Search Results - "Brænne, Ingrid"

Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N‐terminal cleavage site of bradykinin by Bork, Konrad, Wulff, Karin, Rossmann, Heidi, Steinmüller‐Magin, Lars, Brænne, Ingrid, Witzke, Günther, Hardt, Jochen

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Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction by Brænne, Ingrid, Kleinecke, Mariana, Reiz, Benedikt, Graf, Elisabeth, Strom, Tim, Wieland, Thomas, Fischer, Marcus, Kessler, Thorsten, Hengstenberg, Christian, Meitinger, Thomas, Erdmann, Jeanette, Schunkert, Heribert

“…Familial hypercholesterolemia (FH) is an oligogenic disorder characterized by markedly elevated low-density lipoprotein cholesterol (LDLC) levels. Variants in…”
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Prediction of Causal Candidate Genes in Coronary Artery Disease Loci by Brænne, Ingrid, Civelek, Mete, Vilne, Baiba, Di Narzo, Antonio, Johnson, Andrew D, Zhao, Yuqi, Reiz, Benedikt, Codoni, Veronica, Webb, Thomas R, Foroughi Asl, Hassan, Hamby, Stephen E, Zeng, Lingyao, Trégouët, David-Alexandre, Hao, Ke, Topol, Eric J, Schadt, Eric E, Yang, Xia, Samani, Nilesh J, Björkegren, Johan L M, Erdmann, Jeanette, Schunkert, Heribert, Lusis, Aldons J

“…Genome-wide association studies have to date identified 159 significant and suggestive loci for coronary artery disease (CAD). We now report comprehensive…”
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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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A familial congenital heart disease with a possible multigenic origin involving a mutation in BMPR1A by Demal, Till Joscha, Heise, Melina, Reiz, Benedikt, Dogra, Deepika, Brænne, Ingrid, Reichenspurner, Hermann, Männer, Jörg, Aherrahrou, Zouhair, Schunkert, Heribert, Erdmann, Jeanette, Abdelilah-Seyfried, Salim

“…The genetics of many congenital heart diseases (CHDs) can only unsatisfactorily be explained by known chromosomal or Mendelian syndromes. Here, we present…”
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New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3) by Domingo, Aloysius, Westenberger, Ana, Lee, Lillian V, Brænne, Ingrid, Liu, Tian, Vater, Inga, Rosales, Raymond, Jamora, Roland Dominic, Pasco, Paul Matthew, Cutiongco-Dela Paz, Eva Maria, Freimann, Karen, Schmidt, Thomas Gpm, Dressler, Dirk, Kaiser, Frank J, Bertram, Lars, Erdmann, Jeanette, Lohmann, Katja, Klein, Christine

“…X-linked recessive dystonia-parkinsonism is a rare movement disorder that is highly prevalent in Panay Island in the Philippines. Earlier studies identified…”
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PLA2G6 mutations and Parkinsonism: Long-term follow-up of clinical features and neuropathology by Klein, Christine, Löchte, Tobias, Delamonte, Suzanne M., Brænne, Ingrid, Hicks, Andrew A., Zschiedrich-Jansen, Katja, Simon, David K., Friedman, Joseph H., Lohmann, Katja

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Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics by Braunholz, Diana, Obieglo, Carolin, Parenti, Ilaria, Pozojevic, Jelena, Eckhold, Juliane, Reiz, Benedikt, Brænne, Ingrid, Wendt, Kerstin S., Watrin, Erwan, Vodopiutz, Julia, Rieder, Harald, Gillessen‐Kaesbach, Gabriele, Kaiser, Frank J.

“…ABSTRACT Cornelia de Lange syndrome (CdLS) is a well‐characterized developmental disorder. The genetic cause of CdLS is a mutation in one of five associated…”
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Dynamic changes in immune gene co-expression networks predict development of type 1 diabetes by Brænne, Ingrid, Onengut-Gumuscu, Suna, Chen, Ruoxi, Manichaikul, Ani W., Rich, Stephen S., Chen, Wei-Min, Farber, Charles R.

“…Significant progress has been made in elucidating genetic risk factors influencing Type 1 diabetes (T1D); however, features other than genetic variants that…”
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A genomic exploration identifies mechanisms that may explain adverse cardiovascular effects of COX-2 inhibitors by Brænne, Ingrid, Willenborg, Christina, Tragante, Vinicius, Kessler, Thorsten, Zeng, Lingyao, Reiz, Benedikt, Kleinecke, Mariana, von Ameln, Simon, Willer, Cristen J., Laakso, Markku, Wild, Philipp S., Zeller, Tanja, Wallentin, Lars, Franks, Paul W., Salomaa, Veikko, Dehghan, Abbas, Meitinger, Thomas, Samani, Nilesh J., Asselbergs, Folkert W., Erdmann, Jeanette, Schunkert, Heribert

“…Cyclooxygenase-2 inhibitors (coxibs) are characterized by multiple molecular off-target effects and increased coronary artery disease (CAD) risk. Here, we…”
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Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only by Wilcox, Robert, Brænne, Ingrid, Brüggemann, Norbert, Winkler, Susen, Wiegers, Karin, Bertram, Lars, Anderson, Tim, Lohmann, Katja

