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Search Items: GENE DELETION - , . hits: 47

2018

Sukseree, S; László, L; Gruber, F; Bergmann, S; Narzt, MS; Nagelreiter, IM; Höftberger, R; Molnár, K; Rauter, G; Birngruber, T; Larue, L; Kovacs, GG; Tschachler, E; Eckhart, L Filamentous Aggregation of Sequestosome-1/p62 in Brain Neurons and Neuroepithelial Cells upon Tyr-Cre-Mediated Deletion of the Autophagy Gene Atg7.
Mol Neurobiol. 2018; 55(11):8425-8437 [OPEN ACCESS]
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2017

Abbasi, MR; Rifatbegovic, F; Brunner, C; Mann, G; Ziegler, A; Pötschger, U; Crazzolara, R; Ussowicz, M; Benesch, M; Ebetsberger-Dachs, G; Chan, GCF; Jones, N; Ladenstein, R; Ambros, IM; Ambros, PF Impact of Disseminated Neuroblastoma Cells on the Identification of the Relapse-Seeding Clone.
Clin Cancer Res. 2017; 23(15):4224-4232 (- Case Report) [OPEN ACCESS]
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Prokesch, A; Graef, FA; Madl, T; Kahlhofer, J; Heidenreich, S; Schumann, A; Moyschewitz, E; Pristoynik, P; Blaschitz, A; Knauer, M; Muenzner, M; Bogner-Strauss, JG; Dohr, G; Schulz, TJ; Schupp, M Liver p53 is stabilized upon starvation and required for amino acid catabolism and gluconeogenesis.
FASEB J. 2017; 31(2):732-742 [OPEN ACCESS]
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2016

Grabner, GF; Eichmann, TO; Wagner, B; Gao, Y; Farzi, A; Taschler, U; Radner, FP; Schweiger, M; Lass, A; Holzer, P; Zinser, E; Tschöp, MH; Yi, CX; Zimmermann, R Deletion of Monoglyceride Lipase in Astrocytes Attenuates Lipopolysaccharide-induced Neuroinflammation.
J Biol Chem. 2016; 291(2):913-923 [OPEN ACCESS]
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Themanns, M; Mueller, KM; Kessler, SM; Golob-Schwarzl, N; Mohr, T; Kaltenecker, D; Bourgeais, J; Paier-Pourani, J; Friedbichler, K; Schneller, D; Schlederer, M; Zebedin-Brandl, E; Terracciano, LM; Han, X; Kenner, L; Wagner, KU; Mikulits, W; Kozlov, AV; Heim, MH; Gouilleux, F; Haybaeck, J; Moriggl, R Hepatic Deletion of Janus Kinase 2 Counteracts Oxidative Stress in Mice.
Sci Rep. 2016; 6(4):34719-34719 [OPEN ACCESS]
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Ulz, P; Belic, J; Graf, R; Auer, M; Lafer, I; Fischereder, K; Webersinke, G; Pummer, K; Augustin, H; Pichler, M; Hoefler, G; Bauernhofer, T; Geigl, JB; Heitzer, E; Speicher, MR Whole-genome plasma sequencing reveals focal amplifications as a driving force in metastatic prostate cancer.
Nat Commun. 2016; 7(15):12008-12008 [OPEN ACCESS]
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Weber, J; Bao, H; Hartlmüller, C; Wang, Z; Windhager, A; Janowski, R; Madl, T; Jin, P; Niessing, D Structural basis of nucleic-acid recognition and double-strand unwinding by the essential neuronal protein Pur-alpha.
Elife. 2016; 5(7): [OPEN ACCESS]
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2015

Geiger, O; Hatzl, S; Kashofer, K; Hoefler, G; Wölfler, A; Sill, H; Zebisch, A Deletion of SPRY4 is a frequent event in secondary acute myeloid leukemia.
Ann Hematol. 2015; 94(11):1923-1924 [OPEN ACCESS]
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2014

