{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T17:28:34Z","timestamp":1793035714329,"version":"4.5.0"},"reference-count":17,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","license":[{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["Kidney360"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:sec>\n                    <jats:title>Key Points<\/jats:title>\n                    <jats:p>\n                      <jats:list list-type=\"bullet\">\n                        <jats:list-item>\n                          <jats:p>\n                            Autosomal dominant polycystic kidney disease (ADPKD) manifesting earlier than expected on the basis of family history can identify clinically tolerant\n                            <jats:italic toggle=\"yes\">PKD1<\/jats:italic>\n                            alleles with reduced expression.\n                          <\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>\n                            Hypomorphic\n                            <jats:italic toggle=\"yes\">PKD1<\/jats:italic>\n                            alleles can cause mild kidney disease or liver cysts in the absence of clinically manifest kidney involvement.\n                          <\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>\n                            The presented data highlight pleiotropic ADPKD clinical presentations and varying severity of kidney disease from\n                            <jats:italic toggle=\"yes\">PKD1<\/jats:italic>\n                            allele combinations.\n                          <\/jats:p>\n                        <\/jats:list-item>\n                      <\/jats:list>\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.34067\/kid.0000000000000064","type":"journal-article","created":{"date-parts":[[2023,1,27]],"date-time":"2023-01-27T17:26:15Z","timestamp":1674840375000},"page":"387-392","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":14,"title":["Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease"],"prefix":"10.34067","volume":"4","author":[{"given":"Ashima","family":"Gulati","sequence":"first","affiliation":[{"name":"Division of Nephrology, Children's National Hospital, Washington, District of Columbia"},{"name":"Children's National Research Institute, Washington, District of Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neera K.","family":"Dahl","sequence":"additional","affiliation":[{"name":"Section of Nephrology, Department of Medicine, Yale School of Medicine, New Haven, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erum A.","family":"Hartung","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania"},{"name":"Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie L.","family":"Clark","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania"},{"name":"Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asha","family":"Moudgil","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Children's National Hospital, Washington, District of Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Goodwin","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Pediatrics, Yale School of Medicine, New Haven, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Somlo","sequence":"additional","affiliation":[{"name":"Section of Nephrology, Department of Medicine, Yale School of Medicine, New Haven, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"issue":"9","key":"B1-20250823","doi-asserted-by":"crossref","first-page":"2872","DOI":"10.1681\/ASN.2015050583","article-title":"Predicted mutation strength of nontruncating PKD1 mutations aids 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