Genetics and development of neural tube defects

AJ Copp, NDE Greene - The Journal of Pathology: A Journal of …, 2010 - Wiley Online Library
… Further progress towards eradication of NTDs is likely to require significantly improved
understanding of the factors, genetic and environmental, that predispose to NTDs, the embryonic …

Genetic basis of neural tube defects

AG Bassuk, Z Kibar - Seminars in pediatric neurology, 2009 - Elsevier
genetic factors predisposing to NTDs in human beings. We first present a brief review of the
normal process of neurulation, including the underlying molecular and cellular mechanisms, …

Whole exome sequencing identifies novel predisposing genes in neural tube defects

P Lemay, P De Marco, M Traverso… - Molecular genetics & …, 2019 - Wiley Online Library
tube defects ( NTD ) are among the most common defects affecting 1:1000 births. They are
caused by a failure of neural tube … and severity of the original defect on the embryonic axis. …

Pathobiology and genetics of neural tube defects

RH Finnell, A Gould, O Spiegelstein - Epilepsia, 2003 - Wiley Online Library
… have a genetically determined predisposition for VPA-induced NTDs… the genes that cause
risk of human neural tube defects so … Prevention of the first occurrence of neuraltube defects by …

Genetic studies in neural tube defects

EC Melvin, TM George, G Worley, A Franklin… - Pediatric …, 2000 - karger.com
… Neural tube defects (NTD) are one of the most common birth defects and are caused by
both environmental and genetic factors. The approach to identifying the genes predisposing to …

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

A Narisawa, S Komatsuzaki, A Kikuchi… - Human molecular …, 2012 - academic.oup.com
… were identified in the AMT gene that were absent from controls. … for GCS activity in neural
tube closure, we generated mice … -of-function mutations in GCS genes predispose to NTDs in …

Promoter haplotype combinations of the platelet-derived growth factor α-receptor gene predispose to human neural tube defects

PHLJ Joosten, M Toepoel, E Mariman… - Nature …, 2001 - nature.com
Neural tube defects (NTDs), including anencephaly and spina bifida, are multifactorial diseases
that occur with an incidence of 1 in 300 births in the United Kingdom 1. Mouse models …

Genetics of human neural tube defects

NDE Greene, P Stanier, AJ Copp - Human molecular genetics, 2009 - academic.oup.com
… candidate genes in groups of well-genotyped individuals to detect possible genegene
testing of candidates genes in groups of NTDs with specific defects of folate metabolism, or …

Is disordered folate metabolism the basis for the genetic predisposition to neural tube defects?

JRW Yates, MA Ferguson‐Smith, A Shenkin… - Clinical …, 1987 - Wiley Online Library
… with the number of neural tube defect pregnancies, the levels … to offspring with neural tube
defects and depressed red cell … factor predisposing to the occurrence of neural tube defects

Etiology, pathogenesis and prevention of neural tube defects

R Padmanabhan - Congenital anomalies, 2006 - Wiley Online Library
… and termed neural tube defects (NTD). Failure of closure of the neural tube during
development … Future studies must address issues of gene-gene, gene-nutrient and gene–environment …