Research Article

Related GMR Articles

01/18/2011
Bladder carcinoma; DNA sequencing; Fibroblast growth factor receptor 3; Mutation; PCR; Transitional cell carcinoma

Bladder cancer is the most frequent cancer of the urinary system. Fibroblast growth factor receptors (FGFR) belong to the tyrosine kinase family and have important roles in cell differentiation and proliferation and embryogenesis. FGFR3 is located on chromosome 4p16.3, and missense mutations of FGFR3 are associated with autosomal dominant human skeletal disorders and ... more

Y. Dodurga; N.L. Satiroglu-Tufan; C. Tataroglu; Z. Kesen
12/04/2013
Genetics; Mutation; Steroid-resistant nephrotic syndrome; Wilms’ tumor suppressor gene

Mutations in the Wilms' tumor suppressor gene (WT1) can lead to syndromic forms of steroid-resistant nephrotic syndrome (SRNS) such as Denys-Drash or Frasier syndrome and can cause isolated SRNS. A mutation within WT1 is a frequent cause of sporadic isolated SRNS in girls. In a worldwide cohort of girls, the rate of occurrence was 10.8%. Previous reports have indicated ... more

Y.H. Yang; F. Zhao; D.N. Feng; J.J. Wang; C.F. Wang; J. Huang; X.J. Nie; G.Z. Xia; G.M. Chen; Z.H. Yu
10/29/2013
FMF; MEFV gene; Molecular diagnosis; Mutation

The purpose of this study was to determine the spectrum of the most common mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients from the Central Anatolia region, by using two different methods for detecting FMF-associated mutations with different screening panels, and compare our results with other diagnostic molecular genetics centers. A total of 1579 ... more

A.G. Zamani; A. Acar; M.S. Yildirim
09/05/2014
DNA sequencing; GH gene; Growth traits; Polymerase chain reaction single-strand conformation polymorphism; Polymorphism; Sheep

The growth hormone gene plays an important role in the physiological function of an organism. The current study aimed to investigate the correlation between polymorphisms in the 5ꞌ regulatory region, exon 4, and 3ꞌ untranslated region (UTR) of the sheep GH gene and sheep growth traits. The DNA from 510 adult sheep was analyzed by DNA sequencing and polymerase chain reaction single ... more

J.L. Jia; L.P. Zhang; J.P. Wu; Z.J. Ha; W.W. Li
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
04/29/2014
Familial Mediterranean fever; Gene polymorphism; Glutathione peroxidase; Inflammation; Oxidative stress; Paraoxonase

Familial Mediterranean fever (FMF) is an autosomal recessive disorder and is the most frequent of the periodic febrile inflammatory syndromes. The pathogenesis of the disease is not completely understood, even though the FMF gene has been identified. Oxidative stress and inflammation may play a role in the pathogenesis of FMF. We investigated gene polymorphisms of the antioxidative ... more

F. Öktem; H. Anıl; R. Sütcü; A.E. Kuybulu

Pages