{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T14:17:33Z","timestamp":1790864253534,"version":"4.1.0"},"reference-count":0,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2001,1]]},"abstract":"<jats:sec>\n                    <jats:title>Abstract.<\/jats:title>\n                    <jats:p>\n                      In a large Venezuelan kindred, a new type of nephronophthisis was recently identified: Adolescent nephronophthisis (NPH3) is a late-onset recessive renal cystic disorder of the nephronophthisis\/medullary cystic group of diseases causing end-stage renal disease at a median age of 19 yr. With the use of a homozygosity mapping strategy, the gene (\n                      <jats:italic toggle=\"yes\">NPHP3<\/jats:italic>\n                      ) was previously localized to chromosome 3q22 within a critical interval of 2.4 cM. In the current study, the\n                      <jats:italic toggle=\"yes\">NPHP3<\/jats:italic>\n                      genetic region was cloned and seven genes, eight expressed sequence-tagged sites, and seven microsatellites were physically localized within the critical disease interval. By human-mouse synteny analysis based on expressed genes, synteny between the human\n                      <jats:italic toggle=\"yes\">NPHP3<\/jats:italic>\n                      locus on chromosome 3q and the\n                      <jats:italic toggle=\"yes\">pcy<\/jats:italic>\n                      locus on mouse chromosome 9 was clearly demonstrated, thus providing the first evidence of synteny between a human and a spontaneous murine renal cystic disease. By fluorescence\n                      <jats:italic toggle=\"yes\">in situ<\/jats:italic>\n                      hybridization the chromosomal assignment of\n                      <jats:italic toggle=\"yes\">NPHP3<\/jats:italic>\n                      to chromosome 3q21-q22 was refined. Renal pathology in NPH3 was found to consist of tubular basement membranes changes, tubular atrophy and dilation, and sclerosing tubulointerstitial nephropathy. This pathology clearly resembled findings observed in the recessive\n                      <jats:italic toggle=\"yes\">pcy<\/jats:italic>\n                      mouse model of late-onset polycystic kidney disease. In analogy to\n                      <jats:italic toggle=\"yes\">pcy<\/jats:italic>\n                      , renal cyst development at the corticomedullary junction was found to be an early sign of the disease. Through cloning of the NPH3 critical region and mapping of expressed genes, synteny between human NPH3 and murine\n                      <jats:italic toggle=\"yes\">pcy<\/jats:italic>\n                      was established, thus generating the hypothesis that both diseases are caused by recessive mutations of homologous genes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1681\/asn.v121107","type":"journal-article","created":{"date-parts":[[2021,5,3]],"date-time":"2021-05-03T22:25:58Z","timestamp":1620080758000},"page":"107-113","source":"Crossref","is-referenced-by-count":38,"title":["Human Adolescent Nephronophthisis"],"prefix":"10.1681","volume":"12","author":[{"given":"HEYMUT","family":"OMRAN","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"KARSTEN","family":"HA[Combining Diaeresis]FFNER","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SUSE","family":"BURTH","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CARMEN","family":"FERNANDEZ","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"BERNARDO","family":"FARGIER","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"AMINTA","family":"VILLAQUIRAN","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HANS-GERD","family":"NOTHWANG","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SUSANNE","family":"SCHNITTGER","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HANS","family":"LEHRACH","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"DAVID","family":"WOO","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MATTHIAS","family":"BRANDIS","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"RALF","family":"SUDBRAK","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"FRIEDHELM","family":"HILDEBRANDT","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\/00001751-200101000-00013","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T19:24:21Z","timestamp":1786130661000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00001751-200101000-00013"}},"subtitle":["Gene Locus Synteny with Polycystic Kidney Disease in Pcy Mice"],"short-title":[],"issued":{"date-parts":[[2001,1]]},"references-count":0,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2001]]}},"URL":"https:\/\/doi.org\/10.1681\/asn.v121107","relation":{},"ISSN":["1046-6673"],"issn-type":[{"value":"1046-6673","type":"print"}],"subject":[],"published":{"date-parts":[[2001,1]]}}}