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

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Publikationen

Suchbegriffe: CARRIER PROTEINS - GENETICS , . Treffer: 85

2018

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. [OPEN ACCESS]
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O'Byrne, JJ; Tarailo-Graovac, M; Ghani, A; Champion, M; Deshpande, C; Dursun, A; Ozgul, RK; Freisinger, P; Garber, I; Haack, TB; Horvath, R; Barić, I; Husain, RA; Kluijtmans, LAJ; Kotzaeridou, U; Morris, AA; Ross, CJ; Santra, S; Smeitink, J; Tarnopolsky, M; Wortmann, SB; Mayr, JA; Brunner-Krainz, M; Prokisch, H; Wasserman, WW; Wevers, RA; Engelke, UF; Rodenburg, RJ; Ting, TW; McFarland, R; Taylor, RW; Salvarinova, R; van Karnebeek, CDM The genotypic and phenotypic spectrum of MTO1 deficiency.
Mol Genet Metab. 2018; 123(1):28-42 (- Case Report) [OPEN ACCESS]
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2017

Byrgazov, K; Kastner, R; Gorna, M; Hoermann, G; Koenig, M; Lucini, CB; Ulreich, R; Benesch, M; Strenger, V; Lackner, H; Schwinger, W; Sovinz, P; Haas, OA; van den Heuvel-Eibrink, M; Niemeyer, CM; Hantschel, O; Valent, P; Superti-Furga, G; Urban, C; Dworzak, MN; Lion, T NDEL1-PDGFRB fusion gene in a myeloid malignancy with eosinophilia associated with resistance to tyrosine kinase inhibitors.
Leukemia. 2017; 31(1):237-240 [OPEN ACCESS]
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Feichtinger, RG; Brunner-Krainz, M; Alhaddad, B; Wortmann, SB; Kovacs-Nagy, R; Stojakovic, T; Erwa, W; Resch, B; Windischhofer, W; Verheyen, S; Uhrig, S; Windpassinger, C; Locker, F; Makowski, C; Strom, TM; Meitinger, T; Prokisch, H; Sperl, W; Haack, TB; Mayr, JA Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
Oxid Med Cell Longev. 2017; 2017(3-4):7202589-7202589 [OPEN ACCESS]
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Geuens, T; De Winter, V; Rajan, N; Achsel, T; Mateiu, L; Almeida-Souza, L; Asselbergh, B; Bouhy, D; Auer-Grumbach, M; Bagni, C; Timmerman, V Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.
Acta Neuropathol Commun. 2017; 5(1):5-5 [OPEN ACCESS]
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Toib, A; Zhang, C; Borghetti, G; Zhang, X; Wallner, M; Yang, Y; Troupes, CD; Kubo, H; Sharp, TE; Feldsott, E; Berretta, RM; Zalavadia, N; Trappanese, DM; Harper, S; Gross, P; Chen, X; Mohsin, S; Houser, SR Remodeling of repolarization and arrhythmia susceptibility in a myosin-binding protein C knockout mouse model.
Am J Physiol Heart Circ Physiol. 2017; 313(3):H620-H630 [OPEN ACCESS]
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2016

Gomez-Escobar, N; Almobadel, N; Alzahrani, O; Feichtinger, J; Planells-Palop, V; Alshehri, Z; Thallinger, GG; Wakeman, JA; McFarlane, RJ Translin and Trax differentially regulate telomere-associated transcript homeostasis.
Oncotarget. 2016; 7(23): 33809-33820. [OPEN ACCESS]
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2015

Schwamb, B; Pick, R; Fernández, SB; Völp, K; Heering, J; Dötsch, V; Bösser, S; Jung, J; Beinoraviciute-Kellner, R; Wesely, J; Zörnig, I; Hammerschmidt, M; Nowak, M; Penzel, R; Zatloukal, K; Joos, S; Rieker, RJ; Agaimy, A; Söder, S; Reid-Lombardo, KM; Kendrick, ML; Bardsley, MR; Hayashi, Y; Asuzu, DT; Syed, SA; Ordog, T; Zörnig, M FAM96A is a novel pro-apoptotic tumor suppressor in gastrointestinal stromal tumors.
Int J Cancer. 2015; 137(6):1318-1329 [OPEN ACCESS]
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2014

