Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.
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How to form and close the brain: insight into the mechanism of cranial neural tube closure in mammalsBiomarkers of Nutrition for Development-Folate ReviewGenetic, epigenetic, and environmental contributions to neural tube closureModeling anterior development in mice: diet as modulator of risk for neural tube defectsSpina bifidaDeletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in miceIs LMNB1 a susceptibility gene for neural tube defects in humans?Neural tube defects: recent advances, unsolved questions, and controversies.Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in miceFolate metabolite profiling of different cell types and embryos suggests variation in folate one-carbon metabolism, including developmental changes in human embryonic brain.Formate supplementation enhances folate-dependent nucleotide biosynthesis and prevents spina bifida in a mouse model of folic acid-resistant neural tube defectsNucleotide precursors prevent folic acid-resistant neural tube defects in the mouse.Neural tube defects, folic acid and methylationSpina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and HumansUse of high-frequency ultrasound to study the prenatal development of cranial neural tube defects and hydrocephalus in Gldc-deficient miceMitochondrial one-carbon metabolism and neural tube defects.Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects.Give it or take it: the flux of one-carbon in cancer cells.One-Carbon Metabolism in Health and Disease.The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.Neonatal hydrocephalus is a result of a block in folate handling and metabolism involving 10-formyltetrahydrofolate dehydrogenase.Genetic association of the glycine cleavage system genes and myelomeningocele.In vivo kinetics of formate metabolism in folate-deficient and folate-replete rats.Partitioning of One-Carbon Units in Folate and Methionine Metabolism Is Essential for Neural Tube Closure.A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.Genetic contribution of retinoid-related genes to neural tube defects.Deletion of the neural tube defect-associated gene Mthfd1l disrupts one-carbon and central energy metabolism in mouse embryos.Metabolic etiologies in West syndrome.Quantification of Cellular Folate Species by LC-MS after Stabilization by Derivatization.The impact of common genetic variants in the mitochondrial glycine cleavage system on relevant metabolites.Insights into the Etiology of Mammalian Neural Tube Closure Defects from Developmental, Genetic and Evolutionary Studies
P2860
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P2860
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Mutations in genes encoding th ...... be defects in mice and humans.
@en
type
label
Mutations in genes encoding th ...... be defects in mice and humans.
@en
prefLabel
Mutations in genes encoding th ...... be defects in mice and humans.
@en
P2093
P2860
P50
P356
P1476
Mutations in genes encoding th ...... be defects in mice and humans.
@en
P2093
Alexis Robinson
Atsuo Kikuchi
Ayumi Narisawa
Darren Partridge
James Grinham
Kazuko Fujiwara
Kit-Yi Leung
Mitsuyo Tanemura
Nicholas D E Greene
Peter Gustavsson
P2860
P304
P356
10.1093/HMG/DDR585
P577
2011-12-13T00:00:00Z