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在“Elsevier电子期刊”中，命中：1,873条，耗时：0.018962 秒

在所有数据库中总计命中：13,484条

1.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

2.Prognostic value of T786C and G894T eNOS polymorphisms in sickle cell disease

作者：Iakovos Armenis^a ; ¹ ; ^{iakovosarm@hotmail.com} ; Vassiliki Kalotychou^a ; ¹ ; Revekka Tzanetea^a ; ^b ; Panagoula Kollia^c ; Zoi Kontogeorgiou^a ; ^c ; Dimitra Anastasopoulou^a ; ^c ; Marina Mantzourani^a ; Michael Samarkos^a ; Konstantinos Pantos^d ; Kostas Konstantopoulos^e ; Ioannis Rombos^b

关键词：Nitric oxide ; Endothelial Nitric Oxide Synthase (eNOS) ; Polymorphisms ; Sickle cell disease ; Hemoglobinopathies ; G894T ; T786C

刊名：Nitric Oxide

出版年：2017

3.Hippocampal-prefrontal connectivity as a translational phenotype for schizophrenia

作者：Florian Bä ; hner^a ; ^b ; ^{florian.baehner@zi-mannheim.de} ; Andreas Meyer-Lindenberg^a ; ^b

关键词：Hippocampus ; Prefrontal cortex ; Functional neuroimaging ; Schizophrenia ; Short-term memory

刊名：European Neuropsychopharmacology

出版年：2017

4.Predicting CYP2D6 phenotype from resting brain perfusion images by gradient boosting

作者：Giulio Napolitano^a ; ^{g.napolitano@imbie.uni-bonn.de} ; Julia C. Stingl^b ; Matthias Schmid^a ; Roberto Viviani^c

关键词：Machine learning ; Genetic polymorphism ; Image classification ; Enzymatic activity

刊名：Psychiatry Research: Neuroimaging

出版年：2017

5.Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease

作者：Ekram M. Fateen^a ; ^{efateen@yahoo.com} (Professor) ; Hanan Abd El Mawgoud^b ; ^{hananmoawad@gmail.com} (Assistant Professor) ; Noura R. Eissa^c ; ^{nr.eissa@yahoo.com} (Assistant Reseacher) ; Mona M. Ibrahim^a ; ^{monamahmoud60@yahoo.com} (Assistant Professor) ; Mona S. Aglan^d ; ^{drmona_aglan@yahoo.com} (Professor) ; Mona L. Essawi^c ; ^{mlessawi@yahoo.com} (Professor)

关键词：MPS IVA ; Mucopolysaccharidosis type 4 &ndashA ; GALNS ; N-acetylgalactosamine-6-sulfatase ; GAGs ; Glycosaminoglycans ; NRC ; National Research Centre ; MPSs ; Mucopolysaccharidoses ; GLB1 ; β-Galactosidase ; KS ; Keratan Sulfate ; C6S ; Chondroitin-6-Sulfate ; kDa ; Kilo Dalton ; HGMD ; Human Gene Mutation Database ; ERT ; Enzyme Replacement Therapy ; LMSDC ; Limb Malformation and Skeletal Deformities Clinic ; RFLP ; Restriction Fragment Length Polymorphism ; PCR ; Polymerase Chain Reaction ; mRNA ; messenger Ribonucleic

刊名：Gene

出版年：2017

6.Cellular immune response to β₂-glycoprotein-I valine/leucine²⁴⁷ phenotypes in Mexican patients with primary antiphospholipid syndrome

作者：Carlos A. Nú ; ñ ; ez-Á ; lvarez^a ; Diego F. Herná ; ndez-Ramí ; rez^a ; Araceli Martinez-Castillo^a ; Virginia Pascual Ramos^a ; Javier Cabiedes^a ; Alicia Ortega^b ; ^c ; ^{aortega@unam.mx} ; Antonio R. Cabral^a ; ^{arcabral1952@gmail.com}

关键词：Antiphospholipid syndrome (APS) ; β2-glycoprotein-I (β2GP-I) ; PBMC proliferation ; Calorimetry ; Anti-β2-glycoprotein antibodies

