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Single nucleotide

Monozygotic twins with NASH cirrhosis: cumulative effect of multiple single nucleotide polymorphisms?

Monozygotic twins with NASH cirrhosis: cumulative effect of multiple single nucleotide polymorphisms?

... multiple single nucleotide polymorphisms at 9 independent loci in genes PNPLA3, APOC3, GCKR, TRIB1, LYPLAL1, PPP1R3B, COL13A1, and EFCAB4B, previously implicated in contributing to non-alcoholic ...

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Association of single nucleotide polymorphisms in Pre miR 27a, Pre miR 196a2, Pre miR 423, miR 608 and Pre miR 618 with breast cancer susceptibility in a South American population

Association of single nucleotide polymorphisms in Pre miR 27a, Pre miR 196a2, Pre miR 423, miR 608 and Pre miR 618 with breast cancer susceptibility in a South American population

... has been observed in the development and progression of nu- merous human cancers [19–21]. Single nucleotide poly- morphisms (SNPs) are the most common type of variation in the human genome. SNPs present in ...

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TítuloA single nucleotide polymorphism in the Il17ra promoter is associated with functional severity of ankylosing spondylitis

TítuloA single nucleotide polymorphism in the Il17ra promoter is associated with functional severity of ankylosing spondylitis

... Bioscope version 1.3 was used to map and pair the reads to the NCBI human genome refer- ence (hg19, GRCh37). Single nucleotide variants (SNVs) and indels were selected for subse- quent analysis by the ...

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TítuloMachine Learning Techniques for Single Nucleotide Polymorphism—Disease Classification Models in Schizophrenia

TítuloMachine Learning Techniques for Single Nucleotide Polymorphism—Disease Classification Models in Schizophrenia

... Quantitative Structure - Activity Relationships (QSARs) are widely used for predicting protein properties [26] and Quantitative Protein (or Proteome)-Disease Relationships (QPDRs) [27-33] for disease prediction. Recent ...

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Allele-specific polymerase chain reaction for the detection of Alzheimer ’s disease-related single nucleotide polymorphisms

Allele-specific polymerase chain reaction for the detection of Alzheimer ’s disease-related single nucleotide polymorphisms

... Background: The incidence of Alzheimer ’ s disease, particularly in developing countries, is expected to increase exponentially as the population ages. Continuing research in this area is essential in order to better ...

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Functional and evolutionary implications of single nucleotide substitutions in human microRNAs across primates

Functional and evolutionary implications of single nucleotide substitutions in human microRNAs across primates

... Comparative studies carried out in metazoans have found that miRNAs differ from other genetic entities in three characteristics. First, they present remarkable sequence conservation. When Drosophila melanogaster miRNAs ...

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Dectin-1 and DC-SIGN polymorphisms associated with invasive pulmonary Aspergillosis infection.

Dectin-1 and DC-SIGN polymorphisms associated with invasive pulmonary Aspergillosis infection.

... of single nucleotide polymorphisms (SNPs) within DC-SIGN, Dectin-1, Dectin-2, CCL2 and CCR2 genes influence the risk of developing Invasive Pulmonary Aspergillosis ...

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PARK2 polymorphisms predict disease progression in patients infected with hepatitis C virus

PARK2 polymorphisms predict disease progression in patients infected with hepatitis C virus

... It is well established that in addition to viral genotype, viral load and environmental factors, variations in host ge- netics strongly influence the disease outcome associated with HCV infection. Single ...

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Effect of the polymorphism BDNF rs6265 G/A in Mexican outpatient children with autism spectrum disorders

Effect of the polymorphism BDNF rs6265 G/A in Mexican outpatient children with autism spectrum disorders

... sociated with rs6265 (Raznahan et al, 2009). Other studies that have evaluated the association of this polymorphism and ASD have been studied in different populations. Yoo et al. (2014) conducted a family-based study ...

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A New Subhaplogroup of Native American Y Chromosomes from the Andes

A New Subhaplogroup of Native American Y Chromosomes from the Andes

... new single nucleotide polymorphisms (SNPs) and increase the phy- logenetic resolution of the major haplogroup Q found in the Americas, we have performed a search for new poly- morphisms based on sequencing ...

