Hypomethylation of GRHL3 gene is associated with the occurrence of neural tube defects

T Tian, L Wang, Y Shen, B Zhang, RH Finnell… - Epigenomics, 2018 - Taylor & Francis
GRHL3 methylation and the etiology of neural tube defects (… At last, grhl3 overexpression
and gene depletion experiments … The knockdown and overexpression of grhl3 in zebrafish …

Inositol-and folate-resistant neural tube defects in mice lacking the epithelial-specific factor Grhl-3

SB Ting, T Wilanowski, A Auden, M Hall, AK Voss… - Nature medicine, 2003 - nature.com
… In summary, we have shown that mouse Grhl3 is essential for neural tube closure. The
human ortholog of this gene maps to chromosome 1p, and we have initiated a search for …

Neural tube defects induced by folate deficiency in mutant curly tail (Grhl3) embryos are associated with alteration in folate one‐carbon metabolism but are unlikely …

SCP De Castro, K Leung, D Savery… - Birth Defects …, 2010 - Wiley Online Library
… a determinant of susceptibility to neural tube defects (NTDs), … and embryos, in which Grhl3
expression is reduced, display … congenic controls in which Grhl3 is unaffected. However, …

Grainyhead genes and mammalian neural tube closure

P Gustavsson, AJ Copp… - … Defects Research Part A …, 2008 - Wiley Online Library
… allele of Grhl3. The functional role and downstream mediators of Grhl3 in neural tube closure
are … principally on the mammalian Grhl3 gene, and its particular role in neural tube closure. …

Genetic variants in GRHL3 and risk for neural tube defects: A case–control and case–parent triad/control study

W Yang, Y Xiao, T Tian, L Jin, L Wang… - Birth Defects …, 2019 - Wiley Online Library
… The GRHL3 (grainyhead like transcription factor 3) gene is a mammalian homologue of
the transcription factor GRH, which was first identified in Drosophila as a protein-binding …

[HTML][HTML] Neural tube closure depends on expression of Grainyhead-like 3 in multiple tissues

SCP De Castro, CS Hirst, D Savery, A Rolo… - Developmental …, 2018 - Elsevier
… Failure of neural tube closure leads to neural tube defects (… -like3 (Grhl3) is essential for
spinal neural tube closure, with null … ;Grhl3 +/- x Grhl3 f/- matings) did not indicate a major defect

Loss-of-function de novo mutations play an important role in severe human neural tube defects

P Lemay, MC Guyot, É Tremblay… - Journal of medical …, 2015 - jmg.bmj.com
… DNM in PAX3 and two potentially causative missense DNMs in GRHL3 and PTPRS. … in
SHROOM3 and in PAX3 in trios affected with neural tube defects (NTDs). (A) Protein schematic …

Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice

SCP De Castro, P Gustavsson… - Human molecular …, 2018 - academic.oup.com
… of human neural tube defects (… Grhl3 ct/ct hypomorphic embryos compared with Grhl3 ct/ct;
TgGrhl3/0 embryos that have mildly elevated Grhl3 expression, but a further increase in Grhl3

Rare deleterious variants in GRHL3 are associated with human spina bifida

P Lemay, P De Marco, A Emond… - Human …, 2017 - Wiley Online Library
… Neural tube defects, including spina bifida, are among the most common birth … We first
chose the longest isoform 3 of GRHL3 for this assay. Surprisingly, isoform 3 failed to activate the …

Proteomic and molecular analysis of neural tube defects in the mouse embryo

SC Pena de Castro - 2011 - discovery.ucl.ac.uk
… was to investigate the causes of spinal neural tube defects (NTDs), using the … Grhl3 expression,
the effects of Grhl3 overexpression were also investigated by intercrossing curly tail Grhl3