{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T11:54:10Z","timestamp":1791114850099,"version":"4.1.0"},"reference-count":0,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2000,9]]},"abstract":"<jats:sec>\n                    <jats:title>Abstract.<\/jats:title>\n                    <jats:p>\n                      Nephronophthisis (NPH) and medullary cystic kidney disease (MCKD) constitute a group of renal cystic diseases that share the macroscopic feature of cyst development at the corticomedullary border of the kidneys. The disease variants also have in common a characteristic renal histologic triad of tubular basement membrane disintegration, tubular atrophy with cyst development, and interstitial cell infiltration with fibrosis. NPH and, in most instances, MCKD lead to chronic renal failure with an onset in the first two decades of life for recessive NPH and onset in adult life for autosomal dominant MCKD. There is extensive genetic heterogeneity with at least three different loci for NPH (\n                      <jats:italic toggle=\"yes\">NPHP1, NPHP2<\/jats:italic>\n                      , and\n                      <jats:italic toggle=\"yes\">NPHP3<\/jats:italic>\n                      ) and two different loci for MCKD (\n                      <jats:italic toggle=\"yes\">MCKD1<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">MCKD2<\/jats:italic>\n                      ). Juvenile nephronophthisis, in addition, can be associated with extrarenal organ involvement. As a first step toward understanding the pathogenesis of this disease group, the gene (\n                      <jats:italic toggle=\"yes\">NPH1<\/jats:italic>\n                      ) for juvenile nephronophthisis (NPH1) has been identified by positional cloning. Its gene product, nephrocystin, is a novel protein of unknown function that contains a\n                      <jats:italic toggle=\"yes\">src<\/jats:italic>\n                      -homology 3 domain. It is hypothesized that the pathogenesis of NPH might be related to signaling processes at focal adhesions (the contact points between cells and extracellular matrix) and\/or adherens junctions (the contact points between cells). This hypothesis is based on the fact that most\n                      <jats:italic toggle=\"yes\">src<\/jats:italic>\n                      -homology 3-containing proteins are part of focal adhesion signaling complexes, on animal models that exhibit an NPH-like phenotype, and on the recent finding that nephrocystin binds to the protein p130\n                      <jats:sup>cas<\/jats:sup>\n                      , a major mediator of focal adhesion signaling.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1681\/asn.v1191753","type":"journal-article","created":{"date-parts":[[2021,4,26]],"date-time":"2021-04-26T03:04:21Z","timestamp":1619406261000},"page":"1753-1761","source":"Crossref","is-referenced-by-count":77,"title":["Molecular Genetics of Nephronophthisis and Medullary Cystic Kidney Disease"],"prefix":"10.1681","volume":"11","author":[{"given":"FRIEDHELM","family":"HILDEBRANDT","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"EDGAR","family":"OTTO","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","container-title":["Journal of the American Society of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00001751-200009000-00020","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T19:27:52Z","timestamp":1786130872000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00001751-200009000-00020"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,9]]},"references-count":0,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2000]]}},"URL":"https:\/\/doi.org\/10.1681\/asn.v1191753","relation":{},"ISSN":["1046-6673"],"issn-type":[{"value":"1046-6673","type":"print"}],"subject":[],"published":{"date-parts":[[2000,9]]}}}