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SpringerLink电子期刊(11)

Elsevier电子期刊(36)

在“Elsevier电子期刊”中，命中：36条，耗时：小于0.01 秒

在所有数据库中总计命中：47条

1.Computational analysis of nsSNPs of NPHS1 gene and their effect on protein structural stability

作者：Bhoomi B. Joshi ; Kinnari N. Mistry ; ^{kinnarimistry@aribas.edu.in} ; ^{kinnarinmistry@yahoo.com}

关键词：NPHS1 ; nephrosis-1-congenital ; finish type ; SNP ; single nucleotide polymorphisms ; SIFT ; sorting intolerant from tolerant ; PROVEAN ; protein variation effect ANalyzer ; nsSNP ; non-synonymous single nucleotide polymorphism ; PYMOL ; project molecular and cellular biology ; QMEAN ; qualitative model energy analysis ; FSGS ; focal segmental glomerulosclerosis ; SRNS ; steroid resistance nephrotic syndrome ; PPI ; protein-protein interaction

刊名：Meta Gene

出版年：2017

2.Status and future perspectives of single nucleotide polymorphisms (SNPs) markers in farmed fishes: Way ahead using next generation sequencing

作者：Kiran Dashrath Rasal^a ; ^{kirancife@gmail.com} ; ^{Kiran.Rasal@icar.gov.in} ; Vemlawada Chakrapani^a ; Amrendra Kumar Pandey^a ; Avinash Rambhau Rasal^a ; Jitendra K. Sundaray^a ; Arun Ninawe^b ; Pallipuram Jayasankar^a

关键词：SNP ; single nucleotide polymorphism ; QTL ; quantitative trait loci ; NGS ; next generation sequencing ; ESTs ; expressed sequence tags ; GATK ; Genome Analysis Toolkit ; SSCP ; single strand conformation polymorphism ; GBS ; Genotyping-by-sequencing ; SIFT ; Sorting Intolerant from Tolerant ; nsSNPs ; non-synonymous single nucleotide polymorphisms ; AASs ; amino acid substitutions ; PROVEAN ; Protein Variation Effect Analyzer ; PDB ; Protein Data Bank

刊名：Gene Reports

出版年：2017

3.Computational prediction of the effects of non-synonymous single nucleotide polymorphisms in the human Quinone Oxidoreductase 1 (NQO1)

作者：Hidam Bishworjit Singh ^{hidam_bishworjit@yahoo.com} ; Dristi Deka ^{dristideka628@gmail.com} ; Dhiramani Das ^{dhiramanidas@rocketmail.com} ; Debasish Borbora ; ^{Debasish.borbora@gauhati.ac.in}

关键词：SNP ; Single nucleotide polymorphisms ; nsSNPs ; Non-synonymous SNPs ; NQO1 ; NAD(P)H Quinone Oxidoreductase 1 ; SIFT ; Sorting Intolerant from Tolerant ; PolyPhen ; phenotype polymorphism ; ROVEAN ; Protein Variation Effect Analyzer ; PDB ; Protein Data Bank ; GDT ; global distance test ; uGDT ; un-normalized GDT ; RMSD ; root mean squared deviation ; QMEAN ; Qualitative Model Energy Analysis ; ProSA ; Protein Structure Analysis ; UCSF ; University of California ; San Francisco

刊名：Meta Gene

出版年：2017

4.Classification and structural analyses of mutational landscapes in hemochromatosis factor E protein: A protein defective in the hereditary hemochromatosis

作者：Mohd. Shahbaaz^a ; ¹ ; Safikur Rahman^b ; ¹ ; Parvez Khan^c ; Jihoe Kim^b ; ^{kimjihoe@ynu.ac.kr} ; Md. Imtaiyaz Hassan^c ; ^{mihassan@jmi.ac.in}

关键词：HH ; hereditary hemochromatosis ; HFE ; Hereditary Hemochromatosis Factor E ; MHC ; major histocompatibility complex ; RMSD ; Root Mean Square Deviations ; Rg ; Radius of Gyration ; RMSF ; Root Mean Square Fluctuations ; SASA ; Solvent Accessible Surface Area ; SVM ; Support Vector Machine ; SIFT ; Sorting Intolerant From Tolerant

刊名：Gene Reports

出版年：2017

5.ARHGAP4 mutated in a Chinese intellectually challenged family

作者：Fuhua Liu^a ; ^b ; ¹ ; Hui Guo^c ; ¹ ; Minglin Ou^a ; Xianliang Hou^a ; Guoping Sun^d ; Weiwei Gong^a ; Huanyun Jing^a ; Qiupei Tan^a ; Wen Xue^a ; Yong Dai^c ; ^{daiyong2222@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Weiguo Sui^a ; ^{suiwg@163.com" class="auth_mail" title="E-mail the corresponding author}

关键词：XLMR ; X-linked mental retardation ; EEG ; Electroencephalogram ; MRI ; Magnetic resonance imaging ; PHA ; Phytohemagglutinin ; LM-PCR ; Ligation-mediated polymerase chain reaction ; SNPs ; Single nucleotide polymorphisms ; InDels ; Insertions or deletions ; BWA ; Burrows&ndash ; Wheeler alignment tool ; SIFT ; Sorting intolerant from tolerant ; FISH ; Fluorescence in situ hybridization ; IQ ; Intelligence quotient ; NDI ; Nephrogenic diabetes insipidus

