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在“Elsevier电子期刊”中，命中：38条，耗时：小于0.01 秒

在所有数据库中总计命中：501条

1.Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S

作者：Kourtnee Hoitsema^a ; Dominick Amato^b ; Aneal Khan^c ; ^e ; Sandra Sirrs^d ; Francis Y.M. Choy^a ; ^{fchoy@uvic.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：bp ; base pairs ; EC ; enzyme commission number ; GD ; Gaucher disease ; GBA ; glucocerebrosidase gene ; GBA ; glucocerebrosidase enzyme protein ; Hb ; hemoglobin ; MRI ; magnetic resonance imaging ; OMIM ; Online Mendelian Inheritance in Man entry number ; PCR ; polymerase chain reaction ; RFLP ; restriction fragment length polymorphism ; RT-PCR ; reverse transcription-PCR

刊名：Meta Gene

出版年：2016

2.Comparative analysis of transcriptomes in aerial stems and roots of Ephedra sinica based on high-throughput mRNA sequencing

作者：Taketo Okada^a ; ^{okadat@kph.bunri-u.ac.jp} ; Hironobu Takahashi^b ; Yutaka Suzuki^c ; Sumio Sugano^d ; Masaaki Noji^b ; Hiromichi Kenmoku^b ; Masao Toyota^b ; Shigehiko Kanaya^e ; Nobuo Kawahara^f ; Yoshinori Asakawa^b ; Setsuko Sekita^a

关键词：EC ; Enzyme Commission ; Es_R ; E. sinica roots ; Es_S ; E. sinica aerial stems ; Es_SR ; E. sinica combined aerial stems and roots ; GO ; gene ontology ; IPR ; InterPro

刊名：Genomics Data

出版年：2016

3.Patients with type 1 Gaucher disease in Spain: A cross-sectional evaluation of health status

关键词：ANOVA ; one-way analysis of variance ; BMD ; bone mineral density ; BMI ; body mass index ; CCL18 ; chemokine (C-C motif) ligand 18 ; EC ; Enzyme commission number ; ERT ; enzyme replacement therapy ; GBA ; glucocerebrosidase ; GD ; Gaucher disease ; DXA ; dual energy X-ray absorptiometry ; IQR ; interquartile range ; MAP Tool® ; monitor ; action and progress tool ; MN ; multiples of normal ; MRI ; magnetic resonance imaging ; OMIM ; Online Mendelian Inheritance in Man ; QoL ; quality of life ; SD ; standard deviation ; SRT

刊名：Blood Cells, Molecules and Diseases

出版年：2016

4.In-silico structural analysis of E509K mutation in LARGE and T192M mutation in Alpha Dystroglycan in the inhibition of glycosylation of Alpha Dystroglycan by LARGE

作者：Simanti Bhattacharya ^{simanti.bhattacharya@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Amit Das ^{amit.das.ku@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Angshuman Bagchi ; ^{angshu@klyuniv.ac.in" class="auth_mail" title="E-mail the corresponding author} ; ^{angshuman_bagchi@yahoo.com" class="auth_mail" title="E-mail the corresponding author}

关键词：DMD ; Duchenne Muscular Dystrophy ; α-DG ; Alpha Dystroglycan ; DAPC ; Dystrophin Associated Protein Complex ; MDDGC9 ; Muscular Dystrophy Dystroglycanopathy type C9 ; OMIM ; Online Mendelian Inheritance in Man ; EC ; Enzyme Commission number ; MDDGB6 ; Muscular Dystrophy Dystroglycanopathy type B6 ; GlcA ; glucuronic acid ; Xyl ; Xylosyl moety ; PDB ; Protein Data Bank ; WT ; Wild type ; MT ; Mutant

刊名：Computational Biology and Chemistry

出版年：2016

5.Using DFT methodology for more reliable predictive models: Design of inhibitors of Golgi α-Mannosidase II

作者：Adela Bobovská ; ^a ; ^b ; ^{chembobo@savba.sk" class="auth_mail" title="E-mail the corresponding author} ; Igor Tvaro&scaron ; ka^a ; ^{chemitsa@savba.sk" class="auth_mail" title="E-mail the corresponding author} ; Juraj Kó ; ňa^a ; ^{chemkona@savba.sk" class="auth_mail" title="E-mail the corresponding author}

