{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T17:49:05Z","timestamp":1772905745431,"version":"3.50.1"},"reference-count":29,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001738","name":"Ministry of Innovation, Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001738","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005005","name":"Ben-Gurion University of the Negev","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005005","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003977","name":"Israel Science Foundation","doi-asserted-by":"publisher","award":["2463\/23"],"award-info":[{"award-number":["2463\/23"]}],"id":[{"id":"10.13039\/501100003977","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["ajkd.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["American Journal of Kidney Diseases"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1053\/j.ajkd.2025.06.011","type":"journal-article","created":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T23:39:18Z","timestamp":1755128358000},"page":"730-739.e1","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Intronic and Coding Genetic Variants in Autosomal Recessive Polycystic Kidney Disease Among Israeli Bedouins of Arabian Peninsula Ancestry"],"prefix":"10.1053","volume":"86","author":[{"given":"Nadav","family":"Agam","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ohad","family":"Wormser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ari","family":"Biller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noam","family":"Hadar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vadim","family":"Dolgin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ofek","family":"Freund","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matan M.","family":"Jean","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amit","family":"Safran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomer","family":"Poleg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bibi","family":"Kanengisser-Pines","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebekka","family":"Kebesch-Assi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masha","family":"Mazor-Oring","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osnat","family":"Cohen-Zontag","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michal","family":"Zmudjak-Olevson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shlomit","family":"Ben-Menachem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dror","family":"Ben-Ruby","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Omer","family":"Shlomovitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asaf","family":"Vivante","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin","family":"Dekel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1430-1296","authenticated-orcid":false,"given":"Ohad S.","family":"Birk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruth","family":"Schreiber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"4","key":"10.1053\/j.ajkd.2025.06.011_bib1","doi-asserted-by":"crossref","DOI":"10.1016\/j.bbadis.2022.166348","article-title":"The genetics of autosomal recessive polycystic kidney disease (ARPKD)","volume":"1868","author":"Goggolidou","year":"2022","journal-title":"Biochim Biophys Acta Mol Basis Dis"},{"issue":"3","key":"10.1053\/j.ajkd.2025.06.011_bib2","doi-asserted-by":"crossref","first-page":"e833","DOI":"10.1542\/peds.2013-3646","article-title":"Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects","volume":"134","author":"Hartung","year":"2014","journal-title":"Pediatrics"},{"issue":"1","key":"10.1053\/j.ajkd.2025.06.011_bib3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/01.md.0000200165.90373.9a","article-title":"Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD)","volume":"85","author":"Adeva","year":"2006","journal-title":"Medicine (Baltimore)"},{"issue":"5","key":"10.1053\/j.ajkd.2025.06.011_bib4","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1542\/peds.111.5.1072","article-title":"Autosomal recessive polycystic kidney disease: the clinical experience in North America","volume":"111","author":"Guay-Woodford","year":"2003","journal-title":"Pediatrics"},{"issue":"3","key":"10.1053\/j.ajkd.2025.06.011_bib5","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1111\/j.1523-1755.2005.00148.x","article-title":"Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)","volume":"67","author":"Bergmann","year":"2005","journal-title":"Kidney Int"},{"issue":"3","key":"10.1053\/j.ajkd.2025.06.011_bib6","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1038\/ng833","article-title":"The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein","volume":"30","author":"Ward","year":"2002","journal-title":"Nat Genet"},{"issue":"3","key":"10.1053\/j.ajkd.2025.06.011_bib7","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1038\/ng0794-429","article-title":"Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen","volume":"7","author":"Zerres","year":"1994","journal-title":"Nat Genet"},{"issue":"8","key":"10.1053\/j.ajkd.2025.06.011_bib8","doi-asserted-by":"crossref","first-page":"2311","DOI":"10.1073\/pnas.0400073101","article-title":"PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells","volume":"101","author":"Zhang","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"8","key":"10.1053\/j.ajkd.2025.06.011_bib9","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1016\/j.ekir.2020.05.008","article-title":"Reconsidering genetic testing for neonatal polycystic kidney disease","volume":"5","author":"VanNoy","year":"2020","journal-title":"Kidney Int Rep"},{"issue":"7","key":"10.1053\/j.ajkd.2025.06.011_bib10","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1038\/ng.3871","article-title":"Mutations in DZIP1L, which encodes a ciliary transition zone protein, cause autosomal recessive polycystic kidney disease","volume":"49","author":"Lu","year":"2017","journal-title":"Nat Genet"},{"issue":"9","key":"10.1053\/j.ajkd.2025.06.011_bib11","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1038\/jhg.2016.58","article-title":"Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis","volume":"61","author":"Melchionda","year":"2016","journal-title":"J