Research Article

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10/25/2011
Congenital heart defect; Folic acid; Homocysteine; Methionine synthase reductase; Polymorphisms

Congenital heart defects (CHDs) are the most common birth defects; genes involved in homocysteine/folate metabolism may play important roles in CHDs. Methionine synthase reductase (MTRR) is one of the key regulatory enzymes involved in the metabolic pathway of homocysteine. We investigated whether two polymorphisms (A66G and C524T) of the MTRR gene are associated with ... more

W. Zeng; L. Liu; Y. Tong; H.M. Liu; L. Dai; M. Mao
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Cleft lip; Cleft palate; Folic acid; Nonsyndromic; Registry-based cases; Turkey

Oral clefts are one of the most common birth defects in humans. However, few population-based studies of these defects have been carried out in Turkey. Our objective was to determine the registries of cases of cleft lip and palate. All cases of cleft lip and palate referred to central state hospitals in Denizli between January 2000 and May 2010 were investigated retrospectively. Anomalies ... more

A.G. Tomatir; I. Acikbas; B. Akdag; A. Köksal
10/20/2014
Folic acid; Neural tube defect; Registry; Spina bifida; Turkey

Neural tube defects (NTD) are among the most common congenital abnormalities, with an incidence of 3 per 1000 live births in Turkey. In a study of major congenital abnormalities in the city of Denizli, Turkey, abnormalities of the central nervous system are particularly common (31.1%). The objective of this study was to develop a registry of cases with NTDs in Denizli. Cases that had been ... more

A.G. Tomatir; K. Vural; I. Acikbas; B. Akdag
03/26/2014
bifida; Diabetes; Folic acid; MTHFR; Neural tube defects

Abnormalities in maternal folate and carbohydrate metabolism have both been shown to induce neural tube defects (NTD) in humans and animal models. However, the relationship between these two factors in the development of NTDs remains unclear. Data from mothers of children with spina bifida seen at the Unidad de Espina Bífida del Hospital Infantil Virgen del Rocío (case group) were ... more

N.M. Cadenas-Benitez; F. Yanes-Sosa; A. Gonzalez-Meneses; L. Cerrillos; D. Acosta; J.M. Praena-Fernandez; O. Neth; G. de Terreros; P. Ybot-González
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Differentially expressed genes; Endothelial progenitor cells; Folic acid; Immune response; Type 1 diabetes mellitus

We investigated the effects of type 1 diabetes mellitus (T1DM) on endothelial progenitor cells (EPCs) at the molecular level and assessed the therapeutic potential of folic acid (FA) in DM. We downloaded the gene expression profile of the EPCs from T1DM patients before and after treatment with FA and from healthy controls. We identified the differentially expressed genes (DEGs) in the ... more

D.N. Fang; X.D. He; X.H. Li; H. Jia; P.Y. Li; Q. Lu; Z. Quan; Q.L. Wang
12/09/2008
Multidrug resistance; multidrug resistance protein; Single nucleotide polymorphism

One of the main problems in treating cancer patients is that cancer cells can develop drug resistance. Resistance to multiple anticancer drugs, so called multidrug resistance (MDR), most likely involves a nonspecific mode of resistance, through drug-efflux transporters. One of the most extensively studied genes involved in MDR is multidrug resistance protein 1 (MRP1). We investigated ... more

F. Mahjoubi; S. Akbari; M. Montazeri; F. Moshyri
12/14/2011
Carcass traits; quantitative trait locus; Single nucleotide polymorphism; Sus scrofa chromosome 7 (SSC7)

Many QTLs for fatness traits have been mapped on pig chromosome 7q1.1-1.4 in various pig resource populations. Eight novel markers, including seven SNPs and one insertion or deletion within BTNL1, COL21A1, PPARD, GLP1R, MDFI, GNMT, ABCC10, and PLA2G7 genes, as well as two previously reported SNPs in SLC39A7 and ... more

W.H. Huang; Z.X. Ma; Z.Y. Xu; Y.Z. Xiong; B. Zuo
09/27/2011
Allelic frequencies; meat quality; Myogenic determination gene 1; Qinchuan cattle; Single nucleotide polymorphism

The myogenic determination 1 (MyoD1) gene is a member of the MyoD gene family. It encodes for skeletal muscle-specific transcription factors containing highly conserved basic helix-loop-helix regions that perform important roles in the initiation, maintenance, and regulation of phenotypic traits. We investigated a new single nucleotide polymorphism (SNP) in the MyoD1 gene to evaluate ... more

J.A. Ujan; L.S. Zan; H.B. Wang; S.A. Ujan; C. Adoligbe; H.C. Wang; S.F. Biao
08/26/2011
Dairy cattle; Fertility; Growth hormone; IGF-1; Single nucleotide polymorphism

The somatotrophic axis (GH-IGF) is a key regulator of animal growth and development, affecting performance traits that include milk production, growth rate, body composition, and fertility. The aim of this study was to quantify the association of previously identified SNPs in bovine growth hormone (GH1) and insulin-like growth factor 1 (IGF-1) genes with direct ... more

M.P. Mullen; C.O. Lynch; S.M. Waters; D.J. Howard; P. O’Boyle; D.A. Kenny; F. Buckley; B. Horan; M.G. Diskin
08/26/2011
Cathechol-o-methyltransferase; Dopamine D3 receptor; Polymerase chain reaction; Restriction fragment length polymorphism; Schizophrenia; Single nucleotide polymorphism

Molecular components of the dopamine D3 receptor (DRD3) may play an important role in the pathophysiology of schizophrenia. Previous studies have demonstrated an association between DRD3 Ser9Gly and cathechol-o-methyltransferase (COMT, SNP = rs165656) polymorphisms and schizophrenia but the results were inconclusive. We investigated this apparent association between Ser9Gly (A/G) ... more

S.F. Tee; P.Y. Tang; H.C. Loh

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