Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity

по Seifert, Wenke, Kühnisch, Jirko, Maritzen, Tanja, Horn, Denise, Haucke, Volker, Hennies, Hans Christian
Опубликовано 2011

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin

по Osswald Monika, Kossler Nadine, Kühnisch Jirko, Kolanczyk Mateusz, Stumpp Sabine, Thurisch Boris, Kornak Uwe, Mundlos Stefan
Опубликовано 2008-07-01

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin

по Kolanczyk, Mateusz, Kühnisch, Jirko, Kossler, Nadine, Osswald, Monika, Stumpp, Sabine, Thurisch, Boris, Kornak, Uwe, Mundlos, Stefan
Опубликовано 2008

Cohen Syndrome-associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth

по Seifert, Wenke, Kühnisch, Jirko, Maritzen, Tanja, Lommatzsch, Stefanie, Hennies, Hans Christian, Bachmann, Sebastian, Horn, Denise, Haucke, Volker
Опубликовано в: J Biol Chem (2015)

Functional Comparison of Chronological and In Vitro Aging: Differential Role of the Cytoskeleton and Mitochondria in Mesenchymal Stromal Cells

по Geißler, Sven, Textor, Martin, Kühnisch, Jirko, Könnig, Delia, Klein, Oliver, Ode, Andrea, Pfitzner, Tilman, Adjaye, James, Kasper, Grit, Duda, Georg N.
Опубликовано 2012

RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy

по Al‐Wakeel‐Marquard, Nadya, Degener, Franziska, Herbst, Christopher, Kühnisch, Jirko, Dartsch, Josephine, Schmitt, Boris, Kuehne, Titus, Messroghli, Daniel, Berger, Felix, Klaassen, Sabine
Опубликовано в: J Am Heart Assoc (2019)

Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation

по Geissler, Sven, Textor, Martin, Stumpp, Sabine, Seitz, Sebastian, Lekaj, Anja, Brunk, Sabrina, Klaassen, Sabine, Schinke, Thorsten, Klein, Christoph, Mundlos, Stefan, Kornak, Uwe, Kühnisch, Jirko
Опубликовано в: PLoS One (2018)

Mouse models of cystathionine β-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia

по Gupta, Sapna, Kühnisch, Jirko, Mustafa, Aladdin, Lhotak, Sarka, Schlachterman, Alexander, Slifker, Michael J., Klein-Szanto, Andres, High, Katherine A., Austin, Richard C., Kruger, Warren D.
Опубликовано 2009

Neurofibromin (Nf1) is required for skeletal muscle development

по Kossler, Nadine, Stricker, Sigmar, Rödelsperger, Christian, Robinson, Peter N., Kim, Johnny, Dietrich, Carola, Osswald, Monika, Kühnisch, Jirko, Stevenson, David A., Braun, Thomas, Mundlos, Stefan, Kolanczyk, Mateusz
Опубликовано 2011

MIA is a potential biomarker for tumour load in neurofibromatosis type 1

по Kolanczyk, Mateusz, Mautner, Victor, Kossler, Nadine, Nguyen, Rosa, Kühnisch, Jirko, Zemojtel, Tomasz, Jamsheer, Aleksander, Wegener, Eike, Thurisch, Boris, Tinschert, Sigrid, Holtkamp, Nikola, Park, Su-Jin, Birch, Patricia, Kendler, David, Harder, Anja, Mundlos, Stefan, Kluwe, Lan
Опубликовано 2011

Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient

по Kobus, Karolina, Hartl, Daniela, Ott, Claus Eric, Osswald, Monika, Huebner, Angela, von der Hagen, Maja, Emmerich, Denise, Kühnisch, Jirko, Morreau, Hans, Hes, Frederik J., Mautner, Victor F., Harder, Anja, Tinschert, Sigrid, Mundlos, Stefan, Kolanczyk, Mateusz
Опубликовано в: PLoS One (2015)

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

по Emmerich, Denise, Zemojtel, Tomasz, Hecht, Jochen, Krawitz, Peter, Spielmann, Malte, Kühnisch, Jirko, Kobus, Karolina, Osswald, Monika, Heinrich, Verena, Berlien, Peter, Müller, Ute, Mautner, Victor-F, Wimmer, Katharina, Robinson, Peter N, Vingron, Martin, Tinschert, Sigrid, Mundlos, Stefan, Kolanczyk, Mateusz
Опубликовано в: Eur J Hum Genet (2015)

Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene

по Poller, Wolfgang, Haas, Jan, Klingel, Karin, Kühnisch, Jirko, Gast, Martina, Kaya, Ziya, Escher, Felicitas, Kayvanpour, Elham, Degener, Franziska, Opgen‐Rhein, Bernd, Berger, Felix, Mochmann, Hans‐Christian, Skurk, Carsten, Heidecker, Bettina, Schultheiss, Heinz‐Peter, Monserrat, Lorenzo, Meder, Benjamin, Landmesser, Ulf, Klaassen, Sabine
Опубликовано в: J Am Heart Assoc (2020)

Multiscale, Converging Defects of Macro-Porosity, Microstructure and Matrix Mineralization Impact Long Bone Fragility in NF1

по Kühnisch, Jirko, Seto, Jong, Lange, Claudia, Schrof, Susanne, Stumpp, Sabine, Kobus, Karolina, Grohmann, Julia, Kossler, Nadine, Varga, Peter, Osswald, Monika, Emmerich, Denise, Tinschert, Sigrid, Thielemann, Falk, Duda, Georg, Seifert, Wenke, el Khassawna, Thaqif, Stevenson, David A., Elefteriou, Florent, Kornak, Uwe, Raum, Kay, Fratzl, Peter, Mundlos, Stefan, Kolanczyk, Mateusz
Опубликовано 2014

Autosomal Recessive Mental Retardation, Deafness, Ankylosis, and Mild Hypophosphatemia Associated with a Novel ANKH Mutation in a Consanguineous Family

по Morava, Eva, Kühnisch, Jirko, Drijvers, Jefte M., Robben, Joris H., Cremers, Cor, van Setten, Petra, Branten, Amanda, Stumpp, Sabine, de Jong, Alphons, Voesenek, Krysta, Vermeer, Sascha, Heister, Angelien, Claahsen-van der Grinten, Hedi L., O'Neill, Charles W., Willemsen, Michèl A., Lefeber, Dirk, Deen, Peter M. T., Kornak, Uwe, Kremer, Hannie, Wevers, Ron A.
Опубликовано в: J Clin Endocrinol Metab (2011)

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

по Hennies, Hans Christian, Kornak, Uwe, Zhang, Haikuo, Egerer, Johannes, Zhang, Xin, Seifert, Wenke, Kühnisch, Jirko, Budde, Birgit, Nätebus, Marc, Brancati, Francesco, Wilcox, William R., Müller, Dietmar, Kaplan, Paige B., Rajab, Anna, Zampino, Giuseppe, Fodale, Valentina, Dallapiccola, Bruno, Newman, William, Metcalfe, Kay, Clayton-Smith, Jill, Tassabehji, May, Steinmann, Beat, Barr, Francis A., Nürