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Search Results: 1 - 10 of 71990 matches for " ADRA2B gene "
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Genetic predictors of idiopathic sick sinus syndrome
A. A. Chernova,S. Yu. Nikulina,S. S. Tret'yakova
Rational Pharmacotherapy in Cardiology , 2012,
Abstract: Published data demonstrating genetic determination of sick sinus syndrome is presented. The definition of this pathology is presented; the main symptoms are described, as well as genes that influence the development of idiopathic sick sinus syndrome, their polymorphisms and role in disorders of the cardiovascular system.
ADRA2A IS A CYSTIC FIBROSIS MODIFIER GENE
MARSON F.A.L.,REZENDE L.M.,FURGERI D.T.,RIBEIRO A.F.
International Journal of Genetics , 2013,
Abstract: Background: Cystic fibrosis (CF) is an autosomal disease with characteristics of a complex disease. Understanding ADRA2A polymorphisms are important to elucidate clinical variability that is encountered in inflammatory diseases including CF, for which diabetes is an important comorbidity beyond the primary inflammatory pulmonary disease.Method: We included 176 CF patients. The rs553668 and rs10885122 ADRA2A gene polymorphisms were screened by ARMS-PCR. A genotypic comparison was performed with 27 CF clinical variables and CFTR mutations.Results: Clinical associations were found with the categorical variables: race [rs553668 polymorphism without taking the CFTR gene into account (p= 0.002); haplotype group, without taking the CFTR gene into account (p= 0.014)], meconium ileus [rs553668 polymorphism without taking the CFTR gene into account (p= 0.030) and patients with two CFTR mutations (p= 0.0012)] and BMI [rs553668 polymorphism in patients with two CFTR mutations (p= 0.014)]. The association with numerical data was positive for age of diagnosis [rs553668 polymorphism without taking CFTR mutations into account (p= 0.022)]; the Bhalla score [rs553668 polymorphism in patients with two CFTR mutations (p= 0.014)]; and the Shwachman-Kulczycki score [rs553668 polymorphism (p= 0.008) and haplotype (p= 0.050) in patients with two CFTR mutations].Conclusion: The rs553668 and rs10885122 ADRA2A gene polymorphisms are modifiers of CF severity.
From expression pattern to genetic association in asthma and asthma-related phenotypes
Vanessa T Vaillancourt, Martine Bordeleau, Michel Laviolette, Catherine Laprise
BMC Research Notes , 2012, DOI: 10.1186/1756-0500-5-630
Abstract: Before correction, 31 of the 85 genes selected were associated with at least one asthma-related phenotype. We found four genes that survived the correction for multiple testing. The rs11630178 in aggrecan gene (AGC1) is associated with atopy (p=0.0003) and atopic asthma (p=0.0001), the rs1247653 in the interferon alpha-inducible protein 6 (IFI6), the rs1119529 in adrenergic, alpha-2A-, receptor (ADRA2A) and the rs13103321 in the alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), are associated with asthma (p=0.019; 0.01 and 0.002 respectively).To our knowledge, this is the first time those genes are associated with asthma and related traits. Consequently, our study confirms that genetic and expression studies are complementary to identify new candidate genes and to investigate their role to improve the comprehension of the complexity of asthma pathophysiology.Asthma is a complex disease which is characterized by hyperresponsiveness, obstruction and inflammation of the airways and is modulated by the interaction of genetic and environmental factors [1]. The appearance of an immune response and of a remodeling process, which implicates structural and inflammatory cells, dictates the development, the severity and the chronicity of asthma [2]. Atopy, which also shows a genetic component, is characterized by the excessive production of immunoglobulin E in response to environmental allergens and is an important risk factor of asthma [3]. Using candidate genes approach, genome wide association studies, linkage analysis or genomic expression, studies of the last decades revealed that the pathophysiology of asthma is related with more than 300 genes [4,5]. Indeed, several studies showed that microarrays are a relevant tool to highlight genes that are implicated in the different processes occurring during asthma. [6,7] This study aims firstly to demonstrate that expression and genetic association studies complement each other and secondly to test the hypothesis tha
Ile587Val Polymorphism of the eIF2B5 Gene as Susceptibility Factor for Multiple Sclerosis  [PDF]
Carmine Ungaro, Francesca L. Conforti, Maria Trojano, Ida Manna, Virginia Andreoli, Francesca Condino, Paola Valentino, Antonio Gambardella, Aldo Quattrone, Rosalucia Mazzei
Neuroscience & Medicine (NM) , 2011, DOI: 10.4236/nm.2011.22017
Abstract: Mutations in the eIF2B gene cause the VWM disease. Genetic and biochemical data of MS patient and MRI data showing VWM images similar to MS lesions, encouraged the present study in which we analyzed the eIF2B5 gene in 225 unrelated MS patients to evaluate an overlapping between MS and VWM. A common variation Ile587Val was found very frequent in the MS patients respect normal controls, thus suggesting that Ile587Val should be considered as susceptibility factor in the development of MS. In conclusion, our data strongly highlight a possible involvement of the eIF2B5 in the development of MS.