关键词：GMII ; Golgi α-mannosidase II ; LMan ; lysosomal α-mannosidase ; QM-DFT ; quantum mechanical density functional theory calculations ; GH ; glycoside hydrolase ; E.C. ; enzyme commission number ; I-E ; inhibitor-enzyme complex ; I-BS ; inhibitor-binding site complex ; I-BSF ; inhibitor-binding site fragment ; ED ; empirical descriptor ; MMD ; molecular mechanics descriptor ; LIE ; linear interaction energy method

刊名：Journal of Molecular Graphics and Modelling

出版年：2016

6.De novo assembly of the transcriptome of Aegiceras corniculatum, a mangrove species in the Indo-West Pacific region

作者：Lu Fang^a ; Yuchen Yang^a ; Wuxia Guo^a ; Jianfang Li^a ; Cairong Zhong^b ; Yelin Huang^a ; Renchao Zhou^a ; ^{zhrench@mail.sysu.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Suhua Shi^a ; ^{lssssh@mail.sysu.edu.cn" class="auth_mail" title="E-mail the corresponding author}

关键词：Mangrove ; Transcriptome ; Sequencing ; De novo assembly ; Annotation

刊名：Marine Genomics

出版年：2016

7.Two novel mutations in glucocerebrosidase, C23W and IVS7 鈭?#xa0;1 G > A, identified in Type 1 Gaucher patients heterozygous for N370S

作者：Alex ; ria Jack ; Dominick Amato ; Geoffrey Morris ; Francis Y.M. Choy

关键词：OMIM ; Online Mendelian Inheritance in Man entry number ; GBA ; glucocerebrosidase ; EC ; Enzyme Commission number ; RFLP ; restriction fragment length polymorphism ; ACE ; angiotensin-converting enzyme ; PCR ; polymerase chain reaction ; MRI ; magnetic resonance imaging ; DXA ; dual-energy X-ray absorptiometry ; bp ; base pairs ; GauSSI-I ; Gaucher Disease Severity Score Index-Type I

刊名：Gene

出版年：15 March, 2014

8.Exploring the Biological and Chemical Complexity of the Ligases

作者：Gemma L. Holliday ; ^{gemma.holliday@ucsf.edu" class="auth_mail} ; Syed Asad Rahman ; Nicholas Furnham¹ ; Janet M. Thornton

关键词：EC ; Enzyme Commission ; NTP ; nucleoside triphosphate ; NDP ; nucleoside diphosphate ; NMP ; nucleoside monophosphate ; MDA ; multiple domain architecture ; AAM ; atom&ndash ; atom mapping ; CoA ; coenzyme A ; CSA ; Catalytic Site Atlas

刊名：Journal of Molecular Biology

出版年：15 May 2014

9.Effect of posttranslational modifications on enzyme function and assembly

作者：Helena Ry拧lav谩 ; Veronika Doubnerov谩 ; Daniel Kavan ; Ond艡ej Van臎k

关键词：ABRF ; Association for Biomolecular Resource Facilities ; AGE ; advanced glycosylation endproduct ; ALE ; advanced lipooxidation endproduct ; AML ; acute myeloid leukemia ; APC/C ; anaphase-promoting complex/cyclosome ; CCT ; chaperone containing TCP-1 ; CDK ; cyclin-dependent kinase ; CHO ; Chinese hamster ovary ; COS-1 ; CV-1 in Origin carrying SV40 genetic material (cell line) ; CSC ; cell surface capture technology ; EC ; enzyme commission of IUPAC ; ECD ; electron capture dissociation ; EGF ; epidermal growth facto

刊名：Journal of Proteomics

出版年：30 October, 2013

10.Relationship between global structural parameters and Enzyme Commission hierarchy: Implications for function prediction

作者：Marcelo Boareto ; Michel E.B. Yamagishi ; Nestor Caticha ; Vitor B.P. Leite

关键词：Enzyme structure ; EC hierarchy ; Function prediction ; Bioinformatics ; Physicochemical parameters

刊名：Computational Biology and Chemistry

出版年：2012

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