• We demonstrated that maternal hyperglycemia correlated with activation of the apoptosis signal-regulating kinase 1 (ASK1) in the developing neural tube, and Ask1 gene deletion was associated with reduced neuroepithelial cell apoptosis and development of neural tube defects. (sciencemag.org)
  • Hyperglycemia-induced apoptosis and the development of neural tube defects were reduced with genetic ablation of either FoxO3a or Casp8 or inhibition of ASK1 by thioredoxin. (sciencemag.org)
  • Thus, activation of an ASK1-FoxO3a-TRADD-caspase 8 pathway participates in the development of neural tube defects, which could be prevented by inhibiting intermediates in this cascade. (sciencemag.org)
  • These data indicate rare damaging variants of the CELSR genes, identified in ~ 14% of NTD cases, are expected to be driver genes in the Wnt/PCP pathway. (springer.com)
  • Compound damaging variants of CELSR genes and other Wnt/PCP genes, which were observed in 3.3% of the studied NTD cohort, are also expected to amplify these effects at the pathway level. (springer.com)
  • We extracted methylation information of PAX3 in neural tissues from array data of ten NTD cases and eight non-malformed controls. (biomedcentral.com)
  • Finally, we examined methylation patterns and expression of Pax3 in neural tissues from mouse embryos of dams exposed to BaP or BaP and vitamin E. (biomedcentral.com)
  • And mean methylation intensity in the body region of PAX3 in fetal neural tissues was positively correlated with median concentrations of PAH in maternal serum. (biomedcentral.com)
  • In vertebrates, PCP genes are required for convergent extension, a process in which cells within an epithelial sheet rearrange in a coordinated manner to produce a narrowing of the tissue along one axis and an extension along the orthogonal axis. (biologists.org)
  • Ultimately, one might be able to screen for susceptibility by looking at these genes. (berkeley.edu)
  • In these families, we observed that neural tube defects and birth defects overall occurred at a higher rate in the maternal lineage compared with the paternal lineage. (frontiersin.org)
  • Maternal genetic markers for risk of celiac disease and their potential association with neural tube defects in offspring. (nih.gov)
  • Excess apoptosis is observed in the neuroepithelium of rodent embryos exposed to maternal diabetes, and deletion of proapoptotic kinase genes reduces NTD incidence in these embryos ( 9 , 11 , 12 , 21 ). (diabetesjournals.org)
  • Cordon-bleu protein-like 1 is a protein that in humans is encoded by the COBLL1 gene. (wikipedia.org)
  • ALX homeobox protein 1 is a protein that in humans is encoded by the ALX1 gene. (wikipedia.org)
  • Reporting in the December 16 issue of Current Biology, researchers at the University of California, Berkeley, and the University of Pittsburgh, establish that activation of a lone gene, called "shroom," triggers specific cells in the embryo to bend, initiating a curling of tissue into a closed neural tube that eventually becomes the spinal cord and brain. (berkeley.edu)
  • These experiments show that, in the embryo, a single protein can bring about this cell shape change, which is staggering, because it implies that this entire bending event can be controlled essentially by controlling a single gene," said co-author John Wallingford, a former UC Berkeley postdoctoral fellow now an assistant professor in the Department of Molecular, Cell and Developmental Biology at the University of Texas at Austin. (berkeley.edu)
  • The gene Wallingford, Harland and UC Berkeley undergraduate student Saori L. Haigo decided to look at was shroom, short for mushroom, which is the shape of a cross section through a mouse brain that lacks the gene and has an everted rather than normally rolled neural tube. (berkeley.edu)
  • Using pyrosequencing, we developed methylation assays for the CpG islands (CGIs) and the CGI shore regions of the folate receptor a (FOLR1), proton-coupled folate transporter (PCFT) and reduced folate carrier 1 (RFC1) genes. (diva-portal.org)
  • A polymorphism exerts a gene-nutrition interaction on DNA methylation in the RFC1 gene, and that this interaction appears to be most prominent in NTD-affected births and in subjects with high tHcy concentrations. (diva-portal.org)
  • The main goals of this thesis were to analyze whether the genes responsible for the folate transport (FOLR1, PCFT, and RFC1) could be regulated by DNA methylation in placenta, blood leukocytes and colorectal cancer. (diva-portal.org)
  • Alternative exon usage has been observed to affect most multiexon genes in mammals ( 1 ⇓ - 3 ). (pnas.org)