A5038433352- Folate and B Vitamins Research
- Metabolism and Genetic Disorders
- Esophageal and GI Pathology
- Cleft Lip and Palate Research
- Prenatal Screening and Diagnostics
- Iron Metabolism and Disorders
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Genomics and Rare Diseases
- Urological Disorders and Treatments
- Prenatal Substance Exposure Effects
- Craniofacial Disorders and Treatments
- Porphyrin Metabolism and Disorders
- Microtubule and mitosis dynamics
- Pediatric Hepatobiliary Diseases and Treatments
- Genomic variations and chromosomal abnormalities
- RNA regulation and disease
- Genetics and Neurodevelopmental Disorders
- Gestational Diabetes Research and Management
- Fungal and yeast genetics research
- Congenital gastrointestinal and neural anomalies
- Gallbladder and Bile Duct Disorders
- Intestinal Malrotation and Obstruction Disorders
- Moyamoya disease diagnosis and treatment
- Epigenetics and DNA Methylation
National Human Genome Research Institute
2014-2024
National Institutes of Health
2010-2024
Washington Center
2019-2022
Triangle
2019
Indianapolis Zoo
2019
Kentucky Science Center
2019
John Wiley & Sons (United States)
2019
University of Washington
2019
Newcastle University
2013
United States Department of Health and Human Services
2005
Abstract Background Neural tube defects (NTDs) are common birth (~1 in 1000 pregnancies the US and Europe) that have complex origins, including environmental genetic factors. A low level of maternal folate is one well-established risk factor, with periconceptional folic acid supplementation reducing occurrence NTD by 50-70%. Gene variants metabolic pathway (e.g., MTHFR rs1801133 (677 C > T) MTHFD1 rs2236225 (R653Q)) been found to increase risk. We hypothesized additional folate/B12 genes...
Abstract BACKGROUND: Cleft lip with or without cleft palate (CLP) and only (CPO) have an inherited component and, many studies suggest, a relationship folate. Attempts to find folate‐related genes associated clefts have, however, often been inconclusive. This study examined four SNPs related folate metabolism ( MTHFR 677 C→T, 1298 A→C, MTHFD1 1958 G→A, TC II 776 C→G) in large Irish population clarify their clefts. METHODS: Cases parents were recruited from major surgical centers performing...
Abstract 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 clefts and 12 genes ( CLPTM1 , CRISPLD2 FGFR2 GABRB3 GLI2 IRF6 PTCH1 RARA RYK SATB2 SUMO1 TGFA ) could be confirmed. METHODS: Thirty‐one single nucleotide polymorphisms (SNPs) exons, splice sites, conserved non‐coding regions were studied 509 patients with lip or...
One-carbon metabolism (OCM) is linked to DNA synthesis and methylation, amino acid cell proliferation. OCM dysfunction has been associated with increased risk for various diseases, including cancer neural tube defects. MicroRNAs (miRNAs) are ∼22 nt RNA regulators that have implicated in a wide array of basic cellular processes, such as differentiation metabolism. Accordingly, mis-regulation miRNA expression and/or activity can underlie complex disease etiology. We examined the possibility...
Saccharomyces cerevisiae cells containing one or more abnormal kinetochores delay anaphase entry. The can be produced by using centromere DNA mutations present in single-copy kinetochore protein mutations. This observation is strikingly similar to the preanaphase arrest exhibited animal that experience spontaneous induced failures bipolar attachment of chromosomes and may reveal existence a conserved surveillance pathway monitors state chromosome spindle before anaphase. We find three genes...
Abstract Periconceptional maternal folic acid supplementation can prevent up to 70% of pregnancies affected with neural tube defects (NTDs), including spina bifida. This has focused attention on folate‐related genes such as dihydrofolate reductase ( DHFR ) in a bid identify the genetic factors that influence NTD risk through either fetal or genotype. We considered novel intronic 19‐bp deletion polymorphism and two polymorphisms within 3′ untranslated region (721A > T 829C T) gene...
Polymorphisms in folate-related genes have emerged as important risk factors a range of diseases including neural tube defects (NTDs), cancer, and coronary artery disease (CAD). Having previously identified polymorphism within the cytoplasmic folate enzyme, MTHFD1, maternal factor for NTDs, we considered more recently mitochondrial paralogue, MTHFD1L, candidate gene NTD association. We common deletion/insertion polymorphism, rs3832406, c.781-6823ATT(7-9), which influences splicing efficiency...
Low maternal folate or vitamin B12 status has been implicated in numerous pregnancy complications including spontaneous abortion. The primary aim of this study was to test a polymorphism within the trifunctional enzyme MTHFD1 (5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase) for an association with mother's risk having unexplained second trimester loss. We genotyped 125 women who had at least one abortion...
This study examined the relationship between folate/homocysteine-related genetic polymorphisms: MTHFD1 1958G → A (R653Q), MTHFR 677C T (A222V), 1298A C (E429A), and risk of severe abruptio placentae. We genotyped 62 women with a pregnancy history complicated by placentae 184 control pregnancies. Analysis (R653Q) polymorphism showed increased frequency 'QQ' homozygote genotype in pregnancies affected compared to (odds ratio 2.85 (1.47–5.53), P = 0.002). In contrast previous reports,...
<h3>Objective</h3> Women who have low cobalamin (vitamin B<sub>12</sub>) levels are at increased risk for having children with neural tube defects (NTDs). The transcobalamin II receptor (<i>TCblR</i>) mediates uptake of into cells. Inherited variants in the <i>TCblR</i> gene as NTD factors were evaluated. <h3>Methods</h3> Case–control and family-based tests association used to screen common variation genetic NTDs a large Irish group. A confirmatory group triads was test positive findings....
Abstract Individual studies of the genetics neural tube defects (NTDs) contain results on a small number genes in each report. To identify genetic risk factors for NTDs, we evaluated potentially functional single nucleotide polymorphisms (SNPs) that are biologically plausible NTDs but have never been investigated an association with examined SNPs previously showed no published studies, and tried to confirm reported associations folate‐related non‐folate‐related genes. We 64 34 spina bifida...
In humans, poor nutrition, malabsorption and variation in cobalamin (vitamin B12) metabolic genes are associated with hematological, neurological developmental pathologies. Cobalamin is transported from blood into tissues via the transcobalamin (TC) receptor encoded by CD320 gene. We created mice carrying a targeted deletion of mouse ortholog, Cd320. Knockout (KO) lacking this TC have elevated levels plasma methylmalonic acid homocysteine but otherwise healthy, viable, fertile not anemic. To...
The spindle assembly checkpoint modulates the timing of anaphase initiation in mitotic cells containing improperly aligned chromosomes and increases probability successful delivery a euploid chromosome set to each daughter cell. We have characterized cDNA sequences from several organisms with highly significant predicted protein sequence homologies toSaccharomyces cerevisiaeBub1p, required for function budding yeast. localization mouse human orthologs is agreement known conservation synteny....