Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: MUTATION - GENETICS , . Treffer: 240
2023
Enko, D; Schaflinger, E; Müller, DJ
[Clinical Application Examples of a Next-Generation Sequencing based Multi-Genepanel Analysis].
Dtsch Med Wochenschr. 2023; 148(11):695-702
Doi: 10.1055/a-2033-5329
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Pöltl, L; Kitsera, M; Raffl, S; Schild, S; Cosic, A; Kienesberger, S; Unterhauser, K; Raber, G; Lembacher-Fadum, C; Breinbauer, R; Gorkiewicz, G; Sebastian, C; Hoefler, G; Zechner, EL
Microbiota-derived genotoxin tilimycin generates colonic stem cell mutations.
Cell Rep. 2023; 42(3):112199
Doi: 10.1016/j.celrep.2023.112199
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2022
Muzammal, M; Ali, MZ; Brugger, B; Blatterer, J; Ahmad, S; Taj, S; Shah, SK; Khan, S; Enzinger, C; Petek, E; Wagner, K; Khan, MA; Windpassinger, C
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.
Metab Brain Dis. 2022; 37(1):243-252
Doi: 10.1007/s11011-021-00832-2
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2021
Alderson, TR; Kay, LE
NMR spectroscopy captures the essential role of dynamics in regulating biomolecular function.
Cell. 2021; 184(3): 577-595.
Doi: 10.1016/j.cell.2020.12.034
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Flume, PA; Biner, RF; Downey, DG; Brown, C; Jain, M; Fischer, R; De, Boeck, K; Sawicki, GS; Chang, P; Paz-Diaz, H; Rubin, JL; Yang, Y; Hu, X; Pasta, DJ; Millar, SJ; Campbell, D; Wang, X; Ahluwalia, N; Owen, CA; Wainwright, CE, , VX14-661-110, study, group
Long-term safety and efficacy of tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years or older who are homozygous or heterozygous for Phe508del CFTR (EXTEND): an open-label extension study.
Lancet Respir Med. 2021; 9(7): 733-746.
Doi: 10.1016/S2213-2600(20)30510-5
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Grininger, C; Leypold, M; Aschauer, P; Pavkov-Keller, T; Riegler-Berket, L; Breinbauer, R; Oberer, M
Structural Changes in the Cap of Rv0183/mtbMGL Modulate the Shape of the Binding Pocket.
Biomolecules. 2021; 11(9):
Doi: 10.3390/biom11091299
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Höller, V; Seebacher, H; Zach, D; Schwegel, N; Ablasser, K; Kolesnik, E; Gollmer, J; Waltl, G; Rainer, PP; Verheyen, S; Zirlik, A; Verheyen, N
Myocardial Deformation Analysis in MYBPC3 and MYH7 Related Sarcomeric Hypertrophic Cardiomyopathy-The Graz Hypertrophic Cardiomyopathy Registry.
Genes (Basel). 2021; 12(10):
Doi: 10.3390/genes12101469
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Najumudeen, AK; Ceteci, F; Fey, SK; Hamm, G; Steven, RT; Hall, H; Nikula, CJ; Dexter, A; Murta, T; Race, AM; Sumpton, D; Vlahov, N; Gay, DM; Knight, JRP; Jackstadt, R; Leach, JDG; Ridgway, RA; Johnson, ER; Nixon, C; Hedley, A; Gilroy, K; Clark, W; Malla, SB; Dunne, PD; Rodriguez-Blanco, G; Critchlow, SE; Mrowinska, A; Malviya, G; Solovyev, D; Brown, G; Lewis, DY; Mackay, GM; Strathdee, D; Tardito, S; Gottlieb, E; Takats, Z; Barry, ST; Goodwin, RJA; Bunch, J; Bushell, M; Campbell, AD; Sansom, OJ, , CRUK, Rosetta, Grand, Challenge, Consortium
The amino acid transporter SLC7A5 is required for efficient growth of KRAS-mutant colorectal cancer.
Nat Genet. 2021; 53(1):16-26
Doi: 10.1038/s41588-020-00753-3
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Schnedl, WJ; Holasek, SJ; Schenk, M; Enko, D; Mangge, H
Diagnosis of hepatic nuclear factor 1A monogenic diabetes mellitus (HNF1A-MODY) impacts antihyperglycemic treatment.
