Zobrazeno 1 - 10
of 97
pro vyhledávání: '"Franz, Rüschendorf"'
Autor:
Sarah Grosche, Ingo Marenholz, Jorge Esparza-Gordillo, Aleix Arnau-Soler, Erola Pairo-Castineira, Franz Rüschendorf, Tarunveer S. Ahluwalia, Catarina Almqvist, Andreas Arnold, Australian Asthma Genetics Consortium (AAGC), Hansjörg Baurecht, Hans Bisgaard, Klaus Bønnelykke, Sara J. Brown, Mariona Bustamante, John A. Curtin, Adnan Custovic, Shyamali C. Dharmage, Ana Esplugues, Mario Falchi, Dietmar Fernandez-Orth, Manuel A. R. Ferreira, Andre Franke, Sascha Gerdes, Christian Gieger, Hakon Hakonarson, Patrick G. Holt, Georg Homuth, Norbert Hubner, Pirro G. Hysi, Marjo-Riitta Jarvelin, Robert Karlsson, Gerard H. Koppelman, Susanne Lau, Manuel Lutz, Patrik K. E. Magnusson, Guy B. Marks, Martina Müller-Nurasyid, Markus M. Nöthen, Lavinia Paternoster, Craig E. Pennell, Annette Peters, Konrad Rawlik, Colin F. Robertson, Elke Rodriguez, Sylvain Sebert, Angela Simpson, Patrick M. A. Sleiman, Marie Standl, Dora Stölzl, Konstantin Strauch, Agnieszka Szwajda, Albert Tenesa, Philip J. Thompson, Vilhelmina Ullemar, Alessia Visconti, Judith M. Vonk, Carol A. Wang, Stephan Weidinger, Matthias Wielscher, Catherine L. Worth, Chen-Jian Xu, Young-Ae Lee
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Genetic studies of eczema to date have mostly explored common genetic variation. Here, the authors perform a large meta-analysis for common and rare variants and discover 8 loci associated with eczema. Over 20% of the heritability of the condition is
Externí odkaz:
https://doaj.org/article/d54f293b9f924ec89242fe90b53feed8
Autor:
Hyung-Goo Kim, Jill A. Rosenfeld, Daryl A. Scott, Gerard Bénédicte, Jonathan D. Labonne, Jason Brown, Marianne McGuire, Sonal Mahida, Sakkubai Naidu, Jacqueline Gutierrez, Gaetan Lesca, Vincent des Portes, Ange-Line Bruel, Arthur Sorlin, Fan Xia, Yline Capri, Eric Muller, Dianalee McKnight, Erin Torti, Franz Rüschendorf, Oliver Hummel, Zeyaul Islam, Prasanna R. Kolatkar, Lawrence C. Layman, Duchwan Ryu, Il-Keun Kong, Suneeta Madan-Khetarpal, Cheol-Hee Kim
Publikováno v:
Molecular Autism, Vol 10, Iss 1, Pp 1-15 (2019)
Abstract Background PHF21A has been associated with intellectual disability and craniofacial anomalies based on its deletion in the Potocki-Shaffer syndrome region at 11p11.2 and its disruption in three patients with balanced translocations. In addit
Externí odkaz:
https://doaj.org/article/f02d9289960547e38357f179ca8011af
Autor:
Manuel A R Ferreira, Judith M Vonk, Hansjörg Baurecht, Ingo Marenholz, Chao Tian, Joshua D Hoffman, Quinta Helmer, Annika Tillander, Vilhelmina Ullemar, Yi Lu, Sarah Grosche, Franz Rüschendorf, Raquel Granell, Ben M Brumpton, Lars G Fritsche, Laxmi Bhatta, Maiken E Gabrielsen, Jonas B Nielsen, Wei Zhou, Kristian Hveem, Arnulf Langhammer, Oddgeir L Holmen, Mari Løset, Gonçalo R Abecasis, Cristen J Willer, Nima C Emami, Taylor B Cavazos, John S Witte, Agnieszka Szwajda, andMe Research Team, collaborators of the SHARE study, David A Hinds, Norbert Hübner, Stephan Weidinger, Patrik Ke Magnusson, Eric Jorgenson, Robert Karlsson, Lavinia Paternoster, Dorret I Boomsma, Catarina Almqvist, Young-Ae Lee, Gerard H Koppelman
Publikováno v:
PLoS Genetics, Vol 16, Iss 6, p e1008725 (2020)
Risk factors that contribute to inter-individual differences in the age-of-onset of allergic diseases are poorly understood. The aim of this study was to identify genetic risk variants associated with the age at which symptoms of allergic disease fir
Externí odkaz:
https://doaj.org/article/4529d4b958ea4684aa8f46663d834028
Autor:
Ingo Marenholz, Sarah Grosche, Birgit Kalb, Franz Rüschendorf, Katharina Blümchen, Rupert Schlags, Neda Harandi, Mareike Price, Gesine Hansen, Jürgen Seidenberg, Holger Röblitz, Songül Yürek, Sebastian Tschirner, Xiumei Hong, Xiaobin Wang, Georg Homuth, Carsten O. Schmidt, Markus M. Nöthen, Norbert Hübner, Bodo Niggemann, Kirsten Beyer, Young-Ae Lee
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)
Food allergy is an increasing public health problem. In a genome-wide scan of children diagnosed by oral food challenge, Marenholz et al. find new genetic associations underlying food allergy, implicating the immune system and the epithelial barrier.
Externí odkaz:
https://doaj.org/article/9babf9e0239a43b69d6b7286939ba997
Autor:
Matthias Heinig, Michiel E. Adriaens, Sebastian Schafer, Hanneke W. M. van Deutekom, Elisabeth M. Lodder, James S. Ware, Valentin Schneider, Leanne E. Felkin, Esther E. Creemers, Benjamin Meder, Hugo A. Katus, Frank Rühle, Monika Stoll, François Cambien, Eric Villard, Philippe Charron, Andras Varro, Nanette H. Bishopric, Alfred L. George, Cristobal dos Remedios, Aida Moreno-Moral, Francesco Pesce, Anja Bauerfeind, Franz Rüschendorf, Carola Rintisch, Enrico Petretto, Paul J. Barton, Stuart A. Cook, Yigal M. Pinto, Connie R. Bezzina, Norbert Hubner
Publikováno v:
Genome Biology, Vol 18, Iss 1, Pp 1-21 (2017)
Abstract Background Genetic variation is an important determinant of RNA transcription and splicing, which in turn contributes to variation in human traits, including cardiovascular diseases. Results Here we report the first in-depth survey of heart
Externí odkaz:
https://doaj.org/article/8e7bacbcd5ca43fa9bd815bc4899b453
Autor:
Harald Prüss, Guido Gessner, Stefan H. Heinemann, Franz Rüschendorf, Ann-Kathrin Ruppert, Herbert Schulz, Thomas Sander, Wilhelm Rimpau
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Mutations in several genes encoding ion channels can cause the long-QT (LQT) syndrome with cardiac arrhythmias, syncope and sudden death. Recently, mutations in some of these genes were also identified to cause epileptic seizures in these patients, a
Externí odkaz:
https://doaj.org/article/3cefa7166a1c4a8eb67dbab21883cf8b
Autor:
Sheng‐Jia Lin, Barbara Vona, Hillary M. Porter, Mahmoud Izadi, Kevin Huang, Yves Lacassie, Jill A. Rosenfeld, Saadullah Khan, Cassidy Petree, Tayyiba A. Ali, Nazif Muhammad, Sher A. Khan, Noor Muhammad, Pengfei Liu, Marie‐Louise Haymon, Franz Rüschendorf, Il‐Keun Kong, Linda Schnapp, Natasha Shur, Lynn Chorich, Lawrence Layman, Thomas Haaf, Ehsan Pourkarimi, Hyung‐Goo Kim, Gaurav K. Varshney
Aminoacyl-tRNA synthetases (ARSs) are essential enzymes for faithful assignment of amino acids to their cognate tRNA. Variants in ARS genes are frequently associated with clinically heterogeneous phenotypes in humans and follow both autosomal dominan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b88e6caf574781b7bba2fb8678b4ca90
