Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: PHENOTYPE - , . Treffer: 283
2021
Lagou, V; Mägi, R; Hottenga, JJ; Grallert, H; Perry, JRB; Bouatia-Naji, N; Marullo, L; Rybin, D; Jansen, R; Min, JL; Dimas, AS; Ulrich, A; Zudina, L; Gådin, JR; Jiang, L; Faggian, A; Bonnefond, A; Fadista, J; Stathopoulou, MG; Isaacs, A; Willems, SM; Navarro, P; Tanaka, T; Jackson, AU; Montasser, ME; O'Connell, JR; Bielak, LF; Webster, RJ; Saxena, R; Stafford, JM; Pourcain, BS; Timpson, NJ; Salo, P; Shin, SY; Amin, N; Smith, AV; Li, G; Verweij, N; Goel, A; Ford, I; Johnson, PCD; Johnson, T; Kapur, K; Thorleifsson, G; Strawbridge, RJ; Rasmussen-Torvik, LJ; Esko, T; Mihailov, E; Fall, T; Fraser, RM; Mahajan, A; Kanoni, S; Giedraitis, V; Kleber, ME; Silbernagel, G; Meyer, J; Müller-Nurasyid, M; Ganna, A; Sarin, AP; Yengo, L; Shungin, D; Luan, J; Horikoshi, M; An, P; Sanna, S; Boettcher, Y; Rayner, NW; Nolte, IM; Zemunik, T; Iperen, EV; Kovacs, P; Hastie, ND; Wild, SH; McLachlan, S; Campbell, S; Polasek, O; Carlson, O; Egan, J; Kiess, W; Willemsen, G; Kuusisto, J; Laakso, M; Dimitriou, M; Hicks, AA; Rauramaa, R; Bandinelli, S; Thorand, B; Liu, Y; Miljkovic, I; Lind, L; Doney, A; Perola, M; Hingorani, A; Kivimaki, M; Kumari, M; Bennett, AJ; Groves, CJ; Herder, C; Koistinen, HA; Kinnunen, L; Faire, U; Bakker, SJL; Uusitupa, M; Palmer, CNA; Jukema, JW; Sattar, N; Pouta, A; Snieder, H; Boerwinkle, E; Pankow, JS; Magnusson, PK; Krus, U; Scapoli, C; de Geus, EJCN; Blüher, M; Wolffenbuttel, BHR; Province, MA; Abecasis, GR; Meigs, JB; Hovingh, GK; Lindström, J; Wilson, JF; Wright, AF; Dedoussis, GV; Bornstein, SR; Schwarz, PEH; Tönjes, A; Winkelmann, BR; Boehm, BO; März, W; Metspalu, A; Price, JF; Deloukas, P; Körner, A; Lakka, TA; Keinanen-Kiukaanniemi, SM; Saaristo, TE; Bergman, RN; Tuomilehto, J; Wareham, NJ; Langenberg, C; Männistö, S; Franks, PW; Hayward, C; Vitart, V; Kaprio, J; Visvikis-Siest, S; Balkau, B; Altshuler, D; Rudan, I; Stumvoll, M; Campbell, H; van Duijn, CM; Gieger, C; Illig, T; Ferrucci, L; Pedersen, NL; Pramstaller, PP; Boehnke, M; Frayling, TM; Shuldiner, AR; Peyser, PA; Kardia, SLR; Palmer, LJ; Penninx, BW; Meneton, P; Harris, TB; Navis, G; Harst, PV; Smith, GD; Forouhi, NG; Loos, RJF; Salomaa, V; Soranzo, N; Boomsma, DI; Groop, L; Tuomi, T; Hofman, A; Munroe, PB; Gudnason, V; Siscovick, DS; Watkins, H; Lecoeur, C; Vollenweider, P; Franco-Cereceda, A; Eriksson, P; Jarvelin, MR; Stefansson, K; Hamsten, A; Nicholson, G; Karpe, F; Dermitzakis, ET; Lindgren, CM; McCarthy, MI; Froguel, P; Kaakinen, MA; Lyssenko, V; Watanabe, RM; Ingelsson, E; Florez, JC; Dupuis, J; Barroso, I; Morris, AP; Prokopenko, I; Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC)
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.
