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Elsevier电子期刊(77)

在“Elsevier电子期刊”中，命中：77条，耗时：0.1029526 秒

在所有数据库中总计命中：154条

1.Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey

作者：Emel Isiyel^a ; ^{eisiyel@gazi.edu.tr} ; Sevcan A. Bakkaloglu Ezgu^a ; Salim Caliskan^b ; Sema Akman^c ; Ipek Akil^d ; Yilmaz Tabel^e ; Nurver Akinci^f ; Elif Bahat Ozdogan^g ; Ahmet Ozel^h ; Fehime Kara Erogluⁱ ; Fatih S. Ezgu^j

关键词：Primary hyperoxaluria type 1 ; Alanine glyoxylateaminotransferase (AGXT) gene mutation

刊名：Molecular Genetics and Metabolism

出版年：2016

2.Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure

关键词：Primary hyperoxaluria type 1 ; AGXT ; Renal transplantation ; Renal failure

刊名：Transplant Immunology

出版年：2016

3.Generation and characterization of human iPSC lines derived from a Primary Hyperoxaluria Type I patient with p.I244T mutation

作者：Natalia Zapata-Linares^a ; Saray Rodriguez^a ; Eduardo Salido^b ; Gloria Abizanda^a ; Elena Iglesias^a ; Felipe Prosper^a ; ^c ; Gloria Gonzalez-Aseguinolaza^d ; ^{ggasegui@unav.es" class="auth_mail" title="E-mail the corresponding author} ; Juan R. Rodriguez-Madoz^a ; ^{jrrodriguez@unav.es" class="auth_mail" title="E-mail the corresponding author}

刊名：Stem Cell Research

出版年：2016

4.Caenorhabditis elegans AGXT-1 is a mitochondrial and temperature-adapted ortholog of peroxisomal human AGT1: New insights into between-species divergence in glyoxylate metabolism

作者：Noel Mesa-Torres^a ; ¹ ; ^{noelmesatorres@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Ana C. Calvo^b ; ¹ ; Elisa Oppici^c ; Nicholas Titelbaum^a ; ^b ; Riccardo Montioli^c ; Antonio Miranda-Vizuete^d ; Barbara Cellini^c ; Eduardo Salido^e ; Angel L. Pey^a ; ^{angelpey@ugr.es" class="auth_mail" title="E-mail the corresponding author}

关键词：Primary hyperoxaluria ; Enzyme kinetics ; Substrate specificity ; Protein stability ; Conformational disease

刊名：Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics

出版年：2016

5.RNA interference in the treatment of renal stone disease: Current status and future potentials

作者：Kyle D. Wood ; ^{kwood2@uabmc.edu} ; Ross P. Holmes ^{rholmes@uab.edu} ; John Knight ^{knight74@uab.edu}

关键词：RNA interference ; RNAi ; Kidney stone ; Nephrolithiasis ; Primary hyperoxaluria ; Oxalate ; Glycolate oxidase ; Hydroxyproline ; Idiopathic calcium oxalate ; Hydroxyproline dehydrogenase ; Endogenous oxalate

刊名：International Journal of Surgery

出版年：2016

6.Effects of interface mutations on the dimerization of alanine glyoxylate aminotransferase and implications in the mistargeting of the pathogenic variants F152I and I244T

作者：Mirco Dindo^a ; Riccardo Montioli^a ; Mirko Busato^b ; Alejandro Giorgetti^b ; Barbara Cellini^a ; Carla Borri Voltattorni^a ; ^{carla.borrivoltattorni@univr.it}

关键词：Primary hyperoxaluria type I ; Human alanine glyoxylate aminotransferase ; Interface hot spots ; Protein dimerization ; Molecular dynamics ; Protein mistargeting

刊名：Biochimie

出版年：2016

7.Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay

作者：Sonia Fargue^a ; ^b ; ^{sfargue@uab.edu" class="auth_mail" title="E-mail the corresponding author} ; John Knight^b ; Ross P. Holmes^b ; Gill Rumsby^c ; Christopher J. Danpure^a

关键词：AGT ; alanine ; glyoxylate amino transferase ; COM ; calcium monohydrate crystals ; GO ; glycolate oxidase ; PH1 ; primary hyperoxaluria type 1 ; PLP ; pyridoxal-5&prime ; -phosphate

刊名：Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

出版年：2016

8.Metabolism of ¹³C₅-hydroxyproline in mouse models of Primary Hyperoxaluria and its inhibition by RNAi therapeutics targeting liver glycolate oxidase and hydroxyproline dehydrogenase

作者：Xingsheng Li^a ; John Knight^a ; Sonia Fargue^a ; Brianna Buchalski^a ; Zhengrong Guan^b ; Edward W. Inscho^b ; Abigail Liebow^c ; Kevin Fitzgerald^c ; William Querbes^c ; W. Todd Lowther^d ; Ross P. Holmes^a ; ^{rholmes@uab.edu" class="auth_mail" title="E-mail the corresponding author}

刊名：Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

出版年：2016

9.Comprehensive morpho-constitutional analysis of urinary stones improves etiological diagnosis and therapeutic strategy of nephrolithiasis

作者：Michel Daudon^a ; ^b ; ^{michel.daudon@tnn.aphp.fr} ; Arnaud Dessombz^c ; ^d ; Vincent Frochot^a ; ^b ; Emmanuel Letavernier^a ; ^b ; Jean-Philippe Haymann^a ; ^b ; Paul Jungers^e ; Dominique Bazin^c ; ^f

关键词：Urolithiasis ; Morphology ; Etiology ; Stone analysis ; Morpho-constitutional analysis ; Calcium oxalate ; Calcium phosphate ; Purines ; Cystine ; Drugs

刊名：Comptes Rendus Chimie

出版年：2016

10.Re: Pyridoxamine and Pyridoxal are More Effective than Pyridoxine in Rescuing Folding-Defective Variants of Human Alanine:Glyoxylate Aminotransferase Causing Primary Hyperoxaluria Type I

作者：Dean G. Assimos ; MD

刊名：The Journal of Urology

出版年：2016

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