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

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Publikationen

Suchbegriffe: MEMBRANE PROTEINS - GENETICS , . Treffer: 111

2018

Graffmann, N; Bohndorf, M; Ncube, A; Wruck, W; Kashofer, K; Zatloukal, K; Adjaye, J Establishment and characterization of an iPSC line from a 58 years old high grade patient with nonalcoholic fatty liver disease (70% steatosis) with homozygous wildtype PNPLA3 genotype.
Stem Cell Res. 2018; 31(4):131-134 (- Case Report) [OPEN ACCESS]
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2017

Emmanouilidis, L; Schütz, U; Tripsianes, K; Madl, T; Radke, J; Rucktäschel, R; Wilmanns, M; Schliebs, W; Erdmann, R; Sattler, M Allosteric modulation of peroxisomal membrane protein recognition by farnesylation of the peroxisomal import receptor PEX19.
Nat Commun. 2017; 8(7):14635-14635 [OPEN ACCESS]
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Feichtinger, RG; Brunner-Krainz, M; Alhaddad, B; Wortmann, SB; Kovacs-Nagy, R; Stojakovic, T; Erwa, W; Resch, B; Windischhofer, W; Verheyen, S; Uhrig, S; Windpassinger, C; Locker, F; Makowski, C; Strom, TM; Meitinger, T; Prokisch, H; Sperl, W; Haack, TB; Mayr, JA Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
Oxid Med Cell Longev. 2017; 2017(3-4):7202589-7202589 [OPEN ACCESS]
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Kriegshäuser, G; Enko, D; Zitt, M; Oberwalder, M; Oberkanins, C; Öfner, D; Zeillinger, R; Maximilian Müller, H Comparison of a prototype reverse hybridization assay and MethyLight for detection of SFRP2 promotor methylation in fecal DNA.
Int J Biol Markers. 2017; 32(4):e467-e470-e467-e470 [OPEN ACCESS]
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Rinner, B; Gandolfi, G; Meditz, K; Frisch, MT; Wagner, K; Ciarrocchi, A; Torricelli, F; Koivuniemi, R; Niklander, J; Liegl-Atzwanger, B; Lohberger, B; Heitzer, E; Ghaffari-Tabrizi-Wizsy, N; Zweytick, D; Zalaudek, I MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.
Sci Rep. 2017; 7(1):2098-2098 [OPEN ACCESS]
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Saraggi, D; Salmaso, R; Valentini, E; Munari, G; Vindigni, V; Rugge, M; Fassan, M; Cerroni, L Pigmented trichoblastoma developed in a sebaceous nevus: HRAS mutation as a common molecular driver.
Pathol Res Pract. 2017; 213(7):860-862 (- Case Report)
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Vujic, N; Korbelius, M; Leopold, C; Duta-Mare, M; Rainer, S; Schlager, S; Goeritzer, M; Kolb, D; Eichmann, TO; Diwoky, C; Zimmer, A; Zimmermann, R; Lass, A; Radovic, B; Kratky, D Monoglyceride lipase deficiency affects hepatic cholesterol metabolism and lipid-dependent gut transit in ApoE-/- mice.
Oncotarget. 2017; 8(20):33122-33136 [OPEN ACCESS]
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2016

Argo, CK; Ikura, Y; Lackner, C; Caldwell, SH The fat droplet in hepatocellular ballooning and implications for scoring nonalcoholic steatohepatitis therapeutic response.
Hepatology. 2016; 63(3):1056-1057 [OPEN ACCESS]
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Madreiter-Sokolowski, CT; Gottschalk, B; Parichatikanond, W; Eroglu, E; Klec, C; Waldeck-Weiermair, M; Malli, R; Graier, WF Resveratrol Specifically Kills Cancer Cells by a Devastating Increase in the Ca2+ Coupling Between the Greatly Tethered Endoplasmic Reticulum and Mitochondria.
Cell Physiol Biochem. 2016; 39(4):1404-1420 [OPEN ACCESS]
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Schumann, G; Liu, C; O'Reilly, P; Gao, H; Song, P; Xu, B; Ruggeri, B; Amin, N; Jia, T; Preis, S; Segura Lepe, M; Akira, S; Barbieri, C; Baumeister, S; Cauchi, S; Clarke, TK; Enroth, S; Fischer, K; Hällfors, J; Harris, SE; Hieber, S; Hofer, E; Hottenga, JJ; Johansson, Å; Joshi, PK; Kaartinen, N; Laitinen, J; Lemaitre, R; Loukola, A; Luan, J; Lyytikäinen, LP; Mangino, M; Manichaikul, A; Mbarek, H; Milaneschi, Y; Moayyeri, A; Mukamal, K; Nelson, C; Nettleton, J; Partinen, E; Rawal, R; Robino, A; Rose, L; Sala, C; Satoh, T; Schmidt, R; Schraut, K; Scott, R; Smith, AV; Starr, JM; Teumer, A; Trompet, S; Uitterlinden, AG; Venturini, C; Vergnaud, AC; Verweij, N; Vitart, V; Vuckovic, D; Wedenoja, J; Yengo, L; Yu, B; Zhang, W; Zhao, JH; Boomsma, DI; Chambers, J; Chasman, DI; Daniela, T; de Geus, E; Deary, I; Eriksson, JG; Esko, T; Eulenburg, V; Franco, OH; Froguel, P; Gieger, C; Grabe, HJ; Gudnason, V; Gyllensten, U; Harris, TB; Hartikainen, AL; Heath, AC; Hocking, L; Hofman, A; Huth, C; Jarvelin, MR; Jukema, JW; Kaprio, J; Kooner, JS; Kutalik, Z; Lahti, J; Langenberg, C; Lehtimäki, T; Liu, Y; Madden, PA; Martin, N; Morrison, A; Penninx, B; Pirastu, N; Psaty, B; Raitakari, O; Ridker, P; Rose, R; Rotter, JI; Samani, NJ; Schmidt, H; Spector, TD; Stott, D; Strachan, D; Tzoulaki, I; van der Harst, P; van Duijn, CM; Marques-Vidal, P; Vollenweider, P; Wareham, NJ; Whitfield, JB; Wilson, J; Wolffenbuttel, B; Bakalkin, G; Evangelou, E; Liu, Y; Rice, KM; Desrivières, S; Kliewer, SA; Mangelsdorf, DJ; Müller, CP; Levy, D; Elliott, P KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference.
Proc Natl Acad Sci U S A. 2016; 113(50):14372-14377 [OPEN ACCESS]
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Singh, TP; Zhang, HH; Borek, I; Wolf, P; Hedrick, MN; Singh, SP; Kelsall, BL; Clausen, BE; Farber, JM Monocyte-derived inflammatory Langerhans cells and dermal dendritic cells mediate psoriasis-like inflammation.
Nat Commun. 2016; 7(12):13581-13581 [OPEN ACCESS]
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Wolf, P; Weger, W; Patra, V; Gruber-Wackernagel, A; Byrne, SN Desired response to phototherapy vs photoaggravation in psoriasis: what makes the difference?
Exp Dermatol. 2016; 25(12):937-944 [OPEN ACCESS]
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2015

Benhaim, L; Zhang, W; Wakatsuki, T; Yang, D; Gerger, A; Bohanes, P; Paez, D; Loupakis, F; LaBonte, MJ; Ning, Y; El-Khoueiry, R; Ladner, R; Wilson, P; Zhang, H; Giamas, G; Stebbing, J; Lenz, HJ Genetic variants of kinase suppressors of Ras (KSR1) to predict survival in patients with ERα-positive advanced breast cancer.
Pharmacogenomics J. 2015; 15(3):235-240
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Frischauf, I; Zayats, V; Deix, M; Hochreiter, A; Jardin, I; Muik, M; Lackner, B; Svobodová, B; Pammer, T; Litviňuková, M; Sridhar, AA; Derler, I; Bogeski, I; Romanin, C; Ettrich, RH; Schindl, R A calcium-accumulating region, CAR, in the channel Orai1 enhances Ca(2+) permeation and SOCE-induced gene transcription.
