Research Article

Related GMR Articles

05/07/2012
DNA sequencing; Familial Mediterranean fever; Genetics; MEFV gene; Mutation

Familial Mediterranean fever is a recessive autoinflammatory disease that is frequent in Armenians, Jews, Arabs, and Turks. The MEFV gene is responsible for this disease. We looked for MEFV gene variations (polymorphism and mutations) in a population that resides in Central Anatolia, Turkey. DNA was extracted from peripheral blood leukocytes of 802 familial Mediterranean ... more

G.G. Ceylan; C. Ceylan; E. Ozturk
11/11/2014
Immunosuppressive agents; Mutation; Podocyte genes; Steroid treatment; Steroid-resistant nephrotic syndrome

Recent studies have demonstrated that mutations in 4 podocyte genes, NPHS1, NPHS2, CD2AP, and WT1, are associated with the pathogenesis of steroid-resistant nephrotic syndrome (SRNS). Systematic investigation of all 4 genes for sporadic SRNS in China has not been performed. We examined 10 Chinese children with sporadic SRNS who showed no response to ... more

D.N. Feng; Y.H. Yang; D.J. Wang; D.C. Meng; R. Fu; J.J. Wang; Z.H. Yu
12/08/2011
Breast cancer; CYP2C19; Genetics; Polymorphism

Cytochrome P450 (CYP) 2C19 metabolizes arachidonic acid to biologically active epoxyeicosatrienoic acids, which significantly promote proliferation of cancer cells in vitro and in vivo. We looked for a possible association between human CYP2C19*3 gene polymorphism and breast cancer in the Chinese Han population. In a Chinese Han case-control study of breast cancer ... more

C.Q. Gan; X.Y. Wang; Y.D. Cao; W.X. Ye; H. Liu; Y.Y. Sun
09/27/2013
Biomarker; Gene polymorphism; Genetics; Non-small cell lung cancer; Survivin

Lung cancer is the most common cancer worldwide. Survivin is one of the first reported inhibitors of apoptosis proteins, which is an important family of proteins that regulate apoptosis. The survivin gene is located on human chromosome 17q25, which is composed of 142 amino acids. A common polymorphism of the survivin gene promoter -31G/C has been shown to influence cancer risk. This ... more

E. Aynaci; E. Coskunpinar; A. Eren; O. Kum; Y.M. Oltulu; N. Akkaya; A. Turna; I. Yaylim; P. Yildiz
05/14/2013
5-Lipoxygenase activating protein; Cerebral infarction; Cyclooxygenase; Genetics; Polymorphism

We made a case-control study to investigate a possible association between ALOX5AP-SG13S114A/T, COX-2-765G/C, and COX-1-50C/T polymorphisms with cerebral infarction in a Chinese population. A total of 411 cases with cerebral infarction were included; 411 controls matched for age, gender, and risk factors were also selected. The ... more

X.Y. Yi; Q. Zhou; J. Lin; L.F. Chi; W.Z. Chi
04/17/2014
Autosomal dominant; Genetics; Primary open-angle glaucoma

Primary open-angle glaucoma (POAG) is a disease that is often inherited, but the rules governing its inheritance are inconclusive. Herein, we report a case of POAG in a Chinese family. A 25-year-old female patient was referred to our department with progressive visual acuity decline in her left eye for the past 3 years. Ophthalmological examination supported our diagnosis of POAG in both ... more

K. Shi; L. Zhao; C.Y. Wang
06/26/2015
Gene; Genetics; Non-small cell lung cancer; Radiation effects; Radiation tolerance

The aim of this study was to examine the relationship between genetic polymorphisms in DNA ligase 1 (LIG1) and non-small cell lung cancer (NSCLC) susceptibility and radiosensitivity in a Chinese population. This was a case-control study that included 352 NSCLC patients and 448 healthy controls. Polymerase chain reaction-restriction fragment length polymorphism analysis was conducted to ... more

H. Tian; X. He; L. Yin; W.J. Guo; Y.Y. Xia; Z.X. Jiang
10/05/2007
Gliomas; Mutation; PAX6

Gliomas are the most common tumors of the central nervous system. In spite of the marked advances in the characterization of the molecular pathogenesis of gliomas, these tumors remain incurable and, in most of the cases, resistant to treatments, due to their molecular heterogeneity. Gene PAX6, which encodes a transcription factor that plays an important role in the development ... more

G.R. Pinto; C.A. Clara; M.J. Santos; J.R.W. Almeida; R.R. Burbano; J.A. Rey; C. Casartelli
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
02/17/2009
Anencephaly; Birth defects; Mutation; Neural tube defects; Spina bifida

The incidence of neural tube defects is higher in Turkey compared to that of developed countries. To prevent congenital malformations, understanding of the current status is necessary, which should be followed by public-based activities. We examined the incidence rate of neural tube defects (NTDs) in Afyonkarahisar. According to the records of the Department of Pediatrics, Zubeyde Hanım ... more

S.T. Onrat; H. Seyman; M. Konuk

Pages