Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

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Publikationen

Suchbegriffe: POINT MUTATION - , . Treffer: 33

2018

El-Heliebi, A; Hille, C; Laxman, N; Svedlund, J; Haudum, C; Ercan, E; Kroneis, T; Chen, S; Smolle, M; Rossmann, C; Krzywkowski, T; Ahlford, A; Darai, E; von Amsberg, G; Alsdorf, W; König, F; Löhr, M; de Kruijff, I; Riethdorf, S; Gorges, TM; Pantel, K; Bauernhofer, T; Nilsson, M; Sedlmayr, P In Situ Detection and Quantification of AR-V7, AR-FL, PSA, and KRAS Point Mutations in Circulating Tumor Cells.
Clin Chem. 2018; 64(3):536-546 [OPEN ACCESS]
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Rengachari, S; Groiss, S; Devos, JM; Caron, E; Grandvaux, N; Panne, D Structural basis of STAT2 recognition by IRF9 reveals molecular insights into ISGF3 function.
Proc Natl Acad Sci U S A. 2018; 115(4): E601-E609. [OPEN ACCESS]
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2017

Aung, T; Ozaki, M; Lee, MC; Schlötzer-Schrehardt, U; Thorleifsson, G; Mizoguchi, T; Igo, RP; Haripriya, A; Williams, SE; Astakhov, YS; Orr, AC; Burdon, KP; Nakano, S; Mori, K; Abu-Amero, K; Hauser, M; Li, Z; Prakadeeswari, G; Bailey, JNC; Cherecheanu, AP; Kang, JH; Nelson, S; Hayashi, K; Manabe, SI; Kazama, S; Zarnowski, T; Inoue, K; Irkec, M; Coca-Prados, M; Sugiyama, K; Järvelä, I; Schlottmann, P; Lerner, SF; Lamari, H; Nilgün, Y; Bikbov, M; Park, KH; Cha, SC; Yamashiro, K; Zenteno, JC; Jonas, JB; Kumar, RS; Perera, SA; Chan, ASY; Kobakhidze, N; George, R; Vijaya, L; Do, T; Edward, DP; de Juan Marcos, L; Pakravan, M; Moghimi, S; Ideta, R; Bach-Holm, D; Kappelgaard, P; Wirostko, B; Thomas, S; Gaston, D; Bedard, K; Greer, WL; Yang, Z; Chen, X; Huang, L; Sang, J; Jia, H; Jia, L; Qiao, C; Zhang, H; Liu, X; Zhao, B; Wang, YX; Xu, L; Leruez, S; Reynier, P; Chichua, G; Tabagari, S; Uebe, S; Zenkel, M; Berner, D; Mossböck, G; Weisschuh, N; Hoja, U; Welge-Luessen, UC; Mardin, C; Founti, P; Chatzikyriakidou, A; Pappas, T; Anastasopoulos, E; Lambropoulos, A; Ghosh, A; Shetty, R; Porporato, N; Saravanan, V; Venkatesh, R; Shivkumar, C; Kalpana, N; Sarangapani, S; Kanavi, MR; Beni, AN; Yazdani, S; Lashay, A; Naderifar, H; Khatibi, N; Fea, A; Lavia, C; Dallorto, L; Rolle, T; Frezzotti, P; Paoli, D; Salvi, E; Manunta, P; Mori, Y; Miyata, K; Higashide, T; Chihara, E; Ishiko, S; Yoshida, A; Yanagi, M; Kiuchi, Y; Ohashi, T; Sakurai, T; Sugimoto, T; Chuman, H; Aihara, M; Inatani, M; Miyake, M; Gotoh, N; Matsuda, F; Yoshimura, N; Ikeda, Y; Ueno, M; Sotozono, C; Jeoung, JW; Sagong, M; Park, KH; Ahn, J; Cruz-Aguilar, M; Ezzouhairi, SM; Rafei, A; Chong, YF; Ng, XY; Goh, SR; Chen, Y; Yong, VHK; Khan, MI; Olawoye, OO; Ashaye, AO; Ugbede, I; Onakoya, A; Kizor-Akaraiwe, N; Teekhasaenee, C; Suwan, Y; Supakontanasan, W; Okeke, S; Uche, NJ; Asimadu, I; Ayub, H; Akhtar, F; Kosior-Jarecka, E; Lukasik, U; Lischinsky, I; Castro, V; Grossmann, RP; Sunaric Megevand, G; Roy, S; Dervan, E; Silke, E; Rao, A; Sahay, P; Fornero, P; Cuello, O; Sivori, D; Zompa, T; Mills, RA; Souzeau, E; Mitchell, P; Wang, JJ; Hewitt, AW; Coote, M; Crowston, JG; Astakhov, SY; Akopov, EL; Emelyanov, A; Vysochinskaya, V; Kazakbaeva, G; Fayzrakhmanov, R; Al-Obeidan, SA; Owaidhah, O; Aljasim, LA; Chowbay, B; Foo, JN; Soh, RQ; Sim, KS; Xie, Z; Cheong, AWO; Mok, SQ; Soo, HM; Chen, XY; Peh, SQ; Heng, KK; Husain, R; Ho, SL; Hillmer, AM; Cheng, CY; Escudero-Domínguez, FA; González-Sarmiento, R; Martinon-Torres, F; Salas, A; Pathanapitoon, K; Hansapinyo, L; Wanichwecharugruang, B; Kitnarong, N; Sakuntabhai, A; Nguyn, HX; Nguyn, GTT; Nguyn, TV; Zenz, W; Binder, A; Klobassa, DS; Hibberd, ML; Davila, S; Herms, S; Nöthen, MM; Moebus, S; Rautenbach, RM; Ziskind, A; Carmichael, TR; Ramsay, M; Álvarez, L; García, M; González-Iglesias, H; Rodríguez-Calvo, PP; Fernández-Vega Cueto, L; Oguz, Ç; Tamcelik, N; Atalay, E; Batu, B; Aktas, D; Kasım, B; Wilson, MR; Coleman, AL; Liu, Y; Challa, P; Herndon, L; Kuchtey, RW; Kuchtey, J; Curtin, K; Chaya, CJ; Crandall, A; Zangwill, LM; Wong, TY; Nakano, M; Kinoshita, S; den Hollander, AI; Vesti, E; Fingert, JH; Lee, RK; Sit, AJ; Shingleton, BJ; Wang, N; Cusi, D; Qamar, R; Kraft, P; Pericak-Vance, MA; Raychaudhuri, S; Heegaard, S; Kivelä, T; Reis, A; Kruse, FE; Weinreb, RN; Pasquale, LR; Haines, JL; Thorsteinsdottir, U; Jonasson, F; Allingham, RR; Milea, D; Ritch, R; Kubota, T; Tashiro, K; Vithana, EN; Micheal, S; Topouzis, F; Craig, JE; Dubina, M; Sundaresan, P; Stefansson, K Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
Nat Genet. 2017; 49(7):993-1004 [OPEN ACCESS]
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2016

