{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T03:42:07Z","timestamp":1790480527427,"version":"4.1.0"},"reference-count":154,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2020,3,10]],"date-time":"2020-03-10T00:00:00Z","timestamp":1583798400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR\u201012\u2010BSV1\u20100031\u201001"],"award-info":[{"award-number":["ANR\u201012\u2010BSV1\u20100031\u201001"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-17-CE14-0032"],"award-info":[{"award-number":["ANR-17-CE14-0032"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","award":["FRM FDT201904007918"],"award-info":[{"award-number":["FRM FDT201904007918"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Claudins are integral proteins expressed at the tight junctions of epithelial and endothelial cells. In the mammalian kidney, every tubular segment express a specific set of claudins that give to that segment unique properties regarding permeability and selectivity of the paracellular pathway. So far, 3 claudins (10b, 16 and 19) have been causally traced to rare human syndromes: variants of CLDN10b cause HELIX syndrome and variants of CLDN16 or CLDN19 cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis. The review summarizes our current knowledge on the physiology of mammalian tight junctions and paracellular ion transport, as well as on the role of the 3 above-mentioned claudins in health and disease. Claudin 14, although not having been causally linked to any rare renal disease, is also considered, because available evidence suggests that it may interact with claudin 16. Some single-nucleotide polymorphisms of CLDN14 are associated with urinary calcium excretion and\/or kidney stones. For each claudin considered, the pattern of expression, the function and the human syndrome caused by pathogenic variants are described.<\/jats:p>","DOI":"10.3390\/genes11030290","type":"journal-article","created":{"date-parts":[[2020,3,12]],"date-time":"2020-03-12T12:22:51Z","timestamp":1584015771000},"page":"290","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["Claudins in Renal Physiology and Pathology"],"prefix":"10.3390","volume":"11","author":[{"given":"Caroline","family":"Prot-Bertoye","sequence":"first","affiliation":[{"name":"Centre de Recherche des Cordeliers, INSERM, Sorbonne Universit\u00e9, Universit\u00e9 de Paris, F-75006 Paris, France"},{"name":"Service de Physiologie, H\u00f4pital Europ\u00e9en Georges Pompidou, Assistance Publique-H\u00f4pitaux de Paris, F-75015 Paris, France"},{"name":"Centre de R\u00e9f\u00e9rence des Maladies R\u00e9nales H\u00e9r\u00e9ditaires de l\u2019Enfant et de l\u2019Adulte (MARHEA), F-75015 Paris, France"},{"name":"Centre de R\u00e9f\u00e9rence des Maladies Rares du Calcium et du Phosphate, F-75015 Paris, France"},{"name":"CNRS, ERL8228, F-75006 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Houillier","sequence":"additional","affiliation":[{"name":"Centre de Recherche des Cordeliers, INSERM, Sorbonne Universit\u00e9, Universit\u00e9 de Paris, F-75006 Paris, France"},{"name":"Service de Physiologie, H\u00f4pital Europ\u00e9en Georges Pompidou, Assistance Publique-H\u00f4pitaux de Paris, F-75015 Paris, France"},{"name":"Centre de R\u00e9f\u00e9rence des Maladies R\u00e9nales H\u00e9r\u00e9ditaires de l\u2019Enfant et de l\u2019Adulte (MARHEA), F-75015 Paris, France"},{"name":"Centre de R\u00e9f\u00e9rence des Maladies Rares du Calcium et du Phosphate, F-75015 Paris, France"},{"name":"CNRS, ERL8228, F-75006 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,3,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2509","DOI":"10.1172\/JCI83942","article-title":"Paracellular epithelial sodium transport maximizes energy efficiency in the kidney","volume":"126","author":"Pei","year":"2016","journal-title":"J. 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