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

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Publikationen

Suchbegriffe: PROTEIN ISOFORMS - GENETICS , . Treffer: 21

2019

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) [OPEN ACCESS]
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2016

Tuller, F; Holzer, H; Schanda, K; Aboulenein-Djamshidian, F; Höftberger, R; Khalil, M; Seifert-Held, T; Leutmezer, F; Berger, T; Reindl, M Characterization of the binding pattern of human aquaporin-4 autoantibodies in patients with neuromyelitis optica spectrum disorders.
J Neuroinflammation. 2016; 13(1):176-176 Doi: 10.1186/s12974-016-0642-3 [OPEN ACCESS]
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Xue, Y; Schoser, B; Rao, AR; Quadrelli, R; Vaglio, A; Rupp, V; Beichler, C; Nelson, SF; Schapacher-Tilp, G; Windpassinger, C; Wilcox, WR Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
Circ Cardiovasc Genet. 2016; 9(2):130-135 Doi: 10.1161/CIRCGENETICS.115.001193 [OPEN ACCESS]
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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 [OPEN ACCESS]
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2013

Campiglio, M; Di Biase, V; Tuluc, P; Flucher, BE Stable incorporation versus dynamic exchange of β subunits in a native Ca2+ channel complex.
J Cell Sci. 2013; 126(Pt 9):2092-2101 Doi: 10.1242/jcs.jcs124537 [OPEN ACCESS]
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Salzer, E; Santos-Valente, E; Klaver, S; Ban, SA; Emminger, W; Prengemann, NK; Garncarz, W; Müllauer, L; Kain, R; Boztug, H; Heitger, A; Arbeiter, K; Eitelberger, F; Seidel, MG; Holter, W; Pollak, A; Pickl, WF; Förster-Waldl, E; Boztug, K B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ.
Blood. 2013; 121(16):3112-3116 Doi: 10.1182/blood-2012-10-460741 [OPEN ACCESS]
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2012

Binder, JS; Weidemann, F; Schoser, B; Niemann, M; Machann, W; Beer, M; Plank, G; Schmidt, A; Bisping, E; Poparic, I; Lafer, I; Stojakovic, T; Quasthoff, S; Vincent, JB; Rienmueller, R; Speicher, MR; Berghold, A; Pieske, B; Windpassinger, C Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.
Circ Cardiovasc Genet. 2012; 5(5):490-502 Doi: 10.1161/CIRCGENETICS.111.962332 [OPEN ACCESS]
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2011

Karki, P; Li, X; Schrama, D; Fliegel, L B-Raf Associates with and Activates the NHE1 Isoform of the Na+/H+ Exchanger.
J Biol Chem. 2011; 286(15): 13096-13105. Doi: 10.1074/jbc.M110.165134 [OPEN ACCESS]
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Pinent, M; Prokesch, A; Hackl, H; Voshol, PJ; Klatzer, A; Walenta, E; Panzenboeck, U; Kenner, L; Trajanoski, Z; Hoefler, G; Bogner-Strauss, JG Adipose triglyceride lipase and hormone-sensitive lipase are involved in fat loss in JunB-deficient mice.
Endocrinology. 2011; 152(7):2678-2689 Doi: 10.1210/en.2010-1477 [OPEN ACCESS]
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Poparic, I; Schreibmayer, W; Schoser, B; Desoye, G; Gorischek, A; Miedl, H; Hochmeister, S; Binder, J; Quasthoff, S; Wagner, K; Windpassinger, C; Malle, E Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5).
PLOS ONE. 2011; 6(10): e26524-e26524. Doi: 10.1371/journal.pone.0026524 [OPEN ACCESS]
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2010

Olschewski, A Targeting TASK-1 Channels as a Therapeutic Approach
ADVAN EXPERIMENT MED BIOL. 2010; 661: 459-473. Doi: 10.1007/978-1-60761-500-2_30
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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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2009

Schlachter, K; Gruber-Sedlmayr, U; Stogmann, E; Lausecker, M; Hotzy, C; Balzar, J; Schuh, E; Baumgartner, C; Mueller, JC; Illig, T; Wichmann, HE; Lichtner, P; Meitinger, T; Strom, TM; Zimprich, A; Zimprich, F A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures.
NEUROLOGY. 2009; 72(11): 974-978. Doi: 10.1212/01.wnl.0000344401.02915.00
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2006

Hofer, D; Lohberger, B; Steinecker, B; Schmidt, K; Quasthoff, S; Schreibmayer, W A comparative study of the action of tolperisone on seven different voltage dependent sodium channel isoforms.
EUR J PHARMACOL. 2006; 538(1-3): 5-14. Doi: 10.1016/j.ejphar.2006.03.034
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2005

Blaschitz, A; Juch, H; Volz, A; Hutter, H; Daxboeck, C; Desoye, G; Dohr, G The soluble pool of HLA-G produced by human trophoblasts does not include detectable levels of the intron 4-containing HLA-G5 and HLA-G6 isoforms.
Mol Hum Reprod. 2005; 11(10):699-710 Doi: 10.1093/molehr/gah185 [OPEN ACCESS]
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Blaschitz, A; Juch, H; Volz, A; Hutter, H; Dohr, G Soluble HLA-G, the discussion is going on!
MOL HUM REPROD. 2005; 11(10): 723-727. Doi: 10.1093/molehr/gah238 [OPEN ACCESS]
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2004

Prüfert, K; Winkler, C; Paulin-Levasseur, M; Krohne, G The lamina-associated polypeptide 2 (LAP2) genes of zebrafish and chicken: no LAP2alpha isoform is synthesised by non-mammalian vertebrates.
Eur J Cell Biol. 2004; 83(8): 403-411. Doi: 10.1078/0171-9335-00402
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2003

Schoft, VK; Beauvais, AJ; Lang, C; Gajewski, A; Prüfert, K; Winkler, C; Akimenko, MA; Paulin-Levasseur, M; Krohne, G The lamina-associated polypeptide 2 (LAP2) isoforms beta, gamma and omega of zebrafish: developmental expression and behavior during the cell cycle.
J Cell Sci. 2003; 116(Pt 12): 2505-2517. Doi: 10.1242/jcs.00450 [OPEN ACCESS]
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2001

Pieber, D; Allport, VC; Hills, F; Johnson, M; Bennett, PR Interactions between progesterone receptor isoforms in myometrial cells in human labour.
Mol Hum Reprod. 2001; 7(9):875-879 Doi: 10.1093%2Fmolehr%2F7.9.875 [OPEN ACCESS]
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2000

Huber, G; März, W; Martin, JR; Malherbe, P; Richards, JG; Sueoka, N; Ohm, T; Hoffmann, MM Characterization of transgenic mice expressing apolipoprotein E4(C112R) and apolipoprotein E4(L28P; C112R).
Neuroscience. 2000; 101(1):211-218 Doi: 10.1016/S0306-4522(00)00341-9
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1999

Schreibmayer, W Isoform diversity and modulation of sodium channels by protein kinases.
Cell Physiol Biochem. 1999; 9(4-5): 187-200. Doi: 10.1159/000016316 [OPEN ACCESS]
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