Goeritzer, M; Schlager, S; Radovic, B; Madreiter, CT; Rainer, S; Thomas, G; Lord, CC; Sacks, J; Brown, AL; Vujic, N; Obrowsky, S; Sachdev, V; Kolb, D; Chandak, PG; Graier, WF; Sattler, W; Brown, JM; Kratky, D Deletion of CGI-58 or adipose triglyceride lipase differently affects macrophage function and atherosclerosis.
J Lipid Res. 2014; 55(12):2562-2575 [OPEN ACCESS]
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Lichtenegger, S; Bina, I; Roier, S; Bauernfeind, S; Keidel, K; Schild, S; Anthony, M; Reidl, J Characterization of lactate utilization and its implication on the physiology of Haemophilus influenzae.
Int J Med Microbiol. 2014; 304(3-4): 490-498. [OPEN ACCESS]
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Rao, S; Tortola, L; Perlot, T; Wirnsberger, G; Novatchkova, M; Nitsch, R; Sykacek, P; Frank, L; Schramek, D; Komnenovic, V; Sigl, V; Aumayr, K; Schmauss, G; Fellner, N; Handschuh, S; Glösmann, M; Pasierbek, P; Schlederer, M; Resch, GP; Ma, Y; Yang, H; Popper, H; Kenner, L; Kroemer, G; Penninger, JM A dual role for autophagy in a murine model of lung cancer.
Nat Commun. 2014; 5(5):3056-3056 [OPEN ACCESS]
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Shenje, LT; Andersen, P; Uosaki, H; Fernandez, L; Rainer, PP; Cho, GS; Lee, DI; Zhong, W; Harvey, RP; Kass, DA; Kwon, C Precardiac deletion of Numb and Numblike reveals renewal of cardiac progenitors.
Elife. 2014; 3(5):e02164-e02164 [OPEN ACCESS]
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Thorwarth, A; Schnittert-Hübener, S; Schrumpf, P; Müller, I; Jyrch, S; Dame, C; Biebermann, H; Kleinau, G; Katchanov, J; Schuelke, M; Ebert, G; Steininger, A; Bönnemann, C; Brockmann, K; Christen, HJ; Crock, P; deZegher, F; Griese, M; Hewitt, J; Ivarsson, S; Hübner, C; Kapelari, K; Plecko, B; Rating, D; Stoeva, I; Ropers, HH; Grüters, A; Ullmann, R; Krude, H Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
J Med Genet. 2014; 51(6): 375-387. [OPEN ACCESS]
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2013

Chitraju, C; Trötzmüller, M; Hartler, J; Wolinski, H; Thallinger, GG; Haemmerle, G; Zechner, R; Zimmermann, R; Köfeler, HC; Spener, F The impact of genetic stress by ATGL deficiency on the lipidome of lipid droplets from murine hepatocytes.
J Lipid Res. 2013; 54(8):2185-2194 [OPEN ACCESS]
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Murali, R; Wiesner, T; Scolyer, RA Tumours associated with BAP1 mutations.
Pathology. 2013; 45(2):116-126
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2012

Bassler, J; Klein, I; Schmidt, C; Kallas, M; Thomson, E; Wagner, MA; Bradatsch, B; Rechberger, G; Strohmaier, H; Hurt, E; Bergler, H; The Conserved Bud20 Zinc Finger Protein Is a New Component of the Ribosomal 60S Subunit Export Machinery.
MOL CELL BIOL. 2012; 32(24): 4898-4912. [OPEN ACCESS]
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Fried, I; Wölfler, A; Quehenberger, F; Hoefler, G; Sill, H; Zebisch, A Mutations inDNMT3A and loss of RKIP are independent events in acute monocytic leukemia.
Haematologica. 2012; 97(12):1936-1937 [OPEN ACCESS]
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2011

Carmona-Gutiérrez, D; Bauer, MA; Ring, J; Knauer, H; Eisenberg, T; Büttner, S; Ruckenstuhl, C; Reisenbichler, A; Magnes, C; Rechberger, GN; Birner-Gruenberger, R; Jungwirth, H; Fröhlich, KU; Sinner, F; Kroemer, G; Madeo, F The propeptide of yeast cathepsin D inhibits programmed necrosis.
Cell Death Dis. 2011; 2(16):e161-e161 [OPEN ACCESS]
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Horvath, SE; Wagner, A; Steyrer, E; Daum, G Metabolic link between phosphatidylethanolamine and triacylglycerol metabolism in the yeast Saccharomyces cerevisiae.
Biochim Biophys Acta. 2011; 1811(12): 1030-1037. [OPEN ACCESS]
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Zung, A; Petek, E; Ben-Zeev, B; Schwarzbraun, T; Ben-Yehoshua, SJ MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome.
Am J Med Genet A. 2011; 155A(10):2469-2472
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2010

