Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: SPLICE VARIANT, . Treffer: 30
2021
Schneeberger, PE; Nampoothiri, S; Holling, T; Yesodharan, D; Alawi, M; Knisely, AS; Müller, T; Plecko, B; Janecke, AR; Kutsche, K
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.
BRAIN. 2021; 144(10): 3036-3049.
Doi: 10.1093/brain/awab206
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2020
Hofmann, L; Kroneis, T; El-Heliebi, A
Using In Situ Padlock Probe Technology to Detect mRNA Splice Variants in Tumor Cells.
Methods Mol Biol. 2020; 2148: 361-378.
Doi: 10.1007/978-1-0716-0623-0_23
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Hofmann, L; Sallinger, K; Haudum, C; Smolle, M; Heitzer, E; Moser, T; Novy, M; Gesson, K; Kroneis, T; Bauernhofer, T; El-Heliebi, A
A Multi-Analyte Approach for Improved Sensitivity of Liquid Biopsies in Prostate Cancer.
Cancers (Basel). 2020; 12(8):
Doi: 10.3390/cancers12082247
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2019
Czepukojc, B; Abuhaliema, A; Barghash, A; Tierling, S; Nass, N; Simon, Y; Korbel, C; Cadenas, C; van Hul, N; Sachinidis, A; Hengstler, JG; Helms, V; Laschke, MW; Walter, J; Haybaeck, J; Leclercq, I; Kiemer, AK; Kessler, SM
IGF2 mRNA Binding Protein 2 Transgenic Mice Are More Prone to Develop a Ductular Reaction and to Progress Toward Cirrhosis
FRONT MED-LAUSANNE. 2019; 6: 179
Doi: 10.3389/fmed.2019.00179
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Rath, M; Spiegler, S; Strom, TM; Trenkler, J; Kroisel, PM; Felbor, U
Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.
Am J Med Genet A. 2019; 179(2):295-299
Doi: 10.1002/ajmg.a.60700
(- Case Report)
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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
Doi: 10.1373/clinchem.2017.281295
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Heitzer, E; Speicher, MR
Digital Circulating Tumor Cell Analyses for Prostate Cancer Precision Oncology.
Cancer Discov. 2018; 8(3): 269-271.
Doi: 10.1158/2159-8290.CD-18-0075
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2016
Kirschmer, N; Bandleon, S; von Ehrlich-Treuenstätt, V; Hartmann, S; Schaaf, A; Lamprecht, AK; Miranda-Laferte, E; Langsenlehner, T; Ritter, O; Eder, P
TRPC4α and TRPC4β Similarly Affect Neonatal Cardiomyocyte Survival during Chronic GPCR Stimulation.
PLoS One. 2016; 11(12):e0168446-e0168446
Doi: 10.1371/journal.pone.0168446
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Rezania, S; Kammerer, S; Li, C; Steinecker-Frohnwieser, B; Gorischek, A; DeVaney, TT; Verheyen, S; Passegger, CA; Tabrizi-Wizsy, NG; Hackl, H; Platzer, D; Zarnani, AH; Malle, E; Jahn, SW; Bauernhofer, T; Schreibmayer, W
Overexpression of KCNJ3 gene splice variants affects vital parameters of the malignant breast cancer cell line MCF-7 in an opposing manner.
BMC Cancer. 2016; 16(1):628-628
Doi: 10.1186/s12885-016-2664-8
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2015
Bagdonaite, I; Wandall, HH; Litvinov, IV; Nastasi, C; Becker, JC; Dabelsteen, S; Geisler, C; Bonefeld, CM; Zhang, Q; Wasik, MA; Zhou, Y; Sasseville, D; Ødum, N; Woetmann, A
Ectopic expression of a novel CD22 splice-variant regulates survival and proliferation in malignant T cells from cutaneous T cell lymphoma (CTCL) patients.
Oncotarget. 2015; 6(16):14374-14384
Doi: 10.18632/oncotarget.3720
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Kessler, SM; Laggai, S; Barghash, A; Schultheiss, CS; Lederer, E; Artl, M; Helms, V; Haybaeck, J; Kiemer, AK
IMP2/p62 induces genomic instability and an aggressive hepatocellular carcinoma phenotype.