Wien Klin Wochenschr. 2021; 133(5-6):241-244
Doi: 10.1007/s00508-020-01770-2
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2020
Alonso, N; Larraz-Prieto, B; Berg, K; Lambert, Z; Redmond, P; Harris, SE; Deary, IJ; Pugh, C; Prendergast, J; Ralston, SH
Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase.
J Bone Miner Res. 2020; 35(4):657-661
Doi: 10.1002/jbmr.3928
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Steel, D; Zech, M; Zhao, C; Barwick, KES; Burke, D; Demailly, D; Kumar, KR; Zorzi, G; Nardocci, N; Kaiyrzhanov, R; Wagner, M; Iuso, A; Berutti, R; Škorvánek, M; Necpál, J; Davis, R; Wiethoff, S; Mankad, K; Sudhakar, S; Ferrini, A; Sharma, S; Kamsteeg, EJ; Tijssen, MA; Verschuuren, C; van Egmond, ME; Flowers, JM; McEntagart, M; Tucci, A; Coubes, P; Bustos, BI; Gonzalez-Latapi, P; Tisch, S; Darveniza, P; Gorman, KM; Peall, KJ; Bötzel, K; Koch, JC; Kmieć, T; Plecko, B; Boesch, S; Haslinger, B; Jech, R; Garavaglia, B; Wood, N; Houlden, H; Gissen, P; Lubbe, SJ; Sue, CM; Cif, L; Mencacci, NE; Anderson, G; Kurian, MA; Winkelmann, J; Genomics England Research Consortium
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol. 2020; 88(5):867-877
Doi: 10.1002/ana.25879
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Tsang, B; Pritišanac, I; Scherer, SW; Moses, AM; Forman-Kay, JD
Phase Separation as a Missing Mechanism for Interpretation of Disease Mutations.
Cell. 2020; 183(7):1742-1756
Doi: 10.1016/j.cell.2020.11.050
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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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2018
Davidson, B; Pinamonti, M; Cuevas, D; Holth, A; Zeppa, P; Hager, T; Wohlschlaeger, J; Tötsch, M
The diagnostic role of PTEN and ARID1A in serous effusions.
Virchows Arch. 2018; 472(3):425-432
Doi: 10.1007/s00428-017-2273-1
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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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Greif, PA; Hartmann, L; Vosberg, S; Stief, SM; Mattes, R; Hellmann, I; Metzeler, KH; Herold, T; Bamopoulos, SA; Kerbs, P; Jurinovic, V; Schumacher, D; Pastore, F; Bräundl, K; Zellmeier, E; Ksienzyk, B; Konstandin, NP; Schneider, S; Graf, A; Krebs, S; Blum, H; Neumann, M; Baldus, CD; Bohlander, SK; Wolf, S; Görlich, D; Berdel, WE; Wörmann, BJ; Hiddemann, W; Spiekermann, K
Evolution of Cytogenetically Normal Acute Myeloid Leukemia During Therapy and Relapse: An Exome Sequencing Study of 50 Patients.
Clin Cancer Res. 2018; 24(7): 1716-1726.
Doi: 10.1158/1078-0432.CCR-17-2344
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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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Löscher, WN; Huemer, M; Stulnig, TM; Simschitz, P; Iglseder, S; Eggers, C; Moser, H; Möslinger, D; Freilinger, M; Lagler, F; Grinzinger, S; Reichhardt, M; Bittner, RE; Schmidt, WM; Lex, U; Brunner-Krainz, M; Quasthoff, S; Wanschitz, JV
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
J Neurol. 2018; 265(1):159-164
Doi: 10.1007/s00415-017-8686-6
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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
Doi: 10.1007/s10875-017-0443-1
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Chao, MP; Gentles, AJ; Chatterjee, S; Lan, F; Reinisch, A; Corces, MR; Xavy, S; Shen, J; Haag, D; Chanda, S; Sinha, R; Morganti, RM; Nishimura, T; Ameen, M; Wu, H; Wernig, M; Wu, JC; Majeti, R
Human AML-iPSCs Reacquire Leukemic Properties after Differentiation and Model Clonal Variation of Disease.
