{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,8]],"date-time":"2024-07-08T21:21:06Z","timestamp":1720473666504},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[1992,7,1]],"date-time":"1992-07-01T00:00:00Z","timestamp":709948800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1992,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The Lowe oculocerebrorenal syndrome (OCRL; McKusick 309000) is an X\u2010linked disorder characterized by congenital cataracts, muscular hypotonia, mental retardation, and Fanconi syndrome of the renal tubules. A pair of yeast artificial chromosomes (YACs) that span the Xq25\u2010q26 translocation breakpoint in a female with OCRL were used as probes to screen cDNA libraries made from bovine lens and human kidney. The methods used to prepare the YACs as probes and to screen the libraries are presented in detail. Two different transcripts were found that map to the region around the Xq25\u2010q26 breakpoint. These transcripts are now being studied to determine whether one or the other is a candidate gene for OCRL.<\/jats:p>","DOI":"10.1007\/bf01799611","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:25:03Z","timestamp":1119374703000},"page":"526-531","source":"Crossref","is-referenced-by-count":8,"title":["Isolation of cDNA sequences around the chromosomal breakpoint in a female with lowe syndrome by direct screening of cDNA libraries with yeast artificial chromosomes"],"prefix":"10.1002","volume":"15","author":[{"given":"I.","family":"Okabe","sequence":"first","affiliation":[{"name":"Howard Hughes Medical Institute Laboratory University of Pennsylvania School of Medicine  422 Curie Boulevard Philadelphia PA 19104 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Attree","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute Laboratory University of Pennsylvania School of Medicine  422 Curie Boulevard Philadelphia PA 19104 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. C.","family":"Bailey","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute Laboratory University of Pennsylvania School of Medicine  422 Curie Boulevard Philadelphia PA 19104 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. L.","family":"Nelson","sequence":"additional","affiliation":[{"name":"Institute for Molecular Genetics Baylor College of Medicine  One Baylor Plaza Houston TX 77030 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. L.","family":"Nussbaum","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute Laboratory University of Pennsylvania School of Medicine  422 Curie Boulevard Philadelphia PA 19104 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1992,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.9.3425"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(85)90312-5"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.9.4005"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3033825"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90601-A"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90253-B"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.22.8995"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.13.3913"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(83)90418-9"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90504-6"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.82.18.6206"},{"key":"e_1_2_1_13_1","volume-title":"Molecular Cloning: A Laboratory Manual","author":"Maniatis T","year":"1989"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.14.6157"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2475911"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2772657"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90397-H"},{"key":"e_1_2_1_18_1","first-page":"95","article-title":"Human Xq24\u2010q28: approaches to mapping with yeast artificial chromosomes","volume":"46","author":"Wada M","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2134734"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799611","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799611","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T10:38:26Z","timestamp":1694860706000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01799611"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,7]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1992,7]]}},"alternative-id":["10.1007\/BF01799611"],"URL":"https:\/\/doi.org\/10.1007\/bf01799611","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,7]]}}}