Connerth, M; Czabany, T; Wagner, A; Zellnig, G; Leitner, E; Steyrer, E; Daum, G Oleate inhibits steryl ester synthesis and causes liposensitivity in yeast.
J Biol Chem. 2010; 285(35): 26832-26841. [OPEN ACCESS]
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Fröhlich, LF; Mrakovcic, M; Steinborn, R; Chung, UI; Bastepe, M; Jüppner, H Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib.
Proc Natl Acad Sci U S A. 2010; 107(20): 9275-9280. [OPEN ACCESS]
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Köse, O; Zimmerhackl, LB; Jungraithmayr, T; Mache, C; Nürnberger, J New treatment options for atypical hemolytic uremic syndrome with the complement inhibitor eculizumab.
Semin Thromb Hemost. 2010; 36(6):669-672 (- Case Report)
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2009

Begus-Nahrmann, Y; Lechel, A; Obenauf, AC; Nalapareddy, K; Peit, E; Hoffmann, E; Schlaudraff, F; Liss, B; Schirmacher, P; Kestler, H; Danenberg, E; Barker, N; Clevers, H; Speicher, MR; Rudolph, KL p53 deletion impairs clearance of chromosomal-instable stem cells in aging telomere-dysfunctional mice.
Nat Genet. 2009; 41(10): 1138-1143.
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Frischauf, I; Muik, M; Derler, I; Bergsmann, J; Fahrner, M; Schindl, R; Groschner, K; Romanin, C Molecular determinants of the coupling between STIM1 and Orai channels: differential activation of Orai1-3 channels by a STIM1 coiled-coil mutant.
J Biol Chem. 2009; 284(32): 21696-21706. [OPEN ACCESS]
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Senff, NJ; Zoutman, WH; Vermeer, MH; Assaf, C; Berti, E; Cerroni, L; Espinet, B; Cabrera, RFD; Geerts, ML; Kempf, W; Mitchell, TJ; Paulli, M; Petrella, T; Pimpinelli, N; Santucci, M; Whittaker, SJ; Willemze, R; Tensen, CP Fine-mapping chromosomal loss at 9p21: correlation with prognosis in primary cutaneous diffuse large B-cell lymphoma, leg type.
J INVEST DERMATOL. 2009; 129(5): 1149-1155. [OPEN ACCESS]
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Wiesner, T; Obenauf, AC; Geigl, JB; Vallant, EM; Speicher, MR; Fink-Puches, R; Kerl, H; Cerroni, L 9p21 deletion in primary cutaneous large B-cell lymphoma, leg type, may escape detection by standard FISH assays.
J Invest Dermatol. 2009; 129(1): 238-240. (- Case Report) [OPEN ACCESS]
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2008

Cabanski, M; Steinmüller, M; Marsh, LM; Surdziel, E; Seeger, W; Lohmeyer, J PKR regulates TLR2/TLR4-dependent signaling in murine alveolar macrophages.
Am J Respir Cell Mol Biol. 2008; 38(1): 26-31.
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Dacic, S; Kothmaier, H; Land, S; Shuai, Y; Halbwedl, I; Morbini, P; Murer, B; Comin, C; Galateau-Salle, F; Demirag, F; Zeren, H; Attanoos, R; Gibbs, A; Cagle, P; Popper, H Prognostic significance of p16/cdkn2a loss in pleural malignant mesotheliomas.
Virchows Arch. 2008; 453(6): 627-635.
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Frischauf, I; Schindl, R; Derler, I; Bergsmann, J; Fahrner, M; Romanin, C The STIM/Orai coupling machinery.
Channels (Austin). 2008; 2(4): 261-268. [OPEN ACCESS]
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Göhler, A; Xiong, G; Paulsen, S; Trentmann, G; Maser, E Testosterone-inducible regulator is a kinase that drives steroid sensing and metabolism in Comamonas testosteroni.
J Biol Chem. 2008; 283(25):17380-17390 [OPEN ACCESS]
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Wultsch, T; Painsipp, E; Shahbazian, A; Mitrovic, M; Edelsbrunner, M; Lazdunski, M; Waldmann, R; Holzer, P Deletion of the acid-sensing ion channel ASIC3 prevents gastritis-induced acid hyperresponsiveness of the stomach-brainstem axis.
Pain. 2008; 134(3): 245-253. [OPEN ACCESS]
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2007

Büttner, S; Eisenberg, T; Carmona-Gutierrez, D; Ruli, D; Knauer, H; Ruckenstuhl, C; Sigrist, C; Wissing, S; Kollroser, M; Fröhlich, KU; Sigrist, S; Madeo, F Endonuclease G regulates budding yeast life and death.
Mol Cell. 2007; 25(2):233-246 [OPEN ACCESS]
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Eller, P; Kaser, S; Lhotta, K; Edghill, EL; Ellard, S; Ebenbichler, C; Patsch, JR Renal cysts and diabetes due to a heterozygous HNF-1beta gene deletion.
Nephrol Dial Transplant. 2007; 22(4):1271-1272 (- Case Report) [OPEN ACCESS]
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2006

