Candidate gene analysis in human neural tube defects

AL Boyles, P Hammock… - American Journal of …, 2005 - Wiley Online Library
Biochemical and developmental pathways, mouse models, and positional evidence have
provided numerous candidate genes for the study of human neural tube defects. In a survey …

The embryonic development of mammalian neural tube defects

AJ Copp, FA Brook, JP Estibeiro, ASW Shum… - Progress in …, 1990 - Elsevier
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Neural tube defects: heterogeneity and homogeneity

MJ Seller, DK Kalousek, JM Opitz… - American Journal of …, 1986 - Wiley Online Library
Detailed investigations were made on 150 fetuses with neural tube defects (NTD). After
eliminating those with recognised causes, the rest were found to consist of fetuses with both …

Multifactorial inheritance of neural tube defects: localization of the major gene and recognition of modifiers in ct mutant mice

PE Neumann, WN Frankel, VA Letts, JM Coffin… - Nature …, 1994 - nature.com
Neural tube defects (NTD) in humans have been considered to have a multifactorial
aetiology, however the participating genes have not been identified. The curly–tail (ct) …

Neural tube closure and neural tube defects: studies in animal models reveal known knowns and known unknowns

JB Wallingford - American Journal of Medical Genetics Part C …, 2005 - Wiley Online Library
The vertebrate central nervous system is a hollow structure that develops first as a flat sheet
of cells and subsequently rolls into a tube during embryogenesis. Failure of this rolling …

[HTML][HTML] Update on the role of the non-canonical Wnt/planar cell polarity pathway in neural tube defects

M Wang, P de Marco, V Capra, Z Kibar - Cells, 2019 - mdpi.com
Neural tube defects (NTDs), including spina bifida and anencephaly, represent the most
severe and common malformations of the central nervous system affecting 0.7–3 per 1000 …

Genetic, epigenetic, and environmental contributions to neural tube closure

JJ Wilde, JR Petersen, L Niswander - Annual review of genetics, 2014 - annualreviews.org
The formation of the embryonic brain and spinal cord begins as the neural plate bends to
form the neural folds, which meet and adhere to close the neural tube. The neural ectoderm …

Genetic basis of neural tube defects: the mouse gene loop-tail maps to a region of Chromosome 1 syntenic with human 1q21–q23

P Stanier, JN Henson, J Eddleston, GE Moore… - Genomics, 1995 - Elsevier
A genetic basis for neural tube defects (NTD) is rarely doubted, but the genes involved have
not yet been identified. This is partly due to a lack of suitable families on which to perform …

Crooked tail (Cd) models human folate-responsive neural tube defects

M Carter, S Ulrich, Y Oofuji, DA Williams… - Human molecular …, 1999 - academic.oup.com
Genetic correlation of human neural tube defects (NTDs) with NTD genes identified in
mouse may unravel predisposing complex traits for assessment of individual risk and …

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders

M Beaumont, L Akloul, W Carré, C Quélin, H Journel… - Human genetics, 2019 - Springer
Neural tube defect disorders are developmental diseases that originate from an incomplete
closure of the neural tube during embryogenesis. Despite high prevalence—1 out of 3000 …