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

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Publikationen

Suchbegriffe: AMINO ACID SUBSTITUTION - , . Treffer: 47

2017

Aung, T; Ozaki, M; Lee, MC; Schlötzer-Schrehardt, U; Thorleifsson, G; Mizoguchi, T; Igo, RP; Haripriya, A; Williams, SE; Astakhov, YS; Orr, AC; Burdon, KP; Nakano, S; Mori, K; Abu-Amero, K; Hauser, M; Li, Z; Prakadeeswari, G; Bailey, JNC; Cherecheanu, AP; Kang, JH; Nelson, S; Hayashi, K; Manabe, SI; Kazama, S; Zarnowski, T; Inoue, K; Irkec, M; Coca-Prados, M; Sugiyama, K; Järvelä, I; Schlottmann, P; Lerner, SF; Lamari, H; Nilgün, Y; Bikbov, M; Park, KH; Cha, SC; Yamashiro, K; Zenteno, JC; Jonas, JB; Kumar, RS; Perera, SA; Chan, ASY; Kobakhidze, N; George, R; Vijaya, L; Do, T; Edward, DP; de Juan Marcos, L; Pakravan, M; Moghimi, S; Ideta, R; Bach-Holm, D; Kappelgaard, P; Wirostko, B; Thomas, S; Gaston, D; Bedard, K; Greer, WL; Yang, Z; Chen, X; Huang, L; Sang, J; Jia, H; Jia, L; Qiao, C; Zhang, H; Liu, X; Zhao, B; Wang, YX; Xu, L; Leruez, S; Reynier, P; Chichua, G; Tabagari, S; Uebe, S; Zenkel, M; Berner, D; Mossböck, G; Weisschuh, N; Hoja, U; Welge-Luessen, UC; Mardin, C; Founti, P; Chatzikyriakidou, A; Pappas, T; Anastasopoulos, E; Lambropoulos, A; Ghosh, A; Shetty, R; Porporato, N; Saravanan, V; Venkatesh, R; Shivkumar, C; Kalpana, N; Sarangapani, S; Kanavi, MR; Beni, AN; Yazdani, S; Lashay, A; Naderifar, H; Khatibi, N; Fea, A; Lavia, C; Dallorto, L; Rolle, T; Frezzotti, P; Paoli, D; Salvi, E; Manunta, P; Mori, Y; Miyata, K; Higashide, T; Chihara, E; Ishiko, S; Yoshida, A; Yanagi, M; Kiuchi, Y; Ohashi, T; Sakurai, T; Sugimoto, T; Chuman, H; Aihara, M; Inatani, M; Miyake, M; Gotoh, N; Matsuda, F; Yoshimura, N; Ikeda, Y; Ueno, M; Sotozono, C; Jeoung, JW; Sagong, M; Park, KH; Ahn, J; Cruz-Aguilar, M; Ezzouhairi, SM; Rafei, A; Chong, YF; Ng, XY; Goh, SR; Chen, Y; Yong, VHK; Khan, MI; Olawoye, OO; Ashaye, AO; Ugbede, I; Onakoya, A; Kizor-Akaraiwe, N; Teekhasaenee, C; Suwan, Y; Supakontanasan, W; Okeke, S; Uche, NJ; Asimadu, I; Ayub, H; Akhtar, F; Kosior-Jarecka, E; Lukasik, U; Lischinsky, I; Castro, V; Grossmann, RP; Sunaric Megevand, G; Roy, S; Dervan, E; Silke, E; Rao, A; Sahay, P; Fornero, P; Cuello, O; Sivori, D; Zompa, T; Mills, RA; Souzeau, E; Mitchell, P; Wang, JJ; Hewitt, AW; Coote, M; Crowston, JG; Astakhov, SY; Akopov, EL; Emelyanov, A; Vysochinskaya, V; Kazakbaeva, G; Fayzrakhmanov, R; Al-Obeidan, SA; Owaidhah, O; Aljasim, LA; Chowbay, B; Foo, JN; Soh, RQ; Sim, KS; Xie, Z; Cheong, AWO; Mok, SQ; Soo, HM; Chen, XY; Peh, SQ; Heng, KK; Husain, R; Ho, SL; Hillmer, AM; Cheng, CY; Escudero-Domínguez, FA; González-Sarmiento, R; Martinon-Torres, F; Salas, A; Pathanapitoon, K; Hansapinyo, L; Wanichwecharugruang, B; Kitnarong, N; Sakuntabhai, A; Nguyn, HX; Nguyn, GTT; Nguyn, TV; Zenz, W; Binder, A; Klobassa, DS; Hibberd, ML; Davila, S; Herms, S; Nöthen, MM; Moebus, S; Rautenbach, RM; Ziskind, A; Carmichael, TR; Ramsay, M; Álvarez, L; García, M; González-Iglesias, H; Rodríguez-Calvo, PP; Fernández-Vega Cueto, L; Oguz, Ç; Tamcelik, N; Atalay, E; Batu, B; Aktas, D; Kasım, B; Wilson, MR; Coleman, AL; Liu, Y; Challa, P; Herndon, L; Kuchtey, RW; Kuchtey, J; Curtin, K; Chaya, CJ; Crandall, A; Zangwill, LM; Wong, TY; Nakano, M; Kinoshita, S; den Hollander, AI; Vesti, E; Fingert, JH; Lee, RK; Sit, AJ; Shingleton, BJ; Wang, N; Cusi, D; Qamar, R; Kraft, P; Pericak-Vance, MA; Raychaudhuri, S; Heegaard, S; Kivelä, T; Reis, A; Kruse, FE; Weinreb, RN; Pasquale, LR; Haines, JL; Thorsteinsdottir, U; Jonasson, F; Allingham, RR; Milea, D; Ritch, R; Kubota, T; Tashiro, K; Vithana, EN; Micheal, S; Topouzis, F; Craig, JE; Dubina, M; Sundaresan, P; Stefansson, K Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
Nat Genet. 2017; 49(7):993-1004 Doi: 10.1038/ng.3875 [OPEN ACCESS]
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Oliva, C; Sánchez-Murcia, PA; Rico, E; Bravo, A; Menéndez, M; Gago, F; Jiménez-Ruiz, A Structure-based domain assignment in Leishmania infantum EndoG: characterization of a pH-dependent regulatory switch and a C-terminal extension that largely dictates DNA substrate preferences.
Nucleic Acids Res. 2017; 45(15):9030-9045 Doi: 10.1093/nar/gkx629 [OPEN ACCESS]
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2016