Cell Death Dis. 2015; 6(1):e1894-e1894
Doi: 10.1038/cddis.2015.241
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Reinthaler, EM; Dejanovic, B; Lal, D; Semtner, M; Merkler, Y; Reinhold, A; Pittrich, DA; Hotzy, C; Feucht, M; Steinböck, H; Gruber-Sedlmayr, U; Ronen, GM; Neophytou, B; Geldner, J; Haberlandt, E; Muhle, H; Ikram, MA; van Duijn, CM; Uitterlinden, AG; Hofman, A; Altmüller, J; Kawalia, A; Toliat, MR; EuroEPINOMICS Consortium; Nürnberg, P; Lerche, H; Nothnagel, M; Thiele, H; Sander, T; Meier, JC; Schwarz, G; Neubauer, BA; Zimprich, F
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Ann Neurol. 2015; 77(6):972-986
Doi: 10.1002/ana.24395
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2014
Etemad, S; Obermair, GJ; Bindreither, D; Benedetti, A; Stanika, R; Di Biase, V; Burtscher, V; Koschak, A; Kofler, R; Geley, S; Wille, A; Lusser, A; Flockerzi, V; Flucher, BE
Differential neuronal targeting of a new and two known calcium channel β4 subunit splice variants correlates with their regulation of gene expression.
J Neurosci. 2014; 34(4):1446-1461
Doi: 10.1523/JNEUROSCI.3935-13.2014
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2010
Wagner, V; Stadelmeyer, E; Riederer, M; Regitnig, P; Gorischek, A; Devaney, T; Schmidt, K; Tritthart, HA; Hirschberg, K; Bauernhofer, T; Schreibmayer, W
Cloning and characterisation of GIRK1 variants resulting from alternative RNA editing of the KCNJ3 gene transcript in a human breast cancer cell line.
J Cell Biochem. 2010; 110(3):598-608
Doi: 10.1002/jcb.22564
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2008
Hohla, F; Moder, A; Mayrhauser, U; Hauser-Kronberger, C; Schally, AV; Varga, JL; Zarandi, M; Buchholz, S; Huber, R; Aigner, E; Ritter, M; Datz, C
Differential expression of GHRH receptor and its splice variant 1 in human normal and malignant mucosa of the oesophagus and colon.
Int J Oncol. 2008; 33(1):137-143
Doi: 10.3892/ijo.33.1.137
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Stojanov, S; Dejaco, C; Lohse, P; Huss, K; Duftner, C; Belohradsky, BH; Herold, M; Schirmer, M
Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment.
Ann Rheum Dis. 2008; 67(9): 1292-1298.
Doi: 10.1136/ard.2007.079376
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2007
Steinecker, B; Rosker, C; Schreibmayer, W
The GIRK1 brain variant GIRK1d and its functional impact on heteromultimeric GIRK channels.
J Recept Signal Transduct Res. 2007; 27(5-6): 369-382.
Doi: 10.1080/10799890701713073
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2006
Altenberger, T; Bilban, M; Auer, M; Knosp, E; Wolfsberger, S; Gartner, W; Mineva, I; Zielinski, C; Wagner, L; Luger, A
Identification of DLK1 variants in pituitary- and neuroendocrine tumors.
Biochem Biophys Res Commun. 2006; 340(3):995-1005
Doi: 10.1016/j.bbrc.2005.12.094
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Santic, R; Fenninger, K; Graf, K; Schneider, R; Hauser-Kronberger, C; Schilling, FH; Kogner, P; Ratschek, M; Jones, N; Sperl, W; Kofler, B
Gangliocytes in neuroblastic tumors express alarin, a novel peptide derived by differential splicing of the galanin-like peptide gene.
J Mol Neurosci. 2006; 29(2):145-152
Doi: 10.1385/JMN:29:2:145
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Strehl, S; König, M; Meyer, C; Schneider, B; Harbott, J; Jäger, U; von Bergh, AR; Loncarevic, IF; Jarosova, M; Schmidt, HH; Moore, SD; Marschalek, R; Haas, OA
Molecular dissection of t(11;17) in acute myeloid leukemia reveals a variety of gene fusions with heterogeneous fusion transcripts and multiple splice variants.
