{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T18:09:19Z","timestamp":1775239759650,"version":"3.50.1"},"reference-count":58,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2009,2,22]],"date-time":"2009-02-22T00:00:00Z","timestamp":1235260800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Developmental Dynamics"],"published-print":{"date-parts":[[2009,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Vertebrate organs show consistent left\u2013right (L\u2010R) asymmetry in placement and patterning. To identify genes involved in this process we performed an ENU\u2010based genetic screen. Of 135 lines analyzed 11 showed clear single gene defects affecting L\u2010R patterning, including 3 new alleles of known L\u2010R genes and mutants in novel L\u2010R loci. We identified six lines (termed \u201cgasping\u201d) that, in addition to abnormal L\u2010R patterning and associated cardiovascular defects, had complex phenotypes including pulmonary agenesis, exencephaly, polydactyly, ocular and craniofacial malformations. These complex abnormalities are present in certain human disease syndromes (e.g., HYLS, SRPS, VACTERL). Gasping embryos also show defects in ciliogenesis, suggesting a role for cilia in these human congenital malformation syndromes. Our results indicate that genes controlling ciliogenesis and left\u2013right asymmetry have, in addition to their known roles in cardiac patterning, major and unexpected roles in pulmonary, craniofacial, ocular and limb development with implications for human congenital malformation syndromes. Developmental Dynamics 238:581\u2013594, 2009. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/dvdy.21874","type":"journal-article","created":{"date-parts":[[2009,2,22]],"date-time":"2009-02-22T22:01:56Z","timestamp":1235340116000},"page":"581-594","source":"Crossref","is-referenced-by-count":32,"title":["Mouse mutagenesis identifies novel roles for left\u2013right patterning genes in pulmonary, craniofacial, ocular, and limb development"],"prefix":"10.1002","volume":"238","author":[{"given":"Alexander","family":"Ermakov","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan L.","family":"Stevens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine","family":"Whitehill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joan E.","family":"Robson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guido","family":"Pieles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debra","family":"Brooker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paraskevi","family":"Goggolidou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola","family":"Powles\u2010Glover","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terry","family":"Hacker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen R.","family":"Young","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neil","family":"Dear","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Hirst","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zuzanna","family":"Tymowska\u2010Lalanne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Briscoe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shoumo","family":"Bhattacharya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominic P.","family":"Norris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,2,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90219-4"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1219"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.152337699"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0177(199604)205:4<471::AID-AJA10>3.0.CO;2-4"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0500584102"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/381155a0"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1134"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1181"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature04117"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1684"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0501071102"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0010053"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng812"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.82.19.6619"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/78146"},{"key":"e_1_2_6_17_1","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1093\/oxfordjournals.jhered.a106870","article-title":"Visceral inversion and associated anomalies in the mouse","volume":"50","author":"Hummel KP","year":"1955","journal-title":"J Hered"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg061"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.938601"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.14.3795"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01865"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.590503.x"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1714"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jhered.a108749"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mod.2004.08.006"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/1717"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01894"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.9.5043"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00511-7"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi157"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1994.tb06480.x"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/1711"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1076"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/78140"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81705-5"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.0030268"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.129.14.3455"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80197-5"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(02)00869-2"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(98)70446-4"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2005.07.038"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.127.12.2763"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/152.1.373"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000140220.46477.5C"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.76.11.5818"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.122.3.653"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2006.04.013"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20656"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.1.180"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02384"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1002010309"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1038\/40140"},{"key":"e_1_2_6_53_1","doi-asserted-by":"crossref","first-page":"5495","DOI":"10.1242\/dev.126.23.5495","article-title":"Targeted deletion of the ATP binding domain of left\u2010right dynein confirms its role in specifying development of left\u2010right asymmetries","volume":"126","author":"Supp DM","year":"1999","journal-title":"Development"},{"key":"e_1_2_6_54_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.145.4.825"},{"key":"e_1_2_6_55_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature03494"},{"key":"e_1_2_6_56_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-007-0435-0"},{"key":"e_1_2_6_57_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.20.11376"},{"key":"e_1_2_6_58_1","doi-asserted-by":"publisher","DOI":"10.1038\/71724"},{"key":"e_1_2_6_59_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.13.19.2527"}],"container-title":["Developmental Dynamics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fdvdy.21874","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/anatomypubs.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/dvdy.21874","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T21:34:25Z","timestamp":1760391265000},"score":1,"resource":{"primary":{"URL":"https:\/\/anatomypubs.onlinelibrary.wiley.com\/doi\/10.1002\/dvdy.21874"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2,22]]},"references-count":58,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,3]]}},"alternative-id":["10.1002\/dvdy.21874"],"URL":"https:\/\/doi.org\/10.1002\/dvdy.21874","archive":["Portico"],"relation":{},"ISSN":["1058-8388","1097-0177"],"issn-type":[{"value":"1058-8388","type":"print"},{"value":"1097-0177","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2,22]]}}}