{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T14:23:55Z","timestamp":1793111035569,"version":"4.5.0"},"reference-count":77,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2018,5,1]],"date-time":"2018-05-01T00:00:00Z","timestamp":1525132800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,5,1]],"date-time":"2018-05-01T00:00:00Z","timestamp":1525132800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,11,3]],"date-time":"2018-11-03T00:00:00Z","timestamp":1541203200000},"content-version":"vor","delay-in-days":186,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100014607","name":"Royal Children's Hospital Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014607","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["GNT1098654"],"award-info":[{"award-number":["GNT1098654"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000975","name":"Kidney Health Australia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000975","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004752","name":"State Government of Victoria","doi-asserted-by":"publisher","award":["GNT1114409"],"award-info":[{"award-number":["GNT1114409"]}],"id":[{"id":"10.13039\/501100004752","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014555","name":"Murdoch Children's Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014555","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2018,5]]},"DOI":"10.1016\/j.ajhg.2018.03.014","type":"journal-article","created":{"date-parts":[[2018,4,26]],"date-time":"2018-04-26T11:50:59Z","timestamp":1524743459000},"page":"816-831","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":207,"title":["Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms"],"prefix":"10.1016","volume":"102","author":[{"given":"Thomas A.","family":"Forbes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara E.","family":"Howden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kynan","family":"Lawlor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Belinda","family":"Phipson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jovana","family":"Maksimovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorna","family":"Hale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Quinlan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gladys","family":"Ho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Holman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce","family":"Bennetts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Crawford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Trnka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alicia","family":"Oshlack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chirag","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Mallett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cas","family":"Simons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa H.","family":"Little","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2018.03.014_bib1","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1186\/1750-1172-9-98","article-title":"The prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia","volume":"9","author":"Mallett","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ajhg.2018.03.014_bib2","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/s00467-012-2306-6","article-title":"Prevalence of genetic renal disease in children","volume":"28","author":"Fletcher","year":"2013","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ajhg.2018.03.014_bib3","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1136\/jmg.2010.082552","article-title":"Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy","volume":"48","author":"Otto","year":"2011","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2018.03.014_bib4","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1016\/j.kint.2017.06.013","article-title":"Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders","volume":"92","author":"Mallett","year":"2017","journal-title":"Kidney Int."},{"key":"10.1016\/j.ajhg.2018.03.014_bib5","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1007\/s00439-013-1297-0","article-title":"Identification of 99 novel\u00a0mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy","volume":"132","author":"Halbritter","year":"2013","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.03.014_bib6","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1038\/nature15695","article-title":"Kidney organoids from human iPS cells contain multiple lineages and model human nephrogenesis","volume":"526","author":"Takasato","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2018.03.014_bib7","doi-asserted-by":"crossref","first-page":"3081","DOI":"10.1038\/nprot.2007.418","article-title":"Induction of pluripotent stem cells from fibroblast cultures","volume":"2","author":"Takahashi","year":"2007","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2018.03.014_bib8","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1007\/BF00430668","article-title":"The nephronophthisis complex. A clinicopathologic study in children","volume":"394","author":"Waldherr","year":"1982","journal-title":"Virchows Arch. A Pathol. Anat. Histol."