{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T22:58:26Z","timestamp":1791241106637,"version":"4.1.0"},"reference-count":29,"publisher":"National Academy of Sciences","issue":"8","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2008,2,26]]},"abstract":"<jats:p>\n                    Cilia are present on nearly all cell types in mammals and perform remarkably diverse functions. However, the mechanisms underlying ciliogenesis are unclear. Here, we cloned a previously uncharacterized highly conserved gene,\n                    <jats:italic>stumpy<\/jats:italic>\n                    , located on mouse chromosome 7.\n                    <jats:italic>Stumpy<\/jats:italic>\n                    was ubiquitously expressed, and conditional loss in mouse resulted in complete penetrance of perinatal hydrocephalus (HC) and severe polycystic kidney disease (PKD). We found that cilia in\n                    <jats:italic>stumpy<\/jats:italic>\n                    mutant brain and kidney cells were absent or markedly deformed, resulting in defective flow of cerebrospinal fluid.\n                    <jats:italic>Stumpy<\/jats:italic>\n                    colocalized with ciliary basal bodies, physically interacted with \u03b3-tubulin, and was present along ciliary axonemes, suggesting that\n                    <jats:italic>stumpy<\/jats:italic>\n                    plays a role in ciliary axoneme extension. Therefore,\n                    <jats:italic>stumpy<\/jats:italic>\n                    is essential for ciliogenesis and may be involved in the pathogenesis of human congenital malformations such as HC and PKD.\n                  <\/jats:p>","DOI":"10.1073\/pnas.0712385105","type":"journal-article","created":{"date-parts":[[2008,2,19]],"date-time":"2008-02-19T23:33:56Z","timestamp":1203464036000},"page":"2853-2858","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":92,"title":["The\n                    <i>stumpy<\/i>\n                    gene is required for mammalian ciliogenesis"],"prefix":"10.1073","volume":"105","author":[{"given":"Terrence","family":"Town","sequence":"first","affiliation":[{"name":"Departments of *Immunobiology and"},{"name":"Maxine Dunitz Neurosurgical Institute and Department of Biomedical Sciences, Cedars\u2013Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua J.","family":"Breunig","sequence":"additional","affiliation":[{"name":"Neurobiology and Kavli Institute of Neuroscience,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew R.","family":"Sarkisian","sequence":"additional","affiliation":[{"name":"Neurobiology and Kavli Institute of Neuroscience,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charalampos","family":"Spilianakis","sequence":"additional","affiliation":[{"name":"Departments of *Immunobiology and"},{"name":"Howard Hughes Medical Institute, Yale University School of Medicine, 300 Cedar Street, TAC S-569, New Haven, CT 06519-8011; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert E.","family":"Ayoub","sequence":"additional","affiliation":[{"name":"Neurobiology and Kavli Institute of Neuroscience,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiuxin","family":"Liu","sequence":"additional","affiliation":[{"name":"Neurobiology and Kavli Institute of Neuroscience,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony F.","family":"Ferrandino","sequence":"additional","affiliation":[{"name":"Departments of *Immunobiology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Rachel","family":"Gallagher","sequence":"additional","affiliation":[{"name":"Section of Nephrology, Department of Internal Medicine, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming O.","family":"Li","sequence":"additional","affiliation":[{"name":"Departments of *Immunobiology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasko","family":"Rakic","sequence":"additional","affiliation":[{"name":"Neurobiology and Kavli Institute of Neuroscience,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Flavell","sequence":"additional","affiliation":[{"name":"Departments of *Immunobiology and"},{"name":"Howard Hughes Medical Institute, Yale University School of Medicine, 300 Cedar Street, TAC S-569, New Haven, CT 06519-8011; and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2008,2,26]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.151.5.F37"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00118.2005"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh219"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02153"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1119133"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006111215"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2007.08.034"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/448638a"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1997.192"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.immunol.24.021605.090737"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1112009"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0906-961"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1714"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0232-1513(88)80094-X"},{"key":"e_1_3_3_15_2","unstructured":"Hydrocephalus in Laboratory Mice http:\/\/jaxmice.jax.org\/library\/notes\/490f.html. 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