{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T18:54:39Z","timestamp":1789757679729,"version":"4.0.1"},"reference-count":20,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,11,2]],"date-time":"2022-11-02T00:00:00Z","timestamp":1667347200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100011912","name":"Taipei Veterans General Hospital","doi-asserted-by":"publisher","award":["V111C-102"],"award-info":[{"award-number":["V111C-102"]}],"id":[{"id":"10.13039\/501100011912","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology, Taiwan","doi-asserted-by":"publisher","award":["110-2628-B-075-010"],"award-info":[{"award-number":["110-2628-B-075-010"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007354","name":"Yen Tjing Ling Medical Foundation","doi-asserted-by":"publisher","award":["CI-111-29"],"award-info":[{"award-number":["CI-111-29"]}],"id":[{"id":"10.13039\/501100007354","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2022,12]]},"DOI":"10.1016\/j.ymgmr.2022.100937","type":"journal-article","created":{"date-parts":[[2022,11,8]],"date-time":"2022-11-08T00:38:58Z","timestamp":1667867938000},"page":"100937","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"special_numbering":"C","title":["Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy"],"prefix":"10.1016","volume":"33","author":[{"given":"Tsai-Chu","family":"Yeh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dau-Ming","family":"Niu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui-Chen","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun-Ru","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Zhen","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu-Ping","family":"Tsui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting-Wei Ernie","family":"Liao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"An-Guor","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chia-Feng","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgmr.2022.100937_bb0005","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1007\/s00467-010-1731-7","article-title":"Ciliopathies: an expanding disease spectrum","volume":"26","author":"Waters","year":"2011","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ymgmr.2022.100937_bb0010","first-page":"652","article-title":"Review: Intraflagellar transport proteins in the retina","volume":"26","author":"Kannabiran","year":"2020","journal-title":"Mol. Vis."},{"key":"10.1016\/j.ymgmr.2022.100937_bb0015","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1083\/jcb.201206068","article-title":"The role of retrograde intraflagellar transport in flagellar assembly, maintenance, and function","volume":"199","author":"Engel","year":"2012","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.ymgmr.2022.100937_bb0020","doi-asserted-by":"crossref","first-page":"2633","DOI":"10.2741\/2871","article-title":"Intraflagellar transport: from molecular characterisation to mechanism","volume":"13","author":"Blacque","year":"2008","journal-title":"Front. Biosci."},{"key":"10.1016\/j.ymgmr.2022.100937_bb0025","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. Cell Biol."},{"key":"10.1016\/j.ymgmr.2022.100937_bb0030","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.ymgmr.2022.100937_bb0035","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.ymgmr.2022.100937_bb0040","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/s13023-020-1303-2","article-title":"Compound heterozygous IFT140 variants in two polish families with Sensenbrenner syndrome and early onset end-stage renal disease","volume":"15","author":"Walczak-Sztulpa","year":"2020","journal-title":"Orphanet. J. Rare Dis."},{"key":"10.1016\/j.ymgmr.2022.100937_bb0045","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1111\/cge.12924","article-title":"Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy","volume":"91","author":"Pena-Padilla","year":"2017","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgmr.2022.100937_bb0050","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1002\/ajmg.c.30231","article-title":"Making sense of cilia in disease: the human ciliopathies","volume":"151C","author":"Baker","year":"2009","journal-title":"Am. J. Med. Genet. C: Semin. Med. Genet."},{"key":"10.1016\/j.ymgmr.2022.100937_bb0055","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1038\/nrg2774","article-title":"The primary cilium: a signalling Centre during vertebrate development","volume":"11","author":"Goetz","year":"2010","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ymgmr.2022.100937_bb0060","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1007\/BF00279301","article-title":"Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis","volume":"68","author":"Zerres","year":"1984","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgmr.2022.100937_bb0065","first-page":"1","article-title":"Clinical characteristics of individual organ system disease in non-motile ciliopathies","volume":"4","author":"Grochowsky","year":"2019","journal-title":"Transl. Sci. Rare. Dis."},{"key":"10.1016\/j.ymgmr.2022.100937_bb0070","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1097\/GCO.0000000000000348","article-title":"Renal cystic disease and associated ciliopathies","volume":"29","author":"Kagan","year":"2017","journal-title":"Curr. Opin. Obstet. Gynecol."},{"key":"10.1016\/j.ymgmr.2022.100937_bb0075","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1136\/bjophthalmol-2015-307555","article-title":"The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy","volume":"100","author":"Bifari","year":"2016","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.ymgmr.2022.100937_bb0080","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13630-018-0055-2","article-title":"Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis","volume":"7","author":"Oud","year":"2018","journal-title":"Cilia"},{"key":"10.1016\/j.ymgmr.2022.100937_bb0085","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2020.104073","article-title":"IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: a new association","volume":"63","author":"Montolio-Marzo","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ymgmr.2022.100937_bb0090","series-title":"Photoreceptor Sensory Cilium: Traversing the Ciliary Gate Cells","first-page":"674","volume":"4","author":"Khanna","year":"2015"},{"key":"10.1016\/j.ymgmr.2022.100937_bb0095","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1016\/j.ajhg.2013.10.003","article-title":"Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy","volume":"93","author":"Schmidts","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgmr.2022.100937_bb0100","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1002\/humu.22294","article-title":"Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney","volume":"34","author":"Schmidts","year":"2013","journal-title":"Dis. Hum. Mutat."}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426922000970?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426922000970?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:53:37Z","timestamp":1762001617000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426922000970"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12]]},"references-count":20,"alternative-id":["S2214426922000970"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2022.100937","relation":{},"ISSN":["2214-4269"],"issn-type":[{"value":"2214-4269","type":"print"}],"subject":[],"published":{"date-parts":[[2022,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2022.100937","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"100937"}}