},{"key":"10.1016\/j.ajhg.2018.03.014_bib9","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1046\/j.1523-1755.2000.00250.x","article-title":"Estimating prevalence in single-gene kidney diseases progressing to renal failure","volume":"58","author":"Levy","year":"2000","journal-title":"Kidney Int."},{"key":"10.1016\/j.ajhg.2018.03.014_bib10","doi-asserted-by":"crossref","first-page":"a028191","DOI":"10.1101\/cshperspect.a028191","article-title":"Ciliopathies","volume":"9","author":"Braun","year":"2017","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"10.1016\/j.ajhg.2018.03.014_bib11","doi-asserted-by":"crossref","first-page":"9784","DOI":"10.1073\/pnas.171269898","article-title":"Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2","volume":"98","author":"Benzing","year":"2001","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2018.03.014_bib12","doi-asserted-by":"crossref","first-page":"29028","DOI":"10.1074\/jbc.M111697200","article-title":"Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity","volume":"277","author":"Donaldson","year":"2002","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2018.03.014_bib13","doi-asserted-by":"crossref","first-page":"8666","DOI":"10.1038\/ncomms9666","article-title":"Mutations in TRAF3IP1\/IFT54 reveal a new role for IFT proteins in microtubule stabilization","volume":"6","author":"Bizet","year":"2015","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2018.03.014_bib14","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1083\/jcb.201502043","article-title":"The polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells","volume":"211","author":"Yasunaga","year":"2015","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2018.03.014_bib15","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1038\/ng1552","article-title":"Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways","volume":"37","author":"Simons","year":"2005","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2018.03.014_bib16","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1083\/jcb.201009069","article-title":"NPHP4, a cilia-associated protein, negatively regulates the Hippo pathway","volume":"193","author":"Habbig","year":"2011","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2018.03.014_bib17","doi-asserted-by":"crossref","first-page":"3311","DOI":"10.1093\/hmg\/ddp272","article-title":"Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3","volume":"18","author":"Tammachote","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2018.03.014_bib18","doi-asserted-by":"crossref","first-page":"3657","DOI":"10.1172\/JCI80657","article-title":"DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome","volume":"125","author":"Slaats","year":"2015","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.ajhg.2018.03.014_bib19","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/j.molcel.2013.08.006","article-title":"NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies","volume":"51","author":"Choi","year":"2013","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2018.03.014_bib20","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1126\/science.aaf4594","article-title":"Microtubule doublets are double-track railways for intraflagellar transport trains","volume":"352","author":"Stepanek","year":"2016","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2018.03.014_bib21","doi-asserted-by":"crossref","first-page":"1591","DOI":"10.1083\/jcb.143.6.1591","article-title":"Distinct mutants of retrograde intraflagellar transport (IFT) share similar morphological and molecular defects","volume":"143","author":"Piperno","year":"1998","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2018.03.014_bib22","doi-asserted-by":"crossref","first-page":"e1003746","DOI":"10.1371\/journal.pgen.1003746","article-title":"Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome","volume":"9","author":"Miller","year":"2013","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2018.03.014_bib23","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1091\/mbc.e16-11-0813","article-title":"Intraflagellar transport-A complex mediates ciliary entry and retrograde trafficking of ciliary G protein-coupled receptors","volume":"28","author":"Hirano","year":"2017","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ajhg.2018.03.014_bib24","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1083\/jcb.201110049","article-title":"The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking","volume":"197","author":"Liem","year":"2012","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2018.03.014_bib25","doi-asserted-by":"crossref","first-page":"2180","DOI":"10.1101\/gad.1966210","article-title":"TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia","volume":"24","author":"Mukhopadhyay","year":"2010","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2018.03.014_bib26","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/j.cell.2012.12.026","article-title":"The ciliary G-protein-coupled receptor Gpr161 negatively regulates the Sonic hedgehog pathway via cAMP signaling","volume":"152","author":"Mukhopadhyay","year":"2013","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2018.03.014_bib27","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1016\/j.stemcr.2015.10.009","article-title":"Simultaneous reprogramming and gene correction of patient fibroblasts","volume":"5","author":"Howden","year":"2015","journal-title":"Stem Cell Reports"},{"key":"10.1016\/j.ajhg.2018.03.014_bib28","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1089\/cmb.2014.0029","article-title":"Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data","volume":"21","author":"Cleary","year":"2014","journal-title":"J.