Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects Tập 79 Số 3 - Trang 187-210 - 2007
M. J. Harris, D. M. Juriloff
AbstractBACKGROUND: 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 common human NTDs, anencephaly, and spina bifida aperta.
RESULTS: Of the 150 mo... hiện toàn bộ
Folic acid–containing supplement consumption during pregnancy and risk for oral clefts: A meta‐analysis Tập 79 Số 1 - Trang 8-15 - 2007
Rachel Badovinac, Martha M. Werler, Paige L. Williams, Karl T. Kelsey, Catherine Hayes
AbstractBACKGROUND: 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 prevalences are different for those whose mothers
took foli... hiện toàn bộ
Teratogen update: Methotrexate Tập 94 Số 4 - Trang 187-207 - 2012
Sara C. Hyoun, Sarah Običan, Anthony R. Scialli
AbstractMethotrexate 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 standard treatment for ectopic
pregnancy... hiện toàn bộ
Prevalence of esophageal atresia among 18 international birth defects surveillance programs Tập 94 Số 11 - Trang 893-899 - 2012
Natasha Nassar, Emanuele Leoncini, Emmanuelle Amar, Jazmín Arteaga‐Vázquez, Marian K. Bakker, Carol Bower, Mark A. Canfield, Eduardo E. Castilla, Guido Cocchi, Adolfo Correa, Melinda Csáky‐Szunyogh, Marcia L. Feldkamp, Babak Khoshnood, Danielle Landau, Nathalie Lelong, Jorge S. López‐Camelo, R. Brian Lowry, Robert McDonnell, Paul Merlob, Júlia Métneki, Margery Morgan, Osvaldo M. Mutchinick, Miland Palmer, Anke Rißmann, Csaba Siffel, A Šípek, Elena Szabová, David Tucker, Pierpaolo Mastroiacovo
AbstractBACKGROUND: 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 of the 46 birth defects surveillance programs, members of the
International Clea... hiện toàn bộ
AXIN2andCDH1polymorphisms, tooth agenesis, and oral clefts Tập 85 Số 2 - Trang 169-173 - 2009
Ariadne Letra, Renato Menezes, José Mauro Granjeiro, Alexandre R. Vieira
AbstractBACKGROUND:AXIN2andCDH1genes 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 agenesis. We
investigated ifAXIN2andCDH1polymorphisms were associated with clefts or with any
associated dent... hiện toàn bộ
Folate‐related gene polymorphisms as risk factors for cleft lip and cleft palate Tập 82 Số 9 - Trang 636-643 - 2008
William H. James, Anne M. Molloy, Anne Parle‐McDermott, James Troendle, Lawrence C. Brody, Mary Conley, Christopher Cox, Faith Pangilinan, Donald P. Orr, Michael Earley, Eamon McKiernan, Ena Lynn, Anne Doyle, John M. Scott, Peadar N. Kirke
AbstractBACKGROUND: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 metabolism (MTHFR 677 C→T, MTHFR 1298 A→C, MTHFD1 1958 G→A, and TC II 776
C→... hiện toàn bộ
Folate pathway and nonsyndromic cleft lip and palate Tập 91 Số 1 - Trang 50-60 - 2011
Susan H. Blanton, Robin R. Henry, Quiping Yuan, John B. Mulliken, Samuel Stal, Richard H. Finnell, Jacqueline T. Hecht
AbstractBACKGROUNDNonsyndromic 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 birth defects including NSCLP. Past studies investigating the
role ... hiện toàn bộ
Developmental consequences of abnormal folate transport during murine heart morphogenesis Tập 70 Số 7 - Trang 449-458 - 2004
Louisa S. Tang, Bogdan J. Wlodarczyk, Daniel R. Santillano, Rajesh C. Miranda, Richard H. Finnell
AbstractBACKGROUNDFolic 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
congenital heart defects (CHDs). Although maternal folate supplementation is
believed to prevent h... hiện toàn bộ
Neural and orofacial defects in Folbp1 knockout mice Tập 67 Số 4 - Trang 209-218 - 2003
Louisa S. Tang, Richard H. Finnell
AbstractBACKGROUNDFolic 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 better understand potential
interactions between Folbp1 gene and selected genes involved in neural and
craniofacial morphoge... hiện toàn bộ