Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Publikationen
Suchbegriffe: AMINO ACID SEQUENCE - , . Treffer: 298
2020
Strandback, E; Lienhart, WD; Hromic-Jahjefendic, A; Bourgeois, B; Högler, A; Waltenstorfer, D; Winkler, A; Zangger, K; Madl, T; Gruber, K; Macheroux, P
A small molecule chaperone rescues the stability and activity of a cancer-associated variant of NAD(P)H:quinone oxidoreductase 1 in vitro.
FEBS Lett. 2020; 594(3):424-438
Doi: 10.1002/1873-3468.13636
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2019
Dengler, MA; Robin, AY; Gibson, L; Li, MX; Sandow, JJ; Iyer, S; Webb, AI; Westphal, D; Dewson, G; Adams, JM
BAX Activation: Mutations Near Its Proposed Non-canonical BH3 Binding Site Reveal Allosteric Changes Controlling Mitochondrial Association.
Cell Rep. 2019; 27(2):359-373
Doi: 10.1016/j.celrep.2019.03.040
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Gavin, DP; Reen, FJ; Rocha-Martin, J; Abreu-Castilla, I; Woods, DF; Foley, AM; Sánchez-Murcia, PA; Schwarz, M; O'Neill, P; Maguire, AR; O'Gara, F
Genome mining and characterisation of a novel transaminase with remote stereoselectivity.
Sci Rep. 2019; 9(1):20285-20285
Doi: 10.1038/s41598-019-56612-7
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2017
Bode, GH; Coué, G; Freese, C; Pickl, KE; Sanchez-Purrà, M; Albaiges, B; Borrós, S; van Winden, EC; Tziveleka, LA; Sideratou, Z; Engbersen, JFJ; Singh, S; Albrecht, K; Groll, J; Möller, M; Pötgens, AJG; Schmitz, C; Fröhlich, E; Grandfils, C; Sinner, FM; Kirkpatrick, CJ; Steinbusch, HWM; Frank, HG; Unger, RE; Martinez-Martinez, P
An in vitro and in vivo study of peptide-functionalized nanoparticles for brain targeting: The importance of selective blood-brain barrier uptake.
Nanomedicine. 2017; 13(3):1289-1300
Doi: 10.1016/j.nano.2016.11.009
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Crespo, N; Sánchez-Murcia, PA; Gago, F; Cejudo-Sanches, J; Galmes, MA; Fernández-Lucas, J; Mancheño, JM
2'-Deoxyribosyltransferase from Leishmania mexicana, an efficient biocatalyst for one-pot, one-step synthesis of nucleosides from poorly soluble purine bases.
Appl Microbiol Biotechnol. 2017; 101(19):7187-7200
Doi: 10.1007/s00253-017-8450-y
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de Lucio, H; Gamo, AM; Ruiz-Santaquiteria, M; de Castro, S; Sánchez-Murcia, PA; Toro, MA; Gutiérrez, KJ; Gago, F; Jiménez-Ruiz, A; Camarasa, MJ; Velázquez, S
Improved proteolytic stability and potent activity against Leishmania infantum trypanothione reductase of α/β-peptide foldamers conjugated to cell-penetrating peptides.
Eur J Med Chem. 2017; 140(3):615-623
Doi: 10.1016/j.ejmech.2017.09.032
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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
Doi: 10.1038/ncomms14635
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Freystetter, A; Paar, C; Stekel, H; Berg, J
Armored DNA in recombinant Baculoviruses as controls in molecular genetic assays.
