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Publikationen

Suchbegriffe: MUTATION, MISSENSE - , . Treffer: 64

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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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 Doi: 10.1038/s41598-017-02197-y [OPEN ACCESS]
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2016

Anvarian, Z; Nojima, H; van Kappel, EC; Madl, T; Spit, M; Viertler, M; Jordens, I; Low, TY; van Scherpenzeel, RC; Kuper, I; Richter, K; Heck, AJ; Boelens, R; Vincent, JP; Rüdiger, SG; Maurice, MM Axin cancer mutants form nanoaggregates to rewire the Wnt signaling network.
Nat Struct Mol Biol. 2016; 23(4):324-332 Doi: 10.1038/nsmb.3191
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Grenkowitz, T; Kassner, U; Wühle-Demuth, M; Salewsky, B; Rosada, A; Zemojtel, T; Hopfenmüller, W; Isermann, B; Borucki, K; Heigl, F; Laufs, U; Wagner, S; Kleber, ME; Binner, P; März, W; Steinhagen-Thiessen, E; Demuth, I Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.
Atherosclerosis. 2016; 253(19-20):88-93 Doi: 10.1016/j.atherosclerosis.2016.08.037
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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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Seppälä, I; Kleber, ME; Bevan, S; Lyytikäinen, LP; Oksala, N; Hernesniemi, JA; Mäkelä, KM; Rothwell, PM; Sudlow, C; Dichgans, M; Mononen, N; Vlachopoulou, E; Sinisalo, J; Delgado, GE; Laaksonen, R; Koskinen, T; Scharnagl, H; Kähönen, M; Markus, HS; März, W; Lehtimäki, T Associations of functional alanine-glyoxylate aminotransferase 2 gene variants with atrial fibrillation and ischemic stroke.
Sci Rep. 2016; 6(5):23207-23207 Doi: 10.1038/srep23207 [OPEN ACCESS]
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2015

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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Heidari, A; Tongsook, C; Najafipour, R; Musante, L; Vasli, N; Garshasbi, M; Hu, H; Mittal, K; McNaughton, AJ; Sritharan, K; Hudson, M; Stehr, H; Talebi, S; Moradi, M; Darvish, H; Arshad Rafiq, M; Mozhdehipanah, H; Rashidinejad, A; Samiei, S; Ghadami, M; Windpassinger, C; Gillessen-Kaesbach, G; Tzschach, A; Ahmed, I; Mikhailov, A; Stavropoulos, DJ; Carter, MT; Keshavarz, S; Ayub, M; Najmabadi, H; Liu, X; Ropers, HH; Macheroux, P; Vincent, JB Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Hum Mol Genet. 2015; 24(20):5697-5710 Doi: 10.1093/hmg/ddv286 (- Case Report) [OPEN ACCESS]
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Kargl, S; Meissl, M; Pumberger, W Early postnatal diagnosis of Costello syndrome.
Klin Padiatr. 2015; 227(1): 45-47. Doi: 10.1055/s-0034-1377028
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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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Kolanczyk, M; Krawitz, P; Hecht, J; Hupalowska, A; Miaczynska, M; Marschner, K; Schlack, C; Emmerich, D; Kobus, K; Kornak, U; Robinson, PN; Plecko, B; Grangl, G; Uhrig, S; Mundlos, S; Horn, D Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Eur J Hum Genet. 2015; 23(5):633-638 Doi: 10.1038/ejhg.2014.109 (- 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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Milewska, M; Romano, D; Herrero, A; Guerriero, ML; Birtwistle, M; Quehenberger, F; Hatzl, S; Kholodenko, BN; Segatto, O; Kolch, W; Zebisch, A Mitogen-Inducible Gene-6 Mediates Feedback Inhibition from Mutated BRAF towards the Epidermal Growth Factor Receptor and Thereby Limits Malignant Transformation.
PLoS One. 2015; 10(6):e0129859-e0129859 Doi: 10.1371/journal.pone.0129859 [OPEN ACCESS]
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Troppan, K; Hofer, S; Wenzl, K; Lassnig, M; Pursche, B; Steinbauer, E; Wiltgen, M; Zulus, B; Renner, W; Beham-Schmid, C; Deutsch, A; Neumeister, P Frequent down regulation of the tumor suppressor gene a20 in multiple myeloma.
PLoS One. 2015; 10(4):e0123922-e0123922 Doi: 10.1371/journal.pone.0123922 [OPEN ACCESS]
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Vodopiutz, J; Schmook, MT; Konstantopoulou, V; Plecko, B; Greber-Platzer, S; Creus, M; Seidl, R; Janecke, AR MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.
Eur J Pediatr. 2015; 174(1): 113-118. Doi: 10.1007/s00431-014-2463-7
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2014

