[HTML][HTML] Insights into the etiology of mammalian neural tube closure defects from developmental, genetic and evolutionary studies
DM Juriloff, MJ Harris - Journal of developmental biology, 2018 - mdpi.com
The human neural tube defects (NTD), anencephaly, spina bifida and craniorachischisis,
originate from a failure of the embryonic neural tube to close. Human NTD are relatively …
originate from a failure of the embryonic neural tube to close. Human NTD are relatively …
[HTML][HTML] Overview of neural tube defects: gene–environment interactions, preventative approaches and future perspectives
Neural tube defects (NTDs) are the second most common congenital malformations of
humans, characterized by impaired development of the central nervous system. Even …
humans, characterized by impaired development of the central nervous system. Even …
[HTML][HTML] Novel genomic variants, atypical phenotypes and evidence of a digenic/oligogenic contribution to disorders/differences of sex development in a large North …
H Zidoune, A Ladjouze, D Chellat-Rezgoune… - Frontiers in …, 2022 - frontiersin.org
In a majority of individuals with disorders/differences of sex development (DSD) a genetic
etiology is often elusive. However, new genes causing DSD are routinely reported and using …
etiology is often elusive. However, new genes causing DSD are routinely reported and using …
Systems biology analysis of human genomes points to key pathways conferring spina bifida risk
V Aguiar-Pulido, P Wolujewicz… - Proceedings of the …, 2021 - National Acad Sciences
Spina bifida (SB) is a debilitating birth defect caused by multiple gene and environment
interactions. Though SB shows non-Mendelian inheritance, genetic factors contribute to an …
interactions. Though SB shows non-Mendelian inheritance, genetic factors contribute to an …
[HTML][HTML] The etiopathogenic and morphological spectrum of anencephaly: a comprehensive review of literature
O Munteanu, MM Cîrstoiu, FM Filipoiu… - Romanian Journal of …, 2020 - ncbi.nlm.nih.gov
Anencephaly is a severe malformation of the central nervous system (CNS), being one of the
most common types of neural tube defects. It is defined as total or partial absence of the …
most common types of neural tube defects. It is defined as total or partial absence of the …
[HTML][HTML] Impaired folate 1-carbon metabolism causes formate-preventable hydrocephalus in glycine decarboxylase–deficient mice
C Santos, YJ Pai, MR Mahmood… - The Journal of …, 2020 - Am Soc Clin Investig
Ventriculomegaly and hydrocephalus are associated with loss of function of glycine
decarboxylase (Gldc) in mice and in humans suffering from non-ketotic hyperglycinemia …
decarboxylase (Gldc) in mice and in humans suffering from non-ketotic hyperglycinemia …
Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice
SCP De Castro, P Gustavsson… - Human molecular …, 2018 - academic.oup.com
The genetic basis of human neural tube defects (NTDs), such as anencephaly and spina
bifida (SB), is complex and heterogeneous. Grainyhead-like genes represent candidates for …
bifida (SB), is complex and heterogeneous. Grainyhead-like genes represent candidates for …
[HTML][HTML] Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration
Myelomeningocele (MMC) affects one in 1000 newborns annually worldwide and each
surviving child faces tremendous lifetime medical and caregiving burdens. Both genetic and …
surviving child faces tremendous lifetime medical and caregiving burdens. Both genetic 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 …
closure of the neural tube during embryogenesis. Despite high prevalence—1 out of 3000 …
Mouse models of neural tube defects
IE Zohn - Animal Models of Human Birth Defects, 2020 - Springer
During embryonic development, the central nervous system forms as the neural plate and
then rolls into a tube in a complex morphogenetic process known as neurulation. Neural …
then rolls into a tube in a complex morphogenetic process known as neurulation. Neural …