\u00a0Comput. Biol."},{"key":"10.1016\/j.ajhg.2018.03.014_bib29","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3","volume":"6","author":"Cingolani","year":"2012","journal-title":"Fly (Austin)"},{"key":"10.1016\/j.ajhg.2018.03.014_bib30","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1002\/ana.24650","article-title":"Whole exome sequencing in patients with white matter abnormalities","volume":"79","author":"Vanderver","year":"2016","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ajhg.2018.03.014_bib31","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1016\/j.stemcr.2016.07.001","article-title":"A Cas9 variant for efficient generation of indel-free knockin or gene-corrected human pluripotent stem cells","volume":"7","author":"Howden","year":"2016","journal-title":"Stem Cell Reports"},{"key":"10.1016\/j.ajhg.2018.03.014_bib32","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1038\/nmeth.1593","article-title":"Chemically defined conditions for human iPSC derivation and culture","volume":"8","author":"Chen","year":"2011","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2018.03.014_bib33","doi-asserted-by":"crossref","first-page":"2725","DOI":"10.1038\/nprot.2014.181","article-title":"3D spheroid model of mIMCD3 cells for studying ciliopathies and renal epithelial disorders","volume":"9","author":"Giles","year":"2014","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2018.03.014_bib34","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/nmeth.2019","article-title":"Fiji: an open-source platform for biological-image analysis","volume":"9","author":"Schindelin","year":"2012","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2018.03.014_bib35","doi-asserted-by":"crossref","first-page":"3532","DOI":"10.1093\/bioinformatics\/btw413","article-title":"MorphoLibJ: integrated library and plugins for mathematical morphology with ImageJ","volume":"32","author":"Legland","year":"2016","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2018.03.014_bib36","doi-asserted-by":"crossref","first-page":"2114","DOI":"10.1093\/bioinformatics\/btu170","article-title":"Trimmomatic: a flexible trimmer for Illumina sequence data","volume":"30","author":"Bolger","year":"2014","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2018.03.014_bib37","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","article-title":"STAR: ultrafast universal RNA-seq aligner","volume":"29","author":"Dobin","year":"2013","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2018.03.014_bib38","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1093\/bioinformatics\/btt656","article-title":"featureCounts: an efficient general purpose program for assigning sequence reads to genomic features","volume":"30","author":"Liao","year":"2014","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2018.03.014_bib39","doi-asserted-by":"crossref","first-page":"R25","DOI":"10.1186\/gb-2010-11-3-r25","article-title":"A scaling normalization method for differential expression analysis of RNA-seq data","volume":"11","author":"Robinson","year":"2010","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2018.03.014_bib40","doi-asserted-by":"crossref","first-page":"R29","DOI":"10.1186\/gb-2014-15-2-r29","article-title":"voom: Precision weights unlock linear model analysis tools for RNA-seq read counts","volume":"15","author":"Law","year":"2014","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2018.03.014_bib41","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1093\/nar\/gkv007","article-title":"limma powers differential expression analyses for RNA-sequencing and microarray studies","volume":"43","author":"Ritchie","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2018.03.014_bib42","doi-asserted-by":"crossref","first-page":"e133","DOI":"10.1093\/nar\/gks461","article-title":"Camera: a competitive gene set test accounting for inter-gene correlation","volume":"40","author":"Wu","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2018.03.014_bib43","doi-asserted-by":"crossref","first-page":"W305","DOI":"10.1093\/nar\/gkp427","article-title":"ToppGene Suite for gene list enrichment analysis and candidate gene prioritization","volume":"37","author":"Chen","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2018.03.014_bib44","doi-asserted-by":"crossref","first-page":"D447","DOI":"10.1093\/nar\/gku1003","article-title":"STRING v10: protein-protein interaction networks, integrated over the tree of life","volume":"43","author":"Szklarczyk","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2018.03.014_bib45","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1016\/j.ajhg.2012.03.006","article-title":"Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations","volume":"90","author":"Perrault","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.03.014_bib46","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human