Search Results - "Tennstedt, Stephanie"

Identification of a functional missense variant in the matrix metallopeptidase 10 (MMP10) gene in two families with premature myocardial infarction by Verovenko, Viktor, Tennstedt, Stephanie, Kleinecke, Mariana, Kessler, Thorsten, Schunkert, Heribert, Erdmann, Jeanette, Ensminger, Stephan, Aherrahrou, Zouhair

“…A positive family history is a major independent risk factor for atherosclerosis, and genetic variation is an important aspect of cardiovascular disease…”
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RAD21 Mutations Cause a Human Cohesinopathy by Deardorff, Matthew A., Wilde, Jonathan J., Albrecht, Melanie, Dickinson, Emma, Tennstedt, Stephanie, Braunholz, Diana, Mönnich, Maren, Yan, Yuqian, Xu, Weizhen, Gil-Rodríguez, María Concepcion, Clark, Dinah, Hakonarson, Hakon, Halbach, Sara, Michelis, Laura Daniela, Rampuria, Abhinav, Rossier, Eva, Spranger, Stephanie, Van Maldergem, Lionel, Lynch, Sally Ann, Gillessen-Kaesbach, Gabriele, Lüdecke, Hermann-Josef, Ramsay, Robert G., McKay, Michael J., Krantz, Ian D., Xu, Huiling, Horsfield, Julia A., Kaiser, Frank J.

“…The evolutionarily conserved cohesin complex was originally described for its role in regulating sister-chromatid cohesion during mitosis and meiosis. Cohesin…”
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Classification of ADAMTS binding sites: The first step toward selective ADAMTS7 inhibitors by Müller, Michaela, Kessler, Thorsten, Schunkert, Heribert, Erdmann, Jeanette, Tennstedt, Stephanie

“…Genome-wide association studies identified ADAMTS7 as a risk locus for coronary artery disease. In carotid arteries of rats, neointima formation after…”
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Nexilin in cardiomyopathy: unveiling its diverse roles with special focus on endocardial fibroelastosis by Rahimzadeh, Mahsa, Tennstedt, Stephanie, Aherrahrou, Zouhair

“…Cardiac disorders exhibit considerable heterogeneity, and understanding their genetic foundations is crucial for their diagnosis and treatment. Recent genetic…”
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Dysfunctional nitric oxide signalling increases risk of myocardial infarction by Erdmann, Jeanette, Stark, Klaus, Esslinger, Ulrike B., Rumpf, Philipp Moritz, Koesling, Doris, de Wit, Cor, Kaiser, Frank J., Braunholz, Diana, Medack, Anja, Fischer, Marcus, Zimmermann, Martina E., Tennstedt, Stephanie, Graf, Elisabeth, Eck, Sebastian, Aherrahrou, Zouhair, Nahrstaedt, Janja, Willenborg, Christina, Bruse, Petra, Brænne, Ingrid, Nöthen, Markus M., Hofmann, Per, Braund, Peter S., Mergia, Evanthia, Reinhard, Wibke, Burgdorf, Christof, Schreiber, Stefan, Balmforth, Anthony J., Hall, Alistair S., Bertram, Lars, Steinhagen-Thiessen, Elisabeth, Li, Shu-Chen, März, Winfried, Reilly, Muredach, Kathiresan, Sekar, McPherson, Ruth, Walter, Ulrich, Ott, Jurg, Samani, Nilesh J., Strom, Tim M., Meitinger, Thomas, Hengstenberg, Christian, Schunkert, Heribert

“…Two private, heterozygous mutations in two functionally related genes, GUCY1A3 and CCT7 , are identified in an extended family with myocardial infarction;…”
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Identification of a Functional PDE5A Variant at the Chromosome 4q27 Coronary Artery Disease Locus in an Extended Myocardial Infarction Family by Dang, Tan An, Kessler, Thorsten, Wobst, Jana, Wierer, Michael, Braenne, Ingrid, Strom, Tim M., Tennstedt, Stephanie, Sager, Hendrik B., Meitinger, Thomas, Erdmann, Jeanette, Schunkert, Heribert

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A novel, in‐frame KMT2B deletion in a patient with apparently isolated, generalized dystonia by Lange, Lara M., Tunc, Sinem, Tennstedt, Stephanie, Münchau, Alexander, Klein, Christine, Assmann, Birgit, Lohmann, Katja

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Genome-wide association meta-analysis of coronary artery disease and periodontitis reveals a novel shared risk locus by Munz, Matthias, Richter, Gesa M., Loos, Bruno G., Jepsen, Søren, Divaris, Kimon, Offenbacher, Steven, Teumer, Alexander, Holtfreter, Birte, Kocher, Thomas, Bruckmann, Corinna, Jockel-Schneider, Yvonne, Graetz, Christian, Munoz, Loreto, Bhandari, Anita, Tennstedt, Stephanie, Staufenbiel, Ingmar, van der Velde, Nathalie, Uitterlinden, André G., de Groot, Lisette C. P. G. M., Wellmann, Jürgen, Berger, Klaus, Krone, Bastian, Hoffmann, Per, Laudes, Matthias, Lieb, Wolfgang, Franke, Andre, Dommisch, Henrik, Erdmann, Jeanette, Schaefer, Arne S.

