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2018

Matzhold, EM; Drexler, C; Staudacher, E; Glock, B; Wagner, T A novel variant B allele at the ABO gene locus characterized by a duplication-based insertion of 27 nucleotides identified in an Iraqi male with a weak B subgroup phenotype.
TRANSFUSION. 2018; 58(5): 1318-1319. (- Case Report) [OPEN ACCESS]
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2017

Jahic, A; Hinreiner, S; Emberger, W; Hehr, U; Zuchner, S; Beetz, C Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions.
Hum Mutat. 2017; 38(3):275-278
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Kintz, E; Heiss, C; Black, I; Donohue, N; Brown, N; Davies, MR; Azadi, P; Baker, S; Kaye, PM; van der Woude, M Salmonella enterica Serovar Typhi Lipopolysaccharide O-Antigen Modification Impact on Serum Resistance and Antibody Recognition.
Infect Immun. 2017; 85(4): [OPEN ACCESS]
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Ofner, R; Ritter, C; Ugurel, S; Cerroni, L; Stiller, M; Bogenrieder, T; Solca, F; Schrama, D; Becker, JC Non-reproducible sequence artifacts in FFPE tissue: an experience report.
J Cancer Res Clin Oncol. 2017; 143(7):1199-1207 [OPEN ACCESS]
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2016

Hartmann, L; Dutta, S; Opatz, S; Vosberg, S; Reiter, K; Leubolt, G; Metzeler, KH; Herold, T; Bamopoulos, SA; Bräundl, K; Zellmeier, E; Ksienzyk, B; Konstandin, NP; Schneider, S; Hopfner, KP; Graf, A; Krebs, S; Blum, H; Middeke, JM; Stölzel, F; Thiede, C; Wolf, S; Bohlander, SK; Preiss, C; Chen-Wichmann, L; Wichmann, C; Sauerland, MC; Büchner, T; Berdel, WE; Wörmann, BJ; Braess, J; Hiddemann, W; Spiekermann, K; Greif, PA ZBTB7A mutations in acute myeloid leukaemia with t(8;21) translocation.
Nat Commun. 2016; 7:11733-11733 [OPEN ACCESS]
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Polin, H; Pelc-Klopotowska, M; Danzer, M; Suessner, S; Gabriel, C; Wilflingseder, J; Żmudzin, A; Orzińska, A; Guz, K; Michalewska, B; Brojer, E Compound heterozygosity of two novel RHAG alleles leads to a considerable disruption of the Rh complex.
Transfusion. 2016; 56(4):950-955 (- Case Report)
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Ulrich, S; Posch, U; Helmberg, W; Schlenke, P HLA-A*68:02:11, a new HLA-A*68 allele identified during family HLA typing.
HLA. 2016; 88(4):197-198
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2015

Boch, T; Reinwald, M; Postina, P; Cornely, OA; Vehreschild, JJ; Heußel, CP; Heinz, WJ; Hoenigl, M; Eigl, S; Lehrnbecher, T; Hahn, J; Claus, B; Lauten, M; Egerer, G; Müller, MC; Will, S; Merker, N; Hofmann, WK; Buchheidt, D; Spiess, B Identification of invasive fungal diseases in immunocompromised patients by combining an Aspergillus specific PCR with a multifungal DNA-microarray from primary clinical samples.
Mycoses. 2015; 58(12):735-745
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Chromikova, V; Mader, A; Hofbauer, S; Göbl, C; Madl, T; Gach, JS; Bauernfried, S; Furtmüller, PG; Forthal, DN; Mach, L; Obinger, C; Kunert, R Introduction of germline residues improves the stability of anti-HIV mAb 2G12-IgM.
Biochim Biophys Acta. 2015; 1854(10 Pt A):1536-1544 [OPEN ACCESS]
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Kassner, U; Salewsky, B; Wühle-Demuth, M; Szijarto, IA; Grenkowitz, T; Binner, P; März, W; Steinhagen-Thiessen, E; Demuth, I Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants.
Eur J Hum Genet. 2015; 23(9):1259-1261 (- Case Report) [OPEN ACCESS]
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Rafiq, MA; Leblond, CS; Saqib, MA; Vincent, AK; Ambalavanan, A; Khan, FS; Ayaz, M; Shaheen, N; Spiegelman, D; Ali, G; Amin-ud-Din, M; Laurent, S; Mahmood, H; Christian, M; Ali, N; Fennell, A; Nanjiani, Z; Egger, G; Caron, C; Waqas, A; Ayub, M; Rasheed, S; Forgeot d'Arc, B; Johnson, A; So, J; Brohi, MQ; Mottron, L; Ansar, M; Vincent, JB; Xiong, L Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
BMC Med Genet. 2015; 16(7):41-41 (- Case Report) [OPEN ACCESS]
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Wagner, B; Melzer, H; Freymüller, G; Stumvoll, S; Rendi-Wagner, P; Paulke-Korinek, M; Repa, A; Mooi, FR; Kollaritsch, H; Mittermayer, H; Kessler, HH; Stanek, G; Steinborn, R; Duchêne, M; Wiedermann, U Genetic Variation of Bordetella pertussis in Austria.
PLoS One. 2015; 10(7):e0132623-e0132623 [OPEN ACCESS]
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Zopf, A; Raim, R; Danzer, M; Niklas, N; Spilka, R; Pröll, J; Gabriel, C; Nechansky, A; Roucka, M Introduction of the hybcell-based compact sequencing technology and comparison to state-of-the-art methodologies for KRAS mutation detection.
Biotechniques. 2015; 58(3):126-134 [OPEN ACCESS]
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2014

