Approaches to studying the genomic architecture of complex birth defects

TE Taiwo, X Cao, RM Cabrera, Y Lei… - Prenatal …, 2020 - Wiley Online Library
Every year nearly 6 percent of children worldwide are born with a serious congenital
malformation, resulting in death or lifelong disability. In the United States, birth defects …

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 …

Gene–environment interactions underlying the etiology of neural tube defects

CD Caiaffa, CSR Fonteles, L Yunping… - Current Topics in …, 2023 - Elsevier
Neural tube defects (NTDs) consist of severe structural malformations of the brain and spinal
cord and are the second most common structural birth defect in humans, accounting for …

Exploring epigenomic mechanisms of neural tube defects using multi‐omics methods and data

W Huang, Z Yuan, H Gu - Annals of the New York Academy of …, 2022 - Wiley Online Library
Neural tube defects (NTDs) are a heterogeneous set of malformations attributed to
disruption in normal neural tube closure during early embryogenesis. An in‐depth …

Gene expression profiling within the developing neural tube

RH Finnell, WM Junker, LK Wadman… - Neurochemical …, 2002 - Springer
The developing mammalian nervous system is subject to devastating congenital
malformations with clinical significance that extends into the billions of health care dollars …

Using genomewide mutagenesis screens to identify the genes required for neural tube closure in the mouse

IE Zohn, KV Anderson… - Birth Defects Research …, 2005 - Wiley Online Library
BACKGROUND Neural tube closure is a critical embryological process that requires the
coordination of many molecular and cellular events. Only recently has the molecular basis of …

Whole exome sequencing identifies novel predisposing genes in neural tube defects

P Lemay, P De Marco, M Traverso… - Molecular genetics & …, 2019 - Wiley Online Library
Background Neural tube defects (NTD) are among the most common defects affecting 1:
1000 births. They are caused by a failure of neural tube closure during development. Their …

Unraveling the complex genetics of neural tube defects: From biological models to human genomics and back

P Wolujewicz, JW Steele, JA Kaltschmidt, RH Finnell… - Genesis, 2021 - Wiley Online Library
Neural tube defects (NTDs) are a classic example of preventable birth defects for which
there is a proven‐effective intervention, folic acid (FA); however, further methods of …

Neural tube defects

C Pyrgaki, HM Brown, E Jaffe, SA Pezoa… - Neurodevelopmental …, 2020 - Elsevier
Neural tube defects (NTDs) are common birth defects resulting from failure of the neural
epithelium (primordium of the brain and spinal cord) to form a tube. In a tightly regulated …

Modeling neural tube defects in the mouse

IE Zohn, AA Sarkar - Current topics in developmental biology, 2008 - Elsevier
Neural tube defects (NTDs) are among the most common structural birth defects observed in
humans. Mouse models provide an excellent experimental system to study the underlying …