{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T13:39:35Z","timestamp":1772890775564,"version":"3.50.1"},"reference-count":33,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,1,14]],"date-time":"2024-01-14T00:00:00Z","timestamp":1705190400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal Cellular Physiology"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Joubert syndrome (JBTS) is a systematic developmental disorder mainly characterized by a pathognomonic mid\u2010hindbrain malformation. All known JBTS\u2010associated genes encode proteins involved in the function of antenna\u2010like cellular organelle, primary cilium, which plays essential roles in cellular signal transduction and development. Here, we identified four unreported variants in <jats:italic>ARL13B<\/jats:italic> in two patients with the classical features of JBTS. ARL13B is a member of the Ras GTPase family and functions in ciliogenesis and cilia\u2010related signaling. The two missense variants in <jats:italic>ARL13B<\/jats:italic> harbored the substitutions of amino acids at evolutionarily conserved positions. Using model cell lines, we found that the accumulations of the missense variants in cilia were impaired and the variants showed attenuated functions in ciliogenesis or the trafficking of INPP5E. Overall, these findings expanded the <jats:italic>ARL13B<\/jats:italic> pathogenetic variant spectrum of JBTS.<\/jats:p>","DOI":"10.1002\/jcp.31189","type":"journal-article","created":{"date-parts":[[2024,1,14]],"date-time":"2024-01-14T07:03:25Z","timestamp":1705215805000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Novel compound heterozygous variants in <i>ARL13B<\/i> lead to Joubert syndrome"],"prefix":"10.1002","volume":"239","author":[{"given":"Zaisheng","family":"Lin","sequence":"first","affiliation":[{"name":"International Peace Maternity and Child Health Hospital, Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue","family":"Shen","sequence":"additional","affiliation":[{"name":"National Human Genetic Resources Center National Research Institute for Family Planning Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Li","sequence":"additional","affiliation":[{"name":"International Peace Maternity and Child Health Hospital, Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao","family":"Lu","sequence":"additional","affiliation":[{"name":"National Human Genetic Resources Center National Research Institute for Family Planning Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Zhu","sequence":"additional","affiliation":[{"name":"International Peace Maternity and Child Health Hospital, Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruida","family":"He","sequence":"additional","affiliation":[{"name":"International Peace Maternity and Child Health Hospital, Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zongfu","family":"Cao","sequence":"additional","affiliation":[{"name":"National Human Genetic Resources Center National Research Institute for Family Planning Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhe","family":"Yin","sequence":"additional","affiliation":[{"name":"National Human Genetic Resources Center National Research Institute for Family Planning Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huafang","family":"Gao","sequence":"additional","affiliation":[{"name":"National Human Genetic Resources Center National Research Institute for Family Planning Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bin","family":"Guo","sequence":"additional","affiliation":[{"name":"International Peace Maternity and Child Health Hospital, Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xu","family":"Ma","sequence":"additional","affiliation":[{"name":"National Human Genetic Resources Center National Research Institute for Family Planning Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0352-6548","authenticated-orcid":false,"given":"Muqing","family":"Cao","sequence":"additional","affiliation":[{"name":"International Peace Maternity and Child Health Hospital, Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Department of Pathophysiology Shanghai Jiao Tong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minna","family":"Luo","sequence":"additional","affiliation":[{"name":"National Human Genetic Resources Center National Research Institute for Family Planning Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,1,14]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41581-019-0116-9"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103087"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.06.023"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2007.03.004"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.036350"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.cellbio.23.090506.123249"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1414"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2278"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31963"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.50434"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.11859"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.201116"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-05867-1"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1210916109"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/emm.2016.63"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E10-12-0994"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2009.12.022"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.576235"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01106-z"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E16-03-0189"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-023-00587-9"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E22-10-0473"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0955-0674(02)00012-1"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0012162201001529"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0031-0"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm952"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-1099-5"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-020-01130-x"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01240"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.156"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-022-31751-0"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-121321-093528"}],"container-title":["Journal of Cellular Physiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcp.31189","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T10:52:20Z","timestamp":1752749540000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcp.31189"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,14]]},"references-count":33,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,4]]}},"alternative-id":["10.1002\/jcp.31189"],"URL":"https:\/\/doi.org\/10.1002\/jcp.31189","archive":["Portico"],"relation":{},"ISSN":["0021-9541","1097-4652"],"issn-type":[{"value":"0021-9541","type":"print"},{"value":"1097-4652","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,14]]},"assertion":[{"value":"2023-08-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-14","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e31189"}}