Anvarian, Z; Nojima, H; van Kappel, EC; Madl, T; Spit, M; Viertler, M; Jordens, I; Low, TY; van Scherpenzeel, RC; Kuper, I; Richter, K; Heck, AJ; Boelens, R; Vincent, JP; Rüdiger, SG; Maurice, MM Axin cancer mutants form nanoaggregates to rewire the Wnt signaling network.
Nat Struct Mol Biol. 2016; 23(4):324-332
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Derler, I; Jardin, I; Stathopulos, PB; Muik, M; Fahrner, M; Zayats, V; Pandey, SK; Poteser, M; Lackner, B; Absolonova, M; Schindl, R; Groschner, K; Ettrich, R; Ikura, M; Romanin, C Cholesterol modulates Orai1 channel function.
Sci Signal. 2016; 9(412):ra10-ra10 [OPEN ACCESS]
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Srivastava, K; Polin, H; Sheldon, SL; Wagner, FF; Grabmer, C; Gabriel, C; Denomme, GA; Flegel, WA The DAU cluster: a comparative analysis of 18 RHD alleles, some forming partial D antigens.
Transfusion. 2016; 56(10):2520-2531 [OPEN ACCESS]
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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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Zierer, BK; Rübbelke, M; Tippel, F; Madl, T; Schopf, FH; Rutz, DA; Richter, K; Sattler, M; Buchner, J Importance of cycle timing for the function of the molecular chaperone Hsp90.
Nat Struct Mol Biol. 2016; 23(11):1020-1028 [OPEN ACCESS]
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2014

