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Publikationen

Suchbegriffe: MITOCHONDRIAL DNA, . Treffer: 31

2023

Giaglis, S; Daoudlarian, D; Thiel, J; Rizzi, M; Kyburz, D; Venhoff, N; Walker, UA Mitochondrial DNA: a novel indicator of active inflammation in ANCA-associated vasculitides.
Rheumatology (Oxford). 2023; Doi: 10.1093/rheumatology/kead015
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2022

Kieninger, S; Xiao, T; Weisschuh, N; Kohl, S; Rüther, K; Kroisel, PM; Brockmann, T; Knappe, S; Kellner, U; Lagrèze, W; Mazzola, P; Haack, TB; Wissinger, B; Tonagel, F DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.
J Med Genet. 2022; Doi: 10.1136/jmedgenet-2021-108235 [OPEN ACCESS]
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Tsybrovskyy, O; De, Luise, M; de, Biase, D; Caporali, L; Fiorini, C; Gasparre, G; Carelli, V; Hackl, D; Imamovic, L; Haim, S; Sobrinho-Simões, M; Tallini, G Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors.
J Pathol Clin Res. 2022; 8(2):155-168 Doi: 10.1002/cjp2.247 [OPEN ACCESS]
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2021

Byrne, NJ; Rajasekaran, NS; Abel, ED; Bugger, H Therapeutic potential of targeting oxidative stress in diabetic cardiomyopathy.
Free Radic Biol Med. 2021; 169: 317-342. Doi: 10.1016/j.freeradbiomed.2021.03.046 [OPEN ACCESS]
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2019

Fissolo, N; Cervera-Carles, L; Villar Guimerans, LM; Lleó, A; Clarimón, J; Drulovic, J; Dujmovic, I; Voortman, M; Khalil, M; Gil, E; Navarro, L; Álvarez-Cermeño, JC; Montalban, X; Comabella, M Cerebrospinal fluid mitochondrial DNA levels in patients with multiple sclerosis.
Mult Scler. 2019; 25(11):1535-1538 Doi: 10.1177/1352458518786055
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Waich, S; Roscher, A; Brunner-Krainz, M; Cortina, G; Köstl, G; Feichtinger, RG; Entenmann, A; Müller, T; Knisely, AS; Mayr, JA; Janecke, AR; Vodopiutz, J Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.
J Pediatr Gastroenterol Nutr. 2019; 68(1):e1-e6-e1-e6 Doi: 10.1097/MPG.0000000000002149 [OPEN ACCESS]
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Wei, W; Tuna, S; Keogh, MJ; Smith, KR; Aitman, TJ; Beales, PL; Bennett, DL; Gale, DP; Bitner-Glindzicz, MAK; Black, GC; Brennan, P; Elliott, P; Flinter, FA; Floto, RA; Houlden, H; Irving, M; Koziell, A; Maher, ER; Markus, HS; Morrell, NW; Newman, WG; Roberts, I; Sayer, JA; Smith, KGC; Taylor, JC; Watkins, H; Webster, AR; Wilkie, AOM; Williamson, C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot; Ashford, S; Penkett, CJ; Stirrups, KE; Rendon, A; Ouwehand, WH; Bradley, JR; Raymond, FL; Caulfield, M; Turro, E; Chinnery, PF Germline selection shapes human mitochondrial DNA diversity.
Science. 2019; 364(6442): Doi: 10.1126/science.aau6520 [OPEN ACCESS]
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2018

Waich, S; Roscher, A; Brunner-Krainz, M; Cortina, G; Köstl, G; Feichtinger, RG; Entenmann, A; Müller, T; Knisely, AS; Mayr, JA; Janecke, AR; Vodopiutz, J Severe DGUOK Deficiency in Austria: A Six-Patient Series.
J Pediatr Gastroenterol Nutr. 2018; Doi: 10.1097/MPG.0000000000002149
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2017

Lindquist, C; Bjørndal, B; Rossmann, CR; Tusubira, D; Svardal, A; Røsland, GV; Tronstad, KJ; Hallström, S; Berge, RK Increased hepatic mitochondrial FA oxidation reduces plasma and liver TG levels and is associated with regulation of UCPs and APOC-III in rats.
J Lipid Res. 2017; 58(7):1362-1373 Doi: 10.1194/jlr.M074849 [OPEN ACCESS]
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2016

Tatlisumak, T; Putaala, J; Innilä, M; Enzinger, C; Metso, TM; Curtze, S; von Sarnowski, B; Amaral-Silva, A; Jungehulsing, GJ; Tanislav, C; Thijs, V; Rolfs, A; Norrving, B; Fazekas, F; Suomalainen, A; Kolodny, EH Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population.
J Neurol. 2016; 263(2):257-262 Doi: 10.1007/s00415-015-7969-z [OPEN ACCESS]
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2015

Ebner, S; Mangge, H; Langhof, H; Halle, M; Siegrist, M; Aigner, E; Paulmichl, K; Paulweber, B; Datz, C; Sperl, W; Kofler, B; Weghuber, D Mitochondrial Haplogroup T Is Associated with Obesity in Austrian Juveniles and Adults.
PLoS One. 2015; 10(8):e0135622-e0135622 Doi: 10.1371/journal.pone.0135622 [OPEN ACCESS]
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2014

Burgstaller, JP; Johnston, IG; Jones, NS; Albrechtová, J; Kolbe, T; Vogl, C; Futschik, A; Mayrhofer, C; Klein, D; Sabitzer, S; Blattner, M; Gülly, C; Poulton, J; Rülicke, T; Piálek, J; Steinborn, R; Brem, G MtDNA segregation in heteroplasmic tissues is common in vivo and modulated by haplotype differences and developmental stage.
Cell Rep. 2014; 7(6):2031-2041 Doi: 10.1016/j.celrep.2014.05.020 [OPEN ACCESS]
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2013

Nevado, B; Mautner, S; Sturmbauer, C; Verheyen, E Water-level fluctuations and metapopulation dynamics as drivers of genetic diversity in populations of three Tanganyikan cichlid fish species.
Mol Ecol. 2013; 22(15): 3933-3948. Doi: 10.1111/mec.12374 [OPEN ACCESS]
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2012

Ring, J; Sommer, C; Carrnona-Gutierrez, D; Ruckenstuhl, C; Eisenberg, T; Madeo, F; The metabolism beyond programmed cell death in yeast.
Exp Cell Res. 2012; 318(11):1193-1200 Doi: 10.1016/j.yexcr.2012.03.019 [OPEN ACCESS]
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2011

Mueller, EE; Eder, W; Ebner, S; Schwaiger, E; Santic, D; Kreindl, T; Stanger, O; Paulweber, B; Iglseder, B; Oberkofler, H; Maier, R; Mayr, JA; Krempler, F; Weitgasser, R; Patsch, W; Sperl, W; Kofler, B The Mitochondrial T16189C Polymorphism Is Associated with Coronary Artery Disease in Middle European Populations
PLOS ONE. 2011; 6(1): Doi: 10.1371/journal.pone.0016455 [OPEN ACCESS]
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Schwark, T; Heinrich, A; Preusse-Prange, A; von Wurmb-Schwark, N Reliable genetic identification of burnt human remains.
Forensic Sci Int Genet. 2011; 5(5): 393-399. Doi: 10.1016/j.fsigen.2010.08.008
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Schwark, T; Heinrich, A; von Wurmb-Schwark, N Genetic identification of highly putrefied bodies using DNA from soft tissues.
Int J Legal Med. 2011; 125(6): 891-894. Doi: 10.1007/s00414-010-0537-2
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Zimmermann, FA; Mayr, JA; Feichtinger, R; Neureiter, D; Lechner, R; Koegler, C; Ratschek, M; Rusmir, H; Sargsyan, K; Sperl, W; Kofler, B Respiratory chain complex I is a mitochondrial tumor suppressor of oncocytic tumors.
Front Biosci (Elite Ed). 2011; 3:315-325 Doi: 10.2741/e247
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2010

von Wurmb-Schwark, N; Schwark, T; Caliebe, A; Drenske, C; Nikolaus, S; Schreiber, S; Nebel, A Low level of the mtDNA(4977) deletion in blood of exceptionally old individuals.
Mech Ageing Dev. 2010; 131(3): 179-184. Doi: 10.1016/j.mad.2010.01.005
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Yu-Wai-Man, P; Griffiths, PG; Gorman, GS; Lourenco, CM; Wright, AF; Auer-Grumbach, M; Toscano, A; Musumeci, O; Valentino, ML; Caporali, L; Lamperti, C; Tallaksen, CM; Duffey, P; Miller, J; Whittaker, RG; Baker, MR; Jackson, MJ; Clarke, MP; Dhillon, B; Czermin, B; Stewart, JD; Hudson, G; Reynier, P; Bonneau, D; Marques, W; Lenaers, G; McFarland, R; Taylor, RW; Turnbull, DM; Votruba, M; Zeviani, M; Carelli, V; Bindoff, LA; Horvath, R; Amati-Bonneau, P; Chinnery, PF Multi-system neurological disease is common in patients with OPA1 mutations.
Brain. 2010; 133(Pt 3): 771-786. Doi: 10.1093/brain/awq007 [OPEN ACCESS]
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2009