Nat Commun. 2021; 12(1): 24-24.
Doi: 10.1038/s41467-020-19366-9
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Tardelli, M; Bruschi, FV; Fuchs, CD; Claudel, T; Auer, N; Kunczer, V; Ronda, OAHO; Verkade, HJ; Stojakovic, T; Scharnagl, H; Trauner, M
Absence of Adiponutrin (PNPLA3) and Monoacylglycerol Lipase Synergistically Increases Weight Gain and Aggravates Steatohepatitis in Mice.
Int J Mol Sci. 2021; 22(4):
Doi: 10.3390/ijms22042126
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2020
Hofer, E; Roshchupkin, GV; Adams, HHH; Knol, MJ; Lin, H; Li, S; Zare, H; Ahmad, S; Armstrong, NJ; Satizabal, CL; Bernard, M; Bis, JC; Gillespie, NA; Luciano, M; Mishra, A; Scholz, M; Teumer, A; Xia, R; Jian, X; Mosley, TH; Saba, Y; Pirpamer, L; Seiler, S; Becker, JT; Carmichael, O; Rotter, JI; Psaty, BM; Lopez, OL; Amin, N; van der Lee, SJ; Yang, Q; Himali, JJ; Maillard, P; Beiser, AS; DeCarli, C; Karama, S; Lewis, L; Harris, M; Bastin, ME; Deary, IJ; Veronica Witte, A; Beyer, F; Loeffler, M; Mather, KA; Schofield, PR; Thalamuthu, A; Kwok, JB; Wright, MJ; Ames, D; Trollor, J; Jiang, J; Brodaty, H; Wen, W; Vernooij, MW; Hofman, A; Uitterlinden, AG; Niessen, WJ; Wittfeld, K; Bülow, R; Völker, U; Pausova, Z; Bruce Pike, G; Maingault, S; Crivello, F; Tzourio, C; Amouyel, P; Mazoyer, B; Neale, MC; Franz, CE; Lyons, MJ; Panizzon, MS; Andreassen, OA; Dale, AM; Logue, M; Grasby, KL; Jahanshad, N; Painter, JN; Colodro-Conde, L; Bralten, J; Hibar, DP; Lind, PA; Pizzagalli, F; Stein, JL; Thompson, PM; Medland, SE; ENIGMA consortium; Sachdev, PS; Kremen, WS; Wardlaw, JM; Villringer, A; van Duijn, CM; Grabe, HJ; Longstreth, WT; Fornage, M; Paus, T; Debette, S; Arfan Ikram, M; Schmidt, H; Schmidt, R; Seshadri, S
Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults.
Nat Commun. 2020; 11(1): 4796-4796.
Doi: 10.1038/s41467-020-18367-y
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Turro, E; Astle, WJ; Megy, K; Gräf, S; Greene, D; Shamardina, O; Allen, HL; Sanchis-Juan, A; Frontini, M; Thys, C; Stephens, J; Mapeta, R; Burren, OS; Downes, K; Haimel, M; Tuna, S; Deevi, SVV; Aitman, TJ; Bennett, DL; Calleja, P; Carss, K; Caulfield, MJ; Chinnery, PF; Dixon, PH; Gale, DP; James, R; Koziell, A; Laffan, MA; Levine, AP; Maher, ER; Markus, HS; Morales, J; Morrell, NW; Mumford, AD; Ormondroyd, E; Rankin, S; Rendon, A; Richardson, S; Roberts, I; Roy, NBA; Saleem, MA; Smith, KGC; Stark, H; Tan, RYY; Themistocleous, AC; Thrasher, AJ; Watkins, H; Webster, AR; Wilkins, MR; Williamson, C; Whitworth, J; Humphray, S; Bentley, DR; NIHR BioResource for the 100,000 Genomes Project; Kingston, N; Walker, N; Bradley, JR; Ashford, S; Penkett, CJ; Freson, K; Stirrups, KE; Raymond, FL; Ouwehand, WH
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature. 2020; 583(7814): 96-102.