Polin, H; Gaszner, W; Suessner, S; Danzer, M; Gabriel, C Identification of a novel Kmod -1 allele encoded by 977C>T (Pro326Leu).
Transfusion. 2014; 54(8): 2130-2131.
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Prüller, F; Weiss, EC; Raggam, RB; Cervar-Zivkovic, M; Renner, W; Wagner, J; Michaelis, S; März, W; Mangge, H Activated protein C resistance assay and factor V Leiden.
N Engl J Med. 2014; 371(7):685-686 [OPEN ACCESS]
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Stadelmeyer, E; Heitzer, E; Resel, M; Cerroni, L; Wolf, P; Dandachi, N The BRAF V600K mutation is more frequent than the BRAF V600E mutation in melanoma in situ of lentigo maligna type.
J Invest Dermatol. 2014; 134(2):548-550 [OPEN ACCESS]
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2013

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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Prüller, F; Raggam, RB; Mangge, H; Truschnig-Wilders, M; Matzhold, EM; Weiss, EC; Hasiba, B; Summers, KL; Renner, W; Siegert, G; Kostka, H A novel factor V mutation causes a normal activated protein C ratio despite the presence of a heterozygous F5 R506Q (factor V Leiden) mutation.
Br J Haematol. 2013; 163(3):414-417 [OPEN ACCESS]
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2012

Németh, S; Riedl, S; Kriegshäuser, G; Baumgartner-Parzer, S; Concolino, P; Neocleous, V; Phylactou, LA; Borucka-Mankiewicz, M; Onay, H; Tukun, A; Oberkanins, C Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone.
Clin Chim Acta. 2012; 414(3): 211-214.
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2010

Gary, T; Hafner, F; Froehlich, H; Stojakovic, T; Scharnagl, H; Pilger, E; Brodmann, M High factor VIII activity, high plasminogen activator inhibitor 1 antigen levels and low factor XII activity contribute to a thrombophilic tendency in elderly venous thromboembolism patients.
Acta Haematol. 2010; 124(4): 214-217.
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Güttler, T; Madl, T; Neumann, P; Deichsel, D; Corsini, L; Monecke, T; Ficner, R; Sattler, M; Görlich, D NES consensus redefined by structures of PKI-type and Rev-type nuclear export signals bound to CRM1.
Nat Struct Mol Biol. 2010; 17(11): 1367-1376. [OPEN ACCESS]
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Mueller, M; Kratzer, R; Schiller, M; Slavica, A; Rechberger, G; Kollroser, M; Nidetzky, B The role of Cys108 in Trigonopsis variabilisd-amino acid oxidase examined through chemical oxidation studies and point mutations C108S and C108D.
Biochim Biophys Acta. 2010; 1804(7):1483-1491 [OPEN ACCESS]
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Terheyden, P; Houben, R; Pajouh, P; Thorns, C; Zillikens, D; Becker, JC Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene.
J Invest Dermatol. 2010; 130(1):314-316 (- Case Report) [OPEN ACCESS]
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2009

Liu, ZY; Obenauf, AC; Speicher, MR; Kopan, R Rapid identification of homologous recombinants and determination of gene copy number with reference/query pyrosequencing (RQPS).
GENOME RES. 2009; 19(11): 2081-2089. [OPEN ACCESS]
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2006

Lassacher, A; Worda, M; Kaddu, S; Heitzer, E; Legat, F; Massone, C; Cerroni, L; Kerl, H; Ananthaswamy, HN; Wolf, P T1799A BRAF mutation is common in PUVA lentigines.
J Invest Dermatol. 2006; 126(8):1915-1917 [OPEN ACCESS]
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Madl, T; Van Melderen, L; Mine, N; Respondek, M; Oberer, M; Keller, W; Khatai, L; Zangger, K Structural basis for nucleic acid and toxin recognition of the bacterial antitoxin CcdA.
J Mol Biol. 2006; 364(2): 170-185.
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2005