Splicing Finder: an online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2018.03.014_bib47","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1002\/humu.22294","article-title":"Combined NGS approaches identify mutations in\u00a0the\u00a0intraflagellar transport gene IFT140 in skeletal ciliopathies\u00a0with early progressive kidney Disease","volume":"34","author":"Schmidts","year":"2013","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2018.03.014_bib48","doi-asserted-by":"crossref","first-page":"2444","DOI":"10.1002\/ajmg.a.31948","article-title":"Conorenal dysplasia: a syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur","volume":"143A","author":"Beals","year":"2007","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2018.03.014_bib49","doi-asserted-by":"crossref","first-page":"1681","DOI":"10.1038\/nprot.2016.098","article-title":"Generation of kidney organoids from human pluripotent stem cells","volume":"11","author":"Takasato","year":"2016","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2018.03.014_bib50","article-title":"Transcriptional evaluation of the developmental accuracy, reproducibility and robustness of kidney organoids derived from human pluripotent stem cells","author":"Phipson","year":"2017","journal-title":"bioRxiv"},{"key":"10.1016\/j.ajhg.2018.03.014_bib51","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1086\/321263","article-title":"Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene","volume":"69","author":"den Hollander","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.03.014_bib52","doi-asserted-by":"crossref","first-page":"F589","DOI":"10.1152\/ajprenal.00615.2010","article-title":"Protein complexes that control renal epithelial polarity","volume":"300","author":"Pieczynski","year":"2011","journal-title":"Am. J. Physiol. Renal Physiol."},{"key":"10.1016\/j.ajhg.2018.03.014_bib53","doi-asserted-by":"crossref","first-page":"4652","DOI":"10.1091\/mbc.e09-02-0137","article-title":"Trafficking of Crumbs3 during cytokinesis is crucial for lumen formation","volume":"20","author":"Schl\u00fcter","year":"2009","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ajhg.2018.03.014_bib54","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1681\/ASN.2012121236","article-title":"Cdc42 deficiency causes ciliary abnormalities and cystic kidneys","volume":"24","author":"Choi","year":"2013","journal-title":"J.\u00a0Am. Soc. Nephrol."},{"key":"10.1016\/j.ajhg.2018.03.014_bib55","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1038\/nrneph.2016.91","article-title":"The epidermal growth factor receptor pathway in chronic kidney diseases","volume":"12","author":"Harskamp","year":"2016","journal-title":"Nat. Rev. Nephrol."},{"key":"10.1016\/j.ajhg.2018.03.014_bib56","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1177\/2472555217716056","article-title":"High-throughput phenotypic screening of kinase inhibitors to identify drug targets for polycystic kidney disease","volume":"22","author":"Booij","year":"2017","journal-title":"SLAS Discov"},{"key":"10.1016\/j.ajhg.2018.03.014_bib57","doi-asserted-by":"crossref","first-page":"4657","DOI":"10.1093\/hmg\/ddx347","article-title":"A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies","volume":"26","author":"Srivastava","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2018.03.014_bib58","doi-asserted-by":"crossref","first-page":"4040","DOI":"10.4161\/cc.22375","article-title":"CDK inhibitors R-roscovitine and S-CR8 effectively block renal and hepatic cystogenesis in an orthologous model of ADPKD","volume":"11","author":"Bukanov","year":"2012","journal-title":"Cell Cycle"},{"key":"10.1016\/j.ajhg.2018.03.014_bib59","doi-asserted-by":"crossref","first-page":"1856","DOI":"10.4161\/cc.7.12.6055","article-title":"Serum and urinary biomarker signatures for rapid preclinical in\u00a0vivo assessment of CDK inhibition as a therapeutic approach for PKD","volume":"7","author":"Moreno","year":"2008","journal-title":"Cell Cycle"},{"key":"10.1016\/j.ajhg.2018.03.014_bib60","doi-asserted-by":"crossref","first-page":"9893","DOI":"10.1073\/pnas.1322373111","article-title":"Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis","volume":"111","author":"Hynes","year":"2014","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2018.03.014_bib61","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1681\/ASN.2011080829","article-title":"Disruption of IFT complex A causes cystic kidneys without mitotic spindle misorientation","volume":"23","author":"Jonassen","year":"2012","journal-title":"J.\u00a0Am. Soc. Nephrol."},{"key":"10.1016\/j.ajhg.2018.03.014_bib62","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1038\/nmat4994","article-title":"Organoid cystogenesis reveals a critical role of microenvironment in human polycystic kidney disease","volume":"16","author":"Cruz","year":"2017","journal-title":"Nat. Mater."