Wiley
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Cardiovascular abnormalities in Folr1 knockout mice and folate rescueAbstract BACKGROUND: Periconceptional folic acid supplementation is widely believed to aid in the prevention of neural tube defects (NTDs), orofacial clefts, and congenital heart defects. Folate‐binding proteins or receptors serve to bind folic acid and 5‐methyltetrahydrofolate, representing one of the two major mechanisms of cellul... ... hiện toàn bộ
Wiley - Tập 79 Số 4 - Trang 257-268 - 2007
Neural and orofacial defects in Folbp1 knockout miceAbstract BACKGROUND Folic acid is essential for the development of the nervous system and other associated structures. Mice deficient in the folic acid‐binding protein one (Folbp1 ) gene display multiple developmental abnormalities, including neural and craniofacial defects. To be... ... hiện toàn bộ
Wiley - Tập 67 Số 4 - Trang 209-218 - 2003
Developmental consequences of abnormal folate transport during murine heart morphogenesisAbstract BACKGROUND Folic acid is essential for the synthesis of nucleotides and methyl transfer reactions. Folic acid–binding protein one (Folbp1) is the primary mediator of folic acid transport into murine cells. Folbp1 knockout mouse embryos die in utero with multiple malformations, including severe con... ... hiện toàn bộ
Wiley - Tập 70 Số 7 - Trang 449-458 - 2004
AXIN2andCDH1polymorphisms, tooth agenesis, and oral cleftsAbstract BACKGROUND: AXIN2 andCDH1 genes play important roles during craniofacial morphogenesis. Mutations in these genes have been described in families presenting colorectal cancer and tooth agenesis, and gastric cancer and cleft lip/palate (CL/P). Oral clefts have been associated with tooth... ... hiện toàn bộ
Wiley - Tập 85 Số 2 - Trang 169-173 - 2009
An update to the list of mouse mutants with neural tube closure defects and advances toward a complete genetic perspective of neural tube closureAbstract The number of mouse mutants and strains with neural tube defects (NTDs) now exceeds 240, including 205 representing specific genes, 30 for unidentified genes, and 9 multifactorial strains. These mutants identify genes needed for embryonic neural tube closure. Reports of 50 new NTD mutants since our 2007 review (Harris and Juriloff,... hiện toàn bộ
Wiley - Tập 88 Số 8 - Trang 653-669 - 2010
Mouse mutants with neural tube closure defects and their role in understanding human neural tube defectsAbstract BACKGROUND : The number of mouse mutants and strains with neural tube closure defects (NTDs) now exceeds 190, including 155 involving known genes, 33 with unidentified genes, and eight “multifactorial” strains. METHODS : The emerging patterns of mouse NTDs are considered in relation to the unknown genetics of the ... ... hiện toàn bộ
Wiley - Tập 79 Số 3 - Trang 187-210 - 2007
Prevalence of esophageal atresia among 18 international birth defects surveillance programsAbstract BACKGROUND: The prevalence of esophageal atresia (EA) has been shown to vary across different geographical settings. Investigation of geographical differences may provide an insight into the underlying etiology of EA. METHODS: The study population comprised infants diagnosed with EA during 1998 to 2007 from 18 o... ... hiện toàn bộ
Wiley - Tập 94 Số 11 - Trang 893-899 - 2012
Folic acid–containing supplement consumption during pregnancy and risk for oral clefts: A meta‐analysisAbstract BACKGROUND : There is equivocal evidence in the published literature that folic acid supplementation during pregnancy may protect against the common congenital anomalies cleft lip with or without cleft palate (CLP) and cleft palate alone (CP). We undertook this meta‐analysis to test the hypothesis that nonsyndromic oral cleft birth pre... ... hiện toàn bộ
Wiley - Tập 79 Số 1 - Trang 8-15 - 2007
Maternal polymorphisms in folic acid metabolic genes are associated with nonsyndromic cleft lip and/or palate in the Brazilian populationAbstract BACKGROUND Polymorphisms in genes that are involved in folic acid metabolism may be important maternal risk factors for the birth of a child with nonsyndromic cleft lip and/or palate (NSCL/P). The aim of this study was to determine the involvement of polymorphic variants in four genes (MTHFR,
... hiện toàn bộ
Wiley - Tập 88 Số 11 - Trang 980-986 - 2010
Folate‐related gene polymorphisms as risk factors for cleft lip and cleft palateAbstract BACKGROUND: Cleft lip with or without cleft palate (CLP) and cleft palate only (CPO) have an inherited component and, many studies suggest, a relationship with folate. Attempts to find folate‐related genes associated with clefts have, however, often been inconclusive. This study examined four SNPs related to folate metaboli... ... hiện toàn bộ
Wiley - Tập 82 Số 9 - Trang 636-643 - 2008
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