[PDF] Top 20 Identification of functional single nucleotide polymorphisms in the branchpoint site
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Identification of functional single nucleotide polymorphisms in the branchpoint site
... tain branchpoint A still produces the normally spliced form, we checked the nearby intron sequence and found two other As located at the seventh and eighth nucleotides from the branchpoint A ...the ... See full document
6
Identification of haplotype tag single nucleotide polymorphisms within the nuclear factor κB family genes and their clinical relevance in patients with major trauma
... the functional polymorphism rs28362491 (also known as the −94 insertion/deletion ATTG polymorphism in the promoter of NFKB1) was not shown to be associated with risk of sepsis and MODS in our ... See full document
9
Bovine leukemia virus long terminal repeat variability: identification of single nucleotide polymorphisms in regulatory sequences
... In our work, we investigated possible natural selection over the entire BLV LTR sequence, as well as particular regions of the LTR (U3, R and U5), from 64 new BLV isolates and found evidence of negative selection for ... See full document
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Functional properties of the HIV 1 long terminal repeat containing single nucleotide polymorphisms in Sp site III and CCAAT/enhancer binding protein site I
... transcription elongation factor, as previously reviewed [45]. In addition, in the absence of functional Sp sites, NF- κB binding to the enhancer region of the LTR can result in alteration in viral replication in T ... See full document
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Identification of three single nucleotide polymorphisms in Anopheles gambiae immune signaling genes that are associated with natural Plasmodium falciparum infection
... Additional analyses revealed that MKK43, a SNP in the MAPK kinase MKK4 gene, located on chromosome 2, was in linkage disequilibrium with infection-associated Toll5B1, a SNP on chromosome 3, in the S1 population (p = ... See full document
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Prediction of Structural and Functional Effects of Single Nucleotide Polymorphisms in NAT2gene, a Computational Analysis
... genetic polymorphisms, which is associated with the risk of developing cancer due to the change of normally fast acetylation of substrates to slow ...assessed single nucleotide polymorphisms ... See full document
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Genome-wide identification and analysis of miRNA-related single nucleotide polymorphisms (SNPs) in rice
... target site perturbs the normal miR156-SPL14 interaction, and thereby leading to producing improved plant architec- ture (Jiao et ...and functional strand ... See full document
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IMP PCR primers detect single nucleotide polymorphisms for Anopheles gambiae species identification, Mopti and Savanna rDNA types, and resistance to dieldrin in Anopheles arabiensis
... species identification was similar to that of Scott et ...species identification (Table 2) compare favorably to the products we obtain with the Scott et ...species identification except incorporating ... See full document
7
Detection of Single Nucleotide Polymorphisms
... repeat polymorphisms (SSRPs), the highly informative microsatellite markers, were much more easily developed by probing genomic libraries with synthetic oligonucleotides bearing the simple sequence repeat motifs ... See full document
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Modeling single nucleotide polymorphisms in the human AKR1C1 and AKR1C2 genes: implications for functional and genotyping analyses
... from single nucleotide polymorphisms (SNPs) in the AKR1C2 gene, on the enzyme kinetics of the AKR1C2 gene product were determined experimentally by Takashi et ...the site of cofactor ...active ... See full document
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The Association of Functional Single Nucleotide Polymorphisms of the RBP4 Gene with Gene Expression and Insulin Resistance Risk
... The rs3758358 displayed significant difference in genotype frequencies between tested groups. The C allele seems to occur in higher frequency in type 2 diabetes patients comparing to controls. However, there was no ... See full document
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IDENTIFICATION OF FUNCTIONAL SNPs OF MDR1 GENE AMONG NEPHROTIC SYNDROME CHILDREN IN SOUTH INDIA
... gene polymorphisms can alter the drug transport function of P-gp and are often associated with resistance to vast of the drugs, results treatment ...MDR-1 polymorphisms at 1236, 2677, and 3435 positions ... See full document
5
Novel single-nucleotide polymorphisms in the calsequestrin-1 gene are associated with Graves’ ophthalmopathy and Hashimoto’s thyroiditis
... Equally important is identifying microRNAs regulatory pathways affecting translation of CASQ1 gene constructs with and without rs3838216 and rs2275703 polymorphisms. These CASQ1 gene constructs will also enable us ... See full document
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Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population
... potentially functional single nucleotide polymorphisms (SNPs) that are biologically plausible risk factors for NTDs but that have never been investigated for an association with NTDs, examined ... See full document
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Picking single nucleotide polymorphisms in forests
... high-throughput single-nucleotide polymorphism (SNP) technologies, the vast number of SNPs in smaller samples poses a challenge to the application of classical statistical ... See full document
5
Low apolipoprotein M serum levels correlate with Systemic lupus erythematosus disease activity and apolipoprotein M gene polymorphisms with Lupus
... In this study, functional single-nucleotide polymorphisms (SNPs) in the promoter region of APOM did not show a correlation with SLE risk.However, serum APOM levels were decreased in pati[r] ... See full document
6
Evaluation of functional genetic variants at 6q25 1 and risk of breast cancer in a Chinese population
... As an extension of our previous studies, in the present study we evaluated potentially functional SNPs of ESR1 in a larger sample size comprising 1,064 cases and 1,073 controls. We found significant associations ... See full document
9
Network analysis of single nucleotide polymorphisms in asthma
... No single database alone can provide such a connected network; in order to understand the new systems levels of diseases, we decided to build up an integrated data warehouse combining information from several ... See full document
10
Original Article Identification of novel single nucleotide polymorphisms in androgen receptor gene in two families with complete androgen insensitivity syndrome
... Abstract: The present study aimed to identify novel mutations in androgen receptor (AR) gene associated with complete androgen insensitivity syndrome (AIS). Genome DNA was extracted from peripheral blood of 35 suspected ... See full document
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Single nucleotide polymorphisms and disease gene mapping
... 4. Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, Sherry S, Mullikin JC, Mortimore BJ, Willey DL, Hunt SE, Cole CG, Coggill PC, Rice CM, Ning Z, Rogers J, Bentley DR, Kwok PY, Mardis ER, Yeh RT, ... See full document
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