Genetic variants

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Lack of association between the protein tyrosine phosphatase non-receptor type 22 R263Q and R620W functional genetic variants and endogenous non-anterior uveitis.

Lack of association between the protein tyrosine phosphatase non-receptor type 22 R263Q and R620W functional genetic variants and endogenous non-anterior uveitis.

... functional variants R263Q and R620W of the PTPN22 gene in the pathophysiology of endog- enous non-anterior uveitis in a well-defined ...both genetic positions or, alternatively, in only ...analyzed ...

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Gender-Specific Effects of Genetic Variants within Th1 and Th17 Cell-Mediated Immune Response Genes on the Risk of Developing Rheumatoid Arthritis.

Gender-Specific Effects of Genetic Variants within Th1 and Th17 Cell-Mediated Immune Response Genes on the Risk of Developing Rheumatoid Arthritis.

... that genetic factors have an impact on the predisposition to RA is well supported by our understanding of the disease biology and by data from a wide range of genetic epidemiologic studies ...that ...

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Association study of genetic variants of pro-inflammatory chemokine and cytokine genes in systemic lupus erythematosus

Association study of genetic variants of pro-inflammatory chemokine and cytokine genes in systemic lupus erythematosus

... Regulated upon activation, normal T cell expressed and secreted (RANTES), interleukin 8 (IL-8) and monocyte chemoattractant protein-1 (MCP-1) are involved in the physiology and pathophysiology of acute and chronic ...

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Lack of validation of genetic variants associated with anti-tumor necrosis factor therapy response in rheumatoid arthritis: a genome-wide association study replication and meta-analysis.

Lack of validation of genetic variants associated with anti-tumor necrosis factor therapy response in rheumatoid arthritis: a genome-wide association study replication and meta-analysis.

... the genetic variants mapped within genes, PDZ domain-containing 2 (PDZD2) and eyes absent homolog 4 (EYA4), and two polymorphisms mapped to intergenic regions on chromosomes 1 and ...

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Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility

Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility

... CFH, CFHR3, CFHR1, CFHR4, CFHR2 and CFHR5, that present in tandem as a gene cluster located in human chromosome 1q32, are positional candidate genes within the 1q31-32 genomic region linked to SLE [12,13]. In recent ...

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Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition.

Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition.

... the IL2RA rs2104286 polymorphism has been associated with intermediate uveitis [39]. When we evaluated whether the studied genetic variants were involved in the different uveitis forms we did not observe ...

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Mannose binding lectin and its genetic variants

Mannose binding lectin and its genetic variants

... allele had a frequency of 0.05 in both East Africans and Caucasians, but as for the C allele it was virtually absent in Asians and in Inuits and even in West Africans. The D allele also had a decreasing effect on the ...

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Genetic variants in the PPARD-PPARGC1A-NRF-TFAM mitochondriogenesis pathway are neither associated with muscle characteristics nor physical performance in elderly

Genetic variants in the PPARD-PPARGC1A-NRF-TFAM mitochondriogenesis pathway are neither associated with muscle characteristics nor physical performance in elderly

... The results of our study could be overall valid, as all the following criteria were met (Attia, Ioannidis, Thakkinstian, McEvoy, Scott, Minelli, Thompson, Infante-Rivard & Guyatt, 2009): phenotypes were accurately ...

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Genetic variants associated with addictive behavior in Colombian addicted and non addicted to heroin or cocaine

Genetic variants associated with addictive behavior in Colombian addicted and non addicted to heroin or cocaine

... nucleotides were removed by adding 2 uL of ExoSAP-IT (Amers- ham Pharmacia) according to manufacturer´s instructions. Using this pre-amplification product as template, were carried out reac- tions for the detection of ...

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Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis

Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis

... The analysis was performed as follows. First, by the use of logistic regression following adjustments for smoking and sex, each marker allele was tested to determine whether homozygosity had a differ- ent effect from ...

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Deciphering breast cancer intertumor heterogeneity: tumor subtyping and analysis of germline genetic variants

Deciphering breast cancer intertumor heterogeneity: tumor subtyping and analysis of germline genetic variants

... germline genetic variants that influence metastasis, mainly because of the lack of power of traditional genome-wide association studies (GWAS) to detect relevant variants underlying complex ...

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A closer look at the history and genetics of Tourette syndrome

A closer look at the history and genetics of Tourette syndrome

... optimize genetic studies in TS is to analyze polymorphisms that are potentially ...traits. Genetic variants with significant functional effect are most likely related to an amino acid substitution in ...

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Genetic polymorphism in goat. Study of the kappa casein, the betalactlobulin and the coenzyme a desaturasegenes

Genetic polymorphism in goat. Study of the kappa casein, the betalactlobulin and the coenzyme a desaturasegenes

... Kappa casein is also the only glycosylated member of casein group. Glycosylation occurs during the post-translational modification and is catalyzed by O-glycosyl transferases within the Golgi apparatus of mammary ...

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Genetic and environmental factors in asthma: a population based European study

Genetic and environmental factors in asthma: a population based European study

... the genetic structure and etiology of complex diseases (Khoury et ...reveal genetic factors whose effect are only perceptible under an environmental exposure and, inversely, environmental risk factors that ...

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Genetic regulation of the antibody response to the parasite Ascris spp

Genetic regulation of the antibody response to the parasite Ascris spp

... In the CGA cohort, total IgE was determined in duplicate using an enzyme-linked immuno- sorbent assay (ELISA) kit (RIDASCREEN; R-Biopharm, Darmstadt, Germany) according to the manufacturer’s instructions. Specific IgE to ...

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SNPs in bone-related miRNAs are associated with the osteoporotic phenotype

SNPs in bone-related miRNAs are associated with the osteoporotic phenotype

... Biogenesis and function of microRNAs can be influenced by genetic variants in the pri-miRNA sequences leading to phenotypic variability. This study aims to identify single nucleotide polymorphisms (SNPs) ...

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'Smoking Genes': A Genetic Association Study RID A-9914-2012

'Smoking Genes': A Genetic Association Study RID A-9914-2012

... that genetic variants that can influence nicotine metabolization (mainly, CYP2A6 polymor- phisms) are those showing the strongest association with smoking status and smoking-related ...those genetic ...

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Variantes genticas de CYP1A1, CYP1B1, GSTM1 y GSTT1, y riesgo de cncer mamario en mujeres mexicanas

Variantes genticas de CYP1A1, CYP1B1, GSTM1 y GSTT1, y riesgo de cncer mamario en mujeres mexicanas

... if variants in the genes CYP1A1 (T3801C and A4889G), CYP1B1 (G119T), GSTM1 (indel) and GSTT1 (indel) are associated with breast cancer (BC) among Mexican ...controls. Genetic variants in genes ...

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TítuloGWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

TítuloGWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

... causal variants overlapped with promoter and enhancer histone marks in the cell types ...the genetic variations involved in the susceptibility to SSc modulate transcriptional regulatory ...found ...

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Epidemiologa molecular del virus de la Fiebre Amarilla

Epidemiologa molecular del virus de la Fiebre Amarilla

... four genetic variants (genotypes) of YF virus, of which three were found in Africa and the other was the South American strain from Peru that had been sequenced by Ballinger- Crabtree and ...the ...

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