Hum Genet"},{"issue":"2","key":"10.1053\/j.ajkd.2025.06.011_bib12","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1038\/hdy.2013.90","article-title":"Deciphering the fine-structure of tribal admixture in the Bedouin population using genomic data","volume":"112","author":"Markus","year":"2014","journal-title":"Heredity"},{"issue":"5","key":"10.1053\/j.ajkd.2025.06.011_bib13","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1007\/s00439-024-02671-4","article-title":"VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19","volume":"143","author":"Hadar","year":"2024","journal-title":"Hum Genet"},{"issue":"4","key":"10.1053\/j.ajkd.2025.06.011_bib14","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1002\/humu.24336","article-title":"Qatar genome: insights on genomics from the Middle East","volume":"43","author":"Mbarek","year":"2022","journal-title":"Hum Mutat"},{"key":"10.1053\/j.ajkd.2025.06.011_bib15","doi-asserted-by":"crossref","DOI":"10.1038\/hgv.2016.16","article-title":"The Qatar genome: a population-specific tool for precision medicine in the Middle East","volume":"3","author":"Fakhro","year":"2016","journal-title":"Hum Genome Var"},{"issue":"3","key":"10.1053\/j.ajkd.2025.06.011_bib16","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","article-title":"Predicting splicing from primary sequence with deep learning","volume":"176","author":"Jaganathan","year":"2019","journal-title":"Cell"},{"issue":"9","key":"10.1053\/j.ajkd.2025.06.011_bib17","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"},{"issue":"13","key":"10.1053\/j.ajkd.2025.06.011_bib18","doi-asserted-by":"crossref","first-page":"3568","DOI":"10.1093\/nar\/gkg616","article-title":"ESEfinder: a web resource to identify exonic splicing enhancers","volume":"31","author":"Cartegni","year":"2003","journal-title":"Nucleic Acids Res"},{"issue":"8","key":"10.1053\/j.ajkd.2025.06.011_bib19","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1093\/bioinformatics\/btv710","article-title":"Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications","volume":"32","author":"Chen","year":"2016","journal-title":"Bioinformatics"},{"issue":"7809","key":"10.1053\/j.ajkd.2025.06.011_bib20","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"10.1053\/j.ajkd.2025.06.011_bib21","doi-asserted-by":"crossref","unstructured":"Little J, Higgins JP, Ioannidis JP, et al; Strengthening the Reporting of Genetic Association Studies. Strengthening the Reporting of Genetic Association Studies (STREGA): an extension of the STROBE statement. PLoS Med. 6(2): e1000022. doi:10.1371\/journal.pmed.1000022","DOI":"10.1371\/journal.pmed.1000022"},{"issue":"6","key":"10.1053\/j.ajkd.2025.06.011_bib22","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.3390\/cells10061413","article-title":"Urine-derived epithelial cells as models for genetic kidney diseases","volume":"10","author":"Bondue","year":"2021","journal-title":"Cells"},{"key":"10.1053\/j.ajkd.2025.06.011_bib23","article-title":"Moving to a new dimension: 3D kidney cultures for kidney regeneration","volume":"22","author":"Namestnikov","year":"2022","journal-title":"Curr Opin Biomed Eng"},{"issue":"5","key":"10.1053\/j.ajkd.2025.06.011_bib24","doi-asserted-by":"crossref","first-page":"297","DOI":"10.5414\/CN108345","article-title":"Neonatal ascites in autosomal recessive polycystic kidney disease (ARPKD)","volume":"83","author":"Ling","year":"2015","journal-title":"Clin Nephrol"},{"issue":"6","key":"10.1053\/j.ajkd.2025.06.011_bib25","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1053\/j.ajkd.2023.12.011","article-title":"A deep intronic PKHD1 variant identified by SpliceAI in a deceased neonate with autosomal recessive polycystic kidney disease","volume":"83","author":"Richter","year":"2024","journal-title":"Am J Kidney Dis"},{"issue":"2","key":"10.1053\/j.ajkd.2025.06.011_bib26","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1111\/j.1399-0004.2008.01106.x","article-title":"Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease","volume":"75","author":"Michel-Calemard","year":"2009","journal-title":"Clin Genet"},{"issue":"3","key":"10.1053\/j.ajkd.2025.06.011_bib27","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/s10038-018-0550-8","article-title":"A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation","volume":"64","author":"Chen","year":"2019","journal-title":"J Hum Genet"},{"issue":"2-3","key":"10.1053\/j.ajkd.2025.06.011_bib28","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1089\/1066527041410418","article-title":"Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals","volume":"11","author":"Yeo","year":"2004","journal-title":"J Comput Biol"},{"issue":"10","key":"10.1053\/j.ajkd.2025.06.011_bib29","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1007\/s00109-014-1185-7","article-title":"Intragenic motifs regulate the transcriptional complexity of Pkhd1\/PKHD1","volume":"92","author":"Boddu","year":"2014","journal-title":"J Mol Med (Berl)"}],"container-title":["American Journal of Kidney Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0272638625009710?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0272638625009710?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T01:55:25Z","timestamp":1772848525000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0272638625009710"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":29,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["S0272638625009710"],"URL":"https:\/\/doi.org\/10.1053\/j.ajkd.2025.06.011","relation":{},"ISSN":["0272-6386"],"issn-type":[{"value":"0272-6386","type":"print"}],"subject":[],"published":{"date-parts":[[2025,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Intronic and Coding Genetic Variants in Autosomal Recessive Polycystic Kidney Disease Among Israeli Bedouins of Arabian Peninsula Ancestry","name":"articletitle","label":"Article Title"},{"value":"American Journal of Kidney Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1053\/j.ajkd.2025.06.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 by the National Kidney Foundation, Inc.","name":"copyright","label":"Copyright"}]}}