刊名：Gene

出版年：2016

6.A computational approach to determine susceptibility to cancer by evaluating the deleterious effect of nsSNP in XRCC1 gene on binding interaction of XRCC1 protein with ligase III

作者：Preety Kadian Singh ; Kinnari N. Mistry ; ^{kinnarimistry@aribas.edu.in" class="auth_mail" title="E-mail the corresponding author} ; ^{kinnarinmistry@yahoo.com" class="auth_mail" title="E-mail the corresponding author}

关键词：BER ; base excision repair ; DDG ; Gibbs free energy change ; GO ; gene ontology ; LIG3 ; ligase III ; NER ; nucleotide excision repair ; NHEJ ; non-homologous end joining ; nsSNPs ; non-synonymous single nucleotide polymorphisms ; PDB ; Protein Data Bank ; RI ; reliability index ; SAPs ; single amino acid polymorphisms ; SIFT ; sorting intolerant from tolerant ; subPSEC ; substitution position-specific evolutionary conservation ; SVM ; support vector machine ; XRCC1 ; X-ray repair cross-complementing group 1

刊名：Gene

出版年：2016

7.In silico analysis of nsSNPs in human methyl CpG binding protein 2

作者：Mansi Desai ; Jenabhai Chauhan ; ^{jenabhaichauhan@aribas.edu.in" class="auth_mail" title="E-mail the corresponding author} ; ^{jbc109@gmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：MECP2 ; methyl CpG binding protein 2 ; SNP ; single nucleotide polymorphism ; SIFT ; sorting intolerant from tolerant ; PolyPhen ; phenotype polymorphism ; nsSNP ; non synonymous single nucleotide polymorphism ; OMIM ; online Mendelian inheritance in man ; MUSTER ; multi-sources ThreadER ; NCBI ; National Center for Biological Information ; PANTHER ; protein analysis through evolutionary relationship ; SNPs&GO ; single nucleotide polymorphism database and gene ontology

刊名：Meta Gene

出版年：2016

8.A novel mutation of GATA4 (K300T) associated with familial atrial septal defect

作者：Jia Chen^b ; ¹ ; ^{chenjia@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Bingyang Qi^a ; ¹ ; ^{qiby14@mails.jlu.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Juan Zhao^b ; ^{zhaojuan@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Wei Liu^b ; ^{liuwei_nv@126.com" class="auth_mail" title="E-mail the corresponding author} ; Ranhui Duan^b ; ^{duanranhui@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Mingqiu Zhang^a ; ^{zhangmingqiu62@126.com" class="auth_mail" title="E-mail the corresponding author}

关键词：CHD ; congenital heart diseases ; ToF ; tetralogy of Fallot ; ASD ; atrial septal defect ; VSD ; ventricular septal defect ; AVSD ; atrioventricular septal defect ; DCM ; dilated cardiomyopathy ; HGMD ; human gene mutation database ; dbSNP ; database of Single Nucleotide Polymorphisms ; EVSD ; Exome Variant Server Database ; NLS ; nuclear localization signal ; SNP ; Single nucleotide polymorphism ; GATK ; Genome Analysis Toolkit ; PolyPhen-2 ; Polymorphism Phenotyping v2 ; SIFT ; Sorting Intolerant From Tolerant ; TAD ; tra

刊名：Gene

出版年：2016

9.Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy

作者：Irene Bottillo^a ; ^{i.bottillo@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Daniela D'Angelantonio^a ; Viviana Caputo^b ; Alessandro Paiardini^c ; Martina Lipari^a ; Carmelilia De Bernardo^a ; Diana Giannarelli^d ; Antonio Pizzuti^b ; Silvia Majore^a ; Marco Castori^a ; Elisabetta Zachara^e ; Federica Re^e ; Paola Grammatico^a

关键词：HCM ; hypertrophic cardiomyopathy ; DCM ; dilatative cardiomyopathy ; RCM ; restrictive cardiomyopathy ; ARVC ; arrhythmogenic right ventricular cardiomyopathy ; NGS ; next generation sequencing ; NsSNV ; non-synonymous single nucleotide variant ; ECG ; electrocardiography ; CMRI ; cardiac magnetic resonance ; SCD ; sudden cardiac death ; NSVT ; non-sustained ventricular tachycardia ; SIFT ; sorting intolerant from tolerant ; PolyPhen-2 ; polymorphism phenotyping v2 ; GERP ; genomic evolutionary rate profiling ; RMSD ; ro

刊名：Gene

出版年：2016

10.Association of the MTHFR rs1801131 and rs1801133 variants in sporadic Parkinson’s disease patients

作者：Lamei Yuan^a ; ^b ; Zhi Song^b ; Xiong Deng^a ; Wei Xiong^c ; Zhijian Yang^a ; Hao Deng^a ; ^b ; ^{hdeng008@yahoo.com" class="auth_mail" title="E-mail the corresponding author}

关键词：PD ; Parkinson&rsquo ; s disease ; MAPT ; the microtubule-associated protein tau gene ; GBA ; the glucocerebrosidase gene ; SMPD1 ; the sphingomyelin phosphodiesterase 1 ; acid lysosomal gene ; MTHFR ; the methylenetetrahydrofolate reductase gene ; dbSNP ; database of single nucleotide polymorphisms ; SIFT ; Sorting Intolerant from Tolerant ; PolyPhen-2 ; Polymorphism Phenotyping version 2 ; MALDI-TOF MS ; Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry ; PCR ; polymerase chain reaction

刊名：Neuroscience Letters

出版年：2016

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