http://edoc.mdc-berlin.de/21788/2/21788suppl.zip
http://edoc.mdc-berlin.de/21788/2/21788suppl.zip
Autor:
Franz Rüschendorf, Sylvia Bähring, Maolian Gong, Junqing Liang, Lei Zhao, Friedrich C. Luft, Sebastian Froehler, Shuilong Wu, Giannino Patone, Feng Yufei, Guoan Li, Jingjing Zhang, Xiulan Su, Wei Chen, Hongwei Cui, Hao Hu, Liang Fang, Khalid Hussain, Sofia Rahman, Oliver Hummel, Klemens Raile, Yong Yu, Qinghua Chen
Publikováno v:
Journal of Genetics and Genomics. 47:618-626
Congenital hearing loss is a common disorder worldwide. Heterogeneous gene variation accounts for approximately 20-25% of such patients. We investigated a five-generation Chinese family with autosomal-dominant nonsyndromic sensorineural hearing loss
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfdc19f9c61c72196418ff81f86eb9b4
https://doi.org/10.1016/j.jgg.2020.07.008
https://doi.org/10.1016/j.jgg.2020.07.008
Autor:
Henry Houlden, Thomas Haaf, Pratishtha Varshney, Christian Beetz, Hamid Galehdari, Lucy A Dunbar, Alireza Sedaghat, Richard J.H. Smith, Michael R. Bowl, Aziz El-Amraoui, Kevin T. Booth, David Murphy, Neda Mazaheri, Sandrine Vitry, Kumar N. Alagramam, Ben Fowler, Shruthi VijayKumar, Aboulfazl Rad, Hela Azaiez, Cassidy Petree, Barbara Vona, Sheng-Jia Lin, Gholamreza Shariati, Reza Maroofian, Franz Rüschendorf, Gaurav K. Varshney
Publikováno v:
Human Genetics
Human Genetics, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Human Genetics, Springer Verlag, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Human Genetics, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Human Genetics, Springer Verlag, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Deafness, the most frequent sensory deficit in humans, is extremely heterogeneous with hundreds of genes involved. Clinical and genetic analyses of an extended consanguineous family with pre-lingual, moderate-to-profound autosomal recessive sensorine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ec2c6de213429b2f5213b9170fe9c29
https://doi.org/10.1007/s00439-020-02254-z
https://doi.org/10.1007/s00439-020-02254-z
Autor:
Sher Alam Khan, Marcus Dittrich, Tobias Müller, Hamed Nawaz, Julia Doll, Imran Khan, Lawrence C. Layman, Laura Kühlewein, Naseer Ahmad, Susanne M. Kolb, Noor Muhammad, Hyung-Goo Kim, Il-Keun Kong, Jonathan D J Labonne, Ajmal Khan, Franz Rüschendorf, Tabea Röder, Saadullah Khan, Indrajit Nanda, Barbara Vona, Linda Schnapp, Thomas Haaf, Michaela A.H. Hofrichter, Tyler D. Graves
Publikováno v:
Genes
Volume 11
Issue 11
Genes, Vol 11, Iss 1329, p 1329 (2020)
Volume 11
Issue 11
Genes, Vol 11, Iss 1329, p 1329 (2020)
The current molecular genetic diagnostic rates for hereditary hearing loss (HL) vary considerably according to the population background. Pakistan and other countries with high rates of consanguineous marriages have served as a unique resource for st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0eab6ce593711c04f4e2bc4a83a9040
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-219293
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-219293