{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T11:53:29Z","timestamp":1791114809324,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,5,16]],"date-time":"2002-05-16T00:00:00Z","timestamp":1021507200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal recessive polycystic kidney disease (ARPKD) is an often devastating form of polycystic kidney disease that presents primarily in infancy. The locus,<jats:italic>PKHD1<\/jats:italic>(polycystic kidney and hepatic disease 1), on chromosome 6p21.1\u2013p12, has been linked to all classical forms of this disorder. In previous studies, we cloned the<jats:italic>PKHD1<\/jats:italic>interval in a set of overlapping YACs, converted this YAC\u2010based framework into a BAC\/PAC contig, and delimited the critical interval to a region flanked by the markers<jats:italic>D6S1714<\/jats:italic>and<jats:italic>D6S102<\/jats:italic>4. We now have refined the genetic interval using new polymorphic markers developed from our BAC\/PAC resources. In addition, we have evaluated a recently identified, EF hand\u2010containing gene that maps to the interval of interest, established its transcript sequence, defined its genomic organization, and excluded this new gene as a<jats:italic>PKHD1<\/jats:italic>candidate. Therefore, this study has narrowed the<jats:italic>PKHD1<\/jats:italic>interval and excluded a potentially relevant gene as a<jats:italic>PKHD1<\/jats:italic>candidate gene. This further refinement of the<jats:italic>PKHD1<\/jats:italic>interval will facilitate efforts to identify the<jats:italic>PKHD1<\/jats:italic>gene by positional cloning. These data also provide additional, highly polymorphic markers for haplotype\u2010based diagnostic testing for ARPKD. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10468","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T11:34:39Z","timestamp":1033904079000},"page":"346-352","source":"Crossref","is-referenced-by-count":12,"title":["Refinement of the autosomal recessive polycystic kidney disease (<i>PKHD1<\/i>) interval and exclusion of an EF hand\u2010containing gene as a<i>PKHD1<\/i>candidate gene"],"prefix":"10.1002","volume":"110","author":[{"given":"Luiz F.","family":"Onuchic","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Mrug","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoying","family":"Hou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Eggermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten","family":"Bergmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Zerres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellis D.","family":"Avner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laszlo","family":"Furu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Somlo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuyuki","family":"Nagasawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory G.","family":"Germino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa M.","family":"Guay\u2010Woodford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,6,21]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.2001.4720"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)37497-0"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.98.3.1182"},{"key":"e_1_2_5_5_1","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1093\/oso\/9780192625786.003.0009","volume-title":"Polycystic kidney disease","author":"Guay\u2010Woodford L","year":"1996"},{"key":"e_1_2_5_6_1","first-page":"1101","article-title":"The severe perinatal form of autosomal recessive polycystic kidney disease (ARPKD) maps to chromosome 6p21.1\u2013p12: implications for genetic counseling","volume":"56","author":"Guay\u2010Woodford L","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/35050128"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200426"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.4671"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5266.1339"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/10.2.459"},{"key":"e_1_2_5_12_1","first-page":"1281","article-title":"Refining the map and defining flanking markers of the gene for autosomal recessive polycystic kidney disease on chromosome 6p21.1\u2013p12","volume":"55","author":"Muecher G","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.5145"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003359901186"},{"key":"e_1_2_5_15_1","first-page":"466","article-title":"Pathogenesis of polycystic kidneys. Type 1 due to hyperplasia of interstitial portions of the collecting tubules","volume":"77","author":"Osathanondh V","year":"1964","journal-title":"Arch Pathol"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5777"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0301-5629(90)90065-K"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1058040"},{"key":"e_1_2_5_19_1","first-page":"177","article-title":"Isolation and nucleotide sequence of a cDNA encoding human calmodulin","volume":"9","author":"Wawrzynczak E","year":"1984","journal-title":"Biochem Int"},{"key":"e_1_2_5_20_1","first-page":"335","article-title":"Protein product of a human intronless calmodulin\u2010like gene shows tissue\u2010specific expression and reduced abundance in transformed cells","volume":"3","author":"Yaswen P","year":"1992","journal-title":"Cell Growth Differ"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0794-429"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980305)76:2<137::AID-AJMG6>3.0.CO;2-Q"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10468","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10468","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,6]],"date-time":"2024-01-06T07:54:44Z","timestamp":1704527684000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10468"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,6,21]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,7,15]]}},"alternative-id":["10.1002\/ajmg.10468"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10468","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,6,21]]}}}