},{"key":"10.1016\/j.ajhg.2018.03.014_bib63","doi-asserted-by":"crossref","first-page":"8715","DOI":"10.1038\/ncomms9715","article-title":"Modelling kidney disease with CRISPR-mutant kidney organoids derived from human pluripotent epiblast spheroids","volume":"6","author":"Freedman","year":"2015","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2018.03.014_bib64","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/5944","article-title":"Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes","volume":"21","author":"Lu","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2018.03.014_bib65","doi-asserted-by":"crossref","first-page":"1845","DOI":"10.1093\/hmg\/11.16.1845","article-title":"Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease","volume":"11","author":"Wu","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2018.03.014_bib66","doi-asserted-by":"crossref","first-page":"1549","DOI":"10.1242\/dev.00364","article-title":"Genetic analysis of zebrafish gli1 and gli2 reveals divergent requirements for gli genes in vertebrate development","volume":"130","author":"Karlstrom","year":"2003","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2018.03.014_bib67","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1242\/dev.127.8.1593","article-title":"Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation","volume":"127","author":"Park","year":"2000","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2018.03.014_bib68","doi-asserted-by":"crossref","first-page":"e864","DOI":"10.1371\/journal.pone.0000864","article-title":"An amphioxus Gli gene reveals conservation of midline patterning and the evolution of hedgehog signalling diversity in chordates","volume":"2","author":"Shimeld","year":"2007","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2018.03.014_bib69","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1038\/nrm3598","article-title":"The mechanisms of Hedgehog signalling and its roles in development and disease","volume":"14","author":"Briscoe","year":"2013","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2018.03.014_bib70","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1016\/j.celrep.2017.06.045","article-title":"In\u00a0vitro modeling using ciliopathy-patient-derived cells reveals distinct cilia dysfunctions caused by CEP290 mutations","volume":"20","author":"Shimada","year":"2017","journal-title":"Cell Rep."},{"key":"10.1016\/j.ajhg.2018.03.014_bib71","doi-asserted-by":"crossref","first-page":"2620","DOI":"10.1091\/mbc.e14-05-0961","article-title":"The intraflagellar transport dynein complex of trypanosomes is made of a heterodimer of dynein heavy chains and of light and intermediate chains of distinct functions","volume":"25","author":"Blisnick","year":"2014","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ajhg.2018.03.014_bib72","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1038\/ng1217","article-title":"Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination","volume":"34","author":"Otto","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2018.03.014_bib73","doi-asserted-by":"crossref","first-page":"4711","DOI":"10.1093\/hmg\/ddp434","article-title":"Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1\/PATJ and Par6","volume":"18","author":"Delous","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2018.03.014_bib74","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1007\/s00467-015-3162-y","article-title":"Nephronophthisis: should we target cysts or fibrosis?","volume":"31","author":"Slaats","year":"2016","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ajhg.2018.03.014_bib75","doi-asserted-by":"crossref","first-page":"34845","DOI":"10.1038\/srep34845","article-title":"Bioprinting of 3D convoluted renal proximal tubules on perfusable chips","volume":"6","author":"Homan","year":"2016","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2018.03.014_bib76","doi-asserted-by":"crossref","first-page":"16702","DOI":"10.1038\/srep16702","article-title":"Human proximal tubule epithelial cells cultured on hollow fibers: living membranes that actively transport organic cations","volume":"5","author":"Jansen","year":"2015","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2018.03.014_bib77","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1016\/j.stemcr.2018.01.041","article-title":"Renal subcapsular transplantation of PSC-derived kidney organoids induces neo-vasculogenesis and significant glomerular and tubular maturation in\u00a0vivo","volume":"10","author":"van den Berg","year":"2018","journal-title":"Stem Cell Reports"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929718301034?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929718301034?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:17:28Z","timestamp":1762078648000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929718301034"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5]]},"references-count":77,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["S0002929718301034"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2018.03.014","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.733133236.793547813","asserted-by":"object"}]},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2018,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2018.03.014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}