Suchergebnisse - "König, Eva"

Characterization of six Merkel cell polyomavirus‐positive Merkel cell carcinoma cell lines: Integration pattern suggest that large T antigen truncating events occur before or during integration von Schrama, David, Sarosi, Eva‐Maria, Adam, Christian, Ritter, Cathrin, Kaemmerer, Ulrike, Klopocki, Eva, König, Eva‐Maria, Utikal, Jochen, Becker, Jürgen C., Houben, Roland

“… Merkel cell carcinoma (MCC), an aggressive neuroendocrine skin tumor, is a polyomavirus‐induced human cancer. To study the causal relationship of MCC …”
Volltext

The blood-brain barrier is dysregulated in COVID-19 and serves as a CNS entry route for SARS-CoV-2 von Krasemann, Susanne, Haferkamp, Undine, Pfefferle, Susanne, Woo, Marcel S., Heinrich, Fabian, Schweizer, Michaela, Appelt-Menzel, Antje, Cubukova, Alevtina, Barenberg, Janica, Leu, Jennifer, Hartmann, Kristin, Thies, Edda, Littau, Jessica Lisa, Sepulveda-Falla, Diego, Zhang, Liang, Ton, Kathy, Liang, Yan, Matschke, Jakob, Ricklefs, Franz, Sauvigny, Thomas, Sperhake, Jan, Fitzek, Antonia, Gerhartl, Anna, Brachner, Andreas, Geiger, Nina, König, Eva-Maria, Bodem, Jochen, Franzenburg, Sören, Franke, Andre, Moese, Stefan, Müller, Franz-Josef, Geisslinger, Gerd, Claussen, Carsten, Kannt, Aimo, Zaliani, Andrea, Gribbon, Philip, Ondruschka, Benjamin, Neuhaus, Winfried, Friese, Manuel A., Glatzel, Markus, Pless, Ole

“… Neurological complications are common in COVID-19. Although SARS-CoV-2 has been detected in patients’ brain tissues, its entry routes and resulting …”
Volltext

Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion von Lekszas, Caroline, Foresti, Ombretta, Raote, Ishier, Liedtke, Daniel, König, Eva-Maria, Nanda, Indrajit, Vona, Barbara, De Coster, Peter, Cauwels, Rita, Malhotra, Vivek, Haaf, Thomas

“… The transport and Golgi organization 1 (TANGO1) proteins play pivotal roles in the secretory pathway. Full length TANGO1 is a transmembrane protein localised …”
Volltext

Systematic mediation and interaction analyses of kidney function genetic loci in a general population study von Ghasemi-Semeskandeh, Dariush, Emmert, David, König, Eva, Foco, Luisa, Gögele, Martin, Sarhan, Mohamed S., Barin, Laura, Fujii, Ryosuke, Fuchsberger, Christian, Peters, Dorien J. M., Pramstaller, Peter P., Pattaro, Cristian

“… Chronic kidney disease (CKD) is a complex disease affecting >10% of the global population, with large between- and within-continent variability reflecting …”
Volltext

Functional analyses of splice site variants in TCF12 von Borst, Angela, Schweitzer, Tilmann, Horn, Denise, Kunstmann, Erdmute, König, Eva-Maria, Pluta, Natalie, Klopocki, Eva

“… Pre-mRNA splicing is a fundamental step in protein synthesis within a cell. Malfunctions during this process can lead to dysfunctional proteins and thus, to a …”
Volltext

Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank von Wuttke, Matthias, König, Eva, Katsara, Maria-Alexandra, Kirsten, Holger, Farahani, Saeed Khomeijani, Teumer, Alexander, Li, Yong, Lang, Martin, Göcmen, Burulca, Pattaro, Cristian, Günzel, Dorothee, Köttgen, Anna, Fuchsberger, Christian

“… Genome-wide association studies have discovered hundreds of associations between common genotypes and kidney function but cannot comprehensively investigate …”
Volltext

Genetic determinants of complement activation in the general population von Noce, Damia, Foco, Luisa, Orth-Höller, Dorothea, König, Eva, Barbieri, Giulia, Pietzner, Maik, Ghasemi-Semeskandeh, Dariush, Coassin, Stefan, Fuchsberger, Christian, Gögele, Martin, Del Greco M., Fabiola, De Grandi, Alessandro, Summerer, Monika, Wheeler, Eleanor, Langenberg, Claudia, Lass-Flörl, Cornelia, Pramstaller, Peter Paul, Kronenberg, Florian, Würzner, Reinhard, Pattaro, Cristian

