{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Besse W"],"funding":["NCATS NIH HHS","NIDDK NIH HHS","PKD Foundation","NHGRI NIH HHS","Mayo Clinic","NIH","NIGMS NIH HHS","NIH HHS"],"pagination":["2091-2102"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6830805"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["30(11)"],"pubmed_abstract":["<h4>Background</h4>Mutations in <i>PKD1</i> or <i>PKD2</i> cause typical autosomal dominant polycystic kidney disease (ADPKD), the most common monogenic kidney disease. Dominantly inherited polycystic kidney and liver diseases on the ADPKD spectrum are also caused by mutations in at least six other genes required for protein biogenesis in the endoplasmic reticulum, the loss of which results in defective production of the <i>PKD1</i> gene product, the membrane protein polycystin-1 (PC1).<h4>Methods</h4>We used whole-exome sequencing in a cohort of 122 patients with genetically unresolved clinical diagnosis of ADPKD or polycystic liver disease to identify a candidate gene, <i>ALG9</i>, and <i>in vitro</i> cell-based assays of PC1 protein maturation to functionally validate it. For further va"],"journal":["Journal of the American Society of Nephrology : JASN"],"pubmed_title":["<i>ALG9</i> Mutation Carriers Develop Kidney and Liver Cysts."],"pmcid":["PMC6830805"],"funding_grant_id":["R01 GM111913","DK106515-01","190F15a","M#UM1HG006504-05","R01 DK051041","207F17a","GM111913","UL1 TR001863","S10 OD018521","P30 DK079310","DK51041","R01 DK100592","K08 DK119642","217G18a","DK090728","K23 DK106515","P30 DK090728","UM1 HG006504","DK100592"],"pubmed_authors":["Staples JC","Wolf SE","Toledo K","Coppola G","Baras A","Widom L","Luo JZ","Abecasis G","Lattari M","Somlo S","Triffo WJ","Habegger L","Pradhan M","Mane S","Padilla MS","Ulloa RH","Penn J","Hahn Y","Besse W","Chang AR","Overton JD","Eom G","Hawes A","Torres VE","Shuldiner A","Blumenfeld A","Schleicher TD","Hartzel DN","Mitnaul LJ","Gulati A","Chai Y","Jones MB","Lopez A","Khalid S","Maxwell EK","Reid JG","Manoochehri K","Cantor M","Forsythe C","Balasubramanian S","Beechert C","Gu Z","Fuller ED","Bai X","Yadav A","Guzzardo PM","Regeneron Genetics Center","Mirshahi T","Barnard L","Economides A","Moore BS"],"additional_accession":[]},"is_claimable":false,"name":"<i>ALG9</i> Mutation Carriers Develop Kidney and Liver Cysts.","description":"<h4>Background</h4>Mutations in <i>PKD1</i> or <i>PKD2</i> cause typical autosomal dominant polycystic kidney disease (ADPKD), the most common monogenic kidney disease. Dominantly inherited polycystic kidney and liver diseases on the ADPKD spectrum are also caused by mutations in at least six other genes required for protein biogenesis in the endoplasmic reticulum, the loss of which results in defective production of the <i>PKD1</i> gene product, the membrane protein polycystin-1 (PC1).<h4>Methods</h4>We used whole-exome sequencing in a cohort of 122 patients with genetically unresolved clinical diagnosis of ADPKD or polycystic liver disease to identify a candidate gene, <i>ALG9</i>, and <i>in vitro</i> cell-based assays of PC1 protein maturation to functionally validate it. For further va","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Nov","modification":"2025-04-26T00:37:57.28Z","creation":"2020-11-03T08:05:02Z"},"accession":"S-EPMC6830805","cross_references":{"pubmed":["31395617"],"doi":["10.1681/asn.2019030298","10.1681/ASN.2019030298"]}}