Cell Stem Cell. 2017; 20(3): 329-344.
Doi: 10.1016/j.stem.2016.11.018
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Hackenberg, A; Boltshauser, E; Gerth-Kahlert, C; Stahr, N; Azzarello-Burri, S; Plecko, B
Horizontal Gaze Palsy in Two Brothers with Compound Heterozygous ROBO3 Gene Mutations.
Neuropediatrics. 2017; 48(1): 57-58.
Doi: 10.1055/s-0036-1597610
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Hasham, MG; Baxan, N; Stuckey, DJ; Branca, J; Perkins, B; Dent, O; Duffy, T; Hameed, TS; Stella, SE; Bellahcene, M; Schneider, MD; Harding, SE; Rosenthal, N; Sattler, S
Systemic autoimmunity induced by the TLR7/8 agonist Resiquimod causes myocarditis and dilated cardiomyopathy in a new mouse model of autoimmune heart disease.
Dis Model Mech. 2017; 10(3): 259-270.
Doi: 10.1242/dmm.027409
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Herold, T; Metzeler, KH; Vosberg, S; Hartmann, L; Jurinovic, V; Opatz, S; Konstandin, NP; Schneider, S; Zellmeier, E; Ksienzyk, B; Graf, A; Krebs, S; Blum, H; Cristina Sauerland, M; Büchner, T; Berdel, WE; Wörmann, BJ; Mansmann, U; Hiddemann, W; Bohlander, SK; Spiekermann, K; Greif, PA
Acute myeloid leukemia with del(9q) is characterized by frequent mutations of NPM1, DNMT3A, WT1 and low expression of TLE4.
Genes Chromosomes Cancer. 2017; 56(1): 75-86.
Doi: 10.1002/gcc.22418
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Kiefer, FW; Winhofer, Y; Iacovazzo, D; Korbonits, M; Wolfsberger, S; Knosp, E; Trautinger, F; Höftberger, R; Krebs, M; Luger, A; Gessl, A
PRKAR1A mutation causing pituitary-dependent Cushing disease in a patient with Carney complex.
Eur J Endocrinol. 2017; 177(2):K7-K12
Doi: 10.1530/EJE-17-0227
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Richtig, G; Hoeller, C; Kashofer, K; Aigelsreiter, A; Heinemann, A; Kwong, LN; Pichler, M; Richtig, E
Beyond the BRAFV600E hotspot: biology and clinical implications of rare BRAF gene mutations in melanoma patients.
Br J Dermatol. 2017; 177(4):936-944
Doi: 10.1111/bjd.15436
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Richtig, G; Richtig, E; Kashofer, K; Koch, L; Winter, G; Hoefler, G; Pichler, M; Ehall, B; Grübler, MR; Heinemann, A; Aigelsreiter, A
Testing and clinical implications for non-V600 BRAF mutations in metastatic NRASmt melanoma.
Br J Dermatol. 2017; 177(3):860-861
Doi: 10.1111/bjd.15222
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2016
Auer-Grumbach, M; Toegel, S; Schabhüttl, M; Weinmann, D; Chiari, C; Bennett, DLH; Beetz, C; Klein, D; Andersen, PM; Böhme, I; Fink-Puches, R; Gonzalez, M; Harms, MB; Motley, W; Reilly, MM; Renner, W; Rudnik-Schöneborn, S; Schlotter-Weigel, B; Themistocleous, AC; Weishaupt, JH; Ludolph, AC; Wieland, T; Tao, F; Abreu, L; Windhager, R; Zitzelsberger, M; Strom, TM; Walther, T; Scherer, SS; Züchner, S; Martini, R; Senderek, J
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Am J Hum Genet. 2016; 99(3):607-623
Doi: 10.1016/j.ajhg.2016.07.008
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Dernayka, L; Rauch, N; Jarboui, MA; Zebisch, A; Texier, Y; Horn, N; Romano, D; Gloeckner, CJ; Kriegsheim, Av; Ueffing, M; Kolch, W; Boldt, K
Autophosphorylation on S614 inhibits the activity and the transforming potential of BRAF.
