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Elsevier电子期刊(20)

在“Elsevier电子期刊”中，命中：20条，耗时：小于0.01 秒

在所有数据库中总计命中：20条

1.Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome

关键词：COX ; cytochrome oxidase ; M2 ; deoxyguanosine kinase-deficient rat model ; DGUOK ; deoxyguanosine kinase ; EPR (ESR) ; electron paramagnetic (spin) resonance (spectroscopy) ; FeS ; iron&ndash ; sulfur (cluster) ; H&E ; hematoxylin and eosin ; MD ; mitochondrial disease ; MDS ; mitochondrial DNA depletion syndrome ; MPV17 ; mitochondrial inner membrane protein ; mtDNA ; mitochondrial DNA ; NADH ; reduced nicotinamide adenine dinucleotide ; POLG ; DNA polymerase γ ; SDH ; succinate dehydrogenase ; TWINKLE ; a mitochondrial D

刊名：Free Radical Biology and Medicine

出版年：2016

2.Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure

作者：Abdulrahman Al-Hussaini ; MD¹ ; ^{aa_alhussaini@yahoo.com" class="auth_mail} ; Eissa Faqeih ; MD² ; Ayman W. El-Hattab ; MD² ; Majid Alfadhel³ ; Ali Asery ; MD¹ ; Badr Alsaleem ; MD¹ ; Eman Bakhsh ; MD⁴ ; Ashraf Ali ; MD⁵ ; Ali Alasmari ; MD² ; Khurram Lone ; MD¹ ; Ahmed Nahari ; MD¹ ; Wafaa Eyaid ; MD³ ; Mohammed Al Balwi ; MD⁵ ; ⁶ ; Kate Craig ; PhD⁷ ; Anna Butterworth ; BSc⁷ ; Langping He ; PhD⁷ ; Robert W. Taylor ; PhD ; FRCPath⁷

关键词：ATP ; Adenosine triphosphate ; DGUOK ; Deoxyguanosine kinase ; MDS ; Mitochondrial DNA depletion syndrome ; MRI ; Magnetic resonance imaging ; mtDNA ; Mitochondrial DNA

刊名：The Journal of Pediatrics

出版年：March, 2014

3.Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine

作者：S. Harvey Mudd^a ; ^{muddh@mail.nih.gov} ; Conrad Wagner^b ; Zigmund Luka^b ; Sally P. Stabler^c ; Robert H. Allen^c ; Richard Schroer^d ; Timothy Wood^d ; Jing Wang^e ; Lee-Jun Wong^e

关键词：Mitochondria ; Depletion ; Methionine ; S-adenosylmethionine ; MPV17 ; DGUOK

刊名：Molecular Genetics and Metabolism

出版年：2012

4.Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy

作者：Adam H. Buchaklian ; Daniel Helbling ; Stephanie M. Ware ; David P. Dimmock

关键词：Mitochondrial DNA depletion ; DGUOK deficiency ; Hepatocerebral ; cardiomyopathy

刊名：Molecular Genetics and Metabolism

出版年：2012

5.Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome

作者：Coralie Haudry^a ; Pascale de Lonlay^a ; ^b ; ^c ; Valerie Malan^a ; ^b ; ^c ; Christine Bole-Feysot^d ; Zahra Assouline^a ; Solenn Pruvost^d ; Anais Brassier^a ; ^b ; Jean-Paul Bonnefont^a ; ^b ; ^c ; Arnold Munnich^a ; ^b ; ^c ; Agnè ; s Rö ; tig^b ; ^c ; Anne-Sophie Lebre^a ; ^b ; ^c ; ^{anne-sophie.lebre@nck.aphp.fr}

关键词：matUPD2 ; maternal uniparental disomy of chromosome 2 ; MLPA ; Multiplex ligation-dependent probe amplification ; AOH ; absence of heterozygosity ; dGK ; Deoxyguanosine kinase ; mtDNA ; mitochondrial DNA ; MRI ; Magnetic resonance imaging ; MRS ; Magnetic resonance sp

刊名：Molecular Genetics and Metabolism

出版年：2012

6.A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping

作者：Jack Q. Ji ; David Dimmock ; Lin-Ya Tang ; Maria Descartes ; Roberto Gomez ; S. Lane Rutledge ; Eric S. Schmitt ; Lee-Jun Wong

关键词：Mitochondrial DNA depletion ; DGUOK mutation ; Splicing site mutation ; Hepatocerebral mtDNA depletion ; Exon skipping

刊名：Mitochondrion

出版年：2010

7.Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients

作者：Aleix Navarro-Sastre^a ; ⁱ ; Frederic Tort^a ; ⁱ ; Judit Garcia-Villoria^a ; ⁱ ; Mó ; nica Ruiz Pons^b ; André ; s Nascimento^c ; Jaume Colomer^c ; Jaume Campistol^c ; Maria Eugenia Yoldi^d ; Ester Ló ; pez-Gallardo^e ; ⁱ ; Julio Montoya^e ; ⁱ ; Maria Unceta^f ; Maria Jesú ; s Martinez^g ; Paz Briones^a ; ^h ; ⁱ ; Antonia Ribes^a ; ⁱ ; ^{aribes@clinic.ub.es}

关键词：mtDNA depletion ; SUCLA2 ; SUCLG1 ; DGUOK ; MPV17 ; POLG

刊名：Molecular Genetics and Metabolism

出版年：2012

8.In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion

作者：Stefanie Bulst ; Elke Holinski-Feder ; Brendan Payne ; Angela Abicht ; Sabine Krause ; Hanns Lochm¨¹ller ; Patrick F. Chinnery ; Maggie C. Walter ; Rita Horvath

关键词：COX ; cytochrome c oxidase ; COX II ; cytochrome c oxidase subunit II ; DGUOK ; deoxyguanosine kinase ; dNMP ; deoxy-nucleoside monophosphate ; dNDP ; deoxy-nucleoside diphosphate ; dNTP ; deoxy-nucleoside triphosphate ; HIV ; human immunodeficiency virus ; HRP ; horser

刊名：Molecular Genetics and Metabolism

出版年：2012

9.The first founder DGUOK

作者：N. Brahimi ; M. Jambou ; E. Sarzi ; V. Serre ; N. Boddaert ; S. Romano ; P. de Lonlay ; A. Slama ; A. Munnich ; A. Rö ; tig ; J.P. Bonnefont ; A.S. Lebre

关键词：Mitochondrial DNA depletion syndrome ; DGUOK gene ; Hepatoencephalopathy ; Founder mutation ; In silico structure analysis

刊名：Molecular Genetics and Metabolism

出版年：2009

10.Altered gene transcription profiles in fibroblasts harboring either TK2 or DGUOK mutations indicate compensatory mechanisms

作者：Joan Villarroya ; Carme de Bolós ; Anna Meseguer ; Michio Hirano ; Maya R. Vilà

关键词：Fibroblasts ; hENT1 ; mtDNA depletion ; Mitochondrial dNTP pools ; TK2

刊名：Experimental Cell Research

出版年：2009

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