{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T05:44:33Z","timestamp":1792820673972,"version":"4.5.0"},"reference-count":34,"publisher":"National Academy of Sciences","issue":"8","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2004,2,24]]},"abstract":"<jats:p>\n                    Mutations of the polycystic kidney and hepatic disease 1 (\n                    <jats:italic>PKHD1<\/jats:italic>\n                    ) gene have been shown to cause autosomal recessive polycystic kidney disease (ARPKD), but the cellular functions of the gene product (PKHD1) remain uncharacterized. To illuminate its properties, the spatial and temporal expression patterns of PKHD1 were determined in mouse, rat, and human tissues by using polyclonal Abs and mAbs recognizing various specific regions of the gene product. During embryogenesis, PKHD1 is widely expressed in epithelial derivatives, including neural tubules, gut, pulmonary bronchi, and hepatic cells. In the kidneys of the\n                    <jats:italic>pck<\/jats:italic>\n                    rats, the rat model of which is genetically homologous to human ARPKD, the level of PKHD1 was significantly reduced but not completely absent. In cultured renal cells, the\n                    <jats:italic>PKHD1<\/jats:italic>\n                    gene product colocalized with polycystin-2, the gene product of autosomal dominant polycystic disease type 2, at the basal bodies of primary cilia. Immunoreactive PKHD1 localized predominantly at the apical domain of polarized epithelial cells, suggesting it may be involved in the tubulogenesis and\/or maintenance of duct\u2013lumen architecture. Reduced PKHD1 levels in\n                    <jats:italic>pck<\/jats:italic>\n                    rat kidneys and its colocalization with polycystins may underlie the pathogenic basis for cystogenesis in polycystic kidney diseases.\n                  <\/jats:p>","DOI":"10.1073\/pnas.0400073101","type":"journal-article","created":{"date-parts":[[2004,2,24]],"date-time":"2004-02-24T23:03:03Z","timestamp":1077663783000},"page":"2311-2316","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":153,"title":["PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells"],"prefix":"10.1073","volume":"101","author":[{"given":"Ming-Zhi","family":"Zhang","sequence":"first","affiliation":[{"name":"Departments of Medicine, Cell and Developmental Biology, and Pathology, Vanderbilt University, Nashville, TN 37232; Department of Human Pathology, Kanazawa University Graduate School of Medicine, Kanazawa 920-8640, Japan; Clinic of Pediatric Nephrology, University Children's Hospital, 1606 Sofia, Bulgaria; Division of Nephrology and Genomic Medicine, University Health Network, Toronto, ON, Canada M5G 2C4; Department of Bioengineering, University of California, Berkeley, CA 94720; A&amp;G..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiyi","family":"Mai","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Cell and Developmental Biology, and Pathology, Vanderbilt University, Nashville, TN 37232; Department of Human Pathology, Kanazawa University Graduate School of Medicine, Kanazawa 920-8640, Japan; Clinic of Pediatric Nephrology, University Children's Hospital, 1606 Sofia, Bulgaria; Division of Nephrology and Genomic Medicine, University Health Network, Toronto, ON, Canada M5G 2C4; Department of Bioengineering, University of California, Berkeley, CA 94720; A&amp;G..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cunxi","family":"Li","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Cell and Developmental Biology, and Pathology, Vanderbilt University, Nashville, TN 37232; Department of Human Pathology, Kanazawa University Graduate School of Medicine, Kanazawa 920-8640, Japan; Clinic of Pediatric Nephrology, University Children's Hospital, 1606 Sofia, Bulgaria; Division of Nephrology and Genomic Medicine, University Health Network, Toronto, ON, Canada M5G 2C4; Department of Bioengineering, University of California, Berkeley, CA 94720; A&amp;G..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sae-youll","family":"Cho","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Cell and Developmental Biology, and Pathology, Vanderbilt University, Nashville, TN 37232; Department of Human Pathology, Kanazawa University Graduate School of Medicine, Kanazawa 920-8640, Japan; Clinic of Pediatric Nephrology, University Children's Hospital, 1606 Sofia, Bulgaria; Division of Nephrology and Genomic Medicine, University Health Network, Toronto, ON, Canada M5G 2C4; Department of Bioengineering, University of California, Berkeley, CA 94720; A&amp;G..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuanming","family":"Hao","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Cell and Developmental Biology, and Pathology, Vanderbilt University, Nashville, TN 37232; Department of Human Pathology, Kanazawa University Graduate School of Medicine, Kanazawa 920-8640, Japan; Clinic of Pediatric Nephrology, University Children's Hospital, 1606 Sofia, Bulgaria; Division of Nephrology and Genomic Medicine, University Health Network, Toronto, ON, Canada M5G 2C4; Department of Bioengineering, University of California, Berkeley, CA 94720; A&amp;G..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilbert","family":"Moeckel","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Cell and Developmental Biology, and Pathology, Vanderbilt University, Nashville, TN 37232; Department of Human Pathology, Kanazawa University Graduate School of Medicine, Kanazawa 920-8640, Japan; Clinic of Pediatric Nephrology, University Children's Hospital, 1606 Sofia, Bulgaria; Division of Nephrology and Genomic Medicine, University Health Network, Toronto, ON, Canada M5G 2C4; Department of Bioengineering, University of California, Berkeley, CA 94720; A&amp;G..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Runxiang","family":"Zhao","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Cell and Developmental Biology, and Pathology, Vanderbilt University, Nashville, TN 37232; Department of Human Pathology, Kanazawa University Graduate School of Medicine, Kanazawa 920-8640, Japan; Clinic of Pediatric Nephrology, University Children's Hospital, 1606 Sofia, Bulgaria; Division of Nephrology and Genomic Medicine, University Health Network, Toronto, ON, Canada M5G 2C4; Department of Bioengineering, University of California, Berkeley, CA 94720; A&amp;G..