Cell Signal. 2016; 28(9):1432-1439
Doi: 10.1016/j.cellsig.2016.06.016
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Endris, V; Stenzinger, A; Pfarr, N; Penzel, R; Möbs, M; Lenze, D; Darb-Esfahani, S; Hummel, M; Sabine-Merkelbach-Bruse, M; Jung, A; Lehmann, U; Kreipe, H; Kirchner, T; Büttner, R; Jochum, W; Höfler, G; Dietel, M; Weichert, W; Schirmacher, P
NGS-based BRCA1/2 mutation testing of high-grade serous ovarian cancer tissue: results and conclusions of the first international round robin trial.
Virchows Arch. 2016; 468(6):697-705
Doi: 10.1007/s00428-016-1919-8
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Huemer, M; Mulder-Bleile, R; Burda, P; Froese, DS; Suormala, T; Zeev, BB; Chinnery, PF; Dionisi-Vici, C; Dobbelaere, D; Gökcay, G; Demirkol, M; Häberle, J; Lossos, A; Mengel, E; Morris, AA; Niezen-Koning, KE; Plecko, B; Parini, R; Rokicki, D; Schiff, M; Schimmel, M; Sewell, AC; Sperl, W; Spiekerkoetter, U; Steinmann, B; Taddeucci, G; Trejo-Gabriel-Galán, JM; Trefz, F; Tsuji, M; Vilaseca, MA; von Kleist-Retzow, JC; Walker, V; Zeman, J; Baumgartner, MR; Fowler, B
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
J Inherit Metab Dis. 2016; 39(1): 115-124.
Doi: 10.1007/s10545-015-9860-6
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Mlecnik, B; Bindea, G; Angell, HK; Maby, P; Angelova, M; Tougeron, D; Church, SE; Lafontaine, L; Fischer, M; Fredriksen, T; Sasso, M; Bilocq, AM; Kirilovsky, A; Obenauf, AC; Hamieh, M; Berger, A; Bruneval, P; Tuech, JJ; Sabourin, JC; Le Pessot, F; Mauillon, J; Rafii, A; Laurent-Puig, P; Speicher, MR; Trajanoski, Z; Michel, P; Sesboüe, R; Frebourg, T; Pagès, F; Valge-Archer, V; Latouche, JB; Galon, J
Integrative Analyses of Colorectal Cancer Show Immunoscore Is a Stronger Predictor of Patient Survival Than Microsatellite Instability.
Immunity. 2016; 44(3):698-711
Doi: 10.1016/j.immuni.2016.02.025
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Mlecnik, B; Bindea, G; Kirilovsky, A; Angell, HK; Obenauf, AC; Tosolini, M; Church, SE; Maby, P; Vasaturo, A; Angelova, M; Fredriksen, T; Mauger, S; Waldner, M; Berger, A; Speicher, MR; Pagès, F; Valge-Archer, V; Galon, J
The tumor microenvironment and Immunoscore are critical determinants of dissemination to distant metastasis.
Sci Transl Med. 2016; 8(327):327ra26-327ra26
Doi: 10.1126/scitranslmed.aad6352
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St John, EP; Simen, BB; Turenchalk, GS; Braverman, MS; Abbate, I; Aerssens, J; Bouchez, O; Gabriel, C; Izopet, J; Meixenberger, K; Di Giallonardo, F; Schlapbach, R; Paredes, R; Sakwa, J; Schmitz-Agheguian, GG; Thielen, A; Victor, M; Metzner, KJ; Däumer, MP; 454 HIV-1 Alpha Study Group
A Follow-Up of the Multicenter Collaborative Study on HIV-1 Drug Resistance and Tropism Testing Using 454 Ultra Deep Pyrosequencing.
PLoS One. 2016; 11(1):e0146687-e0146687
Doi: 10.1371/journal.pone.0146687
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Tuller, F; Holzer, H; Schanda, K; Aboulenein-Djamshidian, F; Höftberger, R; Khalil, M; Seifert-Held, T; Leutmezer, F; Berger, T; Reindl, M
Characterization of the binding pattern of human aquaporin-4 autoantibodies in patients with neuromyelitis optica spectrum disorders.
