Clinical Medicine: Recent submissions
Now showing items 741-760 of 1003
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Analysis of the MTHFD1 promoter and risk of neural tube defects
(2009)Genetic variants in MTHFD1 (5,10-methylenetetrahydrofolate dehydrogenase/ 5,10-methenyltetrahydrofolate cyclohydrolase/ 10-formyltetrahydrofolate synthetase), an important folate metabolic enzyme, are associated with a ... -
Deriving a useful packed cell volume estimate from haemoglobin analysis
(1994)A method is described whereby the packed cell volume (PCV) of a blood sample can be estimated from the haemoglobin concentration. The method defines the relation existing between haemoglobin concentration and the PCV of ... -
The "thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: An evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother
(1999)Recent reports have implicated the "thermolabile" (T) variant of methylenetetrahydrofolate reductase (MTHFR) in the causation of folate-dependent neural tube defects (NTDs). We report herein the largest genetic study of ... -
Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate.
(2008)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 ... -
Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population.
(2008)Genetic and environmental factors contribute to the etiology of neural tube defects (NTDs). While periconceptional folic acid supplementation is known to significantly reduce the risk of NTDs, folate metabolic pathway ... -
Uncoupling protein 2 polymorphisms as risk factors for NTDs
(2009)Both environmental and genetic factors are involved in the etiology of neural tube defects (NTDs). Inadequate folate intake and obesity are important environmental risk factors. Several folate-related genetic variants have ... -
Testing reported associations of genetic risk factors for oral clefts in a large Irish study population.
(2010)BACKGROUND Suggestive, but not conclusive, studies implicate many genetic variants in oral cleft etiology. We used a large, ethnically homogenous study population to test whether reported associations between nonsyndromic ... -
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
(2010)Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant ... -
Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.
(2011)Abstract Individual studies of the genetics of neural tube defects (NTDs) contain results on a small number of genes in each report. To identify genetic risk factors for NTDs, we evaluated potentially functional single ... -
Women's compliance with current folic acid recommendations and achievement of optimal vitamin status for preventing neural tube defects.
(2011)BACKGROUND The timing of folic acid supplement usage is critical to preventing pregnancies affected by neural tube defects (NTDs) because the neural tube closes by Day 28 post-conception. We investigated compliance of ... -
Maternal folate, vitamin B12 and homocysteine levels in pregnancies affected by congenital malformations other than neural tube defects.
(2011)Background— Periconceptional use of folic acid prevents most neural tube defects (NTDs). Whether folic acid and/or multivitamins can prevent other congenital anomalies is not clear. This study tested whether maternal ... -
Do high blood folate concentrations exacerbate metabolic abnormalities in people with low vitamin B-12 status?
(2011)ABSTRACT Background: In elderly individuals with low serum vitamin B-12, those who have high serum folate have been reported to have greater abnormalities in the following biomarkers for vitamin B-12 defi- ciency: low ... -
Transcobalamin polymorphism 67A->G, but not 776C->G, affects serum holotranscobalamin in a cohort of healthy middle-aged men and women.
(2011)Two polymorphic variants in the gene coding for transcobalamin II ( TCN2 ), TCN2 776C- . Gand TCN2 67A- . G, may alter serum holotranscobalamin (holoTC), which in turn may affect cellular uptake of cobalamin ... -
Folate and vitamin B12 in idiopathic male infertility.
(2011)Although methylenetetrahydrofolate reductase, a folate enzyme gene, has been associated with idiopathic male infertility, few studies have examined other folate-related metabolites and genes. We investigated whether ... -
Effects of prenatal fish-oil and 5-methyltetrahydrofolate supplementation on cognitive development of children at 6.5 y of age.
(2011)Background: The influence of prenatal long-chain polyunsaturated fatty acids (LC-PUFAs) and folate on neurologic development re- mains controversial. Objective: The objective was to assess the long-term effects of ... -
Formate can differentiate between hyperhomocysteinemia due to impaired remethylation and impaired transsulfuration.
(2012)Formate can differentiate between hyperhomocysteinemia due to impaired remethylation and impaired transsulfuration. Am J Physiol Endocrinol Metab 301: E000-E000, 2011. First published September 20, 2011; 10.1152/ajpendo. ... -
Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland.
(2012)Background: Polymorphisms within the MTHFD1L gene were previously associated with risk of neural tube defects in Ireland. We sought to test the most significant MTHFD1L polymorphisms for an association with risk of ... -
Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects.
(2012)Background: Neural tube defects (NTDs) are common birth defects (~1 in 1000 pregnancies in the US and Europe) that have complex origins, including environmental and genetic factors. A low level of maternal folate is ... -
Low colonocyte folate is associated with uracil misincorporation and global DNA hypomethylation in human colorectum.
(2013)Low folate status is a risk factor for colon carcinogenesis; mechanisms proposed to account for this relationship include uracil misincorporation into DNA and global DNA hypomethylation. We investigated whether such ... -
Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.
(2013)The plasma glycoprotein von Willebrand factor (VWF) exhibits fivefold antigen level variation across the normal human population determined by both genetic and environmental factors. Low levels of VWF are associated with ...
