Pathogenesis and genetics of neural tube defects

M Witczak, T Ferenc, J Wilczyński - Ginekologia Polska, 2007 - europepmc.org
After congenital heart defects neural tube defects (NTDs) is the second most prevalent
congenital malformation among birth defects. The average rate of isolated NTDs is 1.4-2.0 …

Apparent lability of neural tube closure in laboratory animals and humans

JM DeSesso, AR Scialli… - American journal of …, 1999 - Wiley Online Library
Neural tube defects (NTDs), a set of structural abnormalities affecting the brain, spinal cord,
and the skeletal and connective tissues that protect them, are common malformations …

An update to the list of mouse mutants with neural tube closure defects and advances toward a complete genetic perspective of neural tube closure

MJ Harris, DM Juriloff - Birth Defects Research Part A: Clinical …, 2010 - Wiley Online Library
The number of mouse mutants and strains with neural tube defects (NTDs) now exceeds
240, including 205 representing specific genes, 30 for unidentified genes, and 9 …

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 …

The emerging role of epigenetic mechanisms in the etiology of neural tube defects

NDE Greene, P Stanier, GE Moore - Epigenetics, 2011 - Taylor & Francis
The molecular requirements for neural tube closure are complex. This is illustrated by the
occurrence of neural tube defects (NTDs) in many genetic mouse mutants, which implicate a …

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 …

Identification of new candidate genes for spina bifida through exome sequencing

A Azzarà, C Rendeli, AM Crivello, F Brugnoletti… - Child's Nervous …, 2021 - Springer
Purpose Neural tube defects are a group of birth defects caused by failure of neural tube
closure during development. The etiology of NTD, requiring a complex interaction between …

Epidemiology of neural tube defects

LE Mitchell - American Journal of Medical Genetics Part C …, 2005 - Wiley Online Library
The epidemiological investigation of the common open neural tube defects (NTDs),
anencephaly, and spina bifida, has a long history. The most significant finding from these …

Etiology, pathogenesis and prevention of neural tube defects

R Padmanabhan - Congenital anomalies, 2006 - Wiley Online Library
Spina bifida, anencephaly, and encephalocele are commonly grouped together and termed
neural tube defects (NTD). Failure of closure of the neural tube during development results …

The continuing challenge of understanding, preventing, and treating neural tube defects

JB Wallingford, LA Niswander, GM Shaw, RH Finnell - Science, 2013 - science.org
Background Neural tube defects (NTDs) are debilitating birth defects involving the central
nervous system (CNS). Despite recent advances, NTDs represent the second most common …