J Neuroinflammation. 2016; 13(1):176-176
Doi: 10.1186/s12974-016-0642-3
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Weerakkody, RA; Vandrovcova, J; Kanonidou, C; Mueller, M; Gampawar, P; Ibrahim, Y; Norsworthy, P; Biggs, J; Abdullah, A; Ross, D; Black, HA; Ferguson, D; Cheshire, NJ; Kazkaz, H; Grahame, R; Ghali, N; Vandersteen, A; Pope, FM; Aitman, TJ
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
Genet Med. 2016; 18(11):1119-1127
Doi: 10.1038/gim.2016.14
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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
Doi: 10.1161/CIRCGENETICS.115.001193
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2015
Aoude, LG; Heitzer, E; Johansson, P; Gartside, M; Wadt, K; Pritchard, AL; Palmer, JM; Symmons, J; Gerdes, AM; Montgomery, GW; Martin, NG; Tomlinson, I; Kearsey, S; Hayward, NK
POLE mutations in families predisposed to cutaneous melanoma.
Fam Cancer. 2015; 14(4):621-628
Doi: 10.1007/s10689-015-9826-8
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Do, R; Stitziel, NO; Won, HH; Jørgensen, AB; Duga, S; Angelica Merlini, P; Kiezun, A; Farrall, M; Goel, A; Zuk, O; Guella, I; Asselta, R; Lange, LA; Peloso, GM; Auer, PL; NHLBI Exome Sequencing Project; Girelli, D; Martinelli, N; Farlow, DN; DePristo, MA; Roberts, R; Stewart, AF; Saleheen, D; Danesh, J; Epstein, SE; Sivapalaratnam, S; Hovingh, GK; Kastelein, JJ; Samani, NJ; Schunkert, H; Erdmann, J; Shah, SH; Kraus, WE; Davies, R; Nikpay, M; Johansen, CT; Wang, J; Hegele, RA; Hechter, E; Marz, W; Kleber, ME; Huang, J; Johnson, AD; Li, M; Burke, GL; Gross, M; Liu, Y; Assimes, TL; Heiss, G; Lange, EM; Folsom, AR; Taylor, HA; Olivieri, O; Hamsten, A; Clarke, R; Reilly, DF; Yin, W; Rivas, MA; Donnelly, P; Rossouw, JE; Psaty, BM; Herrington, DM; Wilson, JG; Rich, SS; Bamshad, MJ; Tracy, RP; Cupples, LA; Rader, DJ; Reilly, MP; Spertus, JA; Cresci, S; Hartiala, J; Tang, WH; Hazen, SL; Allayee, H; Reiner, AP; Carlson, CS; Kooperberg, C; Jackson, RD; Boerwinkle, E; Lander, ES; Schwartz, SM; Siscovick, DS; McPherson, R; Tybjaerg-Hansen, A; Abecasis, GR; Watkins, H; Nickerson, DA; Ardissino, D; Sunyaev, SR; O'Donnell, CJ; Altshuler, D; Gabriel, S; Kathiresan, S
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
NATURE. 2015; 518(7537): 102-106.
Doi: 10.1038/nature13917
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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
Doi: 10.1016/j.clcc.2014.12.003
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Reinthaler, EM; Dejanovic, B; Lal, D; Semtner, M; Merkler, Y; Reinhold, A; Pittrich, DA; Hotzy, C; Feucht, M; Steinböck, H; Gruber-Sedlmayr, U; Ronen, GM; Neophytou, B; Geldner, J; Haberlandt, E; Muhle, H; Ikram, MA; van Duijn, CM; Uitterlinden, AG; Hofman, A; Altmüller, J; Kawalia, A; Toliat, MR; EuroEPINOMICS Consortium; Nürnberg, P; Lerche, H; Nothnagel, M; Thiele, H; Sander, T; Meier, JC; Schwarz, G; Neubauer, BA; Zimprich, F
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Ann Neurol. 2015; 77(6):972-986
Doi: 10.1002/ana.24395
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Roos, A; Weis, J; Korinthenberg, R; Fehrenbach, H; Häusler, M; Züchner, S; Mache, C; Hubmann, H; Auer-Grumbach, M; Senderek, J
Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.
