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Elsevier电子期刊(116)

在“Elsevier电子期刊”中，命中：116条，耗时：0.0159911 秒

在所有数据库中总计命中：116条

1.Computational analysis unravels novel destructive single nucleotide polymorphisms in the non-synonymous region of human caveolin gene

作者：Nitin Chitranshi^a ; ^{nitinchitranshi@gmail.com} ; Yogita Dheer^a ; Roshana Vander Wall^a ; Veer Gupta^b ; Mojdeh Abbasi^a ; Stuart L. Graham^a ; ^c ; Vivek Gupta^a

关键词：SNP ; Single nuncleotide polymorphism ; nsSNP ; non-synonymous single nucleotide polymorphism ; Cav ; caveolin ; IGFBP-5 ; insulin-like growth factor binding protein-5 ; CKD ; chronic kidney diseases ; iNOS ; inducible nitric oxide synthase ; HIF-1α ; hypoxia inducible factor-1 alpha ; IFN-γ ; interferon-gamma ; IL-6 ; interleukin 6 ; H3K9me3 ; histone H3 lysine 9 trimethylation ; RGCs ; retinal ganglion cells ; OMIM ; Online Mendelian Inheritance in Man ; dbSNP ; database of single nucleotide polymorphism ; UNIPROT ; uni

刊名：Gene Reports

出版年：2017

2.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

3.Characterization of additional vitamin D binding protein variants

作者：Lei Fu^a ; ^b ; Chad R. Borges^c ; Douglas S. Rehder^c ; Betty Y.L. Wong^a ; Rashida Williams^b ; Thomas O. Carpenter^d ; ^e ; David E.C. Cole^a ; ^b ; ^f ; ^g ; ^{davidec.cole@utoronto.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：DBP ; vitamin D binding protein ; DHPLC ; denaturing high performance liquid chromatography ; GC ; group specific component ; dbSNP ; single nucleotide polymorphism database ; 25OHD ; 25-hydroxyvitamin D ; LC-ESI-TOF-MS ; liquid chromatography-electrospray ionization-time of flight-mass spectrometry ; MAF ; minor allele frequency

刊名：Journal of Steroid Biochemistry and Molecular Biology

出版年：2016

4.Combined effects of AHR, CYP1A1, and XRCC1 genotypes and prenatal maternal smoking on infant birth size: Biomarker assessment in the Hokkaido Study

作者：Sumitaka Kobayashi^a ; ^b ; Fumihiro Sata^a ; ^c ; Seiko Sasaki^b ; Titilola Serifat Braimoh^a ; ^b ; Atsuko Araki^a ; Chihiro Miyashita^a ; Houman Goudarzi^a ; Sachiko Kobayashi^a ; Reiko Kishi^a ; ^{rkishi@med.hokudai.ac.jp" class="auth_mail" title="E-mail the corresponding author}

关键词：AHR ; aromatic hydrocarbon receptor ; BP ; benzo[a]pyrene ; BPDE ; benzo[a]pyrene 7 ; 8-diol oxide ; CI ; confidence interval ; CYP ; cytochrome P450 ; dbSNP ; database single nucleotide polymorphism ; GST ; glutathione S-transferase ; PAH ; polycyclic aromatic hydrocarbon ; XRCC1 ; X-ray complementing repair gene 1

刊名：Reproductive Toxicology

出版年：2016

5.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

6.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

7.CDH1/E-cadherin and solid tumors. An updated gene-disease association analysis using bioinformatics tools

关键词：CDH1 ; Epithelial Cadherin ; Solid tumors ; Bioinformatics ; Somatic mutations

刊名：Computational Biology and Chemistry

出版年：2016

8.Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17)

作者：Shinichi Hirabayashi^a ; ^{shirarin@naganoch.gr.jp" class="auth_mail" title="E-mail the corresponding author} ; Hirotomo Saitsu^b ; Naomichi Matsumoto^b

关键词：Whole exome sequencing ; Mediator complex subunit 17 ; Compound heterozygous mutation ; Choreiform movement ; Nystagmus

刊名：Brain and Development

出版年：2016

9.Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes

作者：Marie-Luise Brennan^a ; Lynn M. Pique^a ; Iris Schrijver^a ; ^b ; ^{ischrijver@stanfordmed.org" class="auth_mail" title="E-mail the corresponding author}

关键词：Cystic fibrosis ; CF ; Epithelial sodium channel ; ENaC ; SCNN1 ; Molecular diagnosis ; CFTR ; Nonwhite

刊名：Journal of Cystic Fibrosis

出版年：2016

10.Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene

作者：Jing Ma^a ; Tie-Song Zhang^a ; Ken Lin^a ; Hao Sun^b ; Hong-Chao Jiang^c ; Yan-Li Yang^d ; Fan Low^a ; Ying-Qin Gao^a ; Biao Ruan^d ; ^{ynent@163.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Waardenburg syndrome type II ; Hereditary deafness ; SOX10 gene ; Gene mutation

刊名：International Journal of Pediatric Otorhinolaryngology

出版年：2016

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