Search Results - "Graf, Elisabeth"

An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomics by Angelidis, Ilias, Simon, Lukas M., Fernandez, Isis E., Strunz, Maximilian, Mayr, Christoph H., Greiffo, Flavia R., Tsitsiridis, George, Ansari, Meshal, Graf, Elisabeth, Strom, Tim-Matthias, Nagendran, Monica, Desai, Tushar, Eickelberg, Oliver, Mann, Matthias, Theis, Fabian J., Schiller, Herbert B.

“…Aging promotes lung function decline and susceptibility to chronic lung diseases, which are the third leading cause of death worldwide. Here, we use single…”
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A decade of irrigation transforms the soil microbiome of a semi‐arid pine forest by Hartmann, Martin, Brunner, Ivano, Hagedorn, Frank, Bardgett, Richard D., Stierli, Beat, Herzog, Claude, Chen, Xiamei, Zingg, Andreas, Graf‐Pannatier, Elisabeth, Rigling, Andreas, Frey, Beat

“…The impact of climate change on the soil microbiome potentially alters the biogeochemical cycle of terrestrial ecosystems. In semi‐arid environments, water…”
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Seasonal transfer of oxygen isotopes from precipitation and soil to the tree ring: source water versus needle water enrichment by Treydte, Kerstin, Boda, Sonja, Graf Pannatier, Elisabeth, Fonti, Patrick, Frank, David, Ullrich, Bastian, Saurer, Matthias, Siegwolf, Rolf, Battipaglia, Giovanna, Werner, Willy, Gessler, Arthur

“…For accurate interpretation of oxygen isotopes in tree rings (δ¹⁸O), it is necessary to disentangle the mechanisms underlying the variations in the tree's…”
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The response of soil solution chemistry in European forests to decreasing acid deposition by Johnson, James, Graf Pannatier, Elisabeth, Carnicelli, Stefano, Cecchini, Guia, Clarke, Nicholas, Cools, Nathalie, Hansen, Karin, Meesenburg, Henning, Nieminen, Tiina M., Pihl‐Karlsson, Gunilla, Titeux, Hugues, Vanguelova, Elena, Verstraeten, Arne, Vesterdal, Lars, Waldner, Peter, Jonard, Mathieu

“…Acid deposition arising from sulphur (S) and nitrogen (N) emissions from fossil fuel combustion and agriculture has contributed to the acidification of…”
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Contrasting stomatal sensitivity to temperature and soil drought in mature alpine conifers by Peters, Richard L., Speich, Matthias, Pappas, Christoforos, Kahmen, Ansgar, Arx, Georg, Graf Pannatier, Elisabeth, Steppe, Kathy, Treydte, Kerstin, Stritih, Ana, Fonti, Patrick

“…Conifers growing at high elevations need to optimize their stomatal conductance (gs) for maximizing photosynthetic yield while minimizing water loss under less…”
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Genetic diagnosis of Mendelian disorders via RNA sequencing by Kremer, Laura S., Bader, Daniel M., Mertes, Christian, Kopajtich, Robert, Pichler, Garwin, Iuso, Arcangela, Haack, Tobias B., Graf, Elisabeth, Schwarzmayr, Thomas, Terrile, Caterina, Koňaříková, Eliška, Repp, Birgit, Kastenmüller, Gabi, Adamski, Jerzy, Lichtner, Peter, Leonhardt, Christoph, Funalot, Benoit, Donati, Alice, Tiranti, Valeria, Lombes, Anne, Jardel, Claude, Gläser, Dieter, Taylor, Robert W., Ghezzi, Daniele, Mayr, Johannes A., Rötig, Agnes, Freisinger, Peter, Distelmaier, Felix, Strom, Tim M., Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger

“…Across a variety of Mendelian disorders, ∼50–75% of patients do not receive a genetic diagnosis by exome sequencing indicating disease-causing variants in…”
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Unenriched xylem water contribution during cellulose synthesis influenced by atmospheric demand governs the intra‐annual tree‐ring δ18O signature by Elisabet Martínez‐Sancho, Cernusak, Lucas A, Fonti, Patrick, Gregori, Alessandro, Ullrich, Bastian, Elisabeth Graf Pannatier, Gessler, Arthur, Lehmann, Marco M, Saurer, Matthias, Treydte, Kerstin

“…The oxygen isotope composition (δ18O) of tree‐ring cellulose is used to evaluate tree physiological responses to climate, but their interpretation is still…”
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Intermuscular adipose tissue directly modulates skeletal muscle insulin sensitivity in humans by Sachs, Stephan, Zarini, Simona, Kahn, Darcy E, Harrison, Kathleen A, Perreault, Leigh, Phang, Tzu, Newsom, Sean A, Strauss, Allison, Kerege, Anna, Schoen, Jonathan A, Bessesen, Daniel H, Schwarzmayr, Thomas, Graf, Elisabeth, Lutter, Dominik, Krumsiek, Jan, Hofmann, Susanna M, Bergman, Bryan C

“…Intermuscular adipose tissue (IMAT) is negatively related to insulin sensitivity, but a causal role of IMAT in the development of insulin resistance is…”
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Nine years of irrigation cause vegetation and fine root shifts in a water-limited pine forest by Herzog, Claude, Steffen, Jan, Graf Pannatier, Elisabeth, Hajdas, Irka, Brunner, Ivano

“…Scots pines (Pinus sylvestris L.) in the inner-Alpine dry valleys of Switzerland have suffered from increased mortality during the past decades, which has been…”
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Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension by Beuschlein, Felix, Boulkroun, Sheerazed, Osswald, Andrea, Wieland, Thomas, Nielsen, Hang N, Lichtenauer, Urs D, Penton, David, Schack, Vivien R, Amar, Laurence, Fischer, Evelyn, Walther, Anett, Tauber, Philipp, Schwarzmayr, Thomas, Diener, Susanne, Graf, Elisabeth, Allolio, Bruno, Samson-Couterie, Benoit, Benecke, Arndt, Quinkler, Marcus, Fallo, Francesco, Plouin, Pierre-Francois, Mantero, Franco, Meitinger, Thomas, Mulatero, Paolo, Jeunemaitre, Xavier, Warth, Richard, Vilsen, Bente, Zennaro, Maria-Christina, Strom, Tim M, Reincke, Martin

“…Felix Beuschlein, Martin Reincke and colleagues identify recurrent somatic mutations in ATP1A1 and ATP2B3 in aldosterone-producing adenomas with wild-type…”
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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study by Rauch, Anita, Prof, Wieczorek, Dagmar, MD, Graf, Elisabeth, MSc, Wieland, Thomas, MSc, Endele, Sabine, PhD, Schwarzmayr, Thomas, MSc, Albrecht, Beate, MD, Bartholdi, Deborah, MD, Beygo, Jasmin, MSc, Di Donato, Nataliya, MD, Dufke, Andreas, MD, Cremer, Kirsten, MD, Hempel, Maja, MD, Horn, Denise, MD, Hoyer, Juliane, MD, Joset, Pascal, PhD, Röpke, Albrecht, PhD, Moog, Ute, MD, Riess, Angelika, MD, Thiel, Christian T, MD, Tzschach, Andreas, MD, Wiesener, Antje, MD, Wohlleber, Eva, MD, Zweier, Christiane, MD, Ekici, Arif B, PhD, Zink, Alexander M, MSc, Rump, Andreas, PhD, Meisinger, Christa, MD, Grallert, Harald, PhD, Sticht, Heinrich, PhD, Schenck, Annette, PhD, Engels, Hartmut, PhD, Rappold, Gudrun, Prof, Schröck, Evelin, Prof, Wieacker, Peter, Prof, Riess, Olaf, Prof, Meitinger, Thomas, Prof, Reis, André, Prof, Strom, Tim M, Dr

“…Summary Background The genetic cause of intellectual disability in most patients is unclear because of the absence of morphological clues, information about…”
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A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease by Zimprich, Alexander, Benet-Pagès, Anna, Struhal, Walter, Graf, Elisabeth, Eck, Sebastian H., Offman, Marc N., Haubenberger, Dietrich, Spielberger, Sabine, Schulte, Eva C., Lichtner, Peter, Rossle, Shaila C., Klopp, Norman, Wolf, Elisabeth, Seppi, Klaus, Pirker, Walter, Presslauer, Stefan, Mollenhauer, Brit, Katzenschlager, Regina, Foki, Thomas, Hotzy, Christoph, Reinthaler, Eva, Harutyunyan, Ashot, Kralovics, Robert, Peters, Annette, Zimprich, Fritz, Brücke, Thomas, Poewe, Werner, Auff, Eduard, Trenkwalder, Claudia, Rost, Burkhard, Ransmayr, Gerhard, Winkelmann, Juliane, Meitinger, Thomas, Strom, Tim M.

“…To identify rare causal variants in late-onset Parkinson disease (PD), we investigated an Austrian family with 16 affected individuals by exome sequencing. We…”
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Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease by Wagner, Matias, Berutti, Riccardo, Lorenz‐Depiereux, Bettina, Graf, Elisabeth, Eckstein, Gertrud, Mayr, Johannes A., Meitinger, Thomas, Ahting, Uwe, Prokisch, Holger, Strom, Tim M., Wortmann, Saskia B.

“…Diagnostics for suspected mitochondrial disease (MD) can be challenging and necessitate invasive procedures like muscle biopsy. This is due to the extremely…”
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Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice by Keipert, Susanne, Lutter, Dominik, Schroeder, Bjoern O., Brandt, Daniel, Ståhlman, Marcus, Schwarzmayr, Thomas, Graf, Elisabeth, Fuchs, Helmut, de Angelis, Martin Hrabe, Tschöp, Matthias H., Rozman, Jan, Jastroch, Martin