Genes Chromosomes Cancer. 2006; 45(11):1041-1049
Doi: 10.1002/gcc.20372
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2004
Krippl, P; Langsenlehner, U; Renner, W; Yazdani-Biuki, B; Wolf, G; Wascher, TC; Paulweber, B; Samonigg, H
The 825C>T polymorphism of the G-protein beta-3 subunit gene (GNB3) and breast cancer.
CANCER LETT. 2004; 206(1): 59-62.
Doi: 10.1016/j.canlet.2003.11.030
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2003
Vinatzer, U; Mannhalter, C; Mitterbauer, M; Gruener, H; Greinix, H; Schmidt, HH; Fonatsch, C; Wieser, R
Quantitative comparison of the expression of EVI1 and its presumptive antagonist, MDS1/EVI1, in patients with myeloid leukemia.
Genes Chromosomes Cancer. 2003; 36(1):80-89
Doi: 10.1002/gcc.10144
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Wadsack, C; Hirschmugl, B; Hammer, A; Levak-Frank, S; Kozarsky, KF; Sattler, W; Malle, E
Scavenger receptor class B, type I on non-malignant and malignant human epithelial cells mediates cholesteryl ester-uptake from high density lipoproteins.
Int J Biochem Cell Biol. 2003; 35(4):441-454
Doi: 10.1016/S1357-2725(02)00272-8
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Wadsack, C; Hrzenjak, A; Hammer, A; Hirschmugl, B; Levak-Frank, S; Desoye, G; Sattler, W; Malle, E
Trophoblast-like human choriocarcinoma cells serve as a suitable in vitro model for selective cholesteryl ester uptake from high density lipoproteins.
Eur J Biochem. 2003; 270(3):451-462
Doi: 10.1046%2Fj.1432-1033.2003.03394.x
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2002
Gaus, G; Demir-Weusten, AY; Schmitz, U; Bose, P; Kaufmann, P; Huppertz, B; Frank, HG
Extracellular pH modulates the secretion of fibronectin isoforms by human trophoblast.
ACTA HISTOCHEM 2002 104: 51-63.
Doi: 10.1078/0065-1281-00631
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2000
Gollmer, JC; Ladoux, A; Gioanni, J; Paquis, P; Dubreuil, A; Chatel, M; Frelin, C
Expression of vascular endothelial growth factor-b in human astrocytoma.
Neuro Oncol. 2000; 2(2):80-86
Doi: 10.1093/neuonc/2.2.80
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1998
Beham-Schmid, C; Heider, KH; Hoefler, G; Zatloukal, K
Expression of CD44 splice variant v10 in Hodgkin's disease is associated with aggressive behaviour and high risk of relapse.
J Pathol. 1998; 186(4):383-389
Doi: 10.1002/(SICI)1096-9896(199812)186:4<383::AID-PATH202>3.0.CO;2-A
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de Lanerolle, NC; Eid, T; von Campe, G; Kovacs, I; Spencer, DD; Brines, M
Glutamate receptor subunits GluR1 and GluR2/3 distribution shows reorganization in the human epileptogenic hippocampus.
Eur J Neurosci. 1998; 10(5): 1687-1703.
Doi: 10.1046/j.1460-9568.1998.00171.x
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Schaider, H; Soyer, HP; Heider, KH; Hofmann-Wellenhof, R; Zatloukal, K; Smolle, J; Kerl, H
CD44 and variants in melanocytic skin neoplasms.
J Cutan Pathol. 1998; 25(4):199-203
Doi: 10.1111/j.1600-0560.1998.tb01719.x
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1997
Kammerer, S; Arnold, N; Gutensohn, W; Mewes, HW; Kunau, WH; Höfler, G; Roscher, AA; Braun, A
Genomic organization and molecular characterization of a gene encoding HsPXF, a human peroxisomal farnesylated protein.
Genomics. 1997; 45(1):200-210
Doi: 10.1006/geno.1997.4914
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