刊名：Human Immunology

出版年：2017

7.Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis

作者：Ron Bochner¹ ; ¹² ; Liat Samuelov¹ ; ² ; ¹² ; Ofer Sarig¹ ; ¹² ; Qiaoli Li³ ; Christopher A. Adase² ; Ofer Isakov⁴ ; ⁵ ; Natalia Malchin¹ ; Dan Vodo¹ ; ⁶ ; Ronna Shayevitch⁶ ; Alon Peled¹ ; ⁶ ; Benjamin D. Yu² ; Gilad Fainberg¹ ; Emily Warshauer¹ ; Noam Adir⁷ ; Noam Erez⁸ ; Andrea Gat⁹ ; Yehonatan Gottlieb¹⁰ ; Tova Rogers¹ ; Mor Pavlovsky¹ ; Ilan Goldberg¹ ; Noam Shomron⁴ ; ⁵ ; Aileen Sandilands¹¹ ; Linda E. Campbell¹¹ ; Stephanie MacCallum¹¹ ; W. H. Irwin McLean¹¹ ; Gil Ast⁶ ; Richard L. Gallo² ; Jouni Uitto³ ; Eli Sprecher¹ ; ⁶ ; ^{elisp@tlvmc.gov.il}

关键词：ARCI ; autosomal recessive congenital ichthyose ; PCR-RFLP ; PCR-restriction fragment length polymorphism ; siRNA ; small interfering RNA

刊名：Journal of Investigative Dermatology

出版年：2017

8.Sake yeast YHR032W/ERC1 haplotype contributes to high S-adenosylmethionine accumulation in sake yeast strains

作者：Muneyoshi Kanai¹ ; ^&Dagger ; ; ^{kanai@nrib.go.jp} ; Tomoko Kawata¹ ; ² ; Yoshie Yoshida¹ ; Yasuko Kita¹ ; Takafumi Ogawa³ ; Masaki Mizunuma³ ; Daisuke Watanabe¹ ; ^§ ; ; Hitoshi Shimoi¹ ; ^§ ; § ; ; Akihiro Mizuno¹ ; Osamu Yamada¹ ; Tsutomu Fujii¹ ; ² ; Haruyuki Iefuji¹ ; ² ; ^§ ; § ; § ; ; ^&Dagger ;

关键词：Sake yeast ; Laboratory yeast ; S-adenosylmethionine ; Quantitative trait locus ; Single-nucleotide polymorphisms

刊名：Journal of Bioscience and Bioengineering

出版年：2017

9.Understanding the role of the microbiome in chronic obstructive pulmonary disease: principles, challenges, and future directions

作者：Yvonne J. Huang^a ; John R. Erb-Downward^a ; Robert P. Dickson^a ; Jeffrey L. Curtis^a ; ^b ; Gary B. Huffnagle^a ; MeiLan K. Han^a ; ^{mrking@umich.edu}

关键词：AECOPD ; acute exacerbation of COPD ; BAL ; bronchoalveolar lavage ; COPD ; chronic obstructive pulmonary disease ; DGGE ; denaturing gradient gel electrophoresis ; DNA ; deoxyribonucleic acid ; GI ; gastrointestinal ; NIH ; National Institutes of Health ; OTU ; operational taxonomic unit ; PCR ; polymerase chain reaction ; rRNA ; ribosomal ribonucleic acid ; TGGE ; temperature gradient gel electrophoresis ; T-RFLP ; terminal restriction fragment length polymorphism ; TRF ; terminal restriction fragment

刊名：Translational Research

出版年：2017

10.Riboflavin, MTHFR genotype and blood pressure: A personalized approach to prevention and treatment of hypertension

作者：Helene McNulty ; ^{h.mcnulty@ulster.ac.uk} ; J.J. Strain ; Catherine F. Hughes ; Mary Ward

关键词：Riboflavin ; Methylenetetrahydrofolate reductase (MTHFR) genotype ; Blood pressure ; Hypertension ; Hypertension-in-pregnancy ; Personalized medicine

刊名：Molecular Aspects of Medicine

出版年：2017

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