Escott-Price, V; Bellenguez, C; Wang, LS; Choi, SH; Harold, D; Jones, L; Holmans, P; Gerrish, A; Vedernikov, A; Richards, A; DeStefano, AL; Lambert, JC; Ibrahim-Verbaas, CA; Naj, AC; Sims, R; Jun, G; Bis, JC; Beecham, GW; Grenier-Boley, B; Russo, G; Thornton-Wells, TA; Denning, N; Smith, AV; Chouraki, V; Thomas, C; Ikram, MA; Zelenika, D; Vardarajan, BN; Kamatani, Y; Lin, CF; Schmidt, H; Kunkle, B; Dunstan, ML; Vronskaya, M; United Kingdom Brain Expression Consortium; Johnson, AD; Ruiz, A; Bihoreau, MT; Reitz, C; Pasquier, F; Hollingworth, P; Hanon, O; Fitzpatrick, AL; Buxbaum, JD; Campion, D; Crane, PK; Baldwin, C; Becker, T; Gudnason, V; Cruchaga, C; Craig, D; Amin, N; Berr, C; Lopez, OL; De Jager, PL; Deramecourt, V; Johnston, JA; Evans, D; Lovestone, S; Letenneur, L; Hernández, I; Rubinsztein, DC; Eiriksdottir, G; Sleegers, K; Goate, AM; Fiévet, N; Huentelman, MJ; Gill, M; Brown, K; Kamboh, MI; Keller, L; Barberger-Gateau, P; McGuinness, B; Larson, EB; Myers, AJ; Dufouil, C; Todd, S; Wallon, D; Love, S; Rogaeva, E; Gallacher, J; George-Hyslop, PS; Clarimon, J; Lleo, A; Bayer, A; Tsuang, DW; Yu, L; Tsolaki, M; Bossù, P; Spalletta, G; Proitsi, P; Collinge, J; Sorbi, S; Garcia, FS; Fox, NC; Hardy, J; Naranjo, MC; Bosco, P; Clarke, R; Brayne, C; Galimberti, D; Scarpini, E; Bonuccelli, U; Mancuso, M; Siciliano, G; Moebus, S; Mecocci, P; Zompo, MD; Maier, W; Hampel, H; Pilotto, A; Frank-García, A; Panza, F; Solfrizzi, V; Caffarra, P; Nacmias, B; Perry, W; Mayhaus, M; Lannfelt, L; Hakonarson, H; Pichler, S; Carrasquillo, MM; Ingelsson, M; Beekly, D; Alvarez, V; Zou, F; Valladares, O; Younkin, SG; Coto, E; Hamilton-Nelson, KL; Gu, W; Razquin, C; Pastor, P; Mateo, I; Owen, MJ; Faber, KM; Jonsson, PV; Combarros, O; O'Donovan, MC; Cantwell, LB; Soininen, H; Blacker, D; Mead, S; Mosley, TH; Bennett, DA; Harris, TB; Fratiglioni, L; Holmes, C; de Bruijn, RF; Passmore, P; Montine, TJ; Bettens, K; Rotter, JI; Brice, A; Morgan, K; Foroud, TM; Kukull, WA; Hannequin, D; Powell, JF; Nalls, MA; Ritchie, K; Lunetta, KL; Kauwe, JS; Boerwinkle, E; Riemenschneider, M; Boada, M; Hiltunen, M; Martin, ER; Schmidt, R; Rujescu, D; Dartigues, JF; Mayeux, R; Tzourio, C; Hofman, A; Nöthen, MM; Graff, C; Psaty, BM; Haines, JL; Lathrop, M; Pericak-Vance, MA; Launer, LJ; Van Broeckhoven, C; Farrer, LA; van Duijn, CM; Ramirez, A; Seshadri, S; Schellenberg, GD; Amouyel, P; Williams, J; Cardiovascular Health Study (CHS) Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.
PLoS One. 2014; 9(6):e94661-e94661 [OPEN ACCESS]
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Jahnel, J; Fickert, P; Hauer, AC; Högenauer, C; Avian, A; Trauner, M Inflammatory bowel disease alters intestinal bile acid transporter expression.
Drug Metab Dispos. 2014; 42(9):1423-1431 [OPEN ACCESS]
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Kennedy, BE; Madreiter, CT; Vishnu, N; Malli, R; Graier, WF; Karten, B Adaptations of energy metabolism associated with increased levels of mitochondrial cholesterol in Niemann-Pick type C1-deficient cells.
J Biol Chem. 2014; 289(23):16278-16289 [OPEN ACCESS]
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2013

