16941185

Source:http://linkedlifedata.com/resource/pubmed/id/16941185

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015127, umls-concept:C0027794, umls-concept:C0314603, umls-concept:C0521116, umls-concept:C1314792
pubmed:issue	4
pubmed:dateCreated	2006-10-18
pubmed:abstractText	Neural tube defects (NTDs) are a group of severe congenital abnormalities resulting from the failure of neurulation. The pattern of inheritance of these complex defects is multifactorial, making it difficult to identify the underlying causes. Scientific research has rapidly progressed in experimental embryology and molecular genetics to elucidate the basis of neurulation. Crucial mechanisms of neurulation include the planar cell polarity pathway, which is essential for the initiation of neural tube closure, and the sonic hedgehog signaling pathway, which regulates neural plate bending. Genes influencing neurulation have been investigated for their contribution to human neural tube defects, but only genes with well-established role in convergent extension provide an exciting new set of candidate genes. Biochemical factors such as folic acid appear to be the greatest modifiers of NTDs risk in the human population. Consequently, much research has focused on genes of folate-related metabolic pathways. Variants of several such genes have been found to be significantly associated with the risk of neural tube defects in more studies. In this manuscript, we reviewed the current perspectives on the causes of neural tube defects and highlighted that we are still a long way from understanding the etiology of these complex defects.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9709714
pubmed:citationSubset	IM
pubmed:status	MEDLINE
pubmed:month	Nov
pubmed:issn	1364-6745
pubmed:author	pubmed-author:CapraValeriaV, pubmed-author:De MarcoPatriziaP, pubmed-author:MascelliSamanthaS, pubmed-author:MerelloElisaE
pubmed:issnType	Print
pubmed:volume	7
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	201-21
pubmed:meshHeading	pubmed-meshheading:16941185-Animals, pubmed-meshheading:16941185-Brain, pubmed-meshheading:16941185-Humans, pubmed-meshheading:16941185-Neural Tube Defects, pubmed-meshheading:16941185-Risk Factors
pubmed:year	2006
pubmed:articleTitle	Current perspectives on the genetic causes of neural tube defects.
pubmed:affiliation	U.O. Neurochirurgia, Istituto G. Gaslini, Largo G. Gaslini 5, 16148, Genova, Italy.
pubmed:publicationType	Journal Article, Review, Research Support, Non-U.S. Gov't