“…Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal movements or postures. Several genetic causes…”
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Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia by Mišković, Nataša Dragašević, Domingo, Aloysius, Dobričić, Valerija, Max, Christoph, Brænne, Ingrid, Petrović, Igor, Grütz, Karen, Pawlack, Heike, Tournev, Ivailo, Kalaydjieva, Luba, Svetel, Marina, Lohmann, Katja, Kostić, Vladimir S, Westenberger, Ana

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Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia by Brænne, Ingrid, Reiz, Benedikt, Medack, Anja, Kleinecke, Mariana, Fischer, Marcus, Tuna, Salih, Hengstenberg, Christian, Deloukas, Panos, Erdmann, Jeanette, Schunkert, Heribert

“…Familial hypercholesterolemia (FH) is an autosomal-dominant disease leading to markedly elevated low-density lipoprotein (LDL) cholesterol levels and increased…”
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Expression Quantitative Trait Loci Acting Across Multiple Tissues Are Enriched in Inherited Risk for Coronary Artery Disease by Foroughi Asl, Hassan, Talukdar, Husain A, Kindt, Alida S.D, Jain, Rajeev K, Ermel, Raili, Ruusalepp, Arno, Nguyen, Khanh-Dung H, Dobrin, Radu, Reilly, Dermot F, Schunkert, Heribert, Samani, Nilesh J, Braenne, Ingrid, Erdmann, Jeanette, Melander, Olle, Qi, Jianlong, Ivert, Torbjörn, Skogsberg, Josefin, Schadt, Eric E, Michoel, Tom, Björkegren, Johan L.M

“…BACKGROUND—Despite recent discoveries of new genetic risk factors, the majority of risk for coronary artery disease (CAD) remains elusive. As the most proximal…”
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Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics by Braunholz, Diana, Obieglo, Carolin, Parenti, Ilaria, Pozojevic, Jelena, Eckhold, Juliane, Reiz, Benedikt, Brænne, Ingrid, Wendt, Kerstin S., Watrin, Erwan, Vodopiutz, Julia, Rieder, Harald, Gillessen-Kaesbach, Gabriele, Kaiser, Frank J.

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Druggability of Coronary Artery Disease Risk Loci by Tragante, Vinicius, Hemerich, Daiane, Alshabeeb, Mohammad, Brænne, Ingrid, Lempiäinen, Harri, Patel, Riyaz S, den Ruijter, Hester M, Barnes, Michael R, Moore, Jason H, Schunkert, Heribert, Erdmann, Jeanette, Asselbergs, Folkert W

“…Genome-wide association studies have identified multiple loci associated with coronary artery disease and myocardial infarction, but only a few of these loci…”
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Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics by Braunholz, Diana, Obieglo, Carolin, Parenti, Ilaria, Pozojevic, Jelena, Eckhold, Juliane, Reiz, Benedikt, Brænne, Ingrid, Wendt, Kerstin S., Watrin, Erwan, Vodopiutz, Julia, Rieder, Harald, Gillessen-Kaesbach, Gabriele, Kaiser, Frank J.

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Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias by Hebert, Eva, Borngräber, Friederike, Schmidt, Alexander, Rakovic, Aleksandar, Brænne, Ingrid, Weissbach, Anne, Hampf, Jennie, Vollstedt, Eva-Juliane, Größer, Leopold, Schaake, Susen, Müller, Michaela, Manzoor, Humera, Jabusch, Hans-Christian, Alvarez-Fischer, Daniel, Kasten, Meike, Kostic, Vladimir S, Gasser, Thomas, Zeuner, Kirsten E, Kim, Han-Joon, Jeon, Beomseok, Bauer, Peter, Altenmüller, Eckart, Klein, Christine, Lohmann, Katja

“…Mutations in RAB (member of the Ras superfamily) genes are increasingly recognized as cause of a variety of disorders including neurological conditions. While…”
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Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study by Linsel-Nitschke, Patrick, Götz, Anika, Erdmann, Jeanette, Braenne, Ingrid, Braund, Peter, Hengstenberg, Christian, Stark, Klaus, Fischer, Marcus, Schreiber, Stefan, El Mokhtari, Nour Eddine, Schaefer, Arne, Schrezenmeir, Jürgen, Schrezenmeier, Jürgen, Rubin, Diana, Hinney, Anke, Reinehr, Thomas, Roth, Christian, Ortlepp, Jan, Hanrath, Peter, Hall, Alistair S, Mangino, Massimo, Lieb, Wolfgang, Lamina, Claudia, Heid, Iris M, Doering, Angela, Gieger, Christian, Peters, Annette, Meitinger, Thomas, Wichmann, H-Erich, König, Inke R, Ziegler, Andreas, Kronenberg, Florian, Samani, Nilesh J, Schunkert, Heribert

“…Rare mutations of the low-density lipoprotein receptor gene (LDLR) cause familial hypercholesterolemia, which increases the risk for coronary artery disease…”
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Abstract 19822: Ldlr Splice-Site Mutation (ivs9-1g>A) Identified by Whole-Exome Sequencing in an Extended Family with Myocardial Infarction by Brænne, Ingrid, Medack, Anja, Stark, Klaus, Field, Sarah, Tuna, Salih, Deloukas, Panos, Samani, Nilesh J, Schunkert, Heribert, Hengstenberg, Christian, Erdmann, Jeanette

“…Abstract only Introduction: Large genome-wide association studies have identified a number of chromosomal loci for CAD and MI, which display clear significance…”
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