Fogeron, ML; Muller, H; Schade, S; Dreher, F; Lehmann, V; Kuhnel, A; Scholz, AK; Kashofer, K; Zerck, A; Fauler, B; Lurz, R; Herwig, R; Zatloukal, K; Lehrach, H; Gobom, J; Nordhoff, E; Lange, BMH; LGALS3BP regulates centriole biogenesis and centrosome hypertrophy in cancer cells.
NAT COMMUN. 2013; 4(2): 1531-1531. [OPEN ACCESS]
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Huber, MD; Vesely, PW; Datta, K; Gerace, L Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis.
J Cell Biol. 2013; 203(3):427-436 [OPEN ACCESS]
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Lionel, AC; Vaags, AK; Sato, D; Gazzellone, MJ; Mitchell, EB; Chen, HY; Costain, G; Walker, S; Egger, G; Thiruvahindrapuram, B; Merico, D; Prasad, A; Anagnostou, E; Fombonne, E; Zwaigenbaum, L; Roberts, W; Szatmari, P; Fernandez, BA; Georgieva, L; Brzustowicz, LM; Roetzer, K; Kaschnitz, W; Vincent, JB; Windpassinger, C; Marshall, CR; Trifiletti, RR; Kirmani, S; Kirov, G; Petek, E; Hodge, JC; Bassett, AS; Scherer, SW Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Hum Mol Genet. 2013; 22(10):2055-2066 [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 [OPEN ACCESS]
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2012

Bernhardt, GA; Zollner, G; Cerwenka, H; Kornprat, P; Fickert, P; Bacher, H; Werkgartner, G; Müller, G; Zatloukal, K; Mischinger, HJ; Trauner, M Hepatobiliary transporter expression and post-operative jaundice in patients undergoing partial hepatectomy.
Liver Int. 2012; 32(1):119-127
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Neumann, O; Kesselmeier, M; Geffers, R; Pellegrino, R; Radlwimmer, B; Hoffmann, K; Ehemann, V; Schemmer, P; Schirmacher, P; Lorenzo Bermejo, J; Longerich, T Methylome analysis and integrative profiling of human HCCs identify novel protumorigenic factors.
Hepatology. 2012; 56(5):1817-1827
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2010

Gauster, M; Siwetz, M; Orendi, K; Moser, G; Desoye, G; Huppertz, B Caspases rather than calpains mediate remodelling of the fodrin skeleton during human placental trophoblast fusion.
Cell Death Differ. 2010; 17(2): 336-345. [OPEN ACCESS]
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Helbing, T; Rothweiler, R; Heinke, J; Goetz, L; Diehl, P; Zirlik, A; Patterson, C; Bode, C; Moser, M BMPER is upregulated by statins and modulates endothelial inflammation by intercellular adhesion molecule-1.
ARTERIOSCL THROM VAS. 2010; 30(3): 554-560. [OPEN ACCESS]
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Soehn, AS; Franck, T; Biskup, S; Giaime, E; Melle, C; Rott, R; Cebo, D; Kalbacher, H; Ott, E; Pahnke, J; Meitinger, T; Krüger, R; Gasser, T; Berg, D; von Eggeling, F; Engelender, S; da Costa, CA; Riess, O Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease.
Neurogenetics. 2010; 11(2):203-215
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2009

Arapovic, J; Lenac Rovis, T; Reddy, AB; Krmpotic, A; Jonjic, S Promiscuity of MCMV immunoevasin of NKG2D: m138/fcr-1 down-modulates RAE-1epsilon in addition to MULT-1 and H60.
Mol Immunol. 2009; 47(1): 114-122.
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Goizet, C; Boukhris, A; Maltete, D; Guyant-Maréchal, L; Truchetto, J; Mundwiller, E; Hanein, S; Jonveaux, P; Roelens, F; Loureiro, J; Godet, E; Forlani, S; Melki, J; Auer-Grumbach, M; Fernandez, JC; Martin-Hardy, P; Sibon, I; Sole, G; Orignac, I; Mhiri, C; Coutinho, P; Durr, A; Brice, A; Stevanin, G SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.
Neurology. 2009; 73(14): 1111-1119.
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Jahnel, J; Fickert, P; Langner, C; Högenauer, C; Silbert, D; Gumhold, J; Fuchsbichler, A; Trauner, M Impact of experimental colitis on hepatobiliary transporter expression and bile duct injury in mice.
Liver Int. 2009; 29(9):1316-1325
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Rotthier, A; Baets, J; De Vriendt, E; Jacobs, A; Auer-Grumbach, M; Lévy, N; Bonello-Palot, N; Kilic, SS; Weis, J; Nascimento, A; Swinkels, M; Kruyt, MC; Jordanova, A; De Jonghe, P; Timmerman, V Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Brain. 2009; 132(Pt 10): 2699-2711. [OPEN ACCESS]
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2008

Hochrainer, K; Kroismayr, R; Baranyi, U; Binder, BR; Lipp, J Highly homologous HERC proteins localize to endosomes and exhibit specific interactions with hPLIC and Nm23B.
Cell Mol Life Sci. 2008; 65(13):2105-2117
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Schgoer, W; Eller, P; Mueller, T; Tancevski, I; Wehinger, A; Ulmer, H; Sandhofer, A; Ritsch, A; Haltmayer, M; Patsch, JR The MTP -493TT genotype is associated with peripheral arterial disease: results from the Linz Peripheral Arterial Disease (LIPAD) Study.
Clin Biochem. 2008; 41(9):712-716
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2007

Büttner, S; Eisenberg, T; Carmona-Gutierrez, D; Ruli, D; Knauer, H; Ruckenstuhl, C; Sigrist, C; Wissing, S; Kollroser, M; Fröhlich, KU; Sigrist, S; Madeo, F Endonuclease G regulates budding yeast life and death.
Mol Cell. 2007; 25(2):233-246 [OPEN ACCESS]
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Dhandapany, PS; Sadayappan, S; Vanniarajan, A; Karthikeyan, B; Nagaraj, C; Gowrishankar, K; Selvam, GS; Singh, L; Thangaraj, K Novel mitochondrial DNA mutations implicated in Noonan syndrome.
Int J Cardiol. 2007; 120(2): 284-285. (- Case Report)
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2006

Auer-Grumbach, M; Mauko, B; Auer-Grumbach, P; Pieber, TR Molecular genetics of hereditary sensory neuropathies.
NEUROMOL MED. 2006; 8(1-2): 147-158.
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Brücher, BL; Geddert, H; Langner, C; Höfler, H; Fink, U; Siewert, JR; Sarbia, M Hypermethylation of hMLH1, HPP1, p14(ARF), p16(INK4A) and APC in primary adenocarcinomas of the small bowel.
Int J Cancer. 2006; 119(6): 1298-1302. [OPEN ACCESS]
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Kure, S; Kato, K; Dinopoulos, A; Gail, C; DeGrauw, TJ; Christodoulou, J; Bzduch, V; Kalmanchey, R; Fekete, G; Trojovsky, A; Plecko, B; Breningstall, G; Tohyama, J; Aoki, Y; Matsubara, Y Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
Hum Mutat. 2006; 27(4):343-352
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2005

Quehenberger, F; Vasen, HF; van Houwelingen, HC Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment.
J Med Genet. 2005; 42(6):491-496 [OPEN ACCESS]
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2004

Guthmann, F; Schachtrup, C; Tölle, A; Wissel, H; Binas, B; Kondo, H; Owada, Y; Spener, F; Rüstow, B Phenotype of palmitic acid transport and of signalling in alveolar type II cells from E/H-FABP double-knockout mice: contribution of caveolin-1 and PPARgamma.
Biochim Biophys Acta. 2004; 1636(2-3):196-204
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Haunerland, NH; Spener, F Fatty acid-binding proteins--insights from genetic manipulations.
Prog Lipid Res. 2004; 43(4):328-349
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Puskás, LG; Bereczki, E; Sántha, M; Vigh, L; Csanádi, G; Spener, F; Ferdinandy, P; Onochy, A; Kitajka, K Cholesterol and cholesterol plus DHA diet-induced gene expression and fatty acid changes in mouse eye and brain.
Biochimie. 2004; 86(11):817-824
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Raghunath, M; Tontsidou, L; Oji, V; Aufenvenne, K; Schürmeyer-Horst, F; Jayakumar, A; Ständer, H; Smolle, J; Clayman, GL; Traupe, H SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases.
J Invest Dermatol. 2004; 123(3):474-483 [OPEN ACCESS]
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Renner, W; Pressl, H; Wascher, TC; Paulweber, B; Malaimare, L; Iglseder, B The role of the A54T polymorphism of the intestinal fatty acid binding protein for lipid levels, insulin sensitivity and carotid atherosclerosis.
Atherosclerosis. 2004; 173(1):137-139
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Schachtrup, C; Emmler, T; Bleck, B; Sandqvist, A; Spener, F Functional analysis of peroxisome-proliferator-responsive element motifs in genes of fatty acid-binding proteins.
Biochem J. 2004; 382(Pt 1):239-245 [OPEN ACCESS]
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2003