Cloning and Expression Analysis of RrRUP2 Gene Related to Photomorphogenesis Biosynthesis in Rosa rugosa  [PDF]
Yenan Wang, Mingyuan Zhao, Xu Han, Lanyong Zhao, Zongda Xu
American Journal of Plant Sciences (AJPS) , 2018, DOI: 10.4236/ajps.2018.913183
Abstract:
Plants have evolved and perfected a series of light receptors to feel the light at different bands and regulate the expression, modification and interaction of related genes in plants through signal transduction. So far, many photoreceptors have been identified in plants, UVR8 has recently been identified as a receptor for UV-B light. This paper cloned a WD40 gene related to UVR8 protein subunit, named RrRUP2, based on the Rosa rugose transcriptome data, using Rosa rugose “Zi zhi” as experimental materials. The full length of cDNA of the gene was obtained by RT-PCR and RACE methods. The total length of this gene is 1173 bp, and it encodes 390 amino acids. After bioinformatics analysis, the molecular formula C3415H5659N1173O1434S313 was predicted; the relative molecular weight was 96129.27 Da; the theoretical isoelectric point PI value was 5.00; and its instability index was 47.06. The total average hydrophobic index was 0.750. In the secondary structure of RrRUP2 protein, there are 10 α-helix, 45 β-helix, 181 Random
A rare polymorphism of the COX7B2 gene in a cantonese family with nasopharyngeal carcinoma
Hui Liang,Hankui Chen,Yayun Shen,Qisheng Feng,Wei Jin,Wei Huang,Yixin Zeng
Science China Life Sciences , 2004, DOI: 10.1007/BF03187103
Abstract: Nasopharyngeal carcinoma (NPC) is the most common head and neck cancer in southern China, and the genetic susceptibility is believed to play an important role in the aetiology of this malignancy. In our previous studies, one candidate susceptibility locus has been mapped to chromosome 4p11-p14 in a subset of NPC families. In the present study, we screened the cytochrome oxidase VIIb2 (COX7B2) gene which resides in this region and investigated the relationship of single nucleotide polymorphisms (SNPs) of this gene with these familial NPC patients. We identified five novel SNPs in this gene, among them -158101 G > T and -157322G > A in promoter region, -109602A > G in intron 2, 78T > A in exon 3, and 354T > A in 3′-untranslational region. The change 78T > A at codon 26 which leads to CAT26CAA (His26Gln) was shared by patients from family 31 that carried the susceptibility haplotype, but not found in cases from other NPC families nor in sporadic cases. However, the frequency of allele A was relatively low in normal controls both from Guangdong and eastern China (0.45% and 0.26%, respectively), and this variant was not found in pooled DNA samples from the white and the black population. Protein sequence alignment showed that the 26His of COX7B2 protein is consistent among different species. Our results suggested that the codon 26 of COX7B2 gene might be conservative during the process of evolution, and the rare variation His26Gln was probably associated with the high risk in NPC pedigree 31.
A rare polymorphism of the COX7B2 gene in a Cantonese family with nasopharyngeal carcinoma
LIANG Hui,CHEN Hankui,SHEN Yayun,FENG Qisheng,JIN Wei,HUANG Wei,ZENG Yixin,
LIANG Hui
,CHEN Hankui,SHEN Yayun,FENG Qisheng,JIN Wei,HUANG Wei & ZENG Yixin . Cancer Center,Sun Yat-sen University,Guangzhou,China,. Chinese National Human Genome Center at Shanghai,Shanghai,China

中国科学C辑(英文版) , 2004,
Abstract: Nasopharyngeal carcinoma (NPC) is the most common head and neck cancer in southern China, and the genetic susceptibility is believed to play an important role in the aetiol-ogy of this malignancy. In our previous studies, one candidate susceptibility locus has been mapped to chromosome 4p11-p14 in a subset of NPC families. In the present study, we screened the cytochrome oxidase VIIb2 (COX7B2) gene which resides in this region and investigated the relationship of single nucleotide polymorphisms (SNPs) of this gene with these familial NPC pa-tients. We identified five novel SNPs in this gene, among them -158101G>T and -157322G>A in promoter region, -109602A>G in intron 2, 78T>A in exon 3, and 354T>A in 3?untranslational region. The change 78T>A at codon 26 which leads to CAT26CAA (His26Gln) was shared by patients from family 31 that carried the susceptibility haplotype, but not found in cases from other NPC families nor in sporadic cases. However, the frequency of allele A was relatively low in normal controls both from Guangdong and eastern China (0.45% and 0.26%, respectively), and this variant was not found in pooled DNA samples from the white and the black population. Pro-tein sequence alignment showed that the 26His of COX7B2 protein is consistent among different species. Our results suggested that the codon 26 of COX7B2 gene might be conservative during the process of evolution, and the rare variation His26Gln was probably associated with the high risk in NPC pedigree 31.
Expression of porcine CFL2b gene in C2C12 cells and its effect on the expression of MyHC
ZHAO Wei,ZENG Rui-Xia,SU Yu-Hong,BA Cai-Feng
Acta Zoologica Sinica , 2008,
Abstract: Porcine CFL2b gene is expressed mainly in skeletal muscle, it affects muscle development and myofibrillar formation. In order to study the relationship between CFL2b gene and muscle fiber trait, stable C2C12 cell clones groups expressing porcine CFL2b gene were obtained by directed cloning and gene transfection technology. The expression of pEGFP-N1–CFL2b were detected using GFP fluorescence and Western Blotting. The expression level of myosin heavy chain (MyHC) isoforms (2x.2b and slow) in C2C12 were determined using Real-time PCR. Result showed that MyHC 2x gene and MyHC 2b genes were obviously up-regulated, MyHC1/slow gene not significant. The research indicated porcine CFL2b gene correlated to muscle fiber trait. And it was associated with pork quality. Porcine CFL2b gene can possible be regarded as a candidate gene for pork quality [Acta Zoologica Sinica 54(6): 1014–1019, 2008].