Acham-Roschitz, B; Plecko, B; Lindbichler, F; Bittner, R; Mache, CJ; Sperl, W; Mayr, JA A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.
Mol Genet Metab. 2009; 98(3):300-304 Doi: 10.1016/j.ymgme.2009.06.012 (- Case Report)
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Kofler, B; Mueller, EE; Eder, W; Stanger, O; Maier, R; Weger, M; Haas, A; Winker, R; Schmut, O; Paulweber, B; Iglseder, B; Renner, W; Wiesbauer, M; Aigner, I; Santic, D; Zimmermann, FA; Mayr, JA; Sperl, W Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study.
BMC Med Genet. 2009; 10(8):35-35 Doi: 10.1186/1471-2350-10-35 [OPEN ACCESS]
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von Wurmb-Schwark, N; Preusse-Prange, A; Heinrich, A; Simeoni, E; Bosch, T; Schwark, T A new multiplex-PCR comprising autosomal and y-specific STRs and mitochondrial DNA to analyze highly degraded material.
Forensic Sci Int Genet. 2009; 3(2): 96-103. Doi: 10.1016/j.fsigen.2008.11.007
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2008

Mayr, JA; Meierhofer, D; Zimmermann, F; Feichtinger, R; Kogler, C; Ratschek, M; Schmeller, N; Sperl, W; Kofler, B Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma.
Clin Cancer Res. 2008; 14(8):2270-2275 Doi: 10.1158/1078-0432.CCR-07-4131 [OPEN ACCESS]
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von Wurmb-Schwark, N; Ringleb, A; Schwark, T; Broese, T; Weirich, S; Schlaefke, D; Wegener, R; Oehmichen, M The effect of chronic alcohol consumption on mitochondrial DNA mutagenesis in human blood.
Mutat Res. 2008; 637(1-2): 73-79. Doi: 10.1016/j.mrfmmm.2007.07.003
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2007

Dhandapany, PS; Sadayappan, S; Vanniarajan, A; Karthikeyan, B; Nagaraj, C; Gowrishankar, K; Selvam, GS; Singh, L; Thangaraj, K Novel mitochondrial DNA mutations implicated in Noonan syndrome.
Int J Cardiol. 2007; 120(2): 284-285. Doi: 10.1016/j.ijcard.2006.07.229 (- Case Report)
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2005

Darok, M; Reichenpfader, B; Roll, P Finding of a skeleton in the Altaussee Lake--a forensic odyssey.
Forensic Sci Int. 2005; 147 Suppl:S45-S47 Doi: 10.1016/j.forsciint.2004.09.088
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2004

von Wurmb-Schwark, N; Schwark, T; Harbeck, M; Oehmichen, M A simple Duplex-PCR to evaluate the DNA quality of anthropological and forensic samples prior short tandem repeat typing.
Leg Med (Tokyo). 2004; 6(2): 80-88. Doi: 10.1016/j.legalmed.2003.10.002
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2003

Skladal, D; Sudmeier, C; Konstantopoulou, V; Stöckler-Ipsiroglu, S; Plecko-Startinig, B; Bernert, G; Zeman, J; Sperl, W The clinical spectrum of mitochondrial disease in 75 pediatric patients.
Clin Pediatr (Phila). 2003; 42(8):703-710 Doi: 10.1177/000992280304200806
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von Wurmb-Schwark, N; Schwark, T; Meissner, C; Oehmichen, M Mitochondrial mutagenesis in the brain in forensic and pathological research.
Leg Med (Tokyo). 2003; 5(1):1-6 Doi: 10.1016/S1344-6223(03)00003-8
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2000

Guertl, B; Noehammer, C; Hoefler, G Metabolic cardiomyopathies.
INT J EXP PATHOL 2000 81: 349-372. Doi: 10.1046%2Fj.1365-2613.2000.00186.x [OPEN ACCESS]
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