Arrese, M; Trauner, M; Ananthanarayanan, M; Pizarro, M; Solís, N; Accatino, L; Soroka, C; Boyer, JL; Karpen, SJ; Miquel, JF; Suchy, FJ Down-regulation of the Na+/taurocholate cotransporting polypeptide during pregnancy in the rat.
J Hepatol. 2003; 38(2):148-155
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Grau, V; Garn, H; Bette, M; Spener, F; Steiniger, B; Gemsa, D; Stehling, O Induction of epidermal fatty acid binding protein in intravascular monocytes of renal allografts.
Transplantation. 2003; 75(5):685-688
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Winkelmann, BR; Hoffmann, MM; Nauck, M; Kumar, AM; Nandabalan, K; Judson, RS; Boehm, BO; Tall, AR; Ruaño, G; März, W Haplotypes of the cholesteryl ester transfer protein gene predict lipid-modifying response to statin therapy.
PHARMACOGENOMICS J. 2003; 3(5): 284-296. [OPEN ACCESS]
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Zollner, G; Fickert, P; Silbert, D; Fuchsbichler, A; Marschall, HU; Zatloukal, K; Denk, H; Trauner, M Adaptive changes in hepatobiliary transporter expression in primary biliary cirrhosis.
J Hepatol. 2003; 38(6):717-727
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2002

Behrends, U; Jandl, T; Golbeck, A; Lechner, B; Muller-Weihrich, S; Schmid, I; Till, H; Berthold, F; Voltz, R; Mautner, JM Novel products of the HUD, HUC, NNP-1 and alpha-internexin genes identified by autologous antibody screening of a pediatric neuroblastoma library
Int J Cancer. 2002; 100(6):669-677
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Gander, R; Eller, P; Kaser, S; Theurl, I; Walter, D; Sauper, T; Ritsch, A; Patsch, JR; Föger, B Molecular characterization of rabbit phospholipid transfer protein: choroid plexus and ependyma synthesize high levels of phospholipid transfer protein.
J Lipid Res. 2002; 43(4):636-645 [OPEN ACCESS]
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Grisold, AJ; Leitner, E; Mühlbauer, G; Marth, E; Kessler, HH Detection of methicillin-resistant Staphylococcus aureus and simultaneous confirmation by automated nucleic acid extraction and real-time PCR.
J Clin Microbiol. 2002; 40(7):2392-2397 [OPEN ACCESS]
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Guthmann, F; Börchers, T; Wolfrum, C; Wustrack, T; Bartholomäus, S; Spener, F Plasma concentration of intestinal- and liver-FABP in neonates suffering from necrotizing enterocolitis and in healthy preterm neonates.
Mol Cell Biochem. 2002; 239(1-2):227-234
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Owada, Y; Suzuki, R; Iwasa, H; Spener, F; Kondo, H Localization of epidermal-type fatty acid binding protein in the thymic epithelial cells of mice.
Histochem Cell Biol. 2002; 117(1):55-60
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Reissinger, A; Ludwig, M; Utsch, B; Prömse, A; Baulmann, J; Weisser, B; Vetter, H; Kramer, HJ; Bokemeyer, D Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.
Kidney Blood Press Res. 2002; 25(6):354-362 (- Case Report)
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Thonhofer, R; Maercker, C; Popper, HH Expression of sarcoidosis related genes in lung lavage cells.
Sarcoidosis Vasc Diffuse Lung Dis. 2002; 19(1):59-65
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Windpassinger, C; Kroisel, PM; Wagner, K; Petek, E Chromosomal localization and genomic organization of the human Linker for Activation of T cells (LAT) gene.
Cytogenet Genome Res. 2002; 97(3-4):155-157
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