{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T05:34:37Z","timestamp":1789450477798,"version":"build-2803163510"},"reference-count":39,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2003,3,1]],"date-time":"2003-03-01T00:00:00Z","timestamp":1046476800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":3793,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2003,3]]},"DOI":"10.1086\/368295","type":"journal-article","created":{"date-parts":[[2003,4,23]],"date-time":"2003-04-23T16:54:25Z","timestamp":1051116865000},"page":"691-703","source":"Crossref","is-referenced-by-count":172,"title":["Mutations in PRKCSH Cause Isolated Autosomal Dominant Polycystic Liver Disease"],"prefix":"10.1016","volume":"72","author":[{"given":"Airong","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Davila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laszlo","family":"Furu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Qian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Tian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick S.","family":"Kamath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard F.","family":"King","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicente E.","family":"Torres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Somlo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/368295_bib17","doi-asserted-by":"crossref","first-page":"13117","DOI":"10.1074\/jbc.272.20.13117","article-title":"Identification of the CD45-associated 116-kDa and 80-kDa proteins as the alpha- and beta-subunits of alpha-glucosidase II","volume":"272","author":"Arendt","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1086\/368295_bib18","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1093\/glycob\/10.5.487","article-title":"Two distinct domains of the beta-subunit of glucosidase II interact with the catalytic alpha-subunit","volume":"10","author":"Arendt","year":"2000","journal-title":"Glycobiology"},{"key":"10.1086\/368295_bib19","doi-asserted-by":"crossref","first-page":"10757","DOI":"10.1073\/pnas.92.23.10757","article-title":"Emergence of the ZNF91 Kruppel-associated box-containing zinc finger gene family in the last common ancestor of anthropoidea","volume":"92","author":"Bellefroid","year":"1995","journal-title":"Proc Nat Acad Sci USA"},{"key":"10.1086\/368295_bib20","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1095\/biolreprod62.3.642","article-title":"Vacuolar system-associated protein-60: a protein characterized from bovine granulosa and luteal cells that is associated with intracellular vesicles and related to human 80K-H and murine beta-glucosidase II","volume":"62","author":"Brule","year":"2000","journal-title":"Biol Reprod"},{"key":"10.1086\/368295_bib21","doi-asserted-by":"crossref","first-page":"28557","DOI":"10.1074\/jbc.274.40.28557","article-title":"Identification and characterization of polycystin-2, the PKD2 gene product","volume":"274","author":"Cai","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1086\/368295_bib22","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/S0016-5085(52)80213-6","article-title":"Polycystic disease of the liver: a study of 24 cases","volume":"20","author":"Comfort","year":"1952","journal-title":"Gastroenterology"},{"key":"10.1086\/368295_bib23","doi-asserted-by":"crossref","first-page":"25899","DOI":"10.1074\/jbc.274.36.25899","article-title":"Genetic evidence for the heterodimeric structure of glucosidase II: the effect of disrupting the subunit-encoding genes on glycoprotein folding","volume":"274","author":"D'Alessio","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1086\/368295_bib24","doi-asserted-by":"crossref","first-page":"1882","DOI":"10.1126\/science.286.5446.1882","article-title":"Setting the standards: quality control in the secretory pathway","volume":"286","author":"Ellgaard","year":"1999","journal-title":"Science"},{"key":"10.1086\/368295_bib25","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1016\/S0022-3476(98)70096-4","article-title":"Disorders in protein glycosylation and potential therapy: tip of an iceberg?","volume":"133","author":"Freeze","year":"1998","journal-title":"J Pediatr"},{"key":"10.1086\/368295_bib26","doi-asserted-by":"crossref","first-page":"5832","DOI":"10.1074\/jbc.271.10.5832","article-title":"Identification of p90, a prominent tyrosine-phosphorylated protein in fibroblast growth factor-stimulated cells, as 80K-H","volume":"271","author":"Goh","year":"1996","journal-title":"J Biol Chem"},{"key":"10.1086\/368295_bib27","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1042\/bj2700583","article-title":"Purification of two distinct proteins of approximate Mr 80,000 from human epithelial cells and identification as proper substrates for protein kinase C","volume":"270","author":"Hirai","year":"1990","journal-title":"Biochem J"},{"key":"10.1086\/368295_bib28","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1023\/A:1026623005401","article-title":"Isolated polycystic liver disease not linked to polycystic kidney disease 1 and 2","volume":"44","author":"Iglesias","year":"1999","journal-title":"Dig Dis Sci"},{"key":"10.1086\/368295_bib29","doi-asserted-by":"crossref","first-page":"1535","DOI":"10.1086\/301873","article-title":"Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation","volume":"62","author":"Jaeken","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1086\/368295_bib30","doi-asserted-by":"crossref","first-page":"6621","DOI":"10.1074\/jbc.272.10.6621","article-title":"Signal transduction pathway of human fibroblast growth factor receptor 3. Identification of a novel 66-kDa phosphoprotein","volume":"272","author":"Kanai","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1086\/368295_bib31","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1111\/j.1399-0004.1986.tb00565.x","article-title":"Adult polycystic liver and kidney diseases are separate entities","volume":"30","author":"Karhunen","year":"1986","journal-title":"Clin Genet"},{"key":"10.1086\/368295_bib32","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1002\/hep.1840160209","article-title":"Cystic dilatation of peribiliary glands in livers with adult polycystic disease and livers with solitary nonparasitic cysts: an autopsy study","volume":"16","author":"Kida","year":"1992","journal-title":"Hepatology"},{"key":"10.1086\/368295_bib33","doi-asserted-by":"crossref","first-page":"11047","DOI":"10.1073\/pnas.93.20.11047","article-title":"Molecular identity and cellular distribution of advanced glycation