Lal, D; Reinthaler, EM; Dejanovic, B; May, P; Thiele, H; Lehesjoki, AE; Schwarz, G; Riesch, E; Ikram, MA; van Duijn, CM; Uitterlinden, AG; Hofman, A; Steinböck, H; Gruber-Sedlmayr, U; Neophytou, B; Zara, F; Hahn, A; Genetic Commission of the Italian League against Epilepsy; EuroEPINOMICS CoGIE Consortium; Gormley, P; Becker, F; Weber, YG; Cilio, MR; Kunz, WS; Krause, R; Zimprich, F; Lemke, JR; Nürnberg, P; Sander, T; Lerche, H; Neubauer, BA Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
PLoS One. 2016; 11(3):e0150426-e0150426 Doi: 10.1371/journal.pone.0150426 [OPEN ACCESS]
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Opelt, M; Eroglu, E; Waldeck-Weiermair, M; Russwurm, M; Koesling, D; Malli, R; Graier, WF; Fassett, JT; Schrammel, A; Mayer, B Formation of Nitric Oxide by Aldehyde Dehydrogenase-2 Is Necessary and Sufficient for Vascular Bioactivation of Nitroglycerin.
J Biol Chem. 2016; 291(46):24076-24084 Doi: 10.1074/jbc.M116.752071 [OPEN ACCESS]
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2015