Akilzhanova, A; Guelly, C; Nuralinov, O; Nurkina, Z; Nazhat, D; Smagulov, S; Tursunbekov, A; Alzhanova, A; Rashbayeva, G; Abdrakhmanov, A; Dosmagambet, S; Trajanoski, S; Zhumadilov, Z; Sharman, A; Bekbosynova, M RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort.
PLoS One. 2014; 9(6):e101059-e101059 Doi: 10.1371/journal.pone.0101059 (- Case Report) [OPEN ACCESS]
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Hackenberg, A; Baumer, A; Sticht, H; Schmitt, B; Kroell-Seger, J; Wille, D; Joset, P; Papuc, S; Rauch, A; Plecko, B Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
Neuropediatrics. 2014; 45(4): 261-264. Doi: 10.1055/s-0034-1372302 (- Case Report) [OPEN ACCESS]
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Khan, MA; Rupp, VM; Orpinell, M; Hussain, MS; Altmüller, J; Steinmetz, MO; Enzinger, C; Thiele, H; Höhne, W; Nürnberg, G; Baig, SM; Ansar, M; Nürnberg, P; Vincent, JB; Speicher, MR; Gönczy, P; Windpassinger, C A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Hum Mol Genet. 2014; 23(22):5940-5949 Doi: 10.1093/hmg/ddu318 [OPEN ACCESS]
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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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Schulz, E; Klampfl, P; Holzapfel, S; Janecke, AR; Ulz, P; Renner, W; Kashofer, K; Nojima, S; Leitner, A; Zebisch, A; Wölfler, A; Hofer, S; Gerger, A; Lax, S; Beham-Schmid, C; Steinke, V; Heitzer, E; Geigl, JB; Windpassinger, C; Hoefler, G; Speicher, MR; Boland, CR; Kumanogoh, A; Sill, H Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.
Nat Commun. 2014; 5(10):5191-5191 Doi: 10.1038/ncomms6191 [OPEN ACCESS]
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2013

Damgaard, RB; Fiil, BK; Speckmann, C; Yabal, M; zur Stadt, U; Bekker-Jensen, S; Jost, PJ; Ehl, S; Mailand, N; Gyrd-Hansen, M Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling.
EMBO Mol Med. 2013; 5(8):1278-1295 Doi: 10.1002/emmm.201303090 [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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Makela, KM; Seppala, I; Hernesniemi, JA; Lyytikainen, LP; Oksala, N; Kleber, ME; Scharnagl, H; Grammer, TB; Baumert, J; Thorand, B; Jula, A; Hutri-Kahonen, N; Juonala, M; Laitinen, T; Laaksonen, R; Karhunen, PJ; Nikus, KC; Nieminen, T; Laurikka, J; Kuukasjarvi, P; Tarkka, M; Viik, J; Klopp, N; Illig, T; Kettunen, J; Ahotupa, M; Viikari, JSA; Kahonen, M; Raitakari, OT; Karakas, M; Koenig, W; Boehm, BO; Winkelmann, BR; Marz, W; Lehtimaki, T; Genome-Wide Association Study Pinpoints a New Functional Apolipoprotein B Variant Influencing Oxidized Low-Density Lipoprotein Levels But Not Cardiovascular Events AtheroRemo Consortium.
Circ Cardiovasc Genet. 2013; 6(1):73-81 Doi: 10.1161/CIRCGENETICS.112.964965 [OPEN ACCESS]
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Oates, EC; Rossor, AM; Hafezparast, M; Gonzalez, M; Speziani, F; MacArthur, DG; Lek, M; Cottenie, E; Scoto, M; Foley, AR; Hurles, M; Houlden, H; Greensmith, L; Auer-Grumbach, M; Pieber, TR; Strom, TM; Schule, R; Herrmann, DN; Sowden, JE; Acsadi, G; Menezes, MP; Clarke, NF; Züchner, S; UK10K; Muntoni, F; North, KN; Reilly, MM Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.
Am J Hum Genet. 2013; 92(6):965-973 Doi: 10.1016/j.ajhg.2013.04.018 [OPEN ACCESS]
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Olschewski, A; Nagaraj, C; Olschewski, H A novel channelopathy in pulmonary arterial hypertension.
N Engl J Med. 2013; 369(22):2161-2161 Doi: 10.1056/NEJMc1311060#SA1 [OPEN ACCESS]
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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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2012