Akilzhanova, A; Guelly, C; Nuralinov, O; Nurkina, Z; Nazhat, D; Smagulov, S; Tursunbekov, A; Alzhanova, A; Rashbayeva, G; Abdrakhmanov, A; Dosmagambet, S; Trajanoski, S; Zhumadilov, Z; Sharman, A; Bekbosynova, M RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort.
PLoS One. 2014; 9(6):e101059-e101059 (- Case Report) [OPEN ACCESS]
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Bernkopf, M; Webersinke, G; Tongsook, C; Koyani, CN; Rafiq, MA; Ayaz, M; Müller, D; Enzinger, C; Aslam, M; Naeem, F; Schmidt, K; Gruber, K; Speicher, MR; Malle, E; Macheroux, P; Ayub, M; Vincent, JB; Windpassinger, C; Duba, HC Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
Hum Mol Genet. 2014; 23(15):4015-4023 [OPEN ACCESS]
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Goessweiner-Mohr, N; Eder, M; Hofer, G; Fercher, C; Arends, K; Birner-Gruenberger, R; Grohmann, E; Keller, W Structure of the double-stranded DNA-binding type IV secretion protein TraN from Enterococcus.
Acta Crystallogr D Biol Crystallogr. 2014; 70(Pt 9):2376-2389 [OPEN ACCESS]
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Heidenreich, B; Nagore, E; Rachakonda, PS; Garcia-Casado, Z; Requena, C; Traves, V; Becker, J; Soufir, N; Hemminki, K; Kumar, R Telomerase reverse transcriptase promoter mutations in primary cutaneous melanoma.
Nat Commun. 2014; 5(5):3401-3401 [OPEN ACCESS]
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Hetz, S; Acikgoez, A; Voss, U; Nieber, K; Holland, H; Hegewald, C; Till, H; Metzger, R; Metzger, M In vivo transplantation of neurosphere-like bodies derived from the human postnatal and adult enteric nervous system: a pilot study.
PLoS One. 2014; 9(4):e93605-e93605 [OPEN ACCESS]
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Kastner, R; Zopf, A; Preuner, S; Pröll, J; Niklas, N; Foskett, P; Valent, P; Lion, T; Gabriel, C Rapid identification of compound mutations in patients with Philadelphia-positive leukaemias by long-range next generation sequencing.
Eur J Cancer. 2014; 50(4): 793-800. [OPEN ACCESS]
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Khan, MA; Rupp, V; Khan, MA; Khan, MP; Ansar, M; Windpassinger, C Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene.
J Genet. 2014; 93(2):527-530 [OPEN ACCESS]
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Khan, MA; Rupp, VM; Orpinell, M; Hussain, MS; Altmüller, J; Steinmetz, MO; Enzinger, C; Thiele, H; Höhne, W; Nürnberg, G; Baig, SM; Ansar, M; Nürnberg, P; Vincent, JB; Speicher, MR; Gönczy, P; Windpassinger, C A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Hum Mol Genet. 2014; 23(22):5940-5949 [OPEN ACCESS]
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Kienesberger, S; Sprenger, H; Wolfgruber, S; Halwachs, B; Thallinger, GG; Perez-Perez, GI; Blaser, MJ; Zechner, EL; Gorkiewicz, G Comparative genome analysis of Campylobacter fetus subspecies revealed horizontally acquired genetic elements important for virulence and niche specificity.
PLoS One. 2014; 9(1):e85491-e85491 [OPEN ACCESS]
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Lee, W; Teckie, S; Wiesner, T; Ran, L; Prieto Granada, CN; Lin, M; Zhu, S; Cao, Z; Liang, Y; Sboner, A; Tap, WD; Fletcher, JA; Huberman, KH; Qin, LX; Viale, A; Singer, S; Zheng, D; Berger, MF; Chen, Y; Antonescu, CR; Chi, P PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors.
Nat Genet. 2014; 46(11): 1227-1232. [OPEN ACCESS]
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Liu, L; Huang, C; He, ZG A TetR family transcriptional factor directly regulates the expression of a 3-methyladenine DNA glycosylase and physically interacts with the enzyme to stimulate its base excision activity in Mycobacterium bovis BCG.
J Biol Chem. 2014; 289(13):9065-9075 [OPEN ACCESS]
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Niklas, N; Pröll, J; Weinberger, J; Zopf, A; Wiesinger, K; Krismer, K; Bettelheim, P; Gabriel, C Qualifying high-throughput immune repertoire sequencing.
Cell Immunol. 2014; 288(1-2): 31-38.
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Polin, H; Danzer, M; Reiter, A; Brisner, M; Gaszner, W; Weinberger, J; Gabriel, C MN typing discrepancies based on GYPA-B-A hybrid.
Vox Sang. 2014; 107(4):393-398
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Shah, MH; Bhat, V; Shetty, JS; Kumar, A Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.
Mol Vis. 2014; 20(4):790-796 (- Case Report) [OPEN ACCESS]
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Wiesner, T; He, J; Yelensky, R; Esteve-Puig, R; Botton, T; Yeh, I; Lipson, D; Otto, G; Brennan, K; Murali, R; Garrido, M; Miller, VA; Ross, JS; Berger, MF; Sparatta, A; Palmedo, G; Cerroni, L; Busam, KJ; Kutzner, H; Cronin, MT; Stephens, PJ; Bastian, BC Kinase fusions are frequent in Spitz tumours and spitzoid melanomas.
Nat Commun. 2014; 5(5):3116-3116 [OPEN ACCESS]
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2013