Alesutan, I; Voelkl, J; Stöckigt, F; Mia, S; Feger, M; Primessnig, U; Sopjani, M; Munoz, C; Borst, O; Gawaz, M; Pieske, B; Metzler, B; Heinzel, F; Schrickel, JW; Lang, F AMP-activated protein kinase α1 regulates cardiac gap junction protein connexin 43 and electrical remodeling following pressure overload.
Cell Physiol Biochem. 2015; 35(1):406-418 Doi: 10.1159/000369706 [OPEN ACCESS]
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Chromikova, V; Mader, A; Hofbauer, S; Göbl, C; Madl, T; Gach, JS; Bauernfried, S; Furtmüller, PG; Forthal, DN; Mach, L; Obinger, C; Kunert, R Introduction of germline residues improves the stability of anti-HIV mAb 2G12-IgM.
Biochim Biophys Acta. 2015; 1854(10 Pt A):1536-1544 Doi: 10.1016/j.bbapap.2015.02.018 [OPEN ACCESS]
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Gerlza, T; Winkler, S; Atlic, A; Zankl, C; Konya, V; Kitic, N; Strutzmann, E; Knebl, K; Adage, T; Heinemann, A; Weis, R; Kungl, AJ Designing a mutant CCL2-HSA chimera with high glycosaminoglycan-binding affinity and selectivity.
Protein Eng Des Sel. 2015; 28(8):231-240 Doi: 10.1093/protein/gzv025 [OPEN ACCESS]
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Kassner, U; Salewsky, B; Wühle-Demuth, M; Szijarto, IA; Grenkowitz, T; Binner, P; März, W; Steinhagen-Thiessen, E; Demuth, I Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants.
Eur J Hum Genet. 2015; 23(9):1259-1261 Doi: 10.1038/ejhg.2014.295 (- Case Report) [OPEN ACCESS]
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Matzhold, EM; Wagner, A; Drexler, C; Wagner, T Novel ABO gene variants caused by missense mutations in Exon 7 leading to discrepant ABO blood typing results.
Transfusion. 2015; 55(6 Pt 2):1589-1590 Doi: 10.1111/trf.13025 (- Case Report)
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Perz, V; Zumstein, MT; Sander, M; Zitzenbacher, S; Ribitsch, D; Guebitz, GM Biomimetic Approach to Enhance Enzymatic Hydrolysis of the Synthetic Polyester Poly(1,4-butylene adipate): Fusing Binding Modules to Esterases.
Biomacromolecules. 2015; 16(12): 3889-3896. Doi: 10.1021/acs.biomac.5b01219
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Zafred, D; Steiner, B; Teufelberger, AR; Hromic, A; Karplus, PA; Schofield, CJ; Wallner, S; Macheroux, P Rationally engineered flavin-dependent oxidase reveals steric control of dioxygen reduction.
FEBS J. 2015; 282(16): 3060-3074. Doi: 10.1111/febs.13212
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2014

Polin, H; Gaszner, W; Suessner, S; Danzer, M; Gabriel, C Identification of a novel Kmod -1 allele encoded by 977C>T (Pro326Leu).
Transfusion. 2014; 54(8): 2130-2131. Doi: 10.1111/trf.12559
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2013