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Genetic Variations in the TP53 Pathway in Native Americans Strongly Suggest Adaptation to the High Altitudes of the Andes

Genetic Variations in the TP53 Pathway in Native Americans Strongly Suggest Adaptation to the High Altitudes of the Andes

... five single nucleotide polymorphisms located in genes of the TP53 path- way ( TP53 , rs1042522; MDM2 , rs2279744; MDM4 , rs1563828; USP7 , rs1529916; and LIF , rs929271) were studied in a total of 282 ...

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Noncoding Genomics in Gastric Cancer and the Gastric Precancerous Cascade: Pathogenesis and Biomarkers

Noncoding Genomics in Gastric Cancer and the Gastric Precancerous Cascade: Pathogenesis and Biomarkers

... the multifactorial origin of gastric cancer [17]. Environmental factors, such as smoking and alcohol consumption [18], also play an important role in gastric carcinogenesis. In spite of these long-term recognized ...

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Polimorfismos en el gen de la y-glutamil hidrolasa y respuesta al metotrexato en leucemia linfoblástica aguda en México

Polimorfismos en el gen de la y-glutamil hidrolasa y respuesta al metotrexato en leucemia linfoblástica aguda en México

... as single nucleotide polymorphisms (SNPs) in genes encoding proteins and enzymes involved in the transport and metabolism of drugs, which have been associated with differences in the response to ...

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TítuloMitochondrial DNA haplogroup H as a risk factor for idiopathic dilated cardiomyopathy in Spanish population

TítuloMitochondrial DNA haplogroup H as a risk factor for idiopathic dilated cardiomyopathy in Spanish population

... Human mitochondrial DNA (mtDNA) encodes 37 genes, but only 13 of these genes are transcripted into 13 polypeptides. They constitute essential subunits of the mitochondrial oxidative phosphorylation enzyme complexes, ...

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hAGT inhibitors as chemotherapy enhancers

hAGT inhibitors as chemotherapy enhancers

... 2.2.2. Single-molecule reaction: Single-molecule studies are crucial to understand the trajectories of molecules as they un- dergo ...considered single- molecule reactions, for example RNA ...

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TRAIL/TRAIL Receptor System and Susceptibility to Multiple Sclerosis

TRAIL/TRAIL Receptor System and Susceptibility to Multiple Sclerosis

... whether single-nucleotide polymorphisms (SNPs) in the human genes encoding TRAIL, TRAILR-1, TRAILR-2, TRAILR-3 and TRAILR-4 are associated with MS susceptibility, we performed a candidate gene case-control ...

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TítuloPopulation genetic analysis of "Ensis directus" unveils high genetic variation in the introduced range and reveals a new species from the NW Atlantic

TítuloPopulation genetic analysis of "Ensis directus" unveils high genetic variation in the introduced range and reveals a new species from the NW Atlantic

... of nucleotide substitution was implemented, and 1000 automatic bootstraps were performed, followed by a search for the best-scoring ML ...of nucleotide substitution, 1,000 non-parametric bootstraps, and ...

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Application of genome-wide single-nucleotide polymorphism arrays to understanding dog disease and evolution

Application of genome-wide single-nucleotide polymorphism arrays to understanding dog disease and evolution

... no single SNP was found to be reliably predictive, there was significant predictive value of the genomic data through using the genomic evaluation as proposed by Meuwissen et ...

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The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis

The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis

... representative single-nucleotide polymorphism (SNP) of each block (rs10488631, rs2004640, and rs4728142) in a total of 3,361 SSc patients and 4,012 unaffected controls of Caucasian origin from Spain, ...

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Association of IL4Rsingle nucleotide polymorphisms with rheumatoid nodules in African Americans with rheumatoid arthritis

Association of IL4Rsingle nucleotide polymorphisms with rheumatoid nodules in African Americans with rheumatoid arthritis

... It has been suggested that interleukin-4 (IL-4) and its receptor, encoded by IL4R, could play a role in the patho- genesis of RA [8,10] because diminished production of IL- 4 may contribute to the T H 1-mediated ...

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