NDLI: Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations

Please wait, while we are loading the content...

Dynamic Contrast-Enhanced MR Imaging in a Phase Ⅱ Study on Neoadjuvant Chemotherapy Combining Rh-Endostatin with Docetaxel and Epirubicin for Locally Advanced Breast Cancer

Comparison of the Cobas 4800 HPV Test and the Seeplex HPV4A ACE with the Hybrid Capture 2 Test

Proprotein Convertase Subtilisin/Kexin Type 9 Gene E670G Polymorphism Interacts with Alcohol Consumption to Modulate Serum Lipid Levels

Reduced Expression of TFF1 and Increased Expression of TFF3 in Gastric Cancer: Correlation with Clinicopathological Parameters and Prognosis

Creatine Metabolism and Safety Profiles after Six-Week Oral Guanidinoacetic Acid Administration in Healthy Humans

Stroke Volume Variation for Prediction of Fluid Responsiveness in Patients Undergoing Gastrointestinal Surgery

Up-regulation and Pre-activation of TRAF3 and TRAF5 in Inflammatory Bowel Disease

Association between HLA-B*46 Allele and Graves Disease in Asian Populations: A Meta-Analysis

Biodegradable Conduit Small Gap Tubulization for Peripheral Nerve Mutilation: A Substitute for Traditional Epineurial Neurorrhaphy

Inflammation and Oxidative Stress are Associated with the Prevalence of High Aankle-brachial Index in Metabolic Syndrome Patients without Chronic Renal Failure

Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations

Statins Therapy Can Reduce the Risk of Atrial Fibrillation in Patients with Acute Coronary Syndrome: A Meta-Analysis

Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations

Content Provider	Ivyspring International Publisher
Author	Zhang, Tao Tang, Xiao Bing Wang, Li Li Bai, Yu Zuo Qiu, Guang Rong Yuan, Zheng Wei Wang, Wei Lin
Editor	Taub, Daniel Dennis
Abstract	Background: 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.Methods: 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.Results: 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.Conclusion: 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.
Related Links	https://www.medsci.org/v10p0191.pdf
Ending Page	197
Starting Page	191
File Format	PDF
ISSN	14491907
DOI	10.7150/ijms.4929
Journal	International Journal of Medical Science
PubMed reference number	23329892
Issue Number	2
PubMed Central reference number	PMC3547218
Volume Number	10
Language	English
Publisher	Ivyspring International Publisher
Publisher Date	2013-01-09
Access Restriction	Open
Subject Keyword	Anorectal malformations CDX1 Mutation Children Research Paper
Content Type	Text
Resource Type	Article
Subject	Biochemistry, Genetics and Molecular Biology Medicine
Journal Impact Factor	3.2

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations

Wound Dehiscence after Posterior Sagittal Anorectoplasty in Children with Anorectal Malformations

Abnormal expression of TBX4 during anorectal development in rat embryos with ethylenethiourea-induced anorectal malformations

Down-Regulation of SHH/BMP4 Signalling in Human Anorectal Malformations

Endothelial TIE2 Mutation Induced Contraction Deficiency of Vascular Smooth Muscle Cells via Phenotypic Transition Regulation in Venous Malformations

Late Diagnosis of Anorectal Malformations in Children

Treatment of Children with Anorectal Malformations—10-Year Review

Investigation of Somatic NKX2-5 Mutations in Chinese Children with Congenital Heart Disease

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations

Similar Documents

Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations

Wound Dehiscence after Posterior Sagittal Anorectoplasty in Children with Anorectal Malformations

Abnormal expression of TBX4 during anorectal development in rat embryos with ethylenethiourea-induced anorectal malformations

Down-Regulation of SHH/BMP4 Signalling in Human Anorectal Malformations

Endothelial TIE2 Mutation Induced Contraction Deficiency of Vascular Smooth Muscle Cells via Phenotypic Transition Regulation in Venous Malformations

Late Diagnosis of Anorectal Malformations in Children

Treatment of Children with Anorectal Malformations—10-Year Review

Investigation of Somatic NKX2-5 Mutations in Chinese Children with Congenital Heart Disease

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations