Neural tube defect

MicroRNAs function primarily in the pathogenesis of human anencephaly via the mitogen-activated protein kinase signaling pathway

W. D. Zhang, Yu, X., Fu, X., Huang, S., Jin, S. J., Ning, Q., and Luo, X. P., MicroRNAs function primarily in the pathogenesis of human anencephaly via the mitogen-activated protein kinase signaling pathway, vol. 13, pp. 1015-1029, 2014.

Anencephaly is one of the most serious forms of neural tube defects (NTDs), a group of congenital central nervous system (CNS) malformations. MicroRNAs (miRNAs) are involved in diverse biological processes via the post-transcriptional regulation of target mRNAs. Although miRNAs play important roles in the development of mammalian CNS, their function in human NTDs remains unknown.

Registries of cases with neural tube defects in Denizli, Turkey, 2004-2010

A. G. Tomatir, B. Vural, K., Acikbas, I., and Akdag, B., Registries of cases with neural tube defects in Denizli, Turkey, 2004-2010, vol. 13, pp. 8537-8543, 2014.

Neural tube defects (NTD) are among the most common congenital abnormalities, with an incidence of 3 per 1000 live births in Turkey. In a study of major congenital abnormalities in the city of Denizli, Turkey, abnormalities of the central nervous system are particularly common (31.1%). The objective of this study was to develop a registry of cases with NTDs in Denizli. Cases that had been diagnosed with NTD between January 2004 and September 2010 in State Hospitals of Central Denizli were retrospectively examined. The diagnoses were established based on the ICD-10 criteria.

Loop-tail phenotype in heterozygous mice and neural tube defects in homozygous mice result from a nonsense mutation in the Vangl2 gene

B. Chen, Mao, H. H., Chen, L., Zhang, F. L., Li, K., and Xue, Z. F., Loop-tail phenotype in heterozygous mice and neural tube defects in homozygous mice result from a nonsense mutation in the Vangl2 gene, vol. 12, pp. 3157-3165, 2013.

N-ethyl-N-nitrosourea (ENU) is a powerful point mutagen that can generate random mutations. It has been used to generate mouse mutations to produce phenotypic models of human disease. Neural tube defects (NTD) are common birth defects in which the brain and/or spinal cord can be exposed; however, the mechanisms of these defects are poorly understood. Craniorachischisis is one type of NTD that bears a close resemblance to the phenotype of the loop-tail (Lp) mouse. Here we describe a C57BL/6J Lp mouse generated by ENU-induced mutagenesis.

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