“…Uncoupling protein 1 (UCP1) executes thermogenesis in brown adipose tissue, which is a major focus of human obesity research. Although the UCP1-knockout (UCP1…”
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De novo variants in neurodevelopmental disorders—experiences from a tertiary care center by Brunet, Theresa, Jech, Robert, Brugger, Melanie, Kovacs, Reka, Alhaddad, Bader, Leszinski, Gloria, Riedhammer, Korbinian M., Westphal, Dominik S., Mahle, Isabella, Mayerhanser, Katharina, Skorvanek, Matej, Weber, Sandrina, Graf, Elisabeth, Berutti, Riccardo, Necpál, Ján, Havránková, Petra, Pavelekova, Petra, Hempel, Maja, Kotzaeridou, Urania, Hoffmann, Georg F., Leiz, Steffen, Makowski, Christine, Roser, Timo, Schroeder, Sebastian A., Steinfeld, Robert, Strobl‐Wildemann, Gertrud, Hoefele, Julia, Borggraefe, Ingo, Distelmaier, Felix, Strom, Tim M., Winkelmann, Juliane, Meitinger, Thomas, Zech, Michael, Wagner, Matias

“…Up to 40% of neurodevelopmental disorders (NDDs) such as intellectual disability, developmental delay, autism spectrum disorder, and developmental motor…”
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Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA by Haack, Tobias B., Hogarth, Penelope, Kruer, Michael C., Gregory, Allison, Wieland, Thomas, Schwarzmayr, Thomas, Graf, Elisabeth, Sanford, Lynn, Meyer, Esther, Kara, Eleanna, Cuno, Stephan M., Harik, Sami I., Dandu, Vasuki H., Nardocci, Nardo, Zorzi, Giovanna, Dunaway, Todd, Tarnopolsky, Mark, Skinner, Steven, Frucht, Steven, Hanspal, Era, Schrander-Stumpel, Connie, Héron, Delphine, Mignot, Cyril, Garavaglia, Barbara, Bhatia, Kailash, Hardy, John, Strom, Tim M., Boddaert, Nathalie, Houlden, Henry H., Kurian, Manju A., Meitinger, Thomas, Prokisch, Holger, Hayflick, Susan J.

“…Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report…”
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Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy by WINKELMANN, Juliane, LING LIN, POLI, Francesca, GRUBERT, Fabian, WIELAND, Thomas, GRAF, Elisabeth, HALLMAYER, Joachim, STROM, Tim M, MIGNOT, Emmanuel, SCHORMAIR, Barbara, KORNUM, Birgitte R, FARACO, Juliette, PLAZZI, Giuseppe, MELBERG, Atle, CORNELIO, Ferdinando, URBAN, Alexander E, PIZZA, Fabio

“…Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal…”
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Driver mutations in USP8 wild-type Cushing's disease by Sbiera, Silviu, Perez-Rivas, Luis Gustavo, Taranets, Lyudmyla, Weigand, Isabel, Flitsch, Jörg, Graf, Elisabeth, Monoranu, Camelia-Maria, Saeger, Wolfgang, Hagel, Christian, Honegger, Jürgen, Assie, Guillaume, Hermus, Ad R, Stalla, Günter K, Herterich, Sabine, Ronchi, Cristina L, Deutschbein, Timo, Reincke, Martin, Strom, Tim M, Popov, Nikita, Theodoropoulou, Marily, Fassnacht, Martin

“…Medical treatment in Cushing's disease (CD) is limited due to poor understanding of its pathogenesis. Pathogenic variants of ubiquitin specific peptidase 8…”
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Biallelic mutations of the methionyl-tRNA synthetase (MARS) cause a specific type of pulmonary alveolar proteinosis prevalent on Réunion Island by Hadchouel, Alice, Wieland, Thomas, Griese, Matthias, Baruffini, Enrico, Lorenz-Depiereux, Bettina, Enaud, Laurent, Graf, Elisabeth, Dubus, Jean Christophe, Halioui-Louhaichi, Sonia, Coulomb, Aurore, Delacourt, Christophe, Eckstein, Gertrud, Zarbock, Ralf, Schwarzmayr, Thomas, Cartault, François, Meitinger, Thomas, Lodi, Tiziana, de Blic, Jacques, Strom, Tim M.

“…Methionyl-tRNA synthetase (MARS) catalyzes the ligation of methionine to tRNA and is critical for protein biosynthesis. We identified biallelic missense…”
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Interplay of cell–cell contacts and RhoA/MRTF‐A signaling regulates cardiomyocyte identity by Dorn, Tatjana, Kornherr, Jessica, Parrotta, Elvira I, Zawada, Dorota, Ayetey, Harold, Santamaria, Gianluca, Iop, Laura, Mastantuono, Elisa, Sinnecker, Daniel, Goedel, Alexander, Dirschinger, Ralf J, My, Ilaria, Laue, Svenja, Bozoglu, Tarik, Baarlink, Christian, Ziegler, Tilman, Graf, Elisabeth, Hinkel, Rabea, Cuda, Giovanni, Kääb, Stefan, Grace, Andrew A, Grosse, Robert, Kupatt, Christian, Meitinger, Thomas, Smith, Austin G, Laugwitz, Karl‐Ludwig, Moretti, Alessandra

“…Cell–cell and cell–matrix interactions guide organ development and homeostasis by controlling lineage specification and maintenance, but the underlying…”
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