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

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Publikationen

Suchbegriffe: INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS - GENETICS , . Treffer: 30

2019

Schopf, FH; Huber, EM; Dodt, C; Lopez, A; Biebl, MM; Rutz, DA; Mühlhofer, M; Richter, G; Madl, T; Sattler, M; Groll, M; Buchner, J The Co-chaperone Cns1 and the Recruiter Protein Hgh1 Link Hsp90 to Translation Elongation via Chaperoning Elongation Factor 2.
MOL CELL. 2019; 74(1): 73-87. [OPEN ACCESS]
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2017

Ammann, S; Lehmberg, K; Zur Stadt, U; Klemann, C; Bode, SFN; Speckmann, C; Janka, G; Wustrau, K; Rakhmanov, M; Fuchs, I; Hennies, HC; Ehl, S; HLH study of the GPOH Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis.
J Clin Immunol. 2017; 37(8):770-780
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2016

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 [OPEN ACCESS]
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2015

Elgohary, N; Pellegrino, R; Neumann, O; Elzawahry, HM; Saber, MM; Zeeneldin, AA; Geffers, R; Ehemann, V; Schemmer, P; Schirmacher, P; Longerich, T Protumorigenic role of Timeless in hepatocellular carcinoma.
Int J Oncol. 2015; 46(2):597-606 [OPEN ACCESS]
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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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Sadowski, CE; Lovric, S; Ashraf, S; Pabst, WL; Gee, HY; Kohl, S; Engelmann, S; Vega-Warner, V; Fang, H; Halbritter, J; Somers, MJ; Tan, W; Shril, S; Fessi, I; Lifton, RP; Bockenhauer, D; El-Desoky, S; Kari, JA; Zenker, M; Kemper, MJ; Mueller, D; Fathy, HM; Soliman, NA; SRNS Study Group; Hildebrandt, F A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
J Am Soc Nephrol. 2015; 26(6): 1279-1289. [OPEN ACCESS]
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Sebio, A; Gerger, A; Matsusaka, S; Yang, D; Zhang, W; Stremitzer, S; Stintzing, S; Sunakawa, Y; Yamauchi, S; Ning, Y; Fujimoto, Y; Ueno, M; Lenz, HJ Genetic variants within obesity-related genes are associated with tumor recurrence in patients with stages II/III colon cancer.
Pharmacogenet Genomics. 2015; 25(1):30-37 [OPEN ACCESS]
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2014

Bertrand, AT; Bönnemann, CG; Bonne, G; FHL1 myopathy consortium 199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands.
Neuromuscul Disord. 2014; 24(5):453-462 [OPEN ACCESS]
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Friedmacher, F; Fujiwara, N; Hofmann, AD; Takahashi, H; Gosemann, JH; Puri, P Expression of Eya1 and Six1 is decreased in distal airways of rats with experimental pulmonary hypoplasia.
J Pediatr Surg. 2014; 49(2): 301-304.
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2013