Sci Signal. 2015; 8(408):ra131-ra131 [OPEN ACCESS]
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Hacker, C; Christ, NA; Duchardt-Ferner, E; Korn, S; Göbl, C; Berninger, L; Düsterhus, S; Hellmich, UA; Madl, T; Kötter, P; Entian, KD; Wöhnert, J The Solution Structure of the Lantibiotic Immunity Protein NisI and Its Interactions with Nisin.
J Biol Chem. 2015; 290(48):28869-28886 [OPEN ACCESS]
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Hibar, DP; Stein, JL; Renteria, ME; Arias-Vasquez, A; Desrivières, S; Jahanshad, N; Toro, R; Wittfeld, K; Abramovic, L; Andersson, M; Aribisala, BS; Armstrong, NJ; Bernard, M; Bohlken, MM; Boks, MP; Bralten, J; Brown, AA; Chakravarty, MM; Chen, Q; Ching, CR; Cuellar-Partida, G; den Braber, A; Giddaluru, S; Goldman, AL; Grimm, O; Guadalupe, T; Hass, J; Woldehawariat, G; Holmes, AJ; Hoogman, M; Janowitz, D; Jia, T; Kim, S; Klein, M; Kraemer, B; Lee, PH; Olde Loohuis, LM; Luciano, M; Macare, C; Mather, KA; Mattheisen, M; Milaneschi, Y; Nho, K; Papmeyer, M; Ramasamy, A; Risacher, SL; Roiz-Santiañez, R; Rose, EJ; Salami, A; Sämann, PG; Schmaal, L; Schork, AJ; Shin, J; Strike, LT; Teumer, A; van Donkelaar, MM; van Eijk, KR; Walters, RK; Westlye, LT; Whelan, CD; Winkler, AM; Zwiers, MP; Alhusaini, S; Athanasiu, L; Ehrlich, S; Hakobjan, MM; Hartberg, CB; Haukvik, UK; Heister, AJ; Hoehn, D; Kasperaviciute, D; Liewald, DC; Lopez, LM; Makkinje, RR; Matarin, M; Naber, MA; McKay, DR; Needham, M; Nugent, AC; Pütz, B; Royle, NA; Shen, L; Sprooten, E; Trabzuni, D; van der Marel, SS; van Hulzen, KJ; Walton, E; Wolf, C; Almasy, L; Ames, D; Arepalli, S; Assareh, AA; Bastin, ME; Brodaty, H; Bulayeva, KB; Carless, MA; Cichon, S; Corvin, A; Curran, JE; Czisch, M; de Zubicaray, GI; Dillman, A; Duggirala, R; Dyer, TD; Erk, S; Fedko, IO; Ferrucci, L; Foroud, TM; Fox, PT; Fukunaga, M; Gibbs, JR; Göring, HH; Green, RC; Guelfi, S; Hansell, NK; Hartman, CA; Hegenscheid, K; Heinz, A; Hernandez, DG; Heslenfeld, DJ; Hoekstra, PJ; Holsboer, F; Homuth, G; Hottenga, JJ; Ikeda, M; Jack, CR; Jenkinson, M; Johnson, R; Kanai, R; Keil, M; Kent, JW; Kochunov, P; Kwok, JB; Lawrie, SM; Liu, X; Longo, DL; McMahon, KL; Meisenzahl, E; Melle, I; Mohnke, S; Montgomery, GW; Mostert, JC; Mühleisen, TW; Nalls, MA; Nichols, TE; Nilsson, LG; Nöthen, MM; Ohi, K; Olvera, RL; Perez-Iglesias, R; Pike, GB; Potkin, SG; Reinvang, I; Reppermund, S; Rietschel, M; Romanczuk-Seiferth, N; Rosen, GD; Rujescu, D; Schnell, K; Schofield, PR; Smith, C; Steen, VM; Sussmann, JE; Thalamuthu, A; Toga, AW; Traynor, BJ; Troncoso, J; Turner, JA; Valdés Hernández, MC; van 't Ent, D; van der Brug, M; van der