“…Evidence for a shared genetic basis of association between coronary artery disease (CAD) and periodontitis (PD) exists. To explore the joint genetic basis, we…”
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Stimulators of the soluble guanylyl cyclase: promising functional insights from rare coding atherosclerosis-related GUCY1A3 variants by Wobst, Jana, von Ameln, Simon, Wolf, Bernhard, Wierer, Michael, Dang, Tan An, Sager, Hendrik B., Tennstedt, Stephanie, Hengstenberg, Christian, Koesling, Doris, Friebe, Andreas, Braun, Siegmund L., Erdmann, Jeanette, Schunkert, Heribert, Kessler, Thorsten

“…Stimulators of the soluble guanylyl cyclase (sGC) are emerging therapeutic agents in cardiovascular diseases. Genetic alterations of the GUCY1A3 gene, which…”
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Screening of synthetic and natural product databases: Identification of novel androgens and antiandrogens by Bobach, Claudia, Tennstedt, Stephanie, Palberg, Kristin, Denkert, Annika, Brandt, Wolfgang, de Meijere, Armin, Seliger, Barbara, Wessjohann, Ludger A.

“…The androgen receptor is an important pharmaceutical target for a variety of diseases. This paper presents an in silico/in vitro screening procedure to…”
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Abstract 15483: Functional Relevance of Rare GUCY1A3 Variants in Patients Affected by Premature Myocardial Infarction by Wobst, Jana, Dang, Tan A, Kessler, Thorsten, von Ameln, Simon, Tennstedt, Stephanie, Hengstenberg, Christian, Erdmann, Jeanette, Schunkert, Heribert

“…IntroductionMyocardial infarction (MI) is the main complication of coronary artery disease (CAD). Recently, a locus tagging the GUCY1A3 gene has been shown to…”
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H-ABC- and dystonia-causing TUBB4A mutations show distinct pathogenic effects by Krajka, Victor, Vulinovic, Franca, Genova, Mariya, Tanzer, Kerstin, Jijumon, A S, Bodakuntla, Satish, Tennstedt, Stephanie, Mueller-Fielitz, Helge, Meier, Britta, Janke, Carsten, Klein, Christine, Rakovic, Aleksandar

“…Mutations in the brain-specific β-tubulin 4A (TUBB4A) gene cause a broad spectrum of diseases, ranging from dystonia (DYT-TUBB4A) to hypomyelination with…”
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A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family by Ramzan, Shafaq, Tennstedt, Stephanie, Tariq, Muhammad, Khan, Sheraz, Noor Ul Ayan, Hafiza, Ali, Aamir, Munz, Matthias, Thiele, Holger, Korejo, Asad Aslam, Mughal, Abdul Razzaq, Jamal, Syed Zahid, Nürnberg, Peter, Baig, Shahid Mahmood, Erdmann, Jeanette, Ahmad, Ilyas

“…Cardiac conduction disease (CCD), which causes altered electrical impulse propagation in the heart, is a life-threatening condition with high morbidity and…”
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Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23 by ERDMANN, Jeanette, WILLENBORG, Christina, AHERRAHROU, Zouhair, KLOPP, Norman, LOLEY, Christina, STARK, Klaus, HENGSTENBERG, Christian, BRUSE, Petra, FREYER, Jennifer, WAGNER, Arnika K, MEDACK, Anja, LIEB, Wolfgang, NAHRSTAEDT, Janja, GROSSHENNIG, Anika, SAGER, Hendrik B, REINHARDT, Adrian, SCHÄFER, Arne, SCHREIBER, Stefan, EDDINE EL MOKHTARI, Nour, RAAZ-SCHRAUDER, Dorette, ILLIG, Thomas, GARLICHS, Christoph D, EKICI, Arif B, PREUSS, Michael, REIS, André, SCHREZENMEIR, Jürgen, RUBIN, Diana, ZIEGLER, Andreas, WICHMANN, H.-E, DOERING, Angela, MEISINGER, Christa, MEITINGER, Thomas, PETERS, Annette, SCHUNKERT, Heribert, KÖNIG, Inke R, BAUMERT, Jens, LINSEL-NITSCHKE, Patrick, GIEGER, Christian, TENNSTEDT, Stephanie, BELCREDI, Petra

“…Recent genome-wide association (GWA) studies identified 10 chromosomal loci for coronary artery disease (CAD) or myocardial infarction (MI). However, these…”
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Abstract 19944: A PDE5A Gene Mutation Affecting Risk of Myocardial Infarction by Dang, Tan An, Braenne, Ingrid, Aherrahrou, Redouane, Tennstedt, Stephanie, Kessler, Thorsten, Hengstenberg, Christian, Erdmann, Jeanette, Schunkert, Heribert

“…Abstract only INTRODUCTION: Multiple frequent genetic variants were shown to affect myocardial infarction (MI) risk. Genetic causes for familial clustering of…”
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A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression by Bürk, Katrin, Kaiser, Frank J, Tennstedt, Stephanie, Schöls, Ludger, Kreuz, Friedmar R, Wieland, Thomas, Strom, Tim M, Büttner, Thomas, Hollstein, Ronja, Braunholz, Diana, Plaschke, Jens, Gillessen-Kaesbach, Gabriele, Zühlke, Christine

“…Abstract Spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2) and familial hemiplegic migraine type 1 (FHM1) are allelic disorders of the gene…”
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Functional evaluation of GUCY1A3 mutations associated with myocardial infarction risk by Wobst, Jana, Dang, Tan An, Kessler, Thorsten, Ameln, Simon von, Tennstedt, Stephanie, Hengstenberg, Christian, Erdmann, Jeanette, Schunkert, Heribert

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A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia by Lange, Lara M, Tunc, Sinem, Tennstedt, Stephanie, Münchau, Alexander, Klein, Christine, Assmann, Birgit, Lohmann, Katja

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