Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations
<p><b>Background:</b> Anorectal malformations (ARMs) represent a variety of congenital disorders that involve abnormal termination of the anorectum. This study was to reveal relation between CDX1 and human ARMs phenotypes.</p><p><b>Methods: </b>108 Chinese p...
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| Format: | Article |
| Language: | English |
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Ivyspring International Publisher
2013-01-01
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| Series: | International Journal of Medical Sciences |
| Online Access: | http://www.medsci.org/v10p0191.htm |
| _version_ | 1818358680774508544 |
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| author | Tao Zhang, Xiao Bing Tang, Li Li Wang, Yu Zuo Bai, Guang Rong Qiu, Zheng Wei Yuan, Wei Lin Wang |
| author_facet | Tao Zhang, Xiao Bing Tang, Li Li Wang, Yu Zuo Bai, Guang Rong Qiu, Zheng Wei Yuan, Wei Lin Wang |
| author_sort | Tao Zhang, Xiao Bing Tang, Li Li Wang, Yu Zuo Bai, Guang Rong Qiu, Zheng Wei Yuan, Wei Lin Wang |
| collection | DOAJ |
| description | <p><b>Background:</b> Anorectal malformations (ARMs) represent a variety of congenital disorders that involve abnormal termination of the anorectum. This study was to reveal relation between CDX1 and human ARMs phenotypes.</p><p><b>Methods: </b>108 Chinese patients and 120 Chinese controls were included in this study. We analyzed the relation between two by PCR, qRT-PCR, western blot and immunofluorescence.</p><p><b>Results:</b> Four heterozygous mutations in CDX1 gene were identified in ARMs patients (3.7%, 4/108), no found in controls. CDX1 protein expression was significantly decreased in the ARMs compared with the control anorectum. All samples analyzed in ARMs group exhibited down-regulated CDX1 mRNA expression in comparison to matched normal group, demonstrated significant differences statistically.</p><p><b>Conclusion: </b>The findings represented the relation between CDX1 mutations and CDX1 genotype. Furthermore, it was suggested that the downregulation of CDX1 might be related to the development of ARMs.</p> |
| first_indexed | 2024-12-13T20:32:51Z |
| format | Article |
| id | doaj.art-336c51a1a83f44229608d653dc7cbd00 |
| institution | Directory Open Access Journal |
| issn | 1449-1907 |
| language | English |
| last_indexed | 2024-12-13T20:32:51Z |
| publishDate | 2013-01-01 |
| publisher | Ivyspring International Publisher |
| record_format | Article |
| series | International Journal of Medical Sciences |
| spelling | doaj.art-336c51a1a83f44229608d653dc7cbd002022-12-21T23:32:23ZengIvyspring International PublisherInternational Journal of Medical Sciences1449-19072013-01-01102191197Mutations and Down-Regulation of CDX1 in Children with Anorectal MalformationsTao Zhang, Xiao Bing Tang, Li Li Wang, Yu Zuo Bai, Guang Rong Qiu, Zheng Wei Yuan, Wei Lin Wang<p><b>Background:</b> Anorectal malformations (ARMs) represent a variety of congenital disorders that involve abnormal termination of the anorectum. This study was to reveal relation between CDX1 and human ARMs phenotypes.</p><p><b>Methods: </b>108 Chinese patients and 120 Chinese controls were included in this study. We analyzed the relation between two by PCR, qRT-PCR, western blot and immunofluorescence.</p><p><b>Results:</b> Four heterozygous mutations in CDX1 gene were identified in ARMs patients (3.7%, 4/108), no found in controls. CDX1 protein expression was significantly decreased in the ARMs compared with the control anorectum. All samples analyzed in ARMs group exhibited down-regulated CDX1 mRNA expression in comparison to matched normal group, demonstrated significant differences statistically.</p><p><b>Conclusion: </b>The findings represented the relation between CDX1 mutations and CDX1 genotype. Furthermore, it was suggested that the downregulation of CDX1 might be related to the development of ARMs.</p>http://www.medsci.org/v10p0191.htm |
| spellingShingle | Tao Zhang, Xiao Bing Tang, Li Li Wang, Yu Zuo Bai, Guang Rong Qiu, Zheng Wei Yuan, Wei Lin Wang Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations International Journal of Medical Sciences |
| title | Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations |
| title_full | Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations |
| title_fullStr | Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations |
| title_full_unstemmed | Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations |
| title_short | Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations |
| title_sort | mutations and down regulation of cdx1 in children with anorectal malformations |
| url | http://www.medsci.org/v10p0191.htm |
| work_keys_str_mv | AT taozhangxiaobingtangliliwangyuzuobaiguangrongqiuzhengweiyuanweilinwang mutationsanddownregulationofcdx1inchildrenwithanorectalmalformations |