Dufke, C; Schlipf, N; Schule, R; Bonin, M; Auer-Grumbach, M; Stevanin, G; Depienne, C; Kassubek, J; Klebe, S; Klimpe, S; Klopstock, T; Otto, S; Poths, S; Seibel, A; Stolze, H; Gal, A; Schols, L; Bauer, P; A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
NEUROGENETICS. 2012; 13(3): 215-227. Doi: 10.1007/s10048-012-0329-6
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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 Doi: 10.1055/s-0032-1323836 (- Case Report)
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Van Der Werf, CS; Wabbersen, TD; Hsiao, NH; Paredes, J; Etchevers, HC; Kroisel, PM; Tibboel, D; Babarit, C; Schreiber, RA; Hoffenberg, EJ; Vekemans, M; Zeder, SL; Ceccherini, I; Lyonnet, S; Ribeiro, AS; Seruca, R; Te Meerman, GJ; van Ijzendoorn, SC; Shepherd, IT; Verheij, JB; Hofstra, RM CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
Gastroenterology. 2012; 142(3):453-462 Doi: 10.1053/j.gastro.2011.11.038
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Zimon, M; Baets, J; Almeida-Souza, L; De Vriendt, E; Nikodinovic, J; Parman, Y; Battaloglu, E; Matur, Z; Guergueltcheva, V; Tournev, I; Auer-Grumbach, M; De Rijk, P; Petersen, BS; Muller, T; Fransen, E; Van Damme, P; Loscher, WN; Barisic, N; Mitrovic, Z; Previtali, SC; Topaloglu, H; Bernert, G; Beleza-Meireles, A; Todorovic, S; Savic-Pavicevic, D; Ishpekova, B; Lechner, S; Peeters, K; Ooms, T; Hahn, AF; Zuchner, S; Timmerman, V; Van Dijck, P; Rasic, VM; Janecke, AR; De Jonghe, P; Jordanova, A; Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
NAT GENET. 2012; 44(10): 1080-1083. Doi: 10.1038/ng.2406
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2011

Al Kaissi, A; M Roetzer, K; Ulz, P; Heitzer, E; Klaushofer, K; Grill, F Extra phenotypic features in a girl with Miller syndrome.
Clin Dysmorphol. 2011; 20(2): 66-72. Doi: 10.1097/MCD.0b013e3283416701
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Bhat, V; Girimaji, SC; Mohan, G; Arvinda, HR; Singhmar, P; Duvvari, MR; Kumar, A Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.
Clin Genet. 2011; 80(6): 532-540. Doi: 10.1111/j.1399-0004.2011.01686.x
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Guelly, C; Zhu, PP; Leonardis, L; Papic, L; Zidar, J; Schabhüttl, M; Strohmaier, H; Weis, J; Strom, TM; Baets, J; Willems, J; De Jonghe, P; Reilly, MM; Fröhlich, E; Hatz, M; Trajanoski, S; Pieber, TR; Janecke, AR; Blackstone, C; Auer-Grumbach, M Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
Am J Hum Genet. 2011; 88(1):99-105 Doi: 10.1016/j.ajhg.2010.12.003 [OPEN ACCESS]
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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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Pansuriya, TC; van Eijk, R; d'Adamo, P; van Ruler, MA; Kuijjer, ML; Oosting, J; Cleton-Jansen, AM; van Oosterwijk, JG; Verbeke, SL; Meijer, D; van Wezel, T; Nord, KH; Sangiorgi, L; Toker, B; Liegl-Atzwanger, B; San-Julian, M; Sciot, R; Limaye, N; Kindblom, LG; Daugaard, S; Godfraind, C; Boon, LM; Vikkula, M; Kurek, KC; Szuhai, K; French, PJ; Bove, JV Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.
NAT GENET. 2011; 43(12): 1256-1261. Doi: 10.1038/ng.1004 [OPEN ACCESS]
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Stelzl, E; Pröll, J; Bizon, B; Niklas, N; Danzer, M; Hackl, C; Stabentheiner, S; Gabriel, C; Kessler, HH Human immunodeficiency virus type 1 drug resistance testing: Evaluation of a new ultra-deep sequencing-based protocol and comparison with the TRUGENE HIV-1 Genotyping Kit.
J Virol Methods. 2011; 178(1-2):94-97 Doi: 10.1016/j.jviromet.2011.08.020
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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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Stelzl, E; Troppan, KT; Winkler, M; Korn, K; Kessler, HH Optimized protocol for detection of HIV-1 drug mutations in patients with low viral load.
J VIROL METH. 2010; 168(1-2): 152-154. Doi: 10.1016/j.jviromet.2010.05.007
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Wolf, EM; Geigl, JB; Svrcek, M; Vieth, M; Langner, C Hereditary gastric cancer].
Pathologe. 2010; 31(6):423-429 Doi: 10.1007/s00292-010-1353-7
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Zimon, M; Baets, J; Auer-Grumbach, M; Berciano, J; Garcia, A; Lopez-Laso, E; Merlini, L; Hilton-Jones, D; McEntagart, M; Crosby, AH; Barisic, N; Boltshauser, E; Shaw, CE; Landoure, G; Ludlow, CL; Gaudet, R; Houlden, H; Reilly, MM; Fischbeck, KH; Sumner, CJ; Timmerman, V; Jordanova, A; De Jonghe, P Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
BRAIN. 2010; 133(Pt 6): 1798-1809. Doi: 10.1093/brain/awq109 [OPEN ACCESS]
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2009

