Wiley
1542-0752
1542-0760
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Các bài báo tiêu biểu
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,...
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 ...
Tập 79 Số 3 - Trang 187-210 - 2007
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...
Tập 79 Số 1 - Trang 8-15 - 2007
Teratogen update: MethotrexateAbstract Methotrexate and aminopterin are folic acid antagonists that inhibit dihydrofolate reductase, resulting in a block in the synthesis of thymidine and inhibition of DNA synthesis. Methotrexate has been used for the treatment of malignancy, rheumatic disorders, and psoriasis and termination of intrauterine pregnancy. Recently, methotrexate has become a standar... ...
Tập 94 Số 4 - Trang 187-207 - 2012
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...
Tập 94 Số 11 - Trang 893-899 - 2012
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...
Tập 82 Số 9 - Trang 636-643 - 2008
Folate pathway and nonsyndromic cleft lip and palateAbstract BACKGROUND Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common complex birth defect. Periconceptional supplementation with folic acid, a key component in DNA synthesis and cell division, has reduced the birth prevalence of neural tube defects and may similarly reduce the birth prevalence of other complex...
Tập 91 Số 1 - Trang 50-60 - 2011
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...
Tập 85 Số 2 - Trang 169-173 - 2009
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...
Tập 70 Số 7 - Trang 449-458 - 2004
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...
Tập 67 Số 4 - Trang 209-218 - 2003