Dejaco, C; Duftner, C; Al-Massad, J; Wagner, AD; Park, JK; Fessler, J; Aigelsreiter, A; Hafner, F; Vega, S; Sterlacci, W; Grubeck-Loebenstein, B; Tzankov, A; Ness, T; Boiardi, L; Salvarani, C; Schirmer, M NKG2D stimulated T-cell autoreactivity in giant cell arteritis and polymyalgia rheumatica.
Ann Rheum Dis. 2013; 72(11):1852-1859
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Dorronsoro, A; Lang, V; Jakobsson, E; Ferrin, I; Salcedo, JM; Fernández-Rueda, J; Fechter, K; Rodriguez, MS; Trigueros, C Identification of the NF-κB inhibitor A20 as a key regulator for human adipogenesis.
Cell Death Dis. 2013; 4(1):e972-e972 [OPEN ACCESS]
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Huber, MD; Vesely, PW; Datta, K; Gerace, L Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis.
J Cell Biol. 2013; 203(3):427-436 [OPEN ACCESS]
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Pollak, NM; Schweiger, M; Jaeger, D; Kolb, D; Kumari, M; Schreiber, R; Kolleritsch, S; Markolin, P; Grabner, GF; Heier, C; Zierler, KA; Rülicke, T; Zimmermann, R; Lass, A; Zechner, R; Haemmerle, G Cardiac-specific overexpression of perilipin 5 provokes severe cardiac steatosis via the formation of a lipolytic barrier.
J Lipid Res. 2013; 54(4):1092-1102 [OPEN ACCESS]
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Valko, PO; Gavrilov, YV; Yamamoto, M; Reddy, H; Haybaeck, J; Mignot, E; Baumann, CR; Scammell, TE Increase of histaminergic tuberomammillary neurons in narcolepsy.
Ann Neurol. 2013; 74(6):794-804
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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 [OPEN ACCESS]
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Chasman, DI; Fuchsberger, C; Pattaro, C; Teumer, A; Böger, CA; Endlich, K; Olden, M; Chen, MH; Tin, A; Taliun, D; Li, M; Gao, X; Gorski, M; Yang, Q; Hundertmark, C; Foster, MC; O'Seaghdha, CM; Glazer, N; Isaacs, A; Liu, CT; Smith, AV; O'Connell, JR; Struchalin, M; Tanaka, T; Li, G; Johnson, AD; Gierman, HJ; Feitosa, MF; Hwang, SJ; Atkinson, EJ; Lohman, K; Cornelis, MC; Johansson, A; Tönjes, A; Dehghan, A; Lambert, JC; Holliday, EG; Sorice, R; Kutalik, Z; Lehtimäki, T; Esko, T; Deshmukh, H; Ulivi, S; Chu, AY; Murgia, F; Trompet, S; Imboden, M; Coassin, S; Pistis, G; CARDIoGRAM Consortium; ICBP Consortium; CARe Consortium; WTCCC2; Harris, TB; Launer, LJ; Aspelund, T; Eiriksdottir, G; Mitchell, BD; Boerwinkle, E; Schmidt, H; Cavalieri, M; Rao, M; Hu, F; Demirkan, A; Oostra, BA; de Andrade, M; Turner, ST; Ding, J; Andrews, JS; Freedman, BI; Giulianini, F; Koenig, W; Illig, T; Meisinger, C; Gieger, C; Zgaga, L; Zemunik, T; Boban, M; Minelli, C; Wheeler, HE; Igl, W; Zaboli, G; Wild, SH; Wright, AF; Campbell, H; Ellinghaus, D; Nöthlings, U; Jacobs, G; Biffar, R; Ernst, F; Homuth, G; Kroemer, HK; Nauck, M; Stracke, S; Völker, U; Völzke, H; Kovacs, P; Stumvoll, M; Mägi, R; Hofman, A; Uitterlinden, AG; Rivadeneira, F; Aulchenko, YS; Polasek, O; Hastie, N; Vitart, V; Helmer, C; Wang, JJ; Stengel, B; Ruggiero, D; Bergmann, S; Kähönen, M; Viikari, J; Nikopensius, T; Province, M; Ketkar, S; Colhoun, H; Doney, A; Robino, A; Krämer, BK; Portas, L; Ford, I; Buckley, BM; Adam, M; Thun, GA; Paulweber, B; Haun, M; Sala, C; Mitchell, P; Ciullo, M; Kim, SK; Vollenweider, P; Raitakari, O; Metspalu, A; Palmer, C; Gasparini, P; Pirastu, M; Jukema, JW; Probst-Hensch, NM; Kronenberg, F; Toniolo, D; Gudnason, V; Shuldiner, AR; Coresh, J; Schmidt, R; Ferrucci, L; Siscovick, DS; van Duijn, CM; Borecki, IB; Kardia, SL; Liu, Y; Curhan, GC; Rudan, I; Gyllensten, U; Wilson, JF; Franke, A; Pramstaller, PP; Rettig, R; Prokopenko, I; Witteman, J; Hayward, C; Ridker, PM; Parsa, A; Bochud, M; Heid, IM; Kao, WH; Fox, CS; Köttgen, A Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function.
Hum Mol Genet. 2012; 21(24):5329-5343 [OPEN ACCESS]
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Sperl, D; Benesch, M; Urban, C; Lackner, H; Sovinz, P; Speicher, MR; Uhrig, S; Schwarzbraun, T; Schwinger, W; zur Stadt, U; Beutel, K; Janka, G; Scarpatetti, M; Seidel, MG Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.
Klin Padiatr. 2012; 224(6):386-389 (- Case Report)
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2011