endproduct receptors: relationship of p60 to OST-48 and p90 to 80K-H membrane proteins","volume":"93","author":"Li","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/368295_bib34","first-page":"162","article-title":"Polycystic liver: analysis of seventy cases","volume":"59","author":"Melnick","year":"1955","journal-title":"Arch Pathol"},{"key":"10.1086\/368295_bib35","doi-asserted-by":"crossref","first-page":"20763","DOI":"10.1074\/jbc.M107788200","article-title":"Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex","volume":"277","author":"Newby","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1086\/368295_bib36","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.1172\/JCI2350","article-title":"Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy","volume":"101","author":"Niehues","year":"1998","journal-title":"J Clin Invest"},{"key":"10.1086\/368295_bib37","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1086\/340448","article-title":"PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats","volume":"70","author":"Onuchic","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1086\/368295_bib38","doi-asserted-by":"crossref","first-page":"R378","DOI":"10.1016\/S0960-9822(02)00877-1","article-title":"Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease","volume":"12","author":"Pazour","year":"2002","journal-title":"Curr Biol"},{"key":"10.1086\/368295_bib39","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1002\/hep.510230208","article-title":"Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2","volume":"23","author":"Pirson","year":"1996","journal-title":"Hepatology"},{"key":"10.1086\/368295_bib40","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1053\/jhep.2003.50006","article-title":"Clinical profile of autosomal dominant polycystic liver disease","volume":"37","author":"Qian","year":"2003","journal-title":"Hepatology"},{"key":"10.1086\/368295_bib41","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/0016-5085(95)90078-0","article-title":"Liver resection and cyst fenestration in the treatment of severe polycystic liver disease","volume":"108","author":"Que","year":"1995","journal-title":"Gastroenterology"},{"key":"10.1086\/368295_bib42","first-page":"180","article-title":"The liver in autosomal dominant polycystic kidney disease: implications for pathogenesis","volume":"114","author":"Ramos","year":"1990","journal-title":"Arch Pathol Lab Med"},{"key":"10.1086\/368295_bib43","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1016\/S0140-6736(94)92026-5","article-title":"Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1","volume":"343","author":"Ravine","year":"1994","journal-title":"Lancet"},{"key":"10.1086\/368295_bib44","doi-asserted-by":"crossref","first-page":"1598","DOI":"10.1086\/316904","article-title":"Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1","volume":"67","author":"Reynolds","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1086\/368295_bib45","first-page":"1553","article-title":"Fibroblast growth factor receptors display both common and distinct signaling pathways","volume":"10","author":"Shaoul","year":"1995","journal-title":"Oncogene"},{"key":"10.1086\/368295_bib46","first-page":"727a","article-title":"Autosomal dominant polycystic liver disease without polycystic kidney disease is not linked to either the PKD1 or PKD2 gene loci","volume":"6","author":"Somlo","year":"1995","journal-title":"J Amer Soc Nephrol"},{"key":"10.1086\/368295_bib47","first-page":"1013","article-title":"Cell activation by glycated proteins: AGE receptors, receptor recognition factors and functional classification of AGEs","volume":"44","author":"Thornalley","year":"1998","journal-title":"Cell Mol Biol"},{"key":"10.1086\/368295_bib48","series-title":"Polycystic kidney disease","article-title":"Polycystic liver disease","author":"Torres","year":"1996"},{"key":"10.1086\/368295_bib49","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1681\/ASN.V551186","article-title":"Hepatic venous outflow obstruction in autosomal dominant polycystic kidney disease","volume":"5","author":"Torres","year":"1994","journal-title":"J Amer Soc Nephrol"},{"key":"10.1086\/368295_bib50","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1093\/glycob\/10.5.493","article-title":"The alpha- and beta-subunits are required for expression of catalytic activity in the hetero-dimeric glucosidase II complex from human liver","volume":"10","author":"Treml","year":"2000","journal-title":"Glycobiology"},{"key":"10.1086\/368295_bib51","doi-asserted-by":"crossref","first-page":"10717","DOI":"10.1021\/bi010629u","article-title":"Quaternary and domain structure of glycoprotein processing glucosidase II","volume":"40","author":"Trombetta","year":"2001","journal-title":"Biochemistry"},{"key":"10.1086\/368295_bib52","doi-asserted-by":"crossref","first-page":"27509","DOI":"10.1074\/jbc.271.44.27509","article-title":"Endoplasmic reticulum glucosidase II is composed of a catalytic subunit, conserved from yeast to mammals, and a tightly bound noncatalytic HDEL-containing subunit","volume":"271","author":"Trombetta","year":"1996","journal-title":"J Biol Chem"},{"key":"10.1086\/368295_bib53","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/S1097-2765(00)80135-5","article-title":"Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease","volume":"2","author":"Watnick","year":"1998","journal-title":"Mol Cell"},{"key":"10.1086\/368295_bib54","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1006\/mgme.2001.3161","article-title":"Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation","volume":"73","author":"Westphal","year":"2001","journal-title":"Mol Genet Metab"},{"key":"10.1086\/368295_bib55","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/S0092-8674(00)81570-6","article-title":"Somatic inactivation of Pkd2 results in polycystic kidney disease","volume":"93","author":"Wu","year":"1998","journal-title":"Cell"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707605849?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707605849?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,6,6]],"date-time":"2021-06-06T17:01:59Z","timestamp":1622998919000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707605849"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,3]]},"references-count":39,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2003,3]]}},"alternative-id":["S0002929707605849"],"URL":"https:\/\/doi.org\/10.1086\/368295","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2003,3]]}}}