Research Article

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06/15/2010
AGER; Genetic polymorphisms; Gestational diabetes; RAGE; Single nucleotide polymorphisms

The receptor for advanced glycation end products (RAGE or AGER) is a multiligand member of the immunoglobulin superfamily. RAGE is expressed in several tissues, including human myometrium, chorionic villi and placenta. Advanced glycation end products are the best studied ligands of RAGE; they have pro-inflammatory actions in human gestational tissues, ... more

I.C.R. Santos; D.R. Daga; H.R. Frigeri; R.R. Réa; A.C.R. Almeida; E.M. Souza; F.O. Pedrosa; C.M.T. Fadel-Picheth; G. Picheth
02/02/2015
Gestational diabetes; Macrophage migration inhibitory factor; Polymorphism; rs1007888; Single-nucleotide polymorphism

We investigated the association between macrophage migration inhibitory factor (MIF) rs1007888 single-nucleotide polymorphisms and the genetic susceptibility to gestational diabetes mellitus (GDM). A total of 240 GDM pregnant women (GDM group) and 330 healthy pregnant women (control group) were included in the study. Differences in the MIF rs1007888 genotype and allele ... more

Y. Zhan; C. Li; J. Chen; S. Yu; Q. Gao; Y.P. Wang; S.G. Liu
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Bladder cancer; Genetic susceptibility; hOGG1; Meta-analysis; Polymorphism

The functional polymorphism Ser326Cys (rs1052133) in the human 8-oxoguanine DNA glycosylase (hOGG1) gene has been implicated in bladder cancer risk. However, reports of this association between the Ser326Cys polymorphism and bladder cancer risk are conflicting. In order to help clarify this relationship, we made a meta-analysis of seven case-control studies, summing 2521 cases ... more

D.Y. Zhong; H.Y. Chu; M.L. Wang; L. Ma; D.N. Shi; Z.D. Zhang
02/13/2014
Diffuse gastric cancer; Epithelial cadherin; Genetic susceptibility; Meta-analysis; Polymorphism

Several previous studies have investigated whether the -160C/A epithelial cadherin promoter polymorphism confers an increased risk of diffuse gastric cancer (DGC), but conflicting results have been reported. To explore further the association of this polymorphism with DGC susceptibility, we performed an extensive search of relevant studies and conducted a meta-analysis to obtain a more ... more

X.W. Chen; J.X. Sun; Z.N. Wang; P. Gao; Y.X. Song; J.F. Cao; B. Liu; H.M. Xu
05/05/2009
Glucokinase; Jordanian; MODY2; Mutation

Maturity-onset diabetes of the young type 2 (MODY2) is a genetic form of diabetes mellitus caused by mutations in the glucokinase gene (GCK). We assessed the frequency of GCK gene mutations in Jordanian suspected MODY2 patients. We screened exons 7, 8 and 9, which are specific for pancreatic glucokinase, for mutations at positions 682A>G, p.T228A; 895G>C, p.G299R, and ... more

R. Khalil; F. Al-Sheyab; E. Khamaiseh; M.A. Halaweh; H.A. Abder-Rahman
05/27/2008
mutations; p14ARF; p15INK4b; p16INK4a; PTEN

The cancer is one of the most common and severe problems in clinical medicine, and nervous system tumors represent about 2% of the types of cancer. The central role of the nervous system in the maintenance of vital activities and the functional consequences of the loss of neurons can explain how severe brain cancers are. The cell cycle is a highly complex process, with a wide number of ... more

L.O. Almeida; A.C. Custódio; J.J. Araújo; J.A. Rey; J.R.W. Almeida; M.J. Santos; C.A. Clara; C. Casartelli
04/02/2013
Cattle; Gene; mutations; Polymorphism; Sequence; TNF-RII

Tumor necrosis factor receptor type II (TNF-RII) is a surface glycoprotein that can form a complex with TNF-α and participate in the body's immune response. Functions of TNF-RII are impaired in the pathogenesis of viral diseases. We analyzed sequences in the regulatory region of the TNF-RII gene in cattle. An attempt was also made to identify mutations that would have the greatest effect ... more

A. Stachura; E. Kaczmarczyk; B. Bojarojć-Nosowicz
01/22/2013
G4.5; mutations; Noncompaction of the ventricular myocardium

To find the underlying cause of noncompaction of the ventricular myocardium (NVM), three Chinese families with probands who presented this problem were studied. After the family members were evaluated by echocardiography, the gene G4.5 (taffazin) was scanned by sequencing. Although X-linked inheritance could not be ruled out, NVM were thought to have a vague rule of inheritance ... more

Q. Liu; X.F. Qi; F. Ye; J. Yao; J. Xu
08/31/2012
Crohn’s disease; Malaysian; mutations; Variants

Crohn’s disease is a chronic, relapsing inflammatory bowel disease; it affects the mucosa and deeper layers of the digestive wall. Two Crohn’s disease patients who carried the JW1 variant and two patients who carried the SNP5 variant were investigated for other co-inherited polymorphisms that could influence Crohn’s disease development. Based on the sequencing results, a homozygous 5ꞌ-UTR ... more

K.H. Chua; C.C. Ng; I. Hilmi; K.L. Goh
06/21/2012
ARMS-PCR; Genotyping; mutations; PCR-SSCP; PRNP alleles; Sheep

Anti-scrapie breeding programs have been initiated to screen for scrapie-resistant sheep based on ovine prion protein gene (PRNP) genotypes at codons 136, 154 and 171 in many countries, especially European Union member states. However, investigation of sheep PRNP genotypes is limited in China, despite the large number of sheep breeds. We analyzed 432 sheep of five different breeds from ... more

C.L. Zhao; R. Wu; L. Liu; F.D. Li; X.L. Zhang; C. Wang; F. Wang; X.L. Diao; H.W. Guan; X. Wang; L. Zhou

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