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作者:Mona Shams Aldeen S
来源:[J].JSM Bioinformatics, Genomics and Proteomics, 2016, Vol.1 (1)JSciMed Central Journals
摘要:... This study was focused on the effect of nonsynonymous single nucleotide polymorphisms in the function and structure of RAG1& RAG2 genes using In silico analysis. Only nsSNPs and 3’UTR SNPs were selected for computational analysis. Predictions of deleterious nsSNPs were ...
作者:Phani Nagaraja M , Acharya Shreeshakala , Xavy Seethu ...
来源:[J].Gene, 2014, Vol.536 (2), pp.247-53PubMed
摘要:... Functional effects of non-synonymous SNPs (nsSNPs) in KCNJ10 gene were analyzed using SIFT PolyPhen-2, I-Mutant 2.0, PANTHER and FASTSNP. Subsequently, homology modeling of protein three dimensional (3D) structures was performed using Modeller tool (9.10v) and compared t...
作者:de Parseval Nathalie , Diop Gora , Blaise Sandra ...
来源:[J].BMC Genomics(IF 4.397), 2005, Vol.6 (1), pp.117DOAJ
摘要:... Genomic analyses reveal strong sequence conservation (only two non synonymous Single Nucleotide Polymorphisms [SNPs]) for the two HERV-W and HERV-FRD envelope genes, i.e. for the two genes specifically expressed in the placenta and possibly involved in syncytiotrophoblast f...
作者:Aude Deschuyteneer , Mélanie Boeckstaens , Christelle De Mees ...
来源:[J].PLoS ONE(IF 3.73), 2017, Vol.8 (8)DOAJ
摘要:... We used a yeast-based expression assay to characterize human Rh variants resulting from non synonymous single nucleotide polymorphisms (nsSNPs) with known or unknown clinical phenotypes and assessed their ammonium transport efficiency, protein level, localization and potentia...
作者:Vasilescu Alexandre , Helle François , Blaise Sandra ...
来源:[J].BMC Genomics(IF 4.397), 2005, Vol.6 (1)DOAJ
摘要:... Genomic analyses reveal strong sequence conservation (only two non synonymous Single Nucleotide Polymorphisms [SNPs]) for the two HERV-W and HERV-FRD envelope genes, i.e. for the two genes specifically expressed in the placenta and possibly involved in syncytiotrophoblast f...
作者:Chakradhara Rao Uppugunduri Satyanarayana , Anichavezhi Devendran , Rajan Sundaram ...
来源:[J].Drug Metabolism and Pharmacokinetics(IF 2.071), 2009, Vol.24 (2), pp.185-193Elsevier
摘要:... This study aims to identify the genetic polymorphisms and construction of haplotypes of variations in 5' regulatory region of CYP2C19 among the South Indian population. CYP2C19 5 ´ regulatory region was amplified and sequenced from the DNA of 58 healthy volunteers of South...
作者:Aude Deschuyteneer , Mélanie Boeckstaens , Christelle De Mees ...
来源:[J].PLOS ONE(IF 3.73), 2013, Vol.8 (8)PLOS
摘要:... We used a yeast-based expression assay to characterize human Rh variants resulting from non synonymous single nucleotide polymorphisms (nsSNPs) with known or unknown clinical phenotypes and assessed their ammonium transport efficiency, protein level, localization and potentia...
作者:de Parseval Nathalie , Diop Gora , Blaise Sandra ...
来源:[J].BMC genomics(IF 4.397), 2005, Vol.6, pp.117PubMed
摘要:... Genomic analyses reveal strong sequence conservation (only two non synonymous Single Nucleotide Polymorphisms [SNPs]) for the two HERV-W and HERV-FRD envelope genes, i.e. for the two genes specifically expressed in the placenta and possibly involved in syncytiotrophoblast for...
作者:Deschuyteneer Aude , Boeckstaens Mélanie , De Mees Christelle ...
来源:[J].PloS one(IF 3.73), 2013, Vol.8 (8), pp.e71092PubMed
摘要:... We used a yeast-based expression assay to characterize human Rh variants resulting from non synonymous single nucleotide polymorphisms (nsSNPs) with known or unknown clinical phenotypes and assessed their ammonium transport efficiency, protein level, localization and potentia...
作者:Satyanarayana Chakradhara Rao Uppugunduri , Devendran Anichavezhi , Sundaram Rajan ...
来源:[J].Drug metabolism and pharmacokinetics, 2009, Vol.24 (2), pp.185-93PubMed
摘要:... This study aims to identify the genetic polymorphisms and construction of haplotypes of variations in 5' regulatory region of CYP2C19 among the South Indian population. CYP2C19 5' regulatory region was amplified and sequenced from the DNA of 58 healthy volunteers of South Ind...

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