Doi: 10.1038/s41586-020-2434-2
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van de Putte, R; van Rooij, IALM; Marcelis, CLM; Guo, M; Brunner, HG; Addor, MC; Cavero-Carbonell, C; Dias, CM; Draper, ES; Etxebarriarteun, L; Gatt, M; Haeusler, M; Khoshnood, B; Klungsoyr, K; Kurinczuk, JJ; Lanzoni, M; Latos-Bielenska, A; Luyt, K; O'Mahony, MT; Miller, N; Mullaney, C; Nelen, V; Neville, AJ; Perthus, I; Pierini, A; Randrianaivo, H; Rankin, J; Rissmann, A; Rouget, F; Schaub, B; Tucker, D; Wellesley, D; Wiesel, A; Zymak-Zakutnia, N; Loane, M; Barisic, I; de Walle, HEK; Roeleveld, N; Bergman, JEH
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.
Pediatr Res. 2020; 87(3):541-549
Doi: 10.1038/s41390-019-0561-y
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Wang, H; Humbatova, A; Liu, Y; Qin, W; Lee, M; Cesarato, N; Kortüm, F; Kumar, S; Romano, MT; Dai, S; Mo, R; Sivalingam, S; Motameny, S; Wu, Y; Wang, X; Niu, X; Geng, S; Bornholdt, D; Kroisel, PM; Tadini, G; Walter, SD; Hauck, F; Girisha, KM; Calza, AM; Bottani, A; Altmüller, J; Buness, A; Yang, S; Sun, X; Ma, L; Kutsche, K; Grzeschik, KH; Betz, RC; Lin, Z
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Am J Hum Genet. 2020; 107(1):34-45
Doi: 10.1016/j.ajhg.2020.05.006
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Zhou, J; Passero, K; Palmiero, NE; Müller-Myhsok, B; Kleber, ME; Maerz, W; Hall, MA
Investigation of gene-gene interactions in cardiac traits and serum fatty acid levels in the LURIC Health Study.
PLoS One. 2020; 15(9):e0238304-e0238304
Doi: 10.1371/journal.pone.0238304
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2019
Arash-Kaps, L; Komlosi, K; Seegräber, M; Diederich, S; Paschke, E; Amraoui, Y; Beblo, S; Dieckmann, A; Smitka, M; Hennermann, JB
The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
J Pediatr. 2019; 215(12):152-157
Doi: 10.1016/j.jpeds.2019.08.016
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Begemann, A; Acuña, MA; Zweier, M; Vincent, M; Steindl, K; Bachmann-Gagescu, R; Hackenberg, A; Abela, L; Plecko, B; Kroell-Seger, J; Baumer, A; Yamakawa, K; Inoue, Y; Asadollahi, R; Sticht, H; Zeilhofer, HU; Rauch, A
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
MOL MED. 2019; 25(1): 6-6.
Doi: 10.1186/s10020-019-0073-6
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Bousquet, J; Ansotegui, IJ; Anto, JM; Arnavielhe, S; Bachert, C; Basagaña, X; Bédard, A; Bedbrook, A; Bonini, M; Bosnic-Anticevich, S; Braido, F; Cardona, V; Czarlewski, W; Cruz, AA; Demoly, P; De Vries, G; Dramburg, S; Mathieu-Dupas, E; Erhola, M; Fokkens, WJ; Fonseca, JA; Haahtela, T; Hellings, PW; Illario, M; Ivancevich, JC; Jormanainen, V; Klimek, L; Kuna, P; Kvedariene, V; Laune, D; Larenas-Linnemann, D; Lourenço, O; Onorato, GL; Matricardi, PM; Melén, E; Mullol, J; Papadopoulos, NG; Pfaar, O; Pham-Thi, N; Sheikh, A; Tan, R; To, T; Tomazic, PV; Toppila-Salmi, S; Tripodi, S; Wallace, D; Valiulis, A; van Eerd, M; Ventura, MT; Yorgancioglu, A; Zuberbier, T
Mobile Technology in Allergic Rhinitis: Evolution in Management or Revolution in Health and Care?