Wee, NJ; van Tol, MJ; Veltman, DJ; Wassink, TH; Westman, E; Zielke, RH; Zonderman, AB; Ashbrook, DG; Hager, R; Lu, L; McMahon, FJ; Morris, DW; Williams, RW; Brunner, HG; Buckner, RL; Buitelaar, JK; Cahn, W; Calhoun, VD; Cavalleri, GL; Crespo-Facorro, B; Dale, AM; Davies, GE; Delanty, N; Depondt, C; Djurovic, S; Drevets, WC; Espeseth, T; Gollub, RL; Ho, BC; Hoffmann, W; Hosten, N; Kahn, RS; Le Hellard, S; Meyer-Lindenberg, A; Müller-Myhsok, B; Nauck, M; Nyberg, L; Pandolfo, M; Penninx, BW; Roffman, JL; Sisodiya, SM; Smoller, JW; van Bokhoven, H; van Haren, NE; Völzke, H; Walter, H; Weiner, MW; Wen, W; White, T; Agartz, I; Andreassen, OA; Blangero, J; Boomsma, DI; Brouwer, RM; Cannon, DM; Cookson, MR; de Geus, EJ; Deary, IJ; Donohoe, G; Fernández, G; Fisher, SE; Francks, C; Glahn, DC; Grabe, HJ; Gruber, O; Hardy, J; Hashimoto, R; Hulshoff Pol, HE; Jönsson, EG; Kloszewska, I; Lovestone, S; Mattay, VS; Mecocci, P; McDonald, C; McIntosh, AM; Ophoff, RA; Paus, T; Pausova, Z; Ryten, M; Sachdev, PS; Saykin, AJ; Simmons, A; Singleton, A; Soininen, H; Wardlaw, JM; Weale, ME; Weinberger, DR; Adams, HH; Launer, LJ; Seiler, S; Schmidt, R; Chauhan, G; Satizabal, CL; Becker, JT; Yanek, L; van der Lee, SJ; Ebling, M; Fischl, B; Longstreth, WT; Greve, D; Schmidt, H; Nyquist, P; Vinke, LN; van Duijn, CM; Xue, L; Mazoyer, B; Bis ... Common genetic variants influence human subcortical brain structures.
Nature. 2015; 520(7546): 224-229. [OPEN ACCESS]
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Jahn, SW; Kashofer, K; Halbwedl, I; Winter, G; El-Shabrawi-Caelen, L; Mentzel, T; Hoefler, G; Liegl-Atzwanger, B Mutational dichotomy in desmoplastic malignant melanoma corroborated by multigene panel analysis.
Mod Pathol. 2015; 28(7):895-903 [OPEN ACCESS]
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Kaczirek, K; Ciuleanu, TE; Vrbanec, D; Marton, E; Messinger, D; Liegl-Atzwanger, B; Wrba, F; Knittelfelder, R; Lindner, E; Zielinski, CC; Streubel, B; Brodowicz, T FOLFOX4 Plus Cetuximab for Patients With Previously Untreated Metastatic Colorectal Cancer According to Tumor RAS and BRAF Mutation Status: Updated Analysis of the CECOG/CORE 1.2.002 Study.
Clin Colorectal Cancer. 2015; 14(2):91-98
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Mandorfer, M; Payer, BA; Schwabl, P; Steiner, S; Ferlitsch, A; Aichelburg, MC; Stättermayer, AF; Ferenci, P; Obermayer-Pietsch, B; Grabmeier-Pfistershammer, K; Trauner, M; Peck-Radosavljevic, M; Reiberger, T Revisiting liver disease progression in HIV/HCV-coinfected patients: the influence of vitamin D, insulin resistance, immune status, IL28B and PNPLA3.