Beraza, N; Ofner-Ziegenfuss, L; Ehedego, H; Boekschoten, M; Bischoff, SC; Mueller, M; Trauner, M; Trautwein, C Nor-ursodeoxycholic acid reverses hepatocyte-specific nemo-dependent steatohepatitis.
Gut. 2011; 60(3):387-396
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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. [OPEN ACCESS]
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Sarkozy, A; Windpassinger, C; Hudson, J; Dougan, CF; Lecky, B; Hilton-Jones, D; Eagle, M; Charlton, R; Barresi, R; Lochmüller, H; Bushby, K; Straub, V Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.
Eur J Hum Genet. 2011; 19(10): 1038-1044. [OPEN ACCESS]
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2010

Wiesner, T; Obenauf, AC; Cota, C; Fried, I; Speicher, MR; Cerroni, L Alterations of the cell-cycle inhibitors p27(KIP1) and p16(INK4a) are frequent in blastic plasmacytoid dendritic cell neoplasms.
J Invest Dermatol. 2010; 130(4):1152-1157 [OPEN ACCESS]
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2008

Hochrainer, K; Kroismayr, R; Baranyi, U; Binder, BR; Lipp, J Highly homologous HERC proteins localize to endosomes and exhibit specific interactions with hPLIC and Nm23B.
Cell Mol Life Sci. 2008; 65(13):2105-2117
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Kwapiszewska, G; Wygrecka, M; Marsh, LM; Schmitt, S; Trösser, R; Wilhelm, J; Helmus, K; Eul, B; Zakrzewicz, A; Ghofrani, HA; Schermuly, RT; Bohle, RM; Grimminger, F; Seeger, W; Eickelberg, O; Fink, L; Weissmann, N Fhl-1, a new key protein in pulmonary hypertension.
Circulation. 2008; 118(11): 1183-1194. [OPEN ACCESS]
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Plank, C; Kalb, V; Hinkes, B; Hildebrandt, F; Gefeller, O; Rascher, W; Arbeitsgemeinschaft für Pädiatrische Nephrologie Cyclosporin A is superior to cyclophosphamide in children with steroid-resistant nephrotic syndrome-a randomized controlled multicentre trial by the Arbeitsgemeinschaft für Pädiatrische Nephrologie.
Pediatr Nephrol. 2008; 23(9): 1483-1493. [OPEN ACCESS]
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Windpassinger, C; Schoser, B; Straub, V; Hochmeister, S; Noor, A; Lohberger, B; Farra, N; Petek, E; Schwarzbraun, T; Ofner, L; Löscher, WN; Wagner, K; Lochmüller, H; Vincent, JB; Quasthoff, S An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
Am J Hum Genet. 2008; 82(1): 88-99. [OPEN ACCESS]
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2007

Dhandapany, PS; Sadayappan, S; Vanniarajan, A; Karthikeyan, B; Nagaraj, C; Gowrishankar, K; Selvam, GS; Singh, L; Thangaraj, K Novel mitochondrial DNA mutations implicated in Noonan syndrome.
Int J Cardiol. 2007; 120(2): 284-285. (- Case Report)
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Teppner, I; Becker, S; de Angelis, MH; Gossler, A; Beckers, J Compartmentalised expression of Delta-like 1 in epithelial somites is required for the formation of intervertebral joints.
BMC Dev Biol. 2007; 7: 68-68. [OPEN ACCESS]
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2006

Holler, E; Rogler, G; Brenmoehl, J; Hahn, J; Herfarth, H; Greinix, H; Dickinson, AM; Socié, G; Wolff, D; Fischer, G; Jackson, G; Rocha, V; Steiner, B; Eissner, G; Marienhagen, J; Schoelmerich, J; Andreesen, R Prognostic significance of NOD2/CARD15 variants in HLA-identical sibling hematopoietic stem cell transplantation: effect on long-term outcome is confirmed in 2 independent cohorts and may be modulated by the type of gastrointestinal decontamination.
Blood. 2006; 107(10): 4189-4193. [OPEN ACCESS]
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2004

Kroismayr, R; Baranyi, U; Stehlik, C; Dorfleutner, A; Binder, BR; Lipp, J HERC5, a HECT E3 ubiquitin ligase tightly regulated in LPS activated endothelial cells.
J Cell Sci. 2004; 117(Pt 20):4749-4756 [OPEN ACCESS]
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2003

Wakula, P; Beullens, M; Ceulemans, H; Stalmans, W; Bollen, M Degeneracy and function of the ubiquitous RVXF motif that mediates binding to protein phosphatase-1.
J Biol Chem. 2003; 278(21): 18817-18823. [OPEN ACCESS]
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