JUSTIFICATION Neural tube defects (NTDs) are one of the commonest birth defects with a high incidence in India. However, few studies have systematically looked into the etio-pathogeneis of NTDs, which mainly includes nutritional deficiencies and genetic predisposition. Efforts are afoot for universal food fortification with folic acid in the hope of preventing NTDs, without factual evidence of ...

Cranial neural tube defects (NTDs) occur in mice carrying mutant alleles of many different genes, whereas isolated spinal NTDs (spina bifida) occur in fewer models, despite being common human birth defects. Spina bifida occurs at high frequency in the Axial defects (Axd) mouse mutant but the causative gene is not known. In the current study, the Axd mutation was mapped by linkage analysis. With...

Birth defects (congenital anomalies) are the leading cause of death in babies under 1 year of age. Neural tube defects (NTD), with a birth incidence of approximately 1/1000 in American Caucasians, are the second most common type of birth defect after congenital heart defects. The most common presentations of NTD are spina bifida and anencephaly. The etiologies of NTDs are complex, with both gen...

Folate supplementation prevents up to 70% of human neural tube defects (NTDs), although the precise cellular and metabolic sites of action remain undefined. One possibility is that folate modulates the function of metabolic enzymes expressed in cellular populations involved in neural tube closure. Here we show that the folate metabolic enzyme ALDH1L1 is cell-specifically expressed in PAX3-negat...

The precise etiology of neural tube defects (NTDs) is not known. There is some evidence that mutations in MTHFR gene provide susceptibility to NTDs in some populations; however, other studies have not found this association. One of the problems with previous studies is that they treat NTDs as a homogeneous group, when specific defects could have different etiologies. We conducted a case-control...

Neural tube defects (NTDs), such as spina bifida and anencephaly, are severe birth defects which result from failure of closure of the neural tube (the precursor of the brain and the spinal cord). In humans, NTDs affect 1 per 1000 pregnancies, with multifactorial aetiology suggestive of a combination of one or more genetic factors with contribution from environmental risk factors. The curly tai...

Aim The etiology behind abnormal development of the neural tube during embryonic life is not well understood. The evidence for associations of environmental cause and genes remains controversial. However recent analysis suggests excessive corresponding risks at environmental exposure levels and involvement of genes. Methods We analyzed the research on developmental defects of neural tube and de...

BACKGROUND In resource-limited nations like Nepal, congenital defects, including neural tube defects (NTDs), have great public health impact. NTDs and a few other congenital defects can be prevented by micronutrient supplementation. Without proper research regarding such defects, it is difficult to assess the damage made to health and productivity. This study aims to investigate different conge...

Danforth's short tail (Sd) mutant mice exhibit defects of the neural tube and other abnormalities, which are similar to the human vertebral anomalies, anal atresia, cardiac defects, tracheosophageal fistula and/or esophageal atresia, renal and radial abnormalities, and limb defects (VATER/VACTERL) association, including defects of the hindgut. Sd has been shown to underlie ectopic gene expressi...

Neural tube defects (NTDs), such as spina bifida and anencephaly, are severe birth defects which result from failure of closure of the neural tube (the precursor of the brain and the spinal cord). In humans, NTDs affect 1 per 1000 pregnancies, with multifactorial aetiology suggestive of a combination of one or more genetic factors with contribution from environmental risk factors. The curly tai...