Liver Int. 2015; 35(3):876-885
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Mangge, H; Baumgartner, B; Schnedl, W Letter: PNPLA3, metabolic syndrome and NAFLD status in obese subjects--authors' reply.
Aliment Pharmacol Ther. 2015; 42(5):630-631 [OPEN ACCESS]
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Mangge, H; Baumgartner, BG; Zelzer, S; Prüller, F; Schnedl, WJ; Reininghaus, EZ; Haybaeck, J; Lackner, C; Stauber, R; Aigner, E; Weghuber, D Patatin-like phospholipase 3 (rs738409) gene polymorphism is associated with increased liver enzymes in obese adolescents and metabolic syndrome in all ages.
Aliment Pharmacol Ther. 2015; 42(1):99-105 [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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Silbernagel, G; Baumgartner, I; März, W Mutations in NPC1L1 and coronary heart disease.
N Engl J Med. 2015; 372(9):882-882 [OPEN ACCESS]
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Stättermayer, AF; Traussnigg, S; Dienes, HP; Aigner, E; Stauber, R; Lackner, K; Hofer, H; Stift, J; Wrba, F; Stadlmayr, A; Datz, C; Strasser, M; Maieron, A; Trauner, M; Ferenci, P Hepatic steatosis in Wilson disease--Role of copper and PNPLA3 mutations.
J Hepatol. 2015; 63(1):156-163
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Wolfson, Y; Applegate, CD; Strauss, RW; Han, IC; Scholl, HP CRB1-Related Maculopathy With Cystoid Macular Edema.
JAMA Ophthalmol. 2015; 133(11):1357-1360 (- Case Report)
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Wruck, W; Kashofer, K; Rehman, S; Daskalaki, A; Berg, D; Gralka, E; Jozefczuk, J; Drews, K; Pandey, V; Regenbrecht, C; Wierling, C; Turano, P; Korf, U; Zatloukal, K; Lehrach, H; Westerhoff, HV; Adjaye, J Multi-omic profiles of human non-alcoholic fatty liver disease tissue highlight heterogenic phenotypes.
Sci Data. 2015; 2(S 01):150068-150068 [OPEN ACCESS]
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2014

Deak, AT; Blass, S; Khan, MJ; Groschner, LN; Waldeck-Weiermair, M; Hallström, S; Graier, WF; Malli, R IP3-mediated STIM1 oligomerization requires intact mitochondrial Ca2+ uptake.
J Cell Sci. 2014; 127(Pt 13):2944-2955 [OPEN ACCESS]
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Eisenberg, T; Schroeder, S; Andryushkova, A; Pendl, T; Küttner, V; Bhukel, A; Mariño, G; Pietrocola, F; Harger, A; Zimmermann, A; Moustafa, T; Sprenger, A; Jany, E; Büttner, S; Carmona-Gutierrez, D; Ruckenstuhl, C; Ring, J; Reichelt, W; Schimmel, K; Leeb, T; Moser, C; Schatz, S; Kamolz, LP; Magnes, C; Sinner, F; Sedej, S; Fröhlich, KU; Juhasz, G; Pieber, TR; Dengjel, J; Sigrist, SJ; Kroemer, G; Madeo, F Nucleocytosolic depletion of the energy metabolite acetyl-coenzyme a stimulates autophagy and prolongs lifespan.
Cell Metab. 2014; 19(3):431-444 [OPEN ACCESS]
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Fahrner, M; Muik, M; Schindl, R; Butorac, C; Stathopulos, P; Zheng, L; Jardin, I; Ikura, M; Romanin, C A coiled-coil clamp controls both conformation and clustering of stromal interaction molecule 1 (STIM1).
J Biol Chem. 2014; 289(48): 33231-33244. [OPEN ACCESS]
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Friedmacher, F; Fujiwara, N; Hofmann, AD; Takahashi, H; Alvarez, LA; Gosemann, JH; Puri, P Prenatal retinoic acid increases lipofibroblast expression in hypoplastic rat lungs with experimental congenital diaphragmatic hernia.
