{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:24:14Z","timestamp":1777523054882,"version":"3.51.4"},"reference-count":42,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2018,5,8]],"date-time":"2018-05-08T00:00:00Z","timestamp":1525737600000},"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":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>\n                      To evaluate the association of transforming growth factor \u03b23 (\n                      <jats:italic>TGF\u03b23<\/jats:italic>\n                      ), muscle segment homeobox 1 (\n                      <jats:italic>MSX1<\/jats:italic>\n                      ), Metalloproteinases 3 (\n                      <jats:italic>MMP3<\/jats:italic>\n                      ), and\n                      <jats:italic>MMP9<\/jats:italic>\n                      genes as candidates for nonsyndromic cleft lip and\/or palate in an Indian population.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design:<\/jats:title>\n                    <jats:p>Case\u2013control association study, mutational screening, and functional evaluation of obtained mutations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Setting:<\/jats:title>\n                    <jats:p>\n                      Mutational screening of the developmental genes,\n                      <jats:italic>TGF\u03b23<\/jats:italic>\n                      and\n                      <jats:italic>MSX1<\/jats:italic>\n                      , along with functional evaluation and association of promoter region SNPs\u2014one each in\n                      <jats:italic>MMP3<\/jats:italic>\n                      and\n                      <jats:italic>MMP9<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients, Participants:<\/jats:title>\n                    <jats:p>Two hundred forty five NSCL\u00b1P cases from G. S. Memorial Plastic Surgery Hospital and Trauma Center, Varanasi and 201 healthy controls without a family history of congenital malformations from nearby schools, primary health centers, and the university hospital.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main Outcome Measure(s):<\/jats:title>\n                    <jats:p>Sequencing, SSCP, and PCR-RFLP were used for candidate gene screening. MatInspector and electrophoretic mobility shift assay (EMSA) were used to check the differential transcription factor binding of the variants at promoter region. Luciferase assay was used to test the transcriptional potential of the variant, and evaluation of the alternative splice site was carried out using exon-trapping experiment.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Metalloproteinases3 \u22121171 5A\/6A was associated with NSCL\u00b1P, whereas\n                      <jats:italic>MMP9<\/jats:italic>\n                      \u22121562 C\/T did not show association. A rare variant in the promoter region of TGF\u03b23 (rs117462711) creates a differential binding site, confirmed by EMSA. Luciferase assay showed 3.7-fold increased expression level in mutant construct. A synonymous change in\n                      <jats:italic>MSX1<\/jats:italic>\n                      (rs34165410) showed association with NSCL\u00b1P, which may create an alternative splice site or lead to low codon usage. Exon-trapping experiment failed to confirm alternative splicing, indicating low codon usage frequency of the mutant affecting the gene function.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      <jats:italic>TGF\u03b23<\/jats:italic>\n                      ,\n                      <jats:italic>MSX1<\/jats:italic>\n                      , and\n                      <jats:italic>MMP3<\/jats:italic>\n                      are candidates for NSCL\u00b1P.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/1055665618775727","type":"journal-article","created":{"date-parts":[[2018,5,8]],"date-time":"2018-05-08T16:37:44Z","timestamp":1525797464000},"page":"363-372","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":8,"title":["TGF\u03b23, MSX1, and MMP3 as Candidates for NSCL\u00b1P in an Indian Population"],"prefix":"10.1177","volume":"56","author":[{"given":"Priyanka","family":"Kumari","sequence":"first","affiliation":[{"name":"Cytogenetics Laboratory, Department of Zoology, Banaras Hindu University, Varanasi, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Subodh Kumar","family":"Singh","sequence":"additional","affiliation":[{"name":"G. S. Memorial Plastic Surgery Hospital and Trauma Center, Varanasi, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajiva","family":"Raman","sequence":"additional","affiliation":[{"name":"Cytogenetics Laboratory, Department of Zoology, Banaras Hindu University, Varanasi, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2018,5,8]]},"reference":[{"key":"e_1_3_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2007.06.018"},{"key":"e_1_3_4_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.580"},{"key":"e_1_3_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1047-2797(01)00222-8"},{"issue":"3","key":"e_1_3_4_5_1","first-page":"451","article-title":"The distribution of epidermal growth factor binding sites in the developing mouse palate","volume":"37","author":"Brunet CL","year":"1993","unstructured":"Brunet CL, Sharpe PM, Ferguson MW. 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