Appl Microbiol Biotechnol. 2017; 101(19):7259-7269
Doi: 10.1007/s00253-017-8436-9
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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
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Sims, R; van der Lee, SJ; Naj, AC; Bellenguez, C; Badarinarayan, N; Jakobsdottir, J; Kunkle, BW; Boland, A; Raybould, R; Bis, JC; Martin, ER; Grenier-Boley, B; Heilmann-Heimbach, S; Chouraki, V; Kuzma, AB; Sleegers, K; Vronskaya, M; Ruiz, A; Graham, RR; Olaso, R; Hoffmann, P; Grove, ML; Vardarajan, BN; Hiltunen, M; Nöthen, MM; White, CC; Hamilton-Nelson, KL; Epelbaum, J; Maier, W; Choi, SH; Beecham, GW; Dulary, C; Herms, S; Smith, AV; Funk, CC; Derbois, C; Forstner, AJ; Ahmad, S; Li, H; Bacq, D; Harold, D; Satizabal, CL; Valladares, O; Squassina, A; Thomas, R; Brody, JA; Qu, L; Sánchez-Juan, P; Morgan, T; Wolters, FJ; Zhao, Y; Garcia, FS; Denning, N; Fornage, M; Malamon, J; Naranjo, MCD; Majounie, E; Mosley, TH; Dombroski, B; Wallon, D; Lupton, MK; Dupuis, J; Whitehead, P; Fratiglioni, L; Medway, C; Jian, X; Mukherjee, S; Keller, L; Brown, K; Lin, H; Cantwell, LB; Panza, F; McGuinness, B; Moreno-Grau, S; Burgess, JD; Solfrizzi, V; Proitsi, P; Adams, HH; Allen, M; Seripa, D; Pastor, P; Cupples, LA; Price, ND; Hannequin, D; Frank-García, A; Levy, D; Chakrabarty, P; Caffarra, P; Giegling, I; Beiser, AS; Giedraitis, V; Hampel, H; Garcia, ME; Wang, X; Lannfelt, L; Mecocci, P; Eiriksdottir, G; Crane, PK; Pasquier, F; Boccardi, V; Henández, I; Barber, RC; Scherer, M; Tarraga, L; Adams, PM; Leber, M; Chen, Y; Albert, MS; Riedel-Heller, S; Emilsson, V; Beekly, D; Braae, A; Schmidt, R; Blacker, D; Masullo, C; Schmidt, H; Doody, RS; Spalletta, G; Longstreth, WT; Fairchild, TJ; Bossù, P; Lopez, OL; Frosch, MP; Sacchinelli, E; Ghetti, B; Yang, Q; Huebinger, RM; Jessen, F; Li, S; Kamboh, MI; Morris, J; Sotolongo-Grau, O; Katz, MJ; Corcoran, C; Dunstan, M; Braddel, A; Thomas, C; Meggy, A; Marshall, R; Gerrish, A; Chapman, J; Aguilar, M; Taylor, S; Hill, M; Fairén, MD; Hodges, A; Vellas, B; Soininen, H; Kloszewska, I; Daniilidou, M; Uphill, J; Patel, Y; Hughes, JT; Lord, J; Turton, J; Hartmann, AM; Cecchetti, R; Fenoglio, C; Serpente, M; Arcaro, M; Caltagirone, C; Orfei, MD; Ciaramella, A; Pichler, S; Mayhaus, M; Gu, W; Lleó, A; Fortea, J; Blesa, R; Barber, IS; Brookes, K; Cupidi, C; Maletta, RG; Carrell, D; Sorbi, S; Moebus, S; Urbano, M; Pilotto, A; Kornhuber, J; Bosco, P; Todd, S; Craig, D; Johnston, J; Gill, M; Lawlor, B; Lynch, A; Fox, NC; Hardy, J; ARUK Consortium; Albin, RL; Apostolova, LG; Arnold, SE; Asthana, S; Atwood, CS; Baldwin, CT; Barnes, LL; Barral, S; Beach, TG; Becker, JT; Bigio, EH; Bird, TD; Boeve, BF; Bowen, JD; Boxer, A; Burke, JR; Burns, JM; Buxbaum, JD; Cairns, NJ; Cao, C; Carlson, CS; Carlsson, CM; Carney, RM; Carrasquillo, MM; Carroll, SL; Diaz, CC; Chui, HC; Clark, DG; Cribbs, DH; Crocco, EA; DeCarli, C; Dick, M; Duara, R; Evans, DA; Faber, KM; Fallon, KB; Fardo, DW; Farlow, MR; Ferris, S; Foroud, TM; Galasko, DR; Gearing, M; Geschwind, DH; Gilbert, JR; Graff-Radford, NR; Green, RC; Growdon, JH; Hamilton, RL; Harrell, LE; Honig, LS; Huentelman, MJ; Hulette, CM; Hyman, BT; Jarvik, GP; Abner, E; Jin, LW; Jun, G; Karydas, A; Kaye, JA; Kim, R; Kowall, NW; Kramer, JH; LaFerla, FM; Lah, JJ; Leverenz, JB; Levey, AI; Li, G; Lieberman, AP; Lunetta, KL; Lyketsos, CG; Marson, DC; Martiniuk, F; Mash, DC; Masliah, E; McCormick, WC; McCurry, SM; McDavid, AN; McKee, AC; Mesulam, M; Miller, BL; Miller, CA; Miller, JW; Morris, JC; Murrell, JR; Myers, AJ; O'Bryant, S; Olichney, JM; Pankratz, VS; Parisi, JE; Paulson, HL; Perry, W; Peskind, E; Pierce, A; Poon, WW; Potter, H; Quinn, JF; Raj, A; Raskind, M; Reisberg, B; Reitz, C; Ringman, JM; Robe ...
