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Franz Rüschendorf
Researcher at Max Delbrück Center for Molecular Medicine
Publications - 106
Citations - 9123
Franz Rüschendorf is an academic researcher from Max Delbrück Center for Molecular Medicine. The author has contributed to research in topics: Genetic linkage & Locus (genetics). The author has an hindex of 49, co-authored 105 publications receiving 8268 citations. Previous affiliations of Franz Rüschendorf include University of Bonn & Humboldt University of Berlin.
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Journal ArticleDOI
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.
Anita Rauch,Juliane Hoyer,Sabine Guth,Christiane Zweier,Cornelia Kraus,Christian Becker,Martin Zenker,Ulrike Hüffmeier,Christian Thiel,Franz Rüschendorf,Peter Nürnberg,André Reis,Udo Trautmann +12 more
TL;DR: The diagnostic yield of conventional karyotyping, subtelomeric screening, molecular karyotypes, X‐inactivation studies, and dysmorphological evaluation with targeted laboratory testing in unselected patients referred for developmental delay or mental retardation is analyzed.
Journal ArticleDOI
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.
Louise A. Metherell,J. Paul Chapple,Sadani N. Cooray,Alessia David,Christian Becker,Franz Rüschendorf,Danielle Naville,Martine Begeot,Bernard Khoo,Peter Nürnberg,Angela Huebner,Michael E. Cheetham,Adrian J. L. Clark +12 more
TL;DR: It is shown that MRAP interacts withMC2R and may have a role in the trafficking of MC2R from the endoplasmic reticulum to the cell surface and may be involved in the Trafficking of melanocortin 2 receptor accessory protein (MRAP).
Journal ArticleDOI
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth.
Sandra M. Pasternack,Ivar von Kügelgen,Khalid Al Aboud,Young-Ae Lee,Young-Ae Lee,Franz Rüschendorf,Katrin Voss,Axel M. Hillmer,Gerhard J. Molderings,Thomas Franz,Alfredo Ramirez,Peter Nürnberg,Markus M. Nöthen,Regina C. Betz +13 more
TL;DR: This study is the first to implicate a G protein–coupled receptor as essential for and specific to the maintenance of human hair growth, and may provide opportunities for new therapeutic approaches to the treatment of hair loss in humans.
Journal ArticleDOI
Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology
Manuel A. R. Ferreira,Judith M. Vonk,Hansjörg Baurecht,Ingo Marenholz,Ingo Marenholz,Chao Tian,Joshua D. Hoffman,Quinta Helmer,Annika Tillander,Vilhelmina Ullemar,Jenny van Dongen,Yi Lu,Franz Rüschendorf,Jorge Esparza-Gordillo,Jorge Esparza-Gordillo,Jorge Esparza-Gordillo,Chris W. Medway,Edward Mountjoy,Kimberley Burrows,Oliver Hummel,Sarah Grosche,Sarah Grosche,Ben Michael Brumpton,Ben Michael Brumpton,John S. Witte,Jouke-Jan Hottenga,Gonneke Willemsen,Jie Zheng,Elke Rodriguez,Melanie Hotze,Andre Franke,Joana A. Revez,Jonathan Beesley,Melanie C. Matheson,Shyamali C. Dharmage,L. Bain,Lars G. Fritsche,Maiken Elvestad Gabrielsen,Brunilda Balliu,Jonas B. Nielsen,Wei Zhou,Kristian Hveem,Arnulf Langhammer,Oddgeir L. Holmen,Mari Løset,Gonçalo R. Abecasis,Gonçalo R. Abecasis,Cristen J. Willer,Andreas Arnold,Georg Homuth,Carsten Oliver Schmidt,Philip J. Thompson,Nicholas G. Martin,David L. Duffy,Natalija Novak,Holger Schulz,Stefan Karrasch,Christian Gieger,Konstantin Strauch,Ronald B. Melles,David A. Hinds,Norbert Hubner,Stephan Weidinger,Patrik K. E. Magnusson,Rick Jansen,Eric Jorgenson,Young-Ae Lee,Young-Ae Lee,Dorret I. Boomsma,Catarina Almqvist,Catarina Almqvist,Robert Karlsson,Gerard H. Koppelman,Lavinia Paternoster +73 more
TL;DR: A genome-wide association study of a broad allergic disease phenotype that considers the presence of any one of these three diseases identified 136 independent risk variants, including 73 not previously reported, which implicate 132 nearby genes in allergic disease pathophysiology.
Journal ArticleDOI
Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.
Ingo Marenholz,Renate Nickel,Franz Rüschendorf,Florian Schulz,Jorge Esparza-Gordillo,Tamara Kerscher,Christoph Grüber,Susanne Lau,Margitta Worm,Thomas Keil,Michael Kurek,Elisabetha Zaluga,Ulrich Wahn,Young-Ae Lee +13 more
TL;DR: The results suggest that the maintenance and repair of the epidermal barrier in infants with eczema may prevent the subsequent development of allergic airways disease.