J Allergy Clin Immunol Pract. 2019; 7(8):2511-2523
Doi: 10.1016/j.jaip.2019.07.044
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Kümpers, J; Fromme, M; Schneider, CV; Trautwein, C; Denk, H; Hamesch, K; Strnad, P
Assessment of liver phenotype in adults with severe alpha-1 antitrypsin deficiency (Pi*ZZ genotype).
J Hepatol. 2019; 71(6):1272-1274
Doi: 10.1016/j.jhep.2019.08.011
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Matzhold, EM; Polin, H; Körmöczi, GF; Macher, S; Schönbacher, M; Wagner, T
RHD del28Phe (DMW) encoded by a novel in-frame deletion resulting in reduced D antigen expression.
Transfusion. 2019; 59(9):3033-3034
Doi: 10.1111/trf.15459
(- Case Report)
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2018
Aringer, I; Artinger, K; Kirsch, AH; Schabhüttl, C; Jandl, K; Bärnthaler, T; Mooslechner, AA; Herzog, SA; Uhlig, M; Kirsch, A; Frank, S; Banas, M; Pollheimer, M; Eller, P; Rosenkranz, AR; Heinemann, A; Eller, K
Blockade of prostaglandin E2 receptor 4 ameliorates nephrotoxic serum nephritis.
Am J Physiol Renal Physiol. 2018; 315(6):F1869-F1880
Doi: 10.1152/ajprenal.00113.2018
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Day, F; Karaderi, T; Jones, MR; Meun, C; He, C; Drong, A; Kraft, P; Lin, N; Huang, H; Broer, L; Magi, R; Saxena, R; Laisk, T; Urbanek, M; Hayes, MG; Thorleifsson, G; Fernandez-Tajes, J; Mahajan, A; Mullin, BH; Stuckey, BGA; Spector, TD; Wilson, SG; Goodarzi, MO; Davis, L; Obermayer-Pietsch, B; Uitterlinden, AG; Anttila, V; Neale, BM; Jarvelin, MR; Fauser, B; Kowalska, I; Visser, JA; Andersen, M; Ong, K; Stener-Victorin, E; Ehrmann, D; Legro, RS; Salumets, A; McCarthy, MI; Morin-Papunen, L; Thorsteinsdottir, U; Stefansson, K; 23andMe Research Team; Styrkarsdottir, U; Perry, JRB; Dunaif, A; Laven, J; Franks, S; Lindgren, CM; Welt, CK
Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.
PLoS Genet. 2018; 14(12):e1007813-e1007813
Doi: 10.1371/journal.pgen.1007813
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de Sousa, G; Prinz, N; Becker, M; Dürr, R; Faller, U; Meraner, D; Heise, N; Engelmann, I; Bruckmayer, H; Wiemann, D; Fritsch, M; Stratmann, B; Holl, RW
Diabetes Mellitus and Autoimmune Hepatitis: Demographical and Clinical Description of a Relatively Rare Phenotype.
Horm Metab Res. 2018; 50(7): 568-574.
