{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,31]],"date-time":"2022-03-31T12:24:12Z","timestamp":1648729452508},"reference-count":18,"publisher":"American Physiological Society","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American Journal of Physiology-Renal Physiology"],"published-print":{"date-parts":[[1997,11,1]]},"abstract":"<jats:p> The oculocerebrorenal syndrome of Lowe (OCRL) is a hereditary multisystem disorder characterized by congenital cataracts, mental retardation, renal tubular dysfunction, and progressive renal insufficiency. Tubular abnormalities include proximal tubular dysfunction, a distal acidification defect, and a possible impairment of urinary concentrating ability. The most important renal manifestation of Lowe\u2019s syndrome is a progressive loss of kidney function associated with a glomerular lesion that progresses to end-stage renal disease in either the third or fourth decade. The gene responsible for Lowe\u2019s syndrome, OCRL-1, was recently identified by positional cloning, and mutations were demonstrated in many affected patients. In the present study reverse transcription-polymerase chain reaction (RT-PCR) was used to clone a partial-length cDNA encoding rabbit renal OCRL-1. There is a high degree of similarity between rabbit and human sequences, with nucleotide and amino acid identities of 92% and 97%, respectively. Northern analysis identified a 5.4-kb transcript that is expressed in both rabbit kidney cortex and medulla. Isolated nephron-segment RT-PCR showed that OCRL-1 is expressed in all segments studied: the glomerulus, proximal tubule, medullary and cortical thick ascending limb, distal convoluted tubule, connecting tubule, cortical collecting duct, and outer medullary collecting duct. Defective OCRL-1 expression in these regions may play a pathogenetic role in the renal manifestations of this syndrome. <\/jats:p>","DOI":"10.1152\/ajprenal.1997.273.5.f790","type":"journal-article","created":{"date-parts":[[2017,12,23]],"date-time":"2017-12-23T14:37:38Z","timestamp":1514039858000},"page":"F790-F795","source":"Crossref","is-referenced-by-count":3,"title":["cDNA cloning and localization of OCRL-1  in rabbit kidney"],"prefix":"10.1152","volume":"273","author":[{"given":"Brian C.","family":"Erb","sequence":"first","affiliation":[{"name":"Department of Medicine, Yale University School of Medicine, New Haven 06520-8047; and Department of Veterans Affairs Medical Center, West Haven, Connecticut 06516"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heino","family":"Vel\u00e1zquez","sequence":"additional","affiliation":[{"name":"Department of Medicine, Yale University School of Medicine, New Haven 06520-8047; and Department of Veterans Affairs Medical Center, West Haven, Connecticut 06516"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monique","family":"Gisser","sequence":"additional","affiliation":[{"name":"Department of Medicine, Yale University School of Medicine, New Haven 06520-8047; and Department of Veterans Affairs Medical Center, West Haven, Connecticut 06516"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine A.","family":"Shugrue","sequence":"additional","affiliation":[{"name":"Department of Medicine, Yale University School of Medicine, New Haven 06520-8047; and Department of Veterans Affairs Medical Center, West Haven, Connecticut 06516"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert F.","family":"Reilly","sequence":"additional","affiliation":[{"name":"Department of Medicine, Yale University School of Medicine, New Haven 06520-8047; and Department of Veterans Affairs Medical Center, West Haven, Connecticut 06516"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"24","reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1968.02100010147003"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1038\/358239a0"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90323-I"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199105093241904"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1126\/science.271.5255.1533"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.14.6408"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1210\/endo-127-4-2038"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90314-G"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.4.461"},{"key":"B10","first-page":"164","volume":"83","author":"Lowe C. 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