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingyu","family":"Kim","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Cell and Developmental Biology, and Pathology, Vanderbilt University, Nashville, TN 37232; Department of Human Pathology, Kanazawa University Graduate School of Medicine, Kanazawa 920-8640, Japan; Clinic of Pediatric Nephrology, University Children's Hospital, 1606 Sofia, Bulgaria; Division of Nephrology and Genomic Medicine, University Health Network, Toronto, ON, Canada M5G 2C4; Department of Bioengineering, University of California, Berkeley, CA 94720; A&amp;G..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jikui","family":"Wang","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Cell and Developmental Biology, and Pathology, Vanderbilt University, Nashville, TN 37232; Department of Human Pathology, Kanazawa University Graduate School of Medicine, Kanazawa 920-8640, Japan; Clinic of Pediatric Nephrology, University Children's Hospital, 1606 Sofia, Bulgaria; Division of Nephrology and Genomic Medicine, University Health Network, Toronto, ON, Canada M5G 2C4; Department of Bioengineering, University of California, Berkeley, CA 94720; 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Clinic of Pediatric Nephrology, University Children's Hospital, 1606 Sofia, Bulgaria; Division of Nephrology and Genomic Medicine, University Health Network, Toronto, ON, Canada M5G 2C4; Department of Bioengineering, University of California, Berkeley, CA 94720; A&amp;G..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasunori","family":"Sato","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Cell and Developmental Biology, and Pathology, Vanderbilt University, Nashville, TN 37232; Department of Human Pathology, Kanazawa University Graduate School of Medicine, Kanazawa 920-8640, Japan; Clinic of Pediatric Nephrology, University Children's Hospital, 1606 Sofia, Bulgaria; Division of Nephrology and Genomic Medicine, University Health Network, Toronto, ON, Canada M5G 2C4; Department of Bioengineering, University of California, Berkeley, CA 94720; A&amp;G..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yizhong","family":"Wu","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Cell and Developmental Biology, and Pathology, Vanderbilt University, Nashville, TN 37232; Department of Human Pathology, Kanazawa University Graduate School of Medicine, Kanazawa 920-8640, Japan; Clinic of Pediatric Nephrology, University Children's Hospital, 1606 Sofia, Bulgaria; Division of Nephrology and Genomic Medicine, University Health Network, Toronto, ON, Canada M5G 2C4; Department of Bioengineering, University of California, Berkeley, CA 94720; A&amp;G..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuni","family":"Nakanuma","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Cell and Developmental Biology, and Pathology, Vanderbilt University, Nashville, TN 37232; Department of Human Pathology, Kanazawa University Graduate School of Medicine, Kanazawa 920-8640, Japan; Clinic of Pediatric Nephrology, University Children's Hospital, 1606 Sofia, Bulgaria; Division of Nephrology and Genomic Medicine, University Health Network, Toronto, ON, Canada M5G 2C4; Department of Bioengineering, University of California, Berkeley, CA 94720; 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Clinic of Pediatric Nephrology, University Children's Hospital, 1606 Sofia, Bulgaria; Division of Nephrology and Genomic Medicine, University Health Network, Toronto, ON, Canada M5G 2C4; Department of Bioengineering, University of California, Berkeley, CA 94720; A&amp;G..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond C.","family":"Harris","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Cell and Developmental Biology, and Pathology, Vanderbilt University, Nashville, TN 37232; Department of Human Pathology, Kanazawa University Graduate School of Medicine, Kanazawa 920-8640, Japan; Clinic of Pediatric Nephrology, University Children's Hospital, 1606 Sofia, Bulgaria; Division of Nephrology and Genomic Medicine, University Health Network, Toronto, ON, Canada M5G 2C4; Department of Bioengineering, University of California, Berkeley, CA 94720; A&amp;G..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Song","family":"Li","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Cell and Developmental Biology, and Pathology, Vanderbilt University, Nashville, TN 37232; 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Department of Human Pathology, Kanazawa University Graduate School of Medicine, Kanazawa 920-8640, Japan; Clinic of Pediatric Nephrology, University Children's Hospital, 1606 Sofia, Bulgaria; Division of Nephrology and Genomic Medicine, University Health Network, Toronto, ON, Canada M5G 2C4; Department of Bioengineering, University of California, Berkeley, CA 94720; A&amp;G..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhizhuang Joe","family":"Zhao","sequence":"additional","affiliation":[{"name":"Departments of Medicine, Cell and Developmental Biology, and Pathology, Vanderbilt University, Nashville, TN 37232; Department of Human Pathology, Kanazawa University Graduate School of Medicine, Kanazawa 920-8640, Japan; Clinic of Pediatric Nephrology, University Children's Hospital, 1606 Sofia, Bulgaria; Division of Nephrology and Genomic Medicine, University Health Network, Toronto, ON, Canada M5G 2C4; Department of Bioengineering, University of California, Berkeley, CA 94720; 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Clinic of Pediatric Nephrology, University Children's Hospital, 1606 Sofia, Bulgaria; Division of Nephrology and Genomic Medicine, University Health Network, Toronto, ON, Canada M5G 2C4; Department of Bioengineering, University of California, Berkeley, CA 94720; A&amp;G..."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2004,2,17]]},"reference":[{"key":"e_1_3_2_1_2","unstructured":"Guay-Woodford L. 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