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Nat Genet. 2017; 49(9):1373-1384
Doi: 10.1038/ng.3916
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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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Biundo, A; Hromic, A; Pavkov-Keller, T; Gruber, K; Quartinello, F; Haernvall, K; Perz, V; Arrell, MS; Zinn, M; Ribitsch, D; Guebitz, GM
Characterization of a poly(butylene adipate-co-terephthalate)- hydrolyzing lipase from Pelosinus fermentans.
Appl Microbiol Biotechnol. 2016; 100(4): 1753-1764.
Doi: 10.1007/s00253-015-7031-1
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Degendorfer, G; Chuang, CY; Kawasaki, H; Hammer, A; Malle, E; Yamakura, F; Davies, MJ
Peroxynitrite-mediated oxidation of plasma fibronectin.
Free Radic Biol Med. 2016; 97(3):602-615
Doi: 10.1016/j.freeradbiomed.2016.06.013
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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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Genes, CM; de Lucio, H; Sánchez-Murcia, PA; Gago, F; Jiménez-Ruiz, A
Pro-death activity of a BH3 domain in an aquaporin from the protozoan parasite Leishmania.
Cell Death Dis. 2016; 7(7):e2318-e2318
Doi: 10.1038/cddis.2016.229
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Grün, NG; Zeyda, K; Moreno-Viedma, V; Strohmeier, K; Staffler, G; Zeyda, M; Stulnig, TM
A humanized osteopontin mouse model and its application in immunometabolic obesity studies.
Transl Res. 2016; 178(10):63-73
Doi: 10.1016/j.trsl.2016.07.009
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Janowski, R; Scanu, S; Niessing, D; Madl, T
Crystal and solution structural studies of mouse phospholipid hydroperoxide glutathione peroxidase 4.
Acta Crystallogr F Struct Biol Commun. 2016; 72(Pt 10):743-749
Doi: 10.1107/S2053230X16013686
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Khan, MA; Mohan, S; Zubair, M; Windpassinger, C
Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.
BMC Med Genet. 2016; 17(6): 10-10.
Doi: 10.1186/s12881-016-0271-9
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Polin, H; Pelc-Klopotowska, M; Danzer, M; Suessner, S; Gabriel, C; Wilflingseder, J; Żmudzin, A; Orzińska, A; Guz, K; Michalewska, B; Brojer, E
Compound heterozygosity of two novel RHAG alleles leads to a considerable disruption of the Rh complex.
Transfusion. 2016; 56(4):950-955
Doi: 10.1111/trf.13476
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Redrejo-Rodríguez, M; Vigouroux, A; Mursalimov, A; Grin, I; Alili, D; Koshenov, Z; Akishev, Z; Maksimenko, A; Bissenbaev, AK; Matkarimov, BT; Saparbaev, M; Ishchenko, AA; Moréra, S
Structural comparison of AP endonucleases from the exonuclease III family reveals new amino acid residues in human AP endonuclease 1 that are involved in incision of damaged DNA.
Biochimie. 2016; 128-129:20-33
Doi: 10.1016/j.biochi.2016.06.011
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Sadovnick, AD; Traboulsee, AL; Bernales, CQ; Ross, JP; Forwell, AL; Yee, IM; Guillot-Noel, L; Fontaine, B; Cournu-Rebeix, I; Alcina, A; Fedetz, M; Izquierdo, G; Matesanz, F; Hilven, K; Dubois, B; Goris, A; Astobiza, I; Alloza, I; Antigüedad, A; Vandenbroeck, K; Akkad, DA; Aktas, O; Blaschke, P; Buttmann, M; Chan, A; Epplen, JT; Gerdes, LA; Kroner, A; Kubisch, C; Kümpfel, T; Lohse, P; Rieckmann, P; Zettl, UK; Zipp, F; Bertram, L; Lill, CM; Fernandez, O; Urbaneja, P; Leyva, L; Alvarez-Cermeño, JC; Arroyo, R; Garagorri, AM; García-Martínez, A; Villar, LM; Urcelay, E; Malhotra, S; Montalban, X; Comabella, M; Berger, T; Fazekas, F; Reindl, M; Schmied, MC; Zimprich, A; Vilariño-Güell, C
Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.
G3 (Bethesda). 2016; 6(7):2073-2079
Doi: 10.1534/g3.116.030841
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Schittmayer, M; Fritz, K; Liesinger, L; Griss, J; Birner-Gruenberger, R
Cleaning out the Litterbox of Proteomic Scientists' Favorite Pet: Optimized Data Analysis Avoiding Trypsin Artifacts.