Bauer, R; Plieschnig, JA; Finkes, T; Riegler, B; Hermann, M; Schneider, WJ The developing chicken yolk sac acquires nutrient transport competence by an orchestrated differentiation process of its endodermal epithelial cells.
J Biol Chem. 2013; 288(2): 1088-1098. [OPEN ACCESS]
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Duszka, K; Bogner-Strauss, JG; Hackl, H; Rieder, D; Neuhold, C; Prokesch, A; Trajanoski, Z; Krogsdam, AM Nr4a1 is required for fasting-induced down-regulation of Pparγ2 in white adipose tissue.
Mol Endocrinol. 2013; 27(1): 135-149. [OPEN ACCESS]
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Eggermann, T; Spengler, S; Denecke, B; Zerres, K; Mache, CJ Multi-exon deletion in the XDH gene as a cause of classical xanthinuria.
Clin Nephrol. 2013; 79(1):78-80 (- Case Report)
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Eißmann, M; Melzer, IM; Fernández, SB; Michel, G; Hrabě de Angelis, M; Hoefler, G; Finkenwirth, P; Jauch, A; Schoell, B; Grez, M; Schmidt, M; Bartholomae, CC; Newrzela, S; Haetscher, N; Rieger, MA; Zachskorn, C; Mittelbronn, M; Zörnig, M Overexpression of the anti-apoptotic protein AVEN contributes to increased malignancy in hematopoietic neoplasms.
Oncogene. 2013; 32(20):2586-2591
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Fischer, C; Koblmüller, S; Gülly, C; Schlötterer, C; Sturmbauer, C; Thallinger, GG Complete mitochondrial DNA sequences of the threadfin cichlid (Petrochromis trewavasae) and the blunthead cichlid (Tropheus moorii) and patterns of mitochondrial genome evolution in cichlid fishes.
PLoS One. 2013; 8(6):e67048-e67048 [OPEN ACCESS]
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Gottschalk, B; Klein, A Restoration of wild-type p53 in drug-resistant mouse breast cancer cells leads to differential gene expression, but is not sufficient to overcome the malignant phenotype.
Mol Cell Biochem. 2013; 379(1-2): 213-227.
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Ivashov, VA; Grillitsch, K; Koefeler, H; Leitner, E; Baeumlisberger, D; Karas, M; Daum, G Lipidome and proteome of lipid droplets from the methylotrophic yeast Pichia pastoris.
Biochim Biophys Acta. 2013; 1831(2):282-290 [OPEN ACCESS]
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Lionel, AC; Vaags, AK; Sato, D; Gazzellone, MJ; Mitchell, EB; Chen, HY; Costain, G; Walker, S; Egger, G; Thiruvahindrapuram, B; Merico, D; Prasad, A; Anagnostou, E; Fombonne, E; Zwaigenbaum, L; Roberts, W; Szatmari, P; Fernandez, BA; Georgieva, L; Brzustowicz, LM; Roetzer, K; Kaschnitz, W; Vincent, JB; Windpassinger, C; Marshall, CR; Trifiletti, RR; Kirmani, S; Kirov, G; Petek, E; Hodge, JC; Bassett, AS; Scherer, SW Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Hum Mol Genet. 2013; 22(10):2055-2066 [OPEN ACCESS]
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Merkel, OM; Marsh, LM; Garn, H; Kissel, T Flow cytometry-based cell type-specific assessment of target regulation by pulmonary siRNA delivery.
Methods Mol Biol. 2013; 948(3):263-273 [OPEN ACCESS]
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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. [OPEN ACCESS]
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Novakovic, B; Gordon, L; Robinson, WP; Desoye, G; Saffery, R Glucose as a fetal nutrient: dynamic regulation of several glucose transporter genes by DNA methylation in the human placenta across gestation.
J Nutr Biochem. 2013; 24(1):282-288
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Probst, AJ; Auerbach, AK; Moissl-Eichinger, C Archaea on human skin.
PLoS One. 2013; 8(6):e65388-e65388 [OPEN ACCESS]
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Schwendner, P; Moissl-Eichinger, C; Barczyk, S; Bohmeier, M; Pukall, R; Rettberg, P Insights into the microbial diversity and bioburden in a South American spacecraft assembly clean room.
Astrobiology. 2013; 13(12):1140-1154
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Ulrich, S; Posch, U; Lanzer, G Detection of a new HLA-A allele, designated HLA-A*32:53.
Tissue Antigens. 2013; 82(5):348-348
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2012

