Genetic Analysis of Disheveled 2 and Disheveled 3 in Human Neural Tube Defects
نویسندگان
چکیده
منابع مشابه
Membrane Bound GSK-3 Activates Wnt Signaling through Disheveled and Arrow
Wnt ligands and their downstream pathway components coordinate many developmental and cellular processes. In adults, they regulate tissue homeostasis through regulation of stem cells. Mechanistically, signal transduction through this pathway is complicated by pathway components having both positive and negative roles in signal propagation. Here we examine the positive role of GSK-3/Zw3 in promo...
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BACKGROUND Investigations of naturally-occurring mutations in animal models provide important insights and valuable disease models. Lamins A and C, along with lamin B, are type V intermediate filament proteins which constitute the proteinaceous boundary of the nucleus. LMNA mutations in humans cause a wide range of phenotypes, collectively termed laminopathies. To identify the mutation and inve...
متن کاملGenetics of human neural tube defects
Neural tube defects (NTDs) are common, severe congenital malformations whose causation involves multiple genes and environmental factors. Although more than 200 genes are known to cause NTDs in mice, there has been rather limited progress in delineating the molecular basis underlying most human NTDs. Numerous genetic studies have been carried out to investigate candidate genes in cohorts of pat...
متن کاملMetabolic Analysis of Neural Tube Defects
Neural tube defects (NTDs), such as exencephaly and spina bifida, occur when the neural tube fails to close properly during embryonic development. Folic acid supplementation has been shown to effectively reduce the occurrence of NTDs and low folate is a known risk factor for human NTDs. However despite extensive research, the mechanism explaining how the folate status affects the incidence of N...
متن کاملGenetic, chromosomal, and syndromic causes of neural tube defects
OBJECTIVE To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. METHODS We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital,...
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ژورنال
عنوان ژورنال: Journal of Molecular Neuroscience
سال: 2012
ISSN: 0895-8696,1559-1166
DOI: 10.1007/s12031-012-9871-9