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Cystin, the protein product of\n                    <jats:italic>Cys1<\/jats:italic>\n                    , is expressed in the primary apical cilia of renal ductal epithelial cells. In previous studies, we showed that cystin regulates\n                    <jats:italic>Myc<\/jats:italic>\n                    expression via interaction with the tumor suppressor, necdin. Here, we demonstrate rescue of the\n                    <jats:italic>cpk<\/jats:italic>\n                    renal phenotype by kidney-specific expression of a cystin-GFP fusion protein encoded by a transgene integrated into the\n                    <jats:italic>Rosa26<\/jats:italic>\n                    locus. In addition, we show that expression of the cystin-GFP fusion protein in collecting duct cells down-regulates expression of\n                    <jats:italic>Myc<\/jats:italic>\n                    in\n                    <jats:italic>cpk<\/jats:italic>\n                    kidneys. Finally, we report the first human patient with an ARPKD phenotype due to homozygosity for a deleterious splicing variant in\n                    <jats:italic>CYS1<\/jats:italic>\n                    . These findings suggest that mutations in\n                    <jats:italic>Cys1<\/jats:italic>\n                    \/\n                    <jats:italic>CYS1<\/jats:italic>\n                    cause an ARPKD phenotype in mouse and human, respectively, and that the renal cystic phenotype in the mouse is driven by overexpression of the\n                    <jats:italic>Myc<\/jats:italic>\n                    proto-oncogene.\n                  <\/jats:p>","DOI":"10.1038\/s41598-021-97046-4","type":"journal-article","created":{"date-parts":[[2021,9,14]],"date-time":"2021-09-14T06:03:16Z","timestamp":1631599396000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression"],"prefix":"10.1038","volume":"11","author":[{"given":"Chaozhe","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoe","family":"Harafuji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amber K.","family":"O\u2019Connor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A.","family":"Kesterson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob A.","family":"Watts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amar J.","family":"Majmundar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela A.","family":"Braun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monkol","family":"Lek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen M.","family":"Laricchia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanan M.","family":"Fathy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shrikant","family":"Mane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shirlee","family":"Shril","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friedhelm","family":"Hildebrandt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa M.","family":"Guay-Woodford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,9,14]]},"reference":[{"key":"97046_CR1","doi-asserted-by":"publisher","first-page":"80","DOI":"10.3389\/fped.2017.00080","volume":"5","author":"B Alzarka","year":"2017","unstructured":"Alzarka, B., Morizono, H., Bollman, J. 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