Crnkovic, S; Riederer, M; Lechleitner, M; Hallström, S; Malli, R; Graier, WF; Lindenmann, J; Popper, H; Olschewski, H; Olschewski, A; Frank, S Docosahexaenoic acid-induced unfolded protein response, cell cycle arrest, and apoptosis in vascular smooth muscle cells are triggered by Ca²⁺-dependent induction of oxidative stress.
Free Radic Biol Med. 2012; 52(9):1786-1795 [OPEN ACCESS]
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Hafner, C; Houben, R; Baeurle, A; Ritter, C; Schrama, D; Landthaler, M; Becker, JC Activation of the PI3K/AKT pathway in Merkel cell carcinoma.
PLoS One. 2012; 7(2):e31255-e31255 [OPEN ACCESS]
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Huppke, P; Brendel, C; Kalscheuer, V; Korenke, GC; Marquardt, I; Freisinger, P; Christodoulou, J; Hillebrand, M; Pitelet, G; Wilson, C; Gruber-Sedlmayr, U; Ullmann, R; Haas, S; Elpeleg, O; Nürnberg, G; Nürnberg, P; Dad, S; Mller, LB; Kaler, SG; Gärtner, J Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
AM J HUM GENET. 2012; 90(1): 61-68. [OPEN ACCESS]
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Liu, SJ; Tetzlaff, MT; Liu, AH; Liegl-Atzwanger, B; Guo, J; Xu, XW; Loss of microRNA-205 expression is associated with melanoma progression.
Lab Invest. 2012; 92(7):1084-1096 [OPEN ACCESS]
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Simon, UK; Trajanoski, S; Kroneis, T; Sedlmayr, P; Guelly, C; Guttenberger, H Accession-specific haplotypes of the internal transcribed spacer region in Arabidopsis thaliana--a means for barcoding populations.
Mol Biol Evol. 2012; 29(9):2231-2239 [OPEN ACCESS]
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Tavanez, JP; Madl, T; Kooshapur, H; Sattler, M; Valcárcel, J hnRNP A1 proofreads 3' splice site recognition by U2AF.
Mol Cell. 2012; 45(3): 314-329. [OPEN ACCESS]
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2011

Ban, J; Jug, G; Mestdagh, P; Schwentner, R; Kauer, M; Aryee, DN; Schaefer, KL; Nakatani, F; Scotlandi, K; Reiter, M; Strunk, D; Speleman, F; Vandesompele, J; Kovar, H Hsa-mir-145 is the top EWS-FLI1-repressed microRNA involved in a positive feedback loop in Ewing's sarcoma.
Oncogene. 2011; 30(18): 2173-2180. [OPEN ACCESS]
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Dagdan, E; Morris, DW; Campbell, M; Hill, M; Rothermundt, M; Kästner, F; Hohoff, C; von Eiff, C; Krakowitzky, P; Gill, M; McKeon, P; Roche, S Functional assessment of a promoter polymorphism in S100B, a putative risk variant for bipolar disorder.
Am J Med Genet B Neuropsychiatr Genet. 2011; 156B(6):691-699
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