Doi: 10.1055/a-0631-2468
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Geoffroy, V; Stoetzel, C; Scheidecker, S; Schaefer, E; Perrault, I; Bär, S; Kröll, A; Delbarre, M; Antin, M; Leuvrey, AS; Henry, C; Blanché, H; Decker, E; Kloth, K; Klaus, G; Mache, C; Martin-Coignard, D; McGinn, S; Boland, A; Deleuze, JF; Friant, S; Saunier, S; Rozet, JM; Bergmann, C; Dollfus, H; Muller, J
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
HUM MUTAT. 2018; 39(7): 983-992.
Doi: 10.1002/humu.23539
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Kindler, O; Quehenberger, F; Benesch, M; Seidel, MG
The Iceberg Map of germline mutations in childhood cancer: focus on primary immunodeficiencies.
Curr Opin Pediatr. 2018; 30(6):855-863
Doi: 10.1097/MOP.0000000000000680
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Koentges, C; Pepin, ME; Müsse, C; Pfeil, K; Alvarez, SVV; Hoppe, N; Hoffmann, MM; Odening, KE; Sossalla, S; Zirlik, A; Hein, L; Bode, C; Wende, AR; Bugger, H
Gene expression analysis to identify mechanisms underlying heart failure susceptibility in mice and humans.
Basic Res Cardiol. 2018; 113(1):8-8
Doi: 10.1007/s00395-017-0666-6
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Kovacs, G; Agusti, A; Barberà, JA; Celli, B; Criner, G; Humbert, M; Sin, DD; Voelkel, N; Olschewski, H
Pulmonary Vascular Involvement in Chronic Obstructive Pulmonary Disease. Is There a Pulmonary Vascular Phenotype?
Am J Respir Crit Care Med. 2018; 198(8):1000-1011
Doi: 10.1164/rccm.201801-0095PP
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Kukolj, T; Trivanović, D; Djordjević, IO; Mojsilović, S; Krstić, J; Obradović, H; Janković, S; Santibanez, JF; Jauković, A; Bugarski, D
Lipopolysaccharide can modify differentiation and immunomodulatory potential of periodontal ligament stem cells via ERK1,2 signaling.
J Cell Physiol. 2018; 233(1): 447-462.
Doi: 10.1002/jcp.25904
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Lee, JJ; Wedow, R; Okbay, A; Kong, E; Maghzian, O; Zacher, M; Nguyen-Viet, TA; Bowers, P; Sidorenko, J; Karlsson Linnér, R; Fontana, MA; Kundu, T; Lee, C; Li, H; Li, R; Royer, R; Timshel, PN; Walters, RK; Willoughby, EA; Yengo, L; 23andMe Research Team; COGENT (Cognitive Genomics Consortium); Social Science Genetic Association Consortium; Alver, M; Bao, Y; Clark, DW; Day, FR; Furlotte, NA; Joshi, PK; Kemper, KE; Kleinman, A; Langenberg, C; Mägi, R; Trampush, JW; Verma, SS; Wu, Y; Lam, M; Zhao, JH; Zheng, Z; Boardman, JD; Campbell, H; Freese, J; Harris, KM; Hayward, C; Herd, P; Kumari, M; Lencz, T; Luan, J; Malhotra, AK; Metspalu, A; Milani, L; Ong, KK; Perry, JRB; Porteous, DJ; Ritchie, MD; Smart, MC; Smith, BH; Tung, JY; Wareham, NJ; Wilson, JF; Beauchamp, JP; Conley, DC; Esko, T; Lehrer, SF; Magnusson, PKE; Oskarsson, S; Pers, TH; Robinson, MR; Thom, K; Watson, C; Chabris, CF; Meyer, MN; Laibson, DI; Yang, J; Johannesson, M; Koellinger, PD; Turley, P; Visscher, PM; Benjamin, DJ; Cesarini, D
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
Nat Genet. 2018; 50(8):1112-1121
Doi: 10.1038/s41588-018-0147-3
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Marschik, PB; Lemcke, S; Einspieler, C; Zhang, D; Bölte, S; Townend, GS; Lauritsen, MB
Early development in Rett syndrome - the benefits and difficulties of a birth cohort approach.