“… Complement is a fundamental innate immune response component. Its alterations are associated with severe systemic diseases. To illuminate the complement’s …”
Volltext

Cell Type-Specific Anti-Viral Effects of Novel SARS-CoV-2 Main Protease Inhibitors von Geiger, Nina, Diesendorf, Viktoria, Roll, Valeria, König, Eva-Maria, Obernolte, Helena, Sewald, Katherina, Breidenbach, Julian, Pillaiyar, Thanigaimalai, Gütschow, Michael, Müller, Christa E., Bodem, Jochen

“… Recently, we have described novel pyridyl indole esters and peptidomimetics as potent inhibitors of the severe acute respiratory syndrome coronavirus type 2 …”
Volltext

Oxidized LDL‐dependent pathway as new pathogenic trigger in arrhythmogenic cardiomyopathy von Sommariva, Elena, Stadiotti, Ilaria, Casella, Michela, Catto, Valentina, Dello Russo, Antonio, Carbucicchio, Corrado, Arnaboldi, Lorenzo, De Metrio, Simona, Milano, Giuseppina, Scopece, Alessandro, Casaburo, Manuel, Andreini, Daniele, Mushtaq, Saima, Conte, Edoardo, Chiesa, Mattia, Birchmeier, Walter, Cogliati, Elisa, Paolin, Adolfo, König, Eva, Meraviglia, Viviana, De Musso, Monica, Volani, Chiara, Cattelan, Giada, Rauhe, Werner, Turnu, Linda, Porro, Benedetta, Pedrazzini, Matteo, Camera, Marina, Corsini, Alberto, Tondo, Claudio, Rossini, Alessandra, Pompilio, Giulio

“… Arrhythmogenic cardiomyopathy (ACM) is hallmarked by ventricular fibro‐adipogenic alterations, contributing to cardiac dysfunctions and arrhythmias. Although …”
Volltext

Exome-wide association study of levodopa-induced dyskinesia in Parkinson’s disease von König, Eva, Nicoletti, Alessandra, Pattaro, Cristian, Annesi, Grazia, Melotti, Roberto, Gialluisi, Alessandro, Schwienbacher, Christine, Picard, Anne, Blankenburg, Hagen, Pichler, Irene, Modugno, Nicola, Ciullo, Marina, Esposito, Teresa, Domingues, Francisco S., Hicks, Andrew A., Zappia, Mario, Pramstaller, Peter P.

“… Levodopa is the standard long-term dopamine replacement therapy to treat Parkinson’s disease (PD) symptoms. With time, levodopa may induce debilitating …”
Volltext

Recessive grey platelet‐like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B‐p37 von Schulze, Harald, Schlagenhauf, Axel, Manukjan, Georgi, Beham-Schmid, Christine, Andres, Oliver, Klopocki, Eva, König, Eva-Maria, Haidl, Harald, Panzer, Simon, Althaus, Karina, Muntean, Wolfgang E., Schwinger, Wolfgang, Urban, Christian, Greinacher, Andreas, Bakchoul, Tamam, Seidel, Markus G.

Volltext

Clinical and Metabolic Signatures of FAM47E–SHROOM3 Haplotypes in a General Population Sample von Ghasemi-Semeskandeh, Dariush, König, Eva, Foco, Luisa, Dordevic, Nikola, Gögele, Martin, Rainer, Johannes, Ralser, Markus, Acoba, Dianne, Domingues, Francisco S., Peters, Dorien J.M., Pramstaller, Peter P., Pattaro, Cristian

“… Genome-wide association studies (GWAS) identified a locus on chromosome 4q21.1, spanning the Family With Sequence Similarity 47 Member E (FAM47E), Starch …”
Volltext

Acetylsalicylic Acid and Salicylic Acid Inhibit SARS-CoV-2 Replication in Precision-Cut Lung Slices von Geiger, Nina, König, Eva-Maria, Oberwinkler, Heike, Roll, Valeria, Diesendorf, Viktoria, Fähr, Sofie, Obernolte, Helena, Sewald, Katherina, Wronski, Sabine, Steinke, Maria, Bodem, Jochen

