Gene Variants
Annotation of Human Exome Gene Variants with Consensus Pathogenicity
... mutation variants, in silico approaches can be ...Nucleotide Variants (SNVs) in the human coding genome were annotated using consensus Variant Effect Prediction (cVEP) ...Adding gene indispensability ...
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Association of Homeobox B13 (HOXB13) Gene Variants with Prostate Cancer Risk in Iranian Population
... Investigation of PCa tissue samples demonstrated that four ( ) cases had single nucleotide variation in exon . Among them, two cases had the both synonymous c. C > T (rs ) and c. T > C (rs ) variants and two ...
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Hepatitis B surface gene variants isolated from blood donors with overt and occult HBV infection in north eastern Egypt
... Data regarding the amino acid changes of HBsAg in Egypt, particularly in the general population, are scarce. Variations in the alpha determinant region were ob- served in 37.8 % of strains isolated from HBsAg-positive ...
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Protein Z gene variants and risk of Idiopathic Recurrent Pregnancy Loss in Saudi Arabian women
... PZ gene is located on chromosome 13 in the region 13q34 and it is highly polymorphic (Bafunno et al, ...PZ gene are located at the major transcription site -103 A/G (rs3024718), -119 T/A (rs3024731) -475 ...
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Gene variants within the COL1A1 gene are associated with reduced Anterior Cruciate
... Conclusions: Higher frequency of the COL1A1 G-T haplotype is associated with reduced risk of 17.. ACL injury in a group of professional soccer players.[r] ...
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<p>Two novel variants in the <em>TCF12</em> gene identified in cases with craniosynostosis</p>
... date, variants in over 70 different genes have been associated with the expression of ...nucleotide variants, which were evaluated as pathogenic according to the current guidelines for interpreting sequence ...
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Gene-nutrient interactions and susceptibility to human obesity
... susceptibility gene variants inter- acting with an obesogenic environment to increase obes- ity, James ...of gene variants has occurred dur- ing human evolution to optimize efficient storage ...
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Coming to Grips with Evolvability
... with gene variants that eventually took over the population, with the fitness of two other contemporary clones that lacked the particular variants and went extinct in the original experiment (Woods ...
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Rapid and Easy In Silico Serotyping of Escherichia coli Isolates by Use of Whole Genome Sequencing Data
... O128ab/ac variants were indistinguishable by Serotype- Finder, which predicted O group O128 ...ac variants clus- tered closely together for both wzx and ...ab/ac variants were highly identical, and ...
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Estimated prevalence of potentially damaging variants in the leptin gene
... leptin gene variants with either proven or suggested functional disturbance have been described in the literature (see Additional file 1: Table S2) [1–19, 21, 22, ...leptin gene with the help of the ...
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Genetic association of deleted in colorectal carcinoma variants with breast cancer risk: A case-control study
... rs2229080 polymorphism, we found that C/G, C/C, and C/G-CC genotype carriers had a significantly increased risk of developing BC (OR > 1, P < 0.05); the same trend was observed for patients with the C allele (P = ...
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SNPs in FNDC5 (irisin) are associated with obesity and modulation of glucose and lipid metabolism in Saudi subjects
... All the analyzed SNPs (rs3480, rs1746661, rs1570569 and rs1298190) were in Hardy-Weinberg equilibrium in our population (p > 0.05) except rs726344. The role of these common FNDC5 gene variants in ...
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Screening for variants in the MUTYH gene in Saudis
... MUTYH gene variants in Saudis to investigate the possible role of these variants in increasing the sus- ceptibility to cancer and to compare the results with re- ported frequencies of this ...
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THE USE OF SNPS IN PHARMACOGENOMICS STUDIES
... The broadly familial nature of complex diseases clearly indicates a significant genetic component. However, in contrast to monogenic conditions, this genetic element is comprised of multiple gene variants ...
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Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve
... Animal models of BAV suggest a possible genotype- phenotype correlation related to cusp fusion phenotypes. However, our data does not support such a correlation in regards to cusp fusion, nor was there a correlation for ...
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Identification of deleterious and regulatory genomic variations in known asthma loci
... genetic variants previ- ously correlated with asthma may not represent the true causative ...candidate gene studies are not causal but are genetic markers that tag causal variants ...of ...
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Association of cdh13 (rs7200009) gene polymorphism with essential hypertension in south Indian population
... Hypertension (HT) is the most prevalent, complex quantitative trait which is characterized by chronic increase in the blood pressure. High blood pressure is one of the known risk factor for stroke, ge renal and ...
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Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3
... To understand the genotype-structure-phenotype differences displayed by ATP1A2 and ATP1A3 and by mild and severe ATP1A3 mutations, we postulate a gain-of-function defect in the severe mutations. Certain mutations of ...
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Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations
... unclassified variants because their disease causing potential has not been clearly verified until ...these variants by usage of different prediction programs showed that all three variants are ...
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Analysis of circadian clock gene BMAL1 in Pakistani
... cataract families to identify the novel pathogenic variants in the BMAL1 gene.. We have studied 21.[r] ...
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