Research Article

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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
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
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
05/07/2012
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
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
09/18/2002
Brazil; Glutathione S-transferase; Polymorphism

The glutathione S-transferase (GST) family of enzymes has a vital role in phase II of biotransformation of environmental carcinogens, pollutants, drugs and other xenobiotics. GSTs are polymorphic, with the type and frequency of polymorphism being ethnic dependent. Polymorphisms in GST genes have been shown to be associated with susceptibility to disease and disease outcome. We ... more

A. Rossini; D.C.M. Rapozo; L.M.F. Amorim; J.M.B. Macedo; R. Medina; J.F.N. Neto; C.V.M. Gallo; L.F.R. Pinto
03/28/2007
Dog breeds; Growth; Polymorphism; SNP; SOCS2

Suppressor of cytokine signaling 2 (SOCS2) is a negative regulator of growth hormone signaling. The deletion of SOCS2 in mice results in a 30-50% increase in post-natal growth. In an effort to identify polymorphisms in the SOCS2 gene that may be associated with body size in dogs, we characterized the canine SOCS2 gene and analyzed its genetic diversity among small and large dog breeds ... more

G. Rincón; A.E. Young; D.L. Bannasch; J.F. Medrano
03/14/2006
Alu; CEPH panel; Human population genetics; Polymorphism; X chromosome

We describe a novel polymorphic Alu insertion (DXS225) on the human X chromosome (Xq21.3) embedded into an L1 retrotransposon. The DXS225 polymorphism was genotyped in 684 males from the CEPH Human Genome Diversity Panel. This insertion was found in all regions of the globe, suggesting that it took place before modern humans spread from Africa ca. 100,000 ... more

R.Wellerson Pereira; S.Silva dos Santos; S.Danilo Jun Pena
01/05/2009
meningiomas; metastases; Methylation; Polymorphism; schwannomas; TP53

The p53 tumor suppressor gene is the most frequently mutated gene in human cancer; this gene is mutated in up to 50% of human tumors. It has a critical role in the cell cycle, apoptosis and cell senescence, and it participates in many crucial physiological and pathological processes. Polymorphisms of p53 have been suggested to be associated with genetically determined susceptibility in various ... more

L.O. Almeida; A.C. Custódio; G.R. Pinto; M.J. Santos; J.R.W. Almeida; C.A. Clara; J.A. Rey; C. Casartelli

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