco\u2010dentaire, H\u00f4pitaux Universitaires Bretonneau (CRMR phosphore et calcium, fili\u00e8re OSCAR et ERN Bond) and Charles Foix, FHU DDS\u2010net  Ile de France France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,7,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.00410"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7580.2008.01014.x"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.ctdb.2015.07.006"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41574-021-00488-z"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000102683"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00030.2016"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/00220345211018405"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/00220345211012925"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/10454411980090020101"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034516681768"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034512470954"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.22911"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034512463397"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00019.2012"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00795-009-0482-7"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2726"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2017.00326"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-103956"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.595593"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.physiol.68.040104.131404"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00579.2020"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-016-1921-7"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1203834109"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.040113"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1679\/aohc.68.349"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2017.00435"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.14295\/bds.2013.v16i4.904"},{"key":"e_1_2_9_29_1","article-title":"Interventions for the restorative care of Amelogenesis imperfecta in children and adolescents","volume":"2013","author":"Dashash M.","year":"2013","journal-title":"Cochrane Database of Systematic Reviews"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1109-2"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61316"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-17"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20215396"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006897"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.71"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-021-05019-6"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2021.02.023"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2016080881"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1177\/0748730412442830"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1006\/jhev.1998.0257"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1006\/jhev.1998.0208"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1006\/jhev.1998.0230"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhevol.2005.09.003"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1364\/JOT.85.000130"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1107\/S1600577516015289"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nima.2009.10.094"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1002\/xrs.2769"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sab.2006.12.002"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0121611"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1002\/xrs.2407"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2089"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2019"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-76032-2"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2006.04.012"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhevol.2008.02.004"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7580.2008.00938.x"},{"key":"e_1_2_9_57_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7580.2006.00597.x"},{"key":"e_1_2_9_58_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-9969(03)00195-X"},{"key":"e_1_2_9_59_1","doi-asserted-by":"publisher","DOI":"10.1002\/jrs.5648"},{"key":"e_1_2_9_60_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.aanat.2017.12.012"},{"key":"e_1_2_9_61_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2019.05.024"},{"key":"e_1_2_9_62_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nimb.2010.01.004"},{"key":"e_1_2_9_63_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0074-7696(08)62360-8"},{"key":"e_1_2_9_64_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02783305"},{"key":"e_1_2_9_65_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0711513105"},{"key":"e_1_2_9_66_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gca.2019.03.005"},{"key":"e_1_2_9_67_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2020.104879"},{"key":"e_1_2_9_68_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nimb.2010.06.008"},{"key":"e_1_2_9_69_1","doi-asserted-by":"publisher","DOI":"10.1111\/prd.12131"},{"key":"e_1_2_9_70_1","doi-asserted-by":"publisher","DOI":"10.1159\/000093355"},{"key":"e_1_2_9_71_1","doi-asserted-by":"publisher","DOI":"10.1590\/S1678-77572012000500001"},{"key":"e_1_2_9_72_1","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.2010.0052"},{"key":"e_1_2_9_73_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8644(199601)99:1<119::AID-AJPA7>3.0.CO;2-W"},{"key":"e_1_2_9_74_1","doi-asserted-by":"publisher","DOI":"10.1002\/jrs.5419"},{"key":"e_1_2_9_75_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0714.1992.tb00099.x"},{"key":"e_1_2_9_76_1","doi-asserted-by":"publisher","DOI":"10.1080\/03008207.2017.1417989"},{"key":"e_1_2_9_77_1","doi-asserted-by":"publisher","DOI":"10.1154\/1.2737468"},{"key":"e_1_2_9_78_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajplegacy.1956.188.1.131"},{"key":"e_1_2_9_79_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.actbio.2008.04.018"},{"key":"e_1_2_9_80_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.actbio.2008.11.032"},{"key":"e_1_2_9_81_1","doi-asserted-by":"publisher","DOI":"10.1016\/S8756-3282(01)00419-7"},{"key":"e_1_2_9_82_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034520903036"},{"key":"e_1_2_9_83_1","doi-asserted-by":"publisher","DOI":"10.1111\/eci.12987"},{"key":"e_1_2_9_84_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/44.3.586"},{"key":"e_1_2_9_85_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2017.00924"},{"key":"e_1_2_9_86_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-017-0311-2"},{"key":"e_1_2_9_87_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.01.009"},{"key":"e_1_2_9_88_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-9969(00)00113-8"},{"key":"e_1_2_9_89_1","doi-asserted-by":"publisher","DOI":"10.1177\/00220345920710111201"},{"key":"e_1_2_9_90_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-016-0197-4"},{"key":"e_1_2_9_91_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13730-020-00464-y"},{"key":"e_1_2_9_92_1","doi-asserted-by":"publisher","DOI":"10.4103\/ijn.IJN_203_16"}],"container-title":["Annals of the New York Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nyas.14865","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/nyas.14865","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/nyaspubs.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nyas.14865","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,21]],"date-time":"2024-01-21T14:04:16Z","timestamp":1705845856000},"score":1,"resource":{"primary":{"URL":"https:\/\/nyaspubs.onlinelibrary.wiley.com\/doi\/10.1111\/nyas.14865"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,28]]},"references-count":91,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,10]]}},"alternative-id":["10.1111\/nyas.14865"],"URL":"https:\/\/doi.org\/10.1111\/nyas.14865","archive":["Portico"],"relation":{},"ISSN":["0077-8923","1749-6632"],"issn-type":[{"value":"0077-8923","type":"print"},{"value":"1749-6632","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,28]]},"assertion":[{"value":"2022-07-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}