J Pediatr Surg. 2014; 49(6):876-881
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Friedmacher, F; Fujiwara, N; Hofmann, AD; Takahashi, H; Gosemann, JH; Puri, P Evidence for decreased lipofibroblast expression in hypoplastic rat lungs with congenital diaphragmatic hernia.
Pediatr Surg Int. 2014; 30(10):1023-1029
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Friedrich, K; Wannhoff, A; Kattner, S; Brune, M; Hov, JR; Weiss, KH; Antoni, C; Dollinger, M; Neumann-Haefelin, C; Seufferlein, T; Schemmer, P; Schirmacher, P; Stremmel, W; Gotthardt, DN PNPLA3 in end-stage liver disease: alcohol consumption, hepatocellular carcinoma development, and transplantation-free survival.
J Gastroenterol Hepatol. 2014; 29(7):1477-1484
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Neuhaus, A; Kooshapur, H; Wolf, J; Meyer, NH; Madl, T; Saidowsky, J; Hambruch, E; Lazam, A; Jung, M; Sattler, M; Schliebs, W; Erdmann, R A novel Pex14 protein-interacting site of human Pex5 is critical for matrix protein import into peroxisomes.
J Biol Chem. 2014; 289(1): 437-448. [OPEN ACCESS]
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Seppälä, I; Kleber, ME; Lyytikäinen, LP; Hernesniemi, JA; Mäkelä, KM; Oksala, N; Laaksonen, R; Pilz, S; Tomaschitz, A; Silbernagel, G; Boehm, BO; Grammer, TB; Koskinen, T; Juonala, M; Hutri-Kähönen, N; Alfthan, G; Viikari, JS; Kähonen, M; Raitakari, OT; März, W; Meinitzer, A; Lehtimäki, T; AtheroRemo Consortium Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
Eur Heart J. 2014; 35(8):524-531 [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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Stickel, F; Buch, S; Zoller, H; Hultcrantz, R; Gallati, S; Österreicher, C; Finkenstedt, A; Stadlmayr, A; Aigner, E; Sahinbegovic, E; Sarrazin, C; Schafmayer, C; Braun, F; Erhart, W; Nothnagel, M; Lerch, MM; Mayerle, J; Völzke, H; Schaller, A; Kratzer, W; Boehm, BO; Sipos, B; D'Amato, M; Torkvist, L; Stal, P; Arlt, A; Franke, A; Becker, T; Krawczak, M; Zwerina, J; Berg, T; Hinrichsen, H; Krones, E; Dejaco, C; Strasser, M; Datz, C; Hampe, J Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.
Hum Mol Genet. 2014; 23(14):3883-3890 [OPEN ACCESS]
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Takahashi, H; Friedmacher, F; Fujiwara, N; Hofmann, A; Takahashi, T; Puri, P Downregulation of p300 gene expression in airway mesenchyme of nitrofen-induced hypoplastic lungs.
Pediatr Surg Int. 2014; 30(4): 431-435.
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2013

Bourgeois, B; Gilquin, B; Tellier-Lebègue, C; Östlund, C; Wu, W; Pérez, J; El Hage, P; Lallemand, F; Worman, HJ; Zinn-Justin, S Inhibition of TGF-β signaling at the nuclear envelope: characterization of interactions between MAN1, Smad2 and Smad3, and PPM1A.
Sci Signal. 2013; 6(280):ra49-ra49 [OPEN ACCESS]
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Derler, I; Schindl, R; Fritsch, R; Heftberger, P; Riedl, MC; Begg, M; House, D; Romanin, C The action of selective CRAC channel blockers is affected by the Orai pore geometry.
Cell Calcium. 2013; 53(2): 139-151. [OPEN ACCESS]
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Eißmann, M; Melzer, IM; Fernández, SB; Michel, G; Hrabě de Angelis, M; Hoefler, G; Finkenwirth, P; Jauch, A; Schoell, B; Grez, M; Schmidt, M; Bartholomae, CC; Newrzela, S; Haetscher, N; Rieger, MA; Zachskorn, C; Mittelbronn, M; Zörnig, M Overexpression of the anti-apoptotic protein AVEN contributes to increased malignancy in hematopoietic neoplasms.
Oncogene. 2013; 32(20):2586-2591
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Finkenstedt, A; Auer, C; Glodny, B; Posch, U; Steitzer, H; Lanzer, G; Pratschke, J; Biebl, M; Steurer, M; Graziadei, I; Vogel, W; Zoller, H Patatin-like phospholipase domain-containing protein 3 rs738409-G in recipients of liver transplants is a risk factor for graft steatosis.
Clin Gastroenterol Hepatol. 2013; 11(12):1667-1672
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Friedrich, K; Rupp, C; Hov, JR; Steinebrunner, N; Weiss, KH; Stiehl, A; Brune, M; Schaefer, PK; Schemmer, P; Sauer, P; Schirmacher, P; Runz, H; Karlsen, TH; Stremmel, W; Gotthardt, DN A frequent PNPLA3 variant is a sex specific disease modifier in PSC patients with bile duct stenosis.
PLoS One. 2013; 8(3):e58734-e58734 [OPEN ACCESS]
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Griewank, KG; Westekemper, H; Murali, R; Mach, M; Schilling, B; Wiesner, T; Schimming, T; Livingstone, E; Sucker, A; Grabellus, F; Metz, C; Süsskind, D; Hillen, U; Speicher, MR; Woodman, SE; Steuhl, KP; Schadendorf, D Conjunctival melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas.
Clin Cancer Res. 2013; 19(12):3143-3152 [OPEN ACCESS]
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Hacker, E; Nagore, E; Cerroni, L; Woods, SL; Hayward, NK; Chapman, B; Montgomery, GW; Soyer, HP; Whiteman, DC; NRAS and BRAF Mutations in Cutaneous Melanoma and the Association with MC1R Genotype: Findings from Spanish and Austrian Populations.
J INVEST DERMATOL. 2013; 133(4): 1027-1033. [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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Lionel, AC; Vaags, AK; Sato, D; Gazzellone, MJ; Mitchell, EB; Chen, HY; Costain, G; Walker, S; Egger, G; Thiruvahindrapuram, B; Merico, D; Prasad, A; Anagnostou, E; Fombonne, E; Zwaigenbaum, L; Roberts, W; Szatmari, P; Fernandez, BA; Georgieva, L; Brzustowicz, LM; Roetzer, K; Kaschnitz, W; Vincent, JB; Windpassinger, C; Marshall, CR; Trifiletti, RR; Kirmani, S; Kirov, G; Petek, E; Hodge, JC; Bassett, AS; Scherer, SW Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Hum Mol Genet. 2013; 22(10):2055-2066 [OPEN ACCESS]
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Walenta, E; Pessentheiner, AR; Pelzmann, HJ; Deutsch, A; Goeritzer, M; Kratky, D; Hackl, H; Oh, da Y; Prokesch, A; Bogner-Strauss, JG α/β-hydrolase domain containing protein 15 (ABHD15)--an adipogenic protein protecting from apoptosis.
PLoS One. 2013; 8(11):e79134-e79134 [OPEN ACCESS]
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2012

Alam, MR; Groschner, LN; Parichatikanond, W; Kuo, L; Bondarenko, AI; Rost, R; Waldeck-Weiermair, M; Malli, R; Graier, WF Mitochondrial Ca2+ uptake 1 (MICU1) and mitochondrial ca2+ uniporter (MCU) contribute to metabolism-secretion coupling in clonal pancreatic β-cells.
J Biol Chem. 2012; 287(41):34445-34454 [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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Fengler, VH; Boritsch, EC; Tutz, S; Seper, A; Ebner, H; Roier, S; Schild, S; Reidl, J Disulfide bond formation and ToxR activity in Vibrio cholerae.
PLoS One. 2012; 7(10):e47756-e47756 [OPEN ACCESS]
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