J Proteome Res. 2016; 15(4):1222-1229
Doi: 10.1021/acs.jproteome.5b01105
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Shabbir, MZ; Ali, M; Abbas, M; Chaudhry, UN; Zia-Ur-Rehman, UN; Munir, M
Molecular characterization of infectious bursal disease viruses from Pakistan.
Arch Virol. 2016; 161(7):2001-2006
Doi: 10.1007/s00705-016-2869-9
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Werten, S; Kohler, C; Bayer, NJ; Steinmetz, I; Hinrichs, W
Structural analysis and knock-out of a Burkholderia pseudomallei homolog of the eukaryotic transcription coactivator PC4.
Gene. 2016; 577(2): 140-147.
Doi: 10.1016/j.gene.2015.11.037
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2015
Benavente, R; Esteban-Torres, M; Kohring, GW; Cortés-Cabrera, Á; Sánchez-Murcia, PA; Gago, F; Acebrón, I; de las Rivas, B; Muñoz, R; Mancheño, JM
Enantioselective oxidation of galactitol 1-phosphate by galactitol-1-phosphate 5-dehydrogenase from Escherichia coli.
Acta Crystallogr D Biol Crystallogr. 2015; 71(Pt 7):1540-1554
Doi: 10.1107/S1399004715009281
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Boeszoermenyi, A; Nagy, HM; Arthanari, H; Pillip, CJ; Lindermuth, H; Luna, RE; Wagner, G; Zechner, R; Zangger, K; Oberer, M
Structure of a CGI-58 motif provides the molecular basis of lipid droplet anchoring.
J Biol Chem. 2015; 290(44):26361-26372
Doi: 10.1074/jbc.M115.682203
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Haslbeck, V; Eckl, JM; Drazic, A; Rutz, DA; Lorenz, OR; Zimmermann, K; Kriehuber, T; Lindemann, C; Madl, T; Richter, K
The activity of protein phosphatase 5 towards native clients is modulated by the middle- and C-terminal domains of Hsp90.
Sci Rep. 2015; 5(4):17058-17058
Doi: 10.1038/srep17058
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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
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Hocking, HG; Häse, F; Madl, T; Zacharias, M; Rief, M; Žoldák, G
A compact native 24-residue supersecondary structure derived from the villin headpiece subdomain.
Biophys J. 2015; 108(3):678-686
Doi: 10.1016/j.bpj.2014.11.3482
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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
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Marino, J; Bordag, N; Keller, S; Zerbe, O
Mistic's membrane association and its assistance in overexpression of a human GPCR are independent processes.
Protein Sci. 2015; 24(1): 38-48.
Doi: 10.1002/pro.2582
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Meyer, NH; Mayerhofer, H; Tripsianes, K; Blindow, S; Barths, D; Mewes, A; Weimar, T; Köhli, T; Bade, S; Madl, T; Frey, A; Haas, H; Mueller-Dieckmann, J; Sattler, M; Schramm, G
A Crystallin Fold in the Interleukin-4-inducing Principle of Schistosoma mansoni Eggs (IPSE/α-1) Mediates IgE Binding for Antigen-independent Basophil Activation.
J Biol Chem. 2015; 290(36): 22111-22126.
Doi: 10.1074/jbc.M115.675066
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Riedl, S; Leber, R; Rinner, B; Schaider, H; Lohner, K; Zweytick, D
Human lactoferricin derived di-peptides deploying loop structures induce apoptosis specifically in cancer cells through targeting membranous phosphatidylserine.
Biochim Biophys Acta. 2015; 1848(11 Pt A):2918-2931
Doi: 10.1016/j.bbamem.2015.07.018
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Sahu-Osen, A; Montero-Moran, G; Schittmayer, M; Fritz, K; Dinh, A; Chang, YF; McMahon, D; Boeszoermenyi, A; Cornaciu, I; Russell, D; Oberer, M; Carman, GM; Birner-Gruenberger, R; Brasaemle, DL
CGI-58/ABHD5 is phosphorylated on Ser239 by protein kinase A: control of subcellular localization.
J Lipid Res. 2015; 56(1):109-121
Doi: 10.1194/jlr.M055004
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Tchoupa, AK; Lichtenegger, S; Reidl, J; Hauck, CR
Outer membrane protein P1 is the CEACAM-binding adhesin of Haemophilus influenzae.