Cauza, E; Hanusch-Enserer, U; Bischof, M; Spak, M; Kostner, K; Tammaa, A; Dunky, A; Ferenci, P Increased C282Y heterozygosity in gestational diabetes.
Fetal Diagn Ther. 2005; 20(5):349-354
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Körmöczi, GF; Förstemann, E; Gabriel, C; Mayr, WR; Schönitzer, D; Gassner, C Novel weak D types 31 and 32: adsorption-elution-supported D antigen analysis and comparison to prevalent weak D types.
Transfusion. 2005; 45(10): 1574-1580.
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2003

Halsall, DJ; Kriegshäuser, G; Moritz, A; Elsey, TS; Oberkanins, C Rapid genetic testing for Gaucher disease by reverse hybridization.
Ann Clin Biochem. 2003; 40(Pt 4):419-421 [OPEN ACCESS]
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Krippl, P; Langsenlehner, U; Renner, W; Yazdani-Biuki, B; Wolf, G; Wascher, TC; Paulweber, B; Haas, J; Samonigg, H A common 936 C/T gene polymorphism of vascular endothelial growth factor is associated with decreased breast cancer risk.
Int J Cancer. 2003; 106(4):468-471 [OPEN ACCESS]
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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
PubMed

 

2001

Haghighi, K; Schmidt, AG; Hoit, BD; Brittsan, AG; Yatani, A; Lester, JW; Zhai, J; Kimura, Y; Dorn, GW; MacLennan, DH; Kranias, EG Superinhibition of sarcoplasmic reticulum function by phospholamban induces cardiac contractile failure.
J Biol Chem. 2001; 276(26): 24145-24152. [OPEN ACCESS]
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Hochhaus, A; Kreil, S; Corbin, A; La Rosée, P; Lahaye, T; Berger, U; Cross, NC; Linkesch, W; Druker, BJ; Hehlmann, R; Gambacorti- Passerini, C; Corneo, G; D'Incalci, M Roots of clinical resistance to STI-571 cancer therapy.
Science. 2001; 293(5538):2163-2163 [OPEN ACCESS]
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Paschke, E; Milos, I; Kreimer-Erlacher, H; Hoefler, G; Beck, M; Hoeltzenbein, M; Kleijer, W; Levade, T; Michelakakis, H; Radeva, B Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.
Hum Genet. 2001; 109(2):159-166 (- Case Report)
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2000

Zvaritch, E; Backx, PH; Jirik, F; Kimura, Y; de Leon, S; Schmidt, AG; Hoit, BD; Lester, JW; Kranias, EG; MacLennan, DH The transgenic expression of highly inhibitory monomeric forms of phospholamban in mouse heart impairs cardiac contractility.
J Biol Chem. 2000; 275(20): 14985-14991. [OPEN ACCESS]
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1998

Fargnoli, MC; Chimenti, S; Keller, G; Soyer, HP; Dal Pozzo, V; Höfler, H; Peris, K CDKN2a/p16INK4a mutations and lack of p19ARF involvement in familial melanoma kindreds.
J Invest Dermatol. 1998; 111(6):1202-1206 [OPEN ACCESS]
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1997

Halbmayer, WM; Haushofer, A; Angerer, V; Finsterer, J; Fischer, M APC resistance and factor V Leiden (FV:Q506) mutation in patients with ischemic cerebral events. Vienna Thrombophilia in Stroke Study Group (VITISS)
Blood Coagul Fibrinolysis. 1997; 8(6):361-364
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1996

Trautwein, C; Schrem, H; Tillmann, HL; Kubicka, S; Walker, D; Böker, KH; Maschek, HJ; Pichlmayr, R; Manns, MP Hepatitis B virus mutations in the pre-S genome before and after liver transplantation.
Hepatology. 1996; 24(3):482-488
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