{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T03:47:49Z","timestamp":1776916069747,"version":"3.51.2"},"reference-count":64,"publisher":"Wiley","issue":"15","license":[{"start":{"date-parts":[[2022,7,4]],"date-time":"2022-07-04T00:00:00Z","timestamp":1656892800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2021YFC270101"],"award-info":[{"award-number":["2021YFC270101"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81741085"],"award-info":[{"award-number":["81741085"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81470786"],"award-info":[{"award-number":["81470786"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81971197"],"award-info":[{"award-number":["81971197"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Nonsyndromic cleft palate only (NSCP) is a common congenital malformation worldwide. In this study, we report a three\u2010generation pedigree with NSCP following the autosomal\u2010dominant pattern. Whole\u2010exome sequencing and Sanger sequencing revealed that only the frameshift variant c.1012dupG [p. E338Gfs*26] in<jats:italic>PARD3<\/jats:italic>cosegregated with the disease. In zebrafish embryos, ethmoid plate patterning defects were observed with PARD3 ortholog disruption or expression of patient\u2010derived N\u2010terminal truncating<jats:italic>PARD3<\/jats:italic>(c.1012dupG), which implicated PARD3 in ethmoid plate morphogenesis. PARD3 plays vital roles in determining cellular polarity. Compared with the apical distribution of wild\u2010type PARD3, PARD3\u2010p. E338Gfs*26 mainly localized to the basal membrane in 3D\u2010cultured MCF\u201010A epithelial cells. The interaction between PARD3\u2010p. E338Gfs*26 and endogenous PARD3 was identified by LC\u2013MS\/MS and validated by co\u2010IP. Immunofluorescence analysis showed that PARD3\u2010p. E338Gfs*26 substantially altered the localization of endogenous PARD3 to the basement membrane in 3D\u2010cultured MCF\u201010A cells. Furthermore, seven variants, including one nonsense variant and six missense variants, were identified in the coding region of<jats:italic>PARD3<\/jats:italic>in sporadic cases with NSCP. Subsequent analysis showed that PARD3\u2010p. R133*, like the insertion variant of c.1012dupG, also changed the localization of endogenous full\u2010length PARD3 and that its expression induced abnormal ethmoid plate morphogenesis in zebrafish. Based on these data, we reveal<jats:italic>PARD3<\/jats:italic>gene variation as a novel candidate cause of nonsyndromic cleft palate only.<\/jats:p>","DOI":"10.1111\/jcmm.17452","type":"journal-article","created":{"date-parts":[[2022,7,5]],"date-time":"2022-07-05T05:41:21Z","timestamp":1656999681000},"page":"4292-4304","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["<scp><i>PARD3<\/i><\/scp>gene variation as candidate cause of nonsyndromic cleft palate only"],"prefix":"10.1111","volume":"26","author":[{"given":"Renjie","family":"Cui","sequence":"first","affiliation":[{"name":"Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, Department of Biochemistry and Molecular Biology, Collaborative Innovation Center of Genetics and Development, Institutes of Biomedical Sciences, School of Basic Medical Sciences, Shanghai Medical College Fudan University Shanghai China"},{"name":"Shanghai Ninth People\u2019s Hospital Shanghai JiaoTong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dingli","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Central Hospital of Handan Hebei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Na","family":"Li","sequence":"additional","affiliation":[{"name":"Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, Department of Biochemistry and Molecular Biology, Collaborative Innovation Center of Genetics and Development, Institutes of Biomedical Sciences, School of Basic Medical Sciences, Shanghai Medical College Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming","family":"Cai","sequence":"additional","affiliation":[{"name":"Shanghai Ninth People\u2019s Hospital Shanghai JiaoTong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teng","family":"Wan","sequence":"additional","affiliation":[{"name":"Shanghai Ninth People\u2019s Hospital Shanghai JiaoTong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xueqiang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Central Hospital of Handan Hebei China"},{"name":"Oral and Maxillofacial Surgery Central Hospital of Handan Hebei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6069-9496","authenticated-orcid":false,"given":"Meiqin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, Department of Biochemistry and Molecular Biology, Collaborative Innovation Center of Genetics and Development, Institutes of Biomedical Sciences, School of Basic Medical Sciences, Shanghai Medical College Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sichen","family":"Du","sequence":"additional","affiliation":[{"name":"Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, Department of Biochemistry and Molecular Biology, Collaborative Innovation Center of Genetics and Development, Institutes of Biomedical Sciences, School of Basic Medical Sciences, Shanghai Medical College Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huayuan","family":"Ou","sequence":"additional","affiliation":[{"name":"Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, Department of Biochemistry and Molecular Biology, Collaborative Innovation Center of Genetics and Development, Institutes of Biomedical Sciences, School of Basic Medical Sciences, Shanghai Medical College Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianjun","family":"Jiao","sequence":"additional","affiliation":[{"name":"Oral and Maxillofacial Surgery Central Hospital of Handan Hebei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nan","family":"Jiang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, Department of Biochemistry and Molecular Biology, Collaborative Innovation Center of Genetics and Development, Institutes of Biomedical Sciences, School of Basic Medical Sciences, Shanghai Medical College Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuangxia","family":"Zhao","sequence":"additional","affiliation":[{"name":"Shanghai Ninth People\u2019s Hospital Shanghai JiaoTong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huaidong","family":"Song","sequence":"additional","affiliation":[{"name":"Shanghai Ninth People\u2019s Hospital Shanghai JiaoTong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuedong","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Central Hospital of Handan Hebei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Duan","family":"Ma","sequence":"additional","affiliation":[{"name":"Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, Department