J Peripher Nerv Syst. 2015; 20(1):52-59
Doi: 10.1111/jns.12106
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Viswanathan, G; Joshi, SV; Sridhar, A; Dutta, S; Raghunand, TR
Identifying novel mycobacterial stress associated genes using a random mutagenesis screen in Mycobacterium smegmatis.
Gene. 2015; 574(1): 20-7.
Doi: 10.1016/j.gene.2015.07.063
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Zopf, A; Raim, R; Danzer, M; Niklas, N; Spilka, R; Pröll, J; Gabriel, C; Nechansky, A; Roucka, M
Introduction of the hybcell-based compact sequencing technology and comparison to state-of-the-art methodologies for KRAS mutation detection.
Biotechniques. 2015; 58(3):126-134
Doi: 10.2144/000114264
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2014
Karimi, E; Karkhane, AA; Yakhchali, B; Shamsara, M; Aminzadeh, S; Torktaz, I; Hosseini, M; Safari, Z
Study of the effect of F17A mutation on characteristics of Bacillus thermocatenulatus lipase expressed in Pichia pastoris using in silico and experimental methods.
Biotechnol Appl Biochem. 2014; 61(3): 264-273.
Doi: 10.1002/bab.1164
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Künnapuu, J; Tauscher, PM; Tiusanen, N; Nguyen, M; Löytynoja, A; Arora, K; Shimmi, O
Cleavage of the Drosophila screw prodomain is critical for a dynamic BMP morphogen gradient in embryogenesis.
Dev Biol. 2014; 389(2): 149-59.
Doi: 10.1016/j.ydbio.2014.02.007
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Lee, W; Teckie, S; Wiesner, T; Ran, L; Prieto Granada, CN; Lin, M; Zhu, S; Cao, Z; Liang, Y; Sboner, A; Tap, WD; Fletcher, JA; Huberman, KH; Qin, LX; Viale, A; Singer, S; Zheng, D; Berger, MF; Chen, Y; Antonescu, CR; Chi, P
PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors.
Nat Genet. 2014; 46(11): 1227-1232.
Doi: 10.1038/ng.3095
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Löffler, T; Flunkert, S; Havas, D; Schweinzer, C; Uger, M; Windisch, M; Steyrer, E; Hutter-Paier, B
Neuroinflammation and related neuropathologies in APPSL mice: further value of this in vivo model of Alzheimer's disease.
J Neuroinflammation. 2014; 11(7):84-84
Doi: 10.1186/1742-2094-11-84
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Mills, PB; Camuzeaux, SS; Footitt, EJ; Mills, KA; Gissen, P; Fisher, L; Das, KB; Varadkar, SM; Zuberi, S; McWilliam, R; Stödberg, T; Plecko, B; Baumgartner, MR; Maier, O; Calvert, S; Riney, K; Wolf, NI; Livingston, JH; Bala, P; Morel, CF; Feillet, F; Raimondi, F; Del Giudice, E; Chong, WK; Pitt, M; Clayton, PT
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Brain. 2014; 137(Pt 5): 1350-1360.
Doi: 10.1093/brain/awu051
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Pircher, A; Manzl, C; Fiegl, M; Popper, H; Pirker, R; Hilbe, W
Overcoming resistance to first generation EGFR TKIs with cetuximab in combination with chemotherapy in an EGFR mutated advanced stage NSCLC patient.
Lung Cancer. 2014; 83(3): 408-410.
Doi: 10.1016/j.lungcan.2013.12.007
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Rao, S; Tortola, L; Perlot, T; Wirnsberger, G; Novatchkova, M; Nitsch, R; Sykacek, P; Frank, L; Schramek, D; Komnenovic, V; Sigl, V; Aumayr, K; Schmauss, G; Fellner, N; Handschuh, S; Glösmann, M; Pasierbek, P; Schlederer, M; Resch, GP; Ma, Y; Yang, H; Popper, H; Kenner, L; Kroemer, G; Penninger, JM
A dual role for autophagy in a murine model of lung cancer.
Nat Commun. 2014; 5(5):3056-3056
Doi: 10.1038/ncomms4056
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