“… Aspirin, with its active compound acetylsalicylic acid (ASA), shows antiviral activity against rhino- and influenza viruses at high concentrations. We sought …”
Volltext

A defined anthocyanin mixture sourced from bilberry and black currant inhibits Measles virus and various herpesviruses von Sivarajan, Rinu, Oberwinkler, Heike, Roll, Valeria, König, Eva-Maria, Steinke, Maria, Bodem, Jochen

“… Background Anthocyanin-containing plant extracts and carotenoids, such as astaxanthin, have been well-known for their antiviral and anti-inflammatory activity, …”
Volltext

The Acid Ceramidase Is a SARS-CoV-2 Host Factor von Geiger, Nina, Kersting, Louise, Schlegel, Jan, Stelz, Linda, Fähr, Sofie, Diesendorf, Viktoria, Roll, Valeria, Sostmann, Marie, König, Eva-Maria, Reinhard, Sebastian, Brenner, Daniela, Schneider-Schaulies, Sibylle, Sauer, Markus, Seibel, Jürgen, Bodem, Jochen

“… SARS-CoV-2 variants such as the delta or omicron variants, with higher transmission rates, accelerated the global COVID-19 pandemic. Thus, novel therapeutic …”
Volltext

Selection and Validation of siRNAs Preventing Uptake and Replication of SARS-CoV-2 von Friedrich, Maik, Pfeifer, Gabriele, Binder, Stefanie, Aigner, Achim, Vollmer Barbosa, Philippe, Makert, Gustavo R., Fertey, Jasmin, Ulbert, Sebastian, Bodem, Jochen, König, Eva-Maria, Geiger, Nina, Schambach, Axel, Schilling, Erik, Buschmann, Tilo, Hauschildt, Sunna, Koehl, Ulrike, Sewald, Katherina

“… In 2019, the novel highly infectious severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) outbreak rapidly led to a global pandemic with more than 346 …”
Volltext

Modeling incomplete penetrance in arrhythmogenic cardiomyopathy by human induced pluripotent stem cell derived cardiomyocytes von De Bortoli, Marzia, Meraviglia, Viviana, Mackova, Katarina, Frommelt, Laura S., König, Eva, Rainer, Johannes, Volani, Chiara, Benzoni, Patrizia, Schlittler, Maja, Cattelan, Giada, Motta, Benedetta M., Volpato, Claudia, Rauhe, Werner, Barbuti, Andrea, Zacchigna, Serena, Pramstaller, Peter P., Rossini, Alessandra

“… Human induced pluripotent stem cell derived cardiomyocytes (hiPSC-CMs) are commonly used to model arrhythmogenic cardiomyopathy (ACM), a heritable cardiac …”
Volltext

Whole Exome Sequencing Enhanced Imputation Identifies 85 Metabolite Associations in the Alpine CHRIS Cohort von König, Eva, Rainer, Johannes, Hernandes, Vinicius Verri, Paglia, Giuseppe, Del Greco M., Fabiola, Bottigliengo, Daniele, Yin, Xianyong, Chan, Lap Sum, Teumer, Alexander, Pramstaller, Peter P., Locke, Adam E., Fuchsberger, Christian

“… Metabolites are intermediates or end products of biochemical processes involved in both health and disease. Here, we take advantage of the well-characterized …”
Volltext

Exploring digenic inheritance in arrhythmogenic cardiomyopathy von König, Eva, Volpato, Claudia Béu, Motta, Benedetta Maria, Blankenburg, Hagen, Picard, Anne, Pramstaller, Peter, Casella, Michela, Rauhe, Werner, Pompilio, Giulio, Meraviglia, Viviana, Domingues, Francisco S., Sommariva, Elena, Rossini, Alessandra

“… Background Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and …”
Volltext

Interstitial Deletion of 5q22.2q23.1 Including APC and TSSK1B in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia von Kadiyska, Tanya, Tourtourikov, Ivan, Petrov, Asen, Chavoushian, Ani, Antalavicheva, Miglena, König, Eva-Maria, Klopocki, Eva, Vessela, Nikolova, Stanislavov, Romil

“… Interstitial 5q22 deletions are relatively rare and usually represented by severe clinical features such as developmental delay and growth retardation. Here, …”
Weitere Angaben