{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:24:01Z","timestamp":1777659841110,"version":"3.51.4"},"reference-count":32,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2016,5,26]],"date-time":"2016-05-26T00:00:00Z","timestamp":1464220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:p>\n                    <jats:italic toggle=\"yes\">Objective:<\/jats:italic>\n                    Nonsyndromic cleft lip with or without cleft palate (nsCL\/P) is among the most common birth defects, with a birth prevalence of 1\/1000 in Caucasians.\n                    <jats:italic toggle=\"yes\">MSX1<\/jats:italic>\n                    (muscle segment homeobox gene 1) is a strong candidate gene for nsCL\/P. The aim of this study was to investigate the association between\n                    <jats:italic toggle=\"yes\">MSX1<\/jats:italic>\n                    variants and nsCL\/P in Turkish patients.\n                    <jats:italic toggle=\"yes\">Patients and Methods:<\/jats:italic>\n                    Our study included 80 patients with nsCL\/P and 125 age-matched healthy individuals. Genomic DNA was isolated from peripheral blood leukocytes and exon 2 of the MSX1 gene was amplified using polymerase chain reaction (PCR). After PCR, we sequenced the products using an automated sequencer.\n                    <jats:italic toggle=\"yes\">Results:<\/jats:italic>\n                    We found the c.*6C\u2009&gt;\u2009T variation in the MSX1 gene. This variant in the 3\u2032 untranslated region is located 6\u2009bp downstream of the stop codon (TAG) in exon 2. Forty-eight individuals (60%) of 80 in the case group had the CT genotype. We revealed a statistically significant association between the\n                    <jats:italic toggle=\"yes\">MSX1<\/jats:italic>\n                    c.*6C\u2009&gt;\u2009T variant and nsCL\/P in Turkey (\n                    <jats:italic toggle=\"yes\">p<\/jats:italic>\n                    \u2009=\u20090.01).\n                    <jats:italic toggle=\"yes\">Conclusion:<\/jats:italic>\n                    Our identification of the c.*6C\u2009&gt;\u2009T variant appears to be the first reported result associating variants of the\n                    <jats:italic toggle=\"yes\">MSX1<\/jats:italic>\n                    gene with nsCL\/P patients.\n                  <\/jats:p>","DOI":"10.1089\/gtmb.2015.0341","type":"journal-article","created":{"date-parts":[[2016,5,26]],"date-time":"2016-05-26T16:08:53Z","timestamp":1464278933000},"page":"402-405","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Association of\n                    <i>MSX1<\/i>\n                    c.*6C\u2009&gt;\u2009T Variant with Nonsyndromic Cleft Lip With or Without Cleft Palate in Turkish Patients"],"prefix":"10.1177","volume":"20","author":[{"given":"Deniz","family":"Aslar Oner","sequence":"first","affiliation":[{"name":"Gazi University","place":["Turkey"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hakki","family":"Tastan","sequence":"additional","affiliation":[{"name":"Gazi University","place":["Turkey"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2016,5,26]]},"reference":[{"key":"e_1_3_2_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.cr.7290185"},{"key":"e_1_3_2_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2011.01.007"},{"key":"e_1_3_2_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30887"},{"key":"e_1_3_2_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001665-200303000-00002"},{"key":"e_1_3_2_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2007.06.007"},{"key":"e_1_3_2_7_1","doi-asserted-by":"publisher","DOI":"10.4103\/0975-962X.144717"},{"key":"e_1_3_2_8_1","doi-asserted-by":"publisher","DOI":"10.1042\/BC20080104"},{"key":"e_1_3_2_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0218-x"},{"key":"e_1_3_2_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0035347"},{"key":"e_1_3_2_11_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569_2003_040_0481_ssaoci_2.0.co_2"},{"key":"e_1_3_2_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980827)79:1<42::AID-AJMG11>3.0.CO;2-M"},{"key":"e_1_3_2_13_1","first-page":"336","article-title":"The genetics of cleft lip and cleft palate","volume":"22","author":"Fraser FC","year":"1970","unstructured":"Fraser FC (1970) The genetics of cleft lip and cleft palate. Am J Hum Genet, 22:336-352.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_2_14_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569_2001_038_0486_pamaoa_2.0.co_2"},{"key":"e_1_3_2_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.6.399"},{"key":"e_1_3_2_16_1","first-page":"21","article-title":"Mutation analysis of the MSX1 gene exons and intron in patients with nonsyndromic cleft lip and palate","volume":"8","author":"Lace B","year":"2006","unstructured":"Lace B, , Vasiljeva I, , Dundure I, et al. (2006) Mutation analysis of the MSX1 gene exons and intron in patients with nonsyndromic cleft lip and palate. Stomatologija, 8:21-24.","journal-title":"Stomatologija"},{"key":"e_1_3_2_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0722.2011.00824.x"},{"key":"e_1_3_2_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2002-3-3-reviews0004"},{"key":"e_1_3_2_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910608500612"},{"key":"e_1_3_2_20_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610402.x"},{"key":"e_1_3_2_21_1","doi-asserted-by":"publisher","DOI":"10.1597\/06-097.1"},{"key":"e_1_3_2_22_1","doi-asserted-by":"publisher","DOI":"10.1620\/tjem.217.307"},{"key":"e_1_3_2_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0494-348"},{"key":"e_1_3_2_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-263X.2011.01184.x"},{"key":"e_1_3_2_25_1","first-page":"5","article-title":"Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults","volume":"22","author":"Stoll C","year":"2015","unstructured":"Stoll C, , Mengsteab S, , Stoll D, et al. (2015) Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults. BMC Med Genet, 22:5-15.","journal-title":"BMC Med Genet"},{"key":"e_1_3_2_26_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e31822e5e4d"},{"key":"e_1_3_2_27_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000127275.52925.05"},{"key":"e_1_3_2_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0006-4"},{"key":"e_1_3_2_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcms.2005.04.004"},{"key":"e_1_3_2_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/74155"},{"key":"e_1_3_2_31_1","first-page":"216","article-title":"Incidence of cleft lip, cleft palate, and cleft lip and palate among races: a review","volume":"24","author":"Vanderas AP","year":"1987","unstructured":"Vanderas AP (1987) Incidence of cleft lip, cleft palate, and cleft lip and palate among races: a review. 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