Genetic backgrounds and modifier genes of NTD mouse models: An opportunity for greater understanding of the multifactorial etiology of neural tube defects

RYM Leduc, P Singh, HE McDermid - Birth Defects Research, 2017 - Wiley Online Library
… While modifier genes are defined in various ways throughout the literature, the overall … , a
modifier can be described as a gene that affects the phenotype produced by another gene. In …

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… - … genetics, 1994 - nature.com
… Allelic differences in various genetic backgrounds affect the expression of NTD phenotypes,
… as yet unidentified polymorphic modifier genes. The modifier genes that we have implicated …

Neural tube defects

NDE Greene, AJ Copp - Annual review of neuroscience, 2014 - annualreviews.org
… variant as causative is complicated by the apparent multigenic nature of NTDs and by the
large number of possible candidate genes, modifier genes, epigenetic factors, and …

Neural tube defects—disorders of neurulation and related embryonic processes

AJ Copp, NDE Greene - Wiley Interdisciplinary Reviews …, 2013 - Wiley Online Library
… evidence of significant modifier gene function during neurulation. … by one or more modifier
genes on chromosome 19. These … Strain differences have also been described for non-genetic

[PDF][PDF] Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers

MC Lemos, B Harding, AAC Reed… - Journal of …, 2009 - scholar.archive.org
… phenotype modification is the influence of genetic background due to modifier genes (Nadeau
2003a). The effects of such modifier genes and genetic background are difficult to study in …

Neural tube defect genes and maternal diabetes during pregnancy

JM Salbaum, C Kappen - Birth Defects Research Part A …, 2010 - Wiley Online Library
… birth defects, such as neural tube defects (NTDs). We have previously shown that maternal
diabetes profoundly affects gene … and (2) genes that can act as modifiers of NTD phenotypes …

Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects

MM Lakkis, JA Golden, KS O'Shea, JA Epstein - Developmental biology, 1999 - Elsevier
… The identification of specific genetic interactions affecting neural tube closure will facilitate …
spina bifida and other neural tube defects. Here, we report a genetic interaction between Nf1, …

Genetic modifiers in human development and malformation syndromes, including chaperone proteins

A Slavotinek, LG Biesecker - Human Molecular Genetics, 2003 - academic.oup.com
… This review examines some of the evidence for the importance of modifier genes in … interstitial
deletions of 2q35 and the PAX3 gene: possible digenic inheritance of a neural tube defect. …

Genetics of human neural tube defects

NDE Greene, P Stanier, AJ Copp - Human molecular genetics, 2009 - academic.oup.com
… -driven testing of candidates genes in groups of NTDs with specific defects of folate metabolism,
… Neural tube defects (NTDs) are a common group of central nervous system anomalies …

Genetic basis of neural tube defects

AJ Copp, P Stanier, NDE Greene - Textbook of pediatric neurosurgery, 2020 - Springer
… Occipital encephalocele by contrast is often a single gene disorder and is now considered
a “ciliopathy,” resulting from defects in genes required for primary cilium function. The genetic