of Biochemistry and Molecular Biology, Collaborative Innovation Center of Genetics and Development, Institutes of Biomedical Sciences, School of Basic Medical Sciences, Shanghai Medical College Fudan University Shanghai China"},{"name":"Children\u2019s Hospital of Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2393-7897","authenticated-orcid":false,"given":"Jin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, Department of Biochemistry and Molecular Biology, Collaborative Innovation Center of Genetics and Development, Institutes of Biomedical Sciences, School of Basic Medical Sciences, Shanghai Medical College Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shouxia","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Central Hospital of Handan Hebei China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,7,4]]},"reference":[{"issue":"1","key":"e_1_2_9_2_1","first-page":"33","article-title":"Seasonality, incidence, and sex distribution of cleft lip and palate births in Trent Region, 1973\u20131982","volume":"25","author":"Coupland MA","year":"1988","journal-title":"Cleft Palate J"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.103.Supplement.41"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(2002)039<0149:NCLWOW>2.0.CO;2"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2016.00067"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0810-727"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms7414"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.6.399"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1042\/CS19990272"},{"issue":"3","key":"e_1_2_9_10_1","first-page":"168","article-title":"Association of the WNT3 variations and the risk of non\u2010syndromic cleft lip and palate in a population of Iranian infants","volume":"10","author":"Farrokhi Karibozorg H","year":"2018","journal-title":"Avicenna J Med Biotechnol"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23596"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23076"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.02.013"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12288"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2005.03.014"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1534-5807(02)00176-4"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.25014"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200506094"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.neuro.29.051605.112933"},{"issue":"2","key":"e_1_2_9_20_1","first-page":"180","article-title":"Cell adhesion to the apical pole of epithelium: a function of cell polarity","volume":"66","author":"Thie M","year":"1995","journal-title":"Eur J Cell Biol"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.cellbio.24.110707.175339"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0079-6107(02)00037-8"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2443.2012.01601.x"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034516656787"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.20641"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1095\/biolreprod.110.084400"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.3990"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2007.133132"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.152.6.1183"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1046-2023(03)00032-X"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2008.09.089"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22713"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01943"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02281"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e318260f20b"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2008.01.001"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01146"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01720"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23626"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-019-0690-2"},{"key":"e_1_2_9_43_1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"2001"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms14364"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13141"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.04.009"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10497"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5962"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg248"},{"issue":"3","key":"e_1_2_9_50_1","first-page":"563","article-title":"Facial and visceral arch development in the mouse embryo: a study by scanning electron microscopy","volume":"124","author":"Tamarin A","year":"1977","journal-title":"J Anat"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.20646"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2011.08.005"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00907"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.067082"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.113.18.3267"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.15252\/embr.201439951"},{"key":"e_1_2_9_57_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1226"},{"key":"e_1_2_9_58_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M303593200"},{"key":"e_1_2_9_59_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc1695"},{"key":"e_1_2_9_60_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2007.10.007"},{"key":"e_1_2_9_61_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0383-1"},{"key":"e_1_2_9_62_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz170"},{"key":"e_1_2_9_63_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1003757"},{"key":"e_1_2_9_64_1","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.1550"},{"key":"e_1_2_9_65_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.7.9.1737"}],"container-title":["Journal of Cellular and Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jcmm.17452","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jcmm.17452","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jcmm.17452","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,24]],"date-time":"2023-11-24T05:07:23Z","timestamp":1700802443000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jcmm.17452"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,4]]},"references-count":64,"journal-issue":{"issue":"15","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["10.1111\/jcmm.17452"],"URL":"https:\/\/doi.org\/10.1111\/jcmm.17452","archive":["Portico"],"relation":{},"ISSN":["1582-1838","1582-4934"],"issn-type":[{"value":"1582-1838","type":"print"},{"value":"1582-4934","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,4]]},"assertion":[{"value":"2022-01-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}