Mol Microbiol. 2015; 98(3):440-455
Doi: 10.1111/mmi.13134
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Weinberger, J; Jimenez-Heredia, R; Schaller, S; Suessner, S; Sunzenauer, J; Reindl-Schwaighofer, R; Weiss, R; Winkler, S; Gabriel, C; Danzer, M; Oberbauer, R
Immune Repertoire Profiling Reveals that Clonally Expanded B and T Cells Infiltrating Diseased Human Kidneys Can Also Be Tracked in Blood.
PLoS One. 2015; 10(11):e0143125-e0143125
Doi: 10.1371/journal.pone.0143125
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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
Burgstaller, JP; Johnston, IG; Jones, NS; Albrechtová, J; Kolbe, T; Vogl, C; Futschik, A; Mayrhofer, C; Klein, D; Sabitzer, S; Blattner, M; Gülly, C; Poulton, J; Rülicke, T; Piálek, J; Steinborn, R; Brem, G
MtDNA segregation in heteroplasmic tissues is common in vivo and modulated by haplotype differences and developmental stage.
Cell Rep. 2014; 7(6):2031-2041
Doi: 10.1016/j.celrep.2014.05.020
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Delporte, C; Boudjeltia, KZ; Noyon, C; Furtmüller, PG; Nuyens, V; Slomianny, MC; Madhoun, P; Desmet, JM; Raynal, P; Dufour, D; Koyani, CN; Reyé, F; Rousseau, A; Vanhaeverbeek, M; Ducobu, J; Michalski, JC; Nève, J; Vanhamme, L; Obinger, C; Malle, E; Van Antwerpen, P
Impact of myeloperoxidase-LDL interactions on enzyme activity and subsequent posttranslational oxidative modifications of apoB-100.
J Lipid Res. 2014; 55(4):747-757
Doi: 10.1194/jlr.M047449
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Etemad, S; Obermair, GJ; Bindreither, D; Benedetti, A; Stanika, R; Di Biase, V; Burtscher, V; Koschak, A; Kofler, R; Geley, S; Wille, A; Lusser, A; Flockerzi, V; Flucher, BE
Differential neuronal targeting of a new and two known calcium channel β4 subunit splice variants correlates with their regulation of gene expression.
J Neurosci. 2014; 34(4):1446-1461
Doi: 10.1523/JNEUROSCI.3935-13.2014
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Karagöz, GE; Duarte, AM; Akoury, E; Ippel, H; Biernat, J; Morán Luengo, T; Radli, M; Didenko, T; Nordhues, BA; Veprintsev, DB; Dickey, CA; Mandelkow, E; Zweckstetter, M; Boelens, R; Madl, T; Rüdiger, SG
Hsp90-Tau complex reveals molecular basis for specificity in chaperone action.
Cell. 2014; 156(5): 963-974.
Doi: 10.1016/j.cell.2014.01.037
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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.
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Lichtenegger, M; Groschner, K
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Polin, H; Danzer, M; Reiter, A; Brisner, M; Gaszner, W; Weinberger, J; Gabriel, C
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Rupp, V; Rauf, S; Naveed, I; Windpassinger, C; Mir, A
A novel single base pair duplication in WDR62 causes primary microcephaly.
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Sammar, M; Nisamblatt, S; Gonen, R; Huppertz, B; Gizurarson, S; Osol, G; Meiri, H
The role of the carbohydrate recognition domain of placental protein 13 (PP13) in pregnancy evaluated with recombinant PP13 and the DelT221 PP13 variant.
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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.
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Behjati, S; Tarpey, PS; Presneau, N; Scheipl, S; Pillay, N; Van Loo, P; Wedge, DC; Cooke, SL; Gundem, G; Davies, H; Nik-Zainal, S; Martin, S; McLaren, S; Goody, V; Goodie, V; Robinson, B; Butler, A; Teague, JW; Halai, D; Khatri, B; Myklebost, O; Baumhoer, D; Jundt, G; Hamoudi, R; Tirabosco, R; Amary, MF; Futreal, PA; Stratton, MR; Campbell, PJ; Flanagan, AM
Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone.
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Bublin, M; Kostadinova, M; Radauer, C; Hafner, C; Szépfalusi, Z; Varga, EM; Maleki, SJ; Hoffmann-Sommergruber, K; Breiteneder, H
IgE cross-reactivity between the major peanut allergen Ara h 2 and the nonhomologous allergens Ara h 1 and Ara h 3.
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Derler, I; Plenk, P; Fahrner, M; Muik, M; Jardin, I; Schindl, R; Gruber, HJ; Groschner, K; Romanin, C
The extended transmembrane Orai1 N-terminal (ETON) region combines binding interface and gate for Orai1 activation by STIM1.
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