Identification of cellular genes showing differential expression associated with hepatitis B virus infection
Yasuo Fukuhara,Takeshi Suda,Makoto Kobayashi,Yasushi Tamura
World Journal of Hepatology , 2012, DOI: 10.4254/wjh.v4.i4.139
Abstract: AIM: To investigate the impact of hepatitis B virus (HBV) infection on cellular gene expression, by conducting both in vitro and in vivo studies. METHODS: Knockdown of HBV was targeted by stable expression of short hairpin RNA (shRNA) in huH-1 cells. Cellular gene expression was compared using a human 30K cDNA microarray in the cells and quantified by real-time reverse transcription-polymerase chain reaction (RT-PCR) (qRT-PCR) in the cells, hepatocellular carcinoma (HCC) and surrounding non-cancerous liver tissues (SL). RESULTS: The expressions of HBsAg and HBx protein were markedly suppressed in the cells and in HBx transgenic mouse liver, respectively, after introduction of shRNA. Of the 30K genes studied, 135 and 103 genes were identified as being down- and up-regulated, respectively, by at least twofold in the knockdown cells. Functional annotation revealed that 85 and 62 genes were classified into four up-regulated and five down-regulated functional categories, respectively. When gene expression levels were compared between HCC and SL, eight candidate genes that were confirmed to be up- or down-regulated in the knockdown cells by both microarray and qRT-PCR analyses were not expressed as expected from HBV reduction in HCC, but had similar expression patterns in HBV- and hepatitis C virus-associated cases. In contrast, among the eight genes, only APM2 was constantly repressed in HBV non-associated tissues irrespective of HCC or SL. CONCLUSION: The signature of cellular gene expression should provide new information regarding the pathophysiological mechanisms of persistent hepatitis and hepatocarcinogenesis that are associated with HBV infection.
Association of deletion allele of insertion/deletion polymorphism in α2B adrenoceptor gene and hypertension with or without type 2 diabetes mellitus
Tayel SI, Khader HF, El-Helbawy NG, Ibrahim WA
The Application of Clinical Genetics , 2012, DOI: http://dx.doi.org/10.2147/TACG.S33814
Abstract: ssociation of deletion allele of insertion/deletion polymorphism in α2B adrenoceptor gene and hypertension with or without type 2 diabetes mellitus Original Research (947) Total Article Views Authors: Tayel SI, Khader HF, El-Helbawy NG, Ibrahim WA Published Date December 2012 Volume 2012:5 Pages 111 - 118 DOI: http://dx.doi.org/10.2147/TACG.S33814 Received: 11 May 2012 Accepted: 07 August 2012 Published: 04 December 2012 Safaa I Tayel,1 Heba F Khader,1 Nesreen G El-Helbawy,1 Waleed A Ibrahim2 1Department of Medical Biochemistry, 2Department of Cardiology, Faculty of Medicine, Menoufiya University, Shebin Elkom, Egypt Background: Vascular α2B-adrenoreceptors have the potential to increase blood pressure by mediating vasoconstriction. A nine-nucleotide deletion in the receptor enhances vasoconstriction and exacerbates hypertension. The aim of this study was to determine the association between insertion/deletion (I/D) polymorphism of the α2B-adrenoceptor and hypertension with and without diabetes. Methods: The study was carried out in 35 hypertensive patients with diabetes, 35 hypertensive patients without diabetes, and 30 healthy controls. Clinical data, blood lipid profiles, and I/D polymorphism were assessed. Results: Hypertensive patients were significantly older, with significantly higher systolic/diastolic blood pressures and worse plasma lipid profiles than controls. The frequency of the DD genotype was significantly higher in both hypertensive patients with (77.14%, P < 0.01) and without (71.43%, P < 0.05) diabetes versus controls (40%). Also, the D allele was significantly more common in both hypertensive patients with (84.29%, P < 0.01) and without (80%, P < 0.05) diabetes versus controls (58.33%). Hypertensive patients were more likely to have the D allele with (3.83-fold) and without (2.85-fold) diabetes. The frequencies of the DD genotype and the D allele were not significantly (P > 0.05) different between the patient groups. The DD genotype was associated with significantly lower high-density lipoprotein (P = 0.001) and significantly higher low-density lipoprotein (P = 0.017) levels versus the II and ID genotypes in the hypertensive group without diabetes. Conclusion: A marked and statistically significant association between DD genotype and D allele of I/D polymorphism in the α2B-adrenoceptor gene may be a risk factor for hypertension ± diabetes. The association between the DD genotype and dyslipidemia may partially explain its role in precipitating hypertension.
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