Dev Neurorehabil. 2018; 21(1):68-72
Doi: 10.1080/17518423.2017.1323970
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Winkels, H; Ehinger, E; Vassallo, M; Buscher, K; Dinh, HQ; Kobiyama, K; Hamers, AAJ; Cochain, C; Vafadarnejad, E; Saliba, AE; Zernecke, A; Pramod, AB; Ghosh, AK; Anto Michel, N; Hoppe, N; Hilgendorf, I; Zirlik, A; Hedrick, CC; Ley, K; Wolf, D
Atlas of the Immune Cell Repertoire in Mouse Atherosclerosis Defined by Single-Cell RNA-Sequencing and Mass Cytometry.
Circ Res. 2018; 122(12):1675-1688
Doi: 10.1161/CIRCRESAHA.117.312513
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2017
Dobsak, T; Heimel, P; Tangl, S; Schwarze, UY; Schett, G; Gruber, R
Impaired periodontium and temporomandibular joints in tumour necrosis factor-α transgenic mice.
J Clin Periodontol. 2017; 44(12):1226-1235
Doi: 10.1111/jcpe.12799
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El Agha, E; Moiseenko, A; Kheirollahi, V; De Langhe, S; Crnkovic, S; Kwapiszewska, G; Szibor, M; Kosanovic, D; Schwind, F; Schermuly, RT; Henneke, I; MacKenzie, B; Quantius, J; Herold, S; Ntokou, A; Ahlbrecht, K; Braun, T; Morty, RE; Günther, A; Seeger, W; Bellusci, S
Two-Way Conversion between Lipogenic and Myogenic Fibroblastic Phenotypes Marks the Progression and Resolution of Lung Fibrosis.
Cell Stem Cell. 2017; 20(2):261-273
Doi: 10.1016/j.stem.2016.10.004
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Enko, D; Kriegshäuser, G; Halwachs-Baumann, G; Mangge, H; Schnedl, WJ
Serum diamine oxidase activity is associated with lactose malabsorption phenotypic variation.
Clin Biochem. 2017; 50(1-2):50-53
Doi: 10.1016/j.clinbiochem.2016.08.019
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Haberlandt, E; Ensslen, M; Gruber-Sedlmayr, U; Plecko, B; Brunner-Krainz, M; Schimmel, M; Schubert-Bast, S; Neirich, U; Philippi, H; Kurleman, G; Tardieu, M; Wohlrab, G; Borggraefe, I; Rostásy, K
Epileptic phenotypes, electroclinical features and clinical characteristics in 17 children with anti-NMDAR encephalitis.
Eur J Paediatr Neurol. 2017; 21(3):457-464
Doi: 10.1016/j.ejpn.2016.11.016
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Hlavaty, J; Wolfesberger, B; Hauck, M; Obermayer-Pietsch, B; Fuchs-Baumgartinger, A; Miller, I; Walter, I
Ezrin and moesin expression in canine and feline osteosarcoma.
Histol Histopathol. 2017; 32(8):805-816
Doi: 10.14670/HH-11-848
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Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
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Polycystic Ovary Syndrome (PCOS) in Juvenile and Adult Type 1 Diabetes in a German/Austrian Cohort.
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Comparison of cancer cells in 2D vs 3D culture reveals differences in AKT-mTOR-S6K signaling and drug responses.
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Remodeling of repolarization and arrhythmia susceptibility in a myosin-binding protein C knockout mouse model.
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Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.
PLoS Med. 2017; 14(9):e1002383-e1002383
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Widhalm, K; Benke, IM; Fritz, M; Geiger, H; Helk, O; Fritsch, M; Hoermann, G; Kostner, G
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Inflammation, but not recruitment, of adipose tissue macrophages requires signalling through Mac-1 (CD11b/CD18) in diet-induced obesity (DIO).
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Novel genetic loci underlying human intracranial volume identified through genome-wide association.
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