Gordon, CT; Petit, F; Kroisel, PM; Jakobsen, L; Zechi-Ceide, RM; Oufadem, M; Bole-Feysot, C; Pruvost, S; Masson, C; Tores, F; Hieu, T; Nitschké, P; Lindholm, P; Pellerin, P; Guion-Almeida, ML; Kokitsu-Nakata, NM; Vendramini-Pittoli, S; Munnich, A; Lyonnet, S; Holder-Espinasse, M; Amiel, J Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
Am J Hum Genet. 2013; 93(6):1118-1125 Doi: 10.1016/j.ajhg.2013.10.023 (- Case Report) [OPEN ACCESS]
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Ho, JE; Chen, WY; Chen, MH; Larson, MG; McCabe, EL; Cheng, S; Ghorbani, A; Coglianese, E; Emilsson, V; Johnson, AD; Walter, S; Franceschini, N; O'Donnell, CJ; CARDIoGRAM Consortium; CHARGE Inflammation Working Group; Dehghan, A; Lu, C; Levy, D; Newton-Cheh, C; CHARGE Heart Failure Working Group; Lin, H; Felix, JF; Schreiter, ER; Vasan, RS; Januzzi, JL; Lee, RT; Wang, TJ; Assimes, TL; Deloukas, P; Erdmann, J; Holm, H; Kathiresan, S; König, IR; McPherson, R; Reilly, MP; Roberts, R; Samani, NJ; Schunkert, H; Stewart, AF Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.
J Clin Invest. 2013; 123(10): 4208-4218. Doi: 10.1172/JCI67119 [OPEN ACCESS]
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Lemke, JR; Lal, D; Reinthaler, EM; Steiner, I; Nothnagel, M; Alber, M; Geider, K; Laube, B; Schwake, M; Finsterwalder, K; Franke, A; Schilhabel, M; Jähn, JA; Muhle, H; Boor, R; Van Paesschen, W; Caraballo, R; Fejerman, N; Weckhuysen, S; De Jonghe, P; Larsen, J; Møller, RS; Hjalgrim, H; Addis, L; Tang, S; Hughes, E; Pal, DK; Veri, K; Vaher, U; Talvik, T; Dimova, P; Guerrero López, R; Serratosa, JM; Linnankivi, T; Lehesjoki, AE; Ruf, S; Wolff, M; Buerki, S; Wohlrab, G; Kroell, J; Datta, AN; Fiedler, B; Kurlemann, G; Kluger, G; Hahn, A; Haberlandt, DE; Kutzer, C; Sperner, J; Becker, F; Weber, YG; Feucht, M; Steinböck, H; Neophythou, B; Ronen, GM; Gruber-Sedlmayr, U; Geldner, J; Harvey, RJ; Hoffmann, P; Herms, S; Altmüller, J; Toliat, MR; Thiele, H; Nürnberg, P; Wilhelm, C; Stephani, U; Helbig, I; Lerche, H; Zimprich, F; Neubauer, BA; Biskup, S; von Spiczak, S Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Nat Genet. 2013; 45(9):1067-1072 Doi: 10.1038/ng.2728
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Opatz, S; Polzer, H; Herold, T; Konstandin, NP; Ksienzyk, B; Zellmeier, E; Vosberg, S; Graf, A; Krebs, S; Blum, H; Hopfner, KP; Kakadia, PM; Schneider, S; Dufour, A; Braess, J; Sauerland, MC; Berdel, WE; Büchner, T; Woermann, BJ; Hiddemann, W; Spiekermann, K; Bohlander, SK; Greif, PA Exome sequencing identifies recurring FLT3 N676K mutations in core-binding factor leukemia.
Blood. 2013; 122(10): 1761-1769. Doi: 10.1182/blood-2013-01-476473
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Prüller, F; Raggam, RB; Mangge, H; Truschnig-Wilders, M; Matzhold, EM; Weiss, EC; Hasiba, B; Summers, KL; Renner, W; Siegert, G; Kostka, H A novel factor V mutation causes a normal activated protein C ratio despite the presence of a heterozygous F5 R506Q (factor V Leiden) mutation.
Br J Haematol. 2013; 163(3):414-417 Doi: 10.1111/bjh.12506 [OPEN ACCESS]
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Putker, M; Madl, T; Vos, HR; de Ruiter, H; Visscher, M; van den Berg, MC; Kaplan, M; Korswagen, HC; Boelens, R; Vermeulen, M; Burgering, BM; Dansen, TB Redox-dependent control of FOXO/DAF-16 by transportin-1.
Mol Cell. 2013; 49(4): 730-742. Doi: 10.1016/j.molcel.2012.12.014 [OPEN ACCESS]
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2012

Haack, TB; Haberberger, B; Frisch, EM; Wieland, T; Iuso, A; Gorza, M; Strecker, V; Graf, E; Mayr, JA; Herberg, U; Hennermann, JB; Klopstock, T; Kuhn, KA; Ahting, U; Sperl, W; Wilichowski, E; Hoffmann, GF; Tesarova, M; Hansikova, H; Zeman, J; Plecko, B; Zeviani, M; Wittig, I; Strom, TM; Schuelke, M; Freisinger, P; Meitinger, T; Prokisch, H Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
J Med Genet. 2012; 49(4): 277-283. Doi: 10.1136/jmedgenet-2012-100846
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Khafaga, M; Bossuyt, J; Mamikonian, L; Li, JC; Lee, LL; Yarov-Yarovoy, V; Despa, S; Bers, DM Na⁺/K⁺-ATPase E960 and phospholemman F28 are critical for their functional interaction.
Proc Natl Acad Sci U S A. 2012; 109(50):20756-20761 Doi: 10.1073/pnas.1207866109 [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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Raggam, RB; Salzer, HJF; Marth, E; Heiling, B; Paulitsch, AH; Buzina, W Molecular detection and characterisation of fungal heat shock protein 60
Mycoses. 2011; 54(5):e394-e399 Doi: 10.1111/j.1439-0507.2010.01933.x
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2010

Obermair, GJ; Schlick, B; Di Biase, V; Subramanyam, P; Gebhart, M; Baumgartner, S; Flucher, BE Reciprocal interactions regulate targeting of calcium channel beta subunits and membrane expression of alpha1 subunits in cultured hippocampal neurons.
J Biol Chem. 2010; 285(8):5776-5791 Doi: 10.1074/jbc.M109.044271 [OPEN ACCESS]
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Ribitsch, D; Winkler, S; Gruber, K; Karl, W; Wehrschütz-Sigl, E; Eiteljörg, I; Schratl, P; Remler, P; Stehr, R; Bessler, C; Mussmann, N; Sauter, K; Maurer, KH; Schwab, H Engineering of choline oxidase from Arthrobacter nicotianae for potential use as biological bleach in detergents.
Appl Microbiol Biotechnol. 2010; 87(5): 1743-1752. Doi: 10.1007/s00253-010-2637-9
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2009

Derler, I; Fahrner, M; Carugo, O; Muik, M; Bergsmann, J; Schindl, R; Frischauf, I; Eshaghi, S; Romanin, C Increased hydrophobicity at the N terminus/membrane interface impairs gating of the severe combined immunodeficiency-related ORAI1 mutant.
J Biol Chem. 2009; 284(23): 15903-15915. Doi: 10.1074/jbc.M808312200 [OPEN ACCESS]
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Faber, J; Henninger, N; Finn, A; Zenz, W; Zepp, F; Knuf, M A toll-like receptor 4 variant is associated with fatal outcome in children with invasive meningococcal disease.
Acta Paediatr. 2009; 98(3):548-552 Doi: 10.1111/j.1651-2227.2008.01163.x
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2008

Hoffmann, KM; Moser, A; Lohse, P; Winkler, A; Binder, B; Sovinz, P; Lackner, H; Schwinger, W; Benesch, M; Urban, C Successful treatment of progressive cutaneous mastocytosis with imatinib in a 2-year-old boy carrying a somatic KIT mutation.
Blood. 2008; 112(5): 1655-1657. Doi: 10.1182/blood-2008-03-147785 [OPEN ACCESS]
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Muik, M; Frischauf, I; Derler, I; Fahrner, M; Bergsmann, J; Eder, P; Schindl, R; Hesch, C; Polzinger, B; Fritsch, R; Kahr, H; Madl, J; Gruber, H; Groschner, K; Romanin, C Dynamic coupling of the putative coiled-coil domain of ORAI1 with STIM1 mediates ORAI1 channel activation.
J Biol Chem. 2008; 283(12):8014-8022 Doi: 10.1074/jbc.M708898200 [OPEN ACCESS]
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2006

Danzer, M; Polin, H; Faé, I; Fischer, GF; Gabriel, C Exon 1-4 sequence analysis of a novel HLA-A allele, HLA-A*2458.
Tissue Antigens. 2006; 68(2): 177-178. Doi: 10.1111/j.1399-0039.2006.00634.x
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Faber, J; Meyer, CU; Gemmer, C; Russo, A; Finn, A; Murdoch, C; Zenz, W; Mannhalter, C; Zabel, BU; Schmitt, HJ; Habermehl, P; Zepp, F; Knuf, M Human toll-like receptor 4 mutations are associated with susceptibility to invasive meningococcal disease in infancy.
PEDIAT INF DIS J. 2006; 25(1): 80-81. Doi: 10.1097/01.inf.0000195595.22547.fe
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Idzior-Walus, B; Sieradzki, J; Kostner, G; Malecki, MT; Klupa, T; Wesolowska, T; Rostworowski, W; Hartwich, J; Walus, M; Kiec, AD; Naruszewicz, M Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family.
ATHEROSCLEROSIS. 2006; 185(2): 413-420. Doi: 10.1016/j.atherosclerosis.2005.06.022
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2005

Körmöczi, GF; Förstemann, E; Gabriel, C; Mayr, WR; Schönitzer, D; Gassner, C Novel weak D types 31 and 32: adsorption-elution-supported D antigen analysis and comparison to prevalent weak D types.
Transfusion. 2005; 45(10): 1574-1580. Doi: 10.1111/j.1537-2995.2005.00580.x
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Marget, M; Bohlsen, D; Davarnia, P; Yoo-Ott, K; Kabelitz, D; Skerra, A; Steinmann, J A HLA-Cw6 specific single-chain antibody fragment (scFv) recognizing a natural killer cell receptor epitope.
Mol Immunol. 2005; 42(5): 643-649. Doi: 10.1016/j.molimm.2004.09.013
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2003

Kotze, MJ; Kriegshäuser, G; Thiart, R; de Villiers, NJ; Scholtz, CL; Kury, F; Moritz, A; Oberkanins, C Simultaneous detection of multiple familial hypercholesterolemia mutations facilitates an improved diagnostic service in South african patients at high risk of cardiovascular disease.
Mol Diagn. 2003; 7(3-4):169-174 Doi: 10.1007/BF03260034
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Solari, V; Ennis, S; Yoneda, A; Wong, L; Messineo, A; Höllwarth, ME; Green, A; Puri, P Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system.
J PEDIAT SURG 2003 38: 497-501. Doi: 10.1053/jpsu.2003.50087
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2001

Greber-Platzer, S; Marx, M; Fleischmann, C; Suppan, C; Dobner, M; Wimmer, M Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.
J Mol Cell Cardiol. 2001; 33(1):141-148 Doi: 10.1006/jmcc.2000.1287
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Hochhaus, A; Kreil, S; Corbin, A; La Rosée, P; Lahaye, T; Berger, U; Cross, NC; Linkesch, W; Druker, BJ; Hehlmann, R; Gambacorti- Passerini, C; Corneo, G; D'Incalci, M Roots of clinical resistance to STI-571 cancer therapy.
Science. 2001; 293(5538):2163-2163 Doi: 10.1126/science.293.5538.2163a [OPEN ACCESS]
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2000

Brodmann, M; Renner, W; Stark, G; Winkler, M; Pabst, E; Hofmann, C; Pilger, E Prothrombotic risk factors in patients with thrombangitis obliterans.
Thromb Res. 2000; 99(5):483-486 Doi: 10.1016%2FS0049-3848%2800%2900266-8
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Nauck, M; Stein, U; von Karger, S; März, W; Wieland, H Rapid detection of the C3435T polymorphism of multidrug resistance gene 1 using fluorogenic hybridization probes.
Clin Chem. 2000; 46(12):1995-1997 Doi: 10.1093/clinchem/46.12.1995 [OPEN ACCESS]
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Renner, W; Köppel, H; Hoffmann, C; Schallmoser, K; Stanger, O; Toplak, H; Wascher, TC; Pilger, E Prothrombin G20210A, factor V Leiden, and factor XIII Val34Leu: common mutations of blood coagulation factors and deep vein thrombosis in Austria.
THROMB RES 2000 99: 35-39. Doi: 10.1016%2FS0049-3848%2http://dx.doi.org/10.1016%2FS0049-3848%2800%2900219-X
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Zhai, J; Schmidt, AG; Hoit, BD; Kimura, Y; MacLennan, DH; Kranias, EG Cardiac-specific overexpression of a superinhibitory pentameric phospholamban mutant enhances inhibition of cardiac function in vivo.
J Biol Chem. 2000; 275(14): 10538-10544. Doi: 10.1074/jbc.275.14.10538 [OPEN ACCESS]
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Zvaritch, E; Backx, PH; Jirik, F; Kimura, Y; de Leon, S; Schmidt, AG; Hoit, BD; Lester, JW; Kranias, EG; MacLennan, DH The transgenic expression of highly inhibitory monomeric forms of phospholamban in mouse heart impairs cardiac contractility.
J Biol Chem. 2000; 275(20): 14985-14991. Doi: 10.1074/jbc.275.20.14985 [OPEN ACCESS]
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1999

de Campo, A; Toplak, H; Wascher, TC; Schallmoser, K; Friehs, A; Schmidt, H; Kostner, GM Evaluation of a newly discovered LDL receptor mutation (exon 10, GAC>AAC, D271N, FH Graz-1) in familial hypercholesterolemia-- a familystudy
ACTA MED AUST 1999 26: 20-25.
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Brinckmann, J; Açil, Y; Feshchenko, S; Katzer, E; Brenner, R; Kulozik, A; Kügler, S Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C).
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Feussner, G; Feussner, V; Hoffmann, MM; Lohrmann, J; Wieland, H; März, W Molecular basis of type III hyperlipoproteinemia in Germany.
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