Auner, V; Kriegshäuser, G; Tong, D; Horvat, R; Reinthaller, A; Mustea, A; Zeillinger, R KRAS mutation analysis in ovarian samples using a high sensitivity biochip assay.
BMC Cancer. 2009; 9(1): 111-111. Doi: 10.1186/1471-2407-9-111 [OPEN ACCESS]
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Gattenlohner, S; Serfling, E; Einsele, H; Muller-Hermelink, HK Molecular insights into the morphology of myeloproliferative neoplasms using an in situ PCR assay specific for the JAK2 mutation V617F.
Leukemia. 2009; 23(1):196-199 Doi: 10.1038/leu.2008.168 [OPEN ACCESS]
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Hofer, D; Paul, K; Fantur, K; Beck, M; Burger, F; Caillaud, C; Fumic, K; Ledvinova, J; Lugowska, A; Michelakakis, H; Radeva, B; Ramaswami, U; Plecko, B; Paschke, E GM1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid beta-Galactosidase
HUM MUTAT. 2009; 30(8): 1214-1221. Doi: 10.1002/humu.21031
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Zebisch, A; Haller, M; Hiden, K; Goebel, T; Hoefler, G; Troppmair, J; Sill, H Loss of RAF kinase inhibitor protein is a somatic event in the pathogenesis of therapy-related acute myeloid leukemias with C-RAF germline mutations.
Leukemia. 2009; 23(6): 1049-1053. Doi: 10.1038/leu.2009.68 [OPEN ACCESS]
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2008

Dierick, I; Baets, J; Irobi, J; Jacobs, A; De Vriendt, E; Deconinck, T; Merlini, L; Van den Bergh, P; Rasic, VM; Robberecht, W; Fischer, D; Morales, RJ; Mitrovic, Z; Seeman, P; Mazanec, R; Kochanski, A; Jordanova, A; Auer-Grumbach, M; Helderman-van den Enden, ATJM; Wokke, JHJ; Nelis, E; De Jonghe, P; Timmerman, V Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Brain. 2008; 131(Pt 5):1217-1227 Doi: 10.1093/brain/awn029 [OPEN ACCESS]
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Keck, ME; Kern, N; Erhardt, A; Unschuld, PG; Ising, M; Salyakina, D; Müller, MB; Knorr, CC; Lieb, R; Hohoff, C; Krakowitzky, P; Maier, W; Bandelow, B; Fritze, J; Deckert, J; Holsboer, F; Müller-Myhsok, B; Binder, EB Combined effects of exonic polymorphisms in CRHR1 and AVPR1B genes in a case/control study for panic disorder.
Am J Med Genet B Neuropsychiatr Genet. 2008; 147B(7): 1196-1204. Doi: 10.1002/ajmg.b.30750
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Kluger, G; Blank, R; Paul, K; Paschke, E; Jansen, E; Jakobs, C; Wörle, H; Plecko, B Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.
Neuropediatrics. 2008; 39(5):276-279 Doi: 10.1055/s-0029-1202833
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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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