Bloethner, S; Hemminki, K; Thirumaran, RK; Chen, B; Mueller-Berghaus, J; Ugurel, S; Schadendorf, D; Kumar, R Differences in global gene expression in melanoma cell lines with and without homozygous deletion of the CDKN2A locus genes.
Melanoma Res. 2006; 16(4):297-307
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Jin, JM; Zeng, H; Schmid, KW; Toetsch, M; Uhlig, S; Moroy, T The zinc finger protein Gfi1 acts upstream of TNF to attenuate endotoxin-mediated inflammatory responses in the lung
EUR J IMMUNOL. 2006; 36(2): 421-430.
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Schäfer, E; Weger, M; Birgül, T; Renner, W; Stanger, O; Steinbrugger, I; Schmut, O; Temmel, W; Haas, A Angiotensin-converting enzyme insertion/deletion polymorphism and retinal artery occlusion.
Acta Ophthalmol Scand. 2006; 84(3):305-308 [OPEN ACCESS]
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2005

Mai, G; Bucher, P; Morel, P; Mei, J; Bosco, D; Andres, A; Mathe, Z; Wekerle, T; Berney, T; Bühler, LH Role of CD40-CD154 pathway in the rejection of concordant and discordant xenogeneic islets.
Transplant Proc. 2005; 37(1):460-462
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Wieser, R; Fritz, B; Ullmann, R; Müller, I; Galhuber, M; Storlazzi, CT; Ramaswamy, A; Christiansen, H; Shimizu, N; Rehder, H Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney.
Hum Mutat. 2005; 26(2): 78-83. (- Case Report)
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2004

Köppel, H; Renner, W; Gugl, A; Cichocki, L; Gasser, R; Wascher, TC; Pilger, E The angiotensin-converting-enzyme insertion/deletion polymorphism is not related to venous thrombosis.
Thromb Haemost. 2004; 91(1):76-79
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2003

Petek, E; Jenne, DE; Smolle, J; Binder, B; Lasinger, W; Windpassinger, C; Wagner, K; Kroisel, PM; Kehrer-Sawatzki, H Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations.
J Med Genet. 2003; 40(7):520-525 (- Case Report) [OPEN ACCESS]
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Zhao, W; Frank, KF; Chu, G; Gerst, MJ; Schmidt, AG; Ji, Y; Periasamy, M; Kranias, EG Combined phospholamban ablation and SERCA1a overexpression result in a new hyperdynamic cardiac state.
Cardiovasc Res. 2003; 57(1): 71-81. [OPEN ACCESS]
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2002

Reissinger, A; Ludwig, M; Utsch, B; Prömse, A; Baulmann, J; Weisser, B; Vetter, H; Kramer, HJ; Bokemeyer, D Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.
Kidney Blood Press Res. 2002; 25(6):354-362 (- Case Report)
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2001

Worel, N; Greinix, H; Ackermann, J; Kaufmann, H; Urbauer, E; Höcker, P; Gisslinger, H; Lechner, K; Kalhs, P; Drach, J Deletion of chromosome 13q14 detected by fluorescence in situ hybridization has prognostic impact on survival after high-dose therapy in patients with multiple myeloma.
Ann Hematol. 2001; 80(6):345-348
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2000

Buiting, K; Färber, C; Kroisel, P; Wagner, K; Brueton, L; Robertson, ME; Lich, C; Horsthemke, B Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling.
Clin Genet. 2000; 58(4):284-290
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1999

Eferl, R; Sibilia, M; Hilberg, F; Fuchsbichler, A; Kufferath, I; Guertl, B; Zenz, R; Wagner, EF; Zatloukal, K Functions of c-Jun in liver and heart development.
J Cell Biol. 1999; 145(5):1049-1061 [OPEN ACCESS]
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1994

Jaeger, U; Panzer, S; Bartram, C; Haas, O; Volc-Platzer, B; Graninger, W; Geissler, K; Radaszkiewicz, T; Lechner, K Autoimmune-thrombocytopenia and SLE in a patient with 5q-anomaly and deletion of the c-fms oncogene.
Am J Hematol. 1994; 45(1):79-80 (- Case Report)
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