Selected Publications

You are here:

Selected Publications

Murat Torgutalp, Cemla Durmaz, Halil Karabulut, Wenke Seifert, Denise Horn,  Akkaya Z., Turgay T: Primary hypertrophic osteoarthropathy mimicking juvenile idiopathic arthritis: a novel SLCO2A1 mutation and imaging findings. Cytogenetics and Genome Research. 2019 Jun 15. [Epub ahead of print].

 

Wenke Seifert, York Posor, Peter Schu, Gudrun Stenbeck, Stefan Mundlos, Sabine Klaassen, Peter Nürnberg, Volker Haucke, Uwe Kornak, Jirko Kühnisch: The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface. Human Molecular Genetics 07/2016,25(17):3836-3848.

 

Wenke Seifert, Jirko Kühnisch, Tanja Maritzen, Stefanie Lommatzsch, Hans Christian Hennies, Sebastian Bachmann, Denise Horn, Volker Haucke: Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. Journal of Biological Chemistry 02/2015;290(6):3349-58.

 

Christin Dathe, Anna Lena Daigeler, Wenke Seifert, Vera Jankowski, Ralf Mrowka, Ronny Kalis, Erich Wanker, Kerim Mutig, Sebastian Bachmann, Alexander Paliege: Annexin A2 mediates apical transport of renal Na+-K+-2Cl--cotransporter. Journal of Biological Chemistry 04/2014; 289(14):9983-97.

 

Jirko Kühnisch, Jong Seto, Claudia Lange, Susanne Schrof, Sabine Stumpp, Karolina Kobus, Julia Grohmann, Nadine Kossler, Peter Varga, Monika Osswald, Denise Emmerich, Sigrid Tinschert, Falk Thielemann, Georg Duda, Wenke Seifert, Thaqif El Khassawna, David A Stevenson, Florent Elefteriou, Uwe Kornak, Kay Raum, Peter Fratzl, Stefan Mundlos, Mateusz Kolanczyk: Multiscale, Converging Defects of Macro-Porosity, Microstructure and Matrix Mineralization Impact Long Bone Fragility in NF1. PLoS ONE 01/2014; 9(1):e86115.

 

Wenke Seifert, Peter Meinecke, Gabriele Krüger, Eva Rossier, Wolfram Heinritz, Achim Wüsthof, Denise Horn: Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. BMC medical Genetics 11/2014; 15(1):127.

 

Florian Muhn, Eva Klopocki, Luitgrad Graul-Neumann, Sabine Uhrig, Alison Colley, Marco Castori, Erwin Lankes, Wolfram Henn, Ursula Gruber-Sedlmayr, Wenke Seifert, Denise Horn: Novel mutations of the PRKAR1A gene in patients with acrodysostosis. Clinical Genetics 12/2013; 84(6):531-8.

 

Wenke Seifert*, Jirko Kühnisch*, Beyhan Tüysüz, Christof Specker, Ad Brouwers, Denise Horn: Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. Human Mutation 02/2012; 33(4):660-4. *contributed equally

 

Wenke Seifert, Jirko Kühnisch, Tanja Maritzen, Denise Horn, Volker Haucke, Hans Christian Hennies: Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. Journal of Biological Chemistry 08/2011; 286(43):37665-75.

 

Denise Horn, Johannes Kapeller, Núria Rivera-Brugués, Ute Moog, Bettina Lorenz-Depiereux, Sebastian Eck, Maja Hempel, Janine Wagenstaller, Alex Gawthrope, Anthony P Monaco, Michael Bonin, Olaf Riess, Eva Wohlleber, Thomas Illig, Connie R Bezzina, Andre Franke, Stephanie Spranger, Pablo Villavicencio-Lorini, Wenke Seifert, Jochen Rosenfeld, Eva Klopocki, Gudrun A Rappold, Tim M Strom: Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Human Mutation 11/2010; 31(11):E1851-60.

 

Wenke Seifert*, Julia Beninde*, Katrin Hoffmann, Tom H Lindner, Christian Bassir, Fuat Aksu, Christoph Hübner, Nienke E Verbeek, Stefan Mundlos, Denise Horn: HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing. European Journal of Human Genetics: EJHG 08/2009; 17(12):1570-6. *contributed equally

 

Udo zur Stadt, Jan Rohr, Wenke Seifert, Florian Koch, Samantha Grieve, Julia Pagel, Julia Strauss, Brigitte Kasper, Gudrun Nürnberg, Christian Becker, Andrea Maul-Pavicic, Karin Beutel, Gritta Janka, Gillian Griffiths, Stephan Ehl, Hans Christian Hennies: Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. The American Journal of Human Genetics 10/2009; 85(4):482-92.

 

Hans Christian Hennies, Uwe Kornak, Haikuo Zhang, Johannes Egerer, Xin Zhang, Wenke Seifert, Jirko Kühnisch, Birgit Budde, Marc Nätebus, Francesco Brancati, William R Wilcox, Dietmar Müller, Paige B Kaplan, Anna Rajab, Giuseppe Zampino, Valentina Fodale, Bruno Dallapiccola, William Newman, Kay Metcalfe, Jill Clayton-Smith, May Tassabehji, Beat Steinmann, Francis A Barr, Peter Nürnberg, Peter Wieacker, Stefan Mundlos: Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nature Genetics 01/2009; 40(12):1410-2.

 

Wenke Seifert, Muriel Holder-Espinasse, Jirko Kühnisch, Kimia Kahrizi, Andreas Tzschach, Masoud Garshasbi, Hossein Najmabadi, Andreas Walter Kuss, Wolfram Kress, Geneviève Laureys, Bart Loeys, Eva Brilstra, Grazia M.S. Mancini, Hélène Dollfus, Karin Dahan, Kira Apse, Hans Christian Hennies, Denise Horn: Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Human Mutation 11/2008; 30(2):E404 - E420.

 

Wenke Seifert, Muriel Holder-Espinasse, Stephanie Spranger, M Hoeltzenbein, Eva Rossier, Hélène Dollfus, Didier Lacombe, Alain Verloes, Krystyna H Chrzanowska, Gustavo HB Maegawa, David Chitayat, Dieter Kotzot, Dagmar Huhle, Peter Meinecke, Beate Albrecht, Irene Mathijssen, Bruno Leheup, Klemens Raile, Hans Christian Hennies, Denise Horn: Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. Journal of Medical Genetics 06/2006; 43(5):e22.

 

Hans Christian Hennies, Anita Rauch, Wenke Seifert, Christian Schumi, Elisabeth Moser, Eva Al-Taji, Gholamali Tariverdian, Krystyna H Chrzanowska, Malgorzata Krajewska-Walasek, Anna Rajab, Roberto Giugliani, Thomas E Neumann, Katja M Eckl, Mohsen Karbasiyan, André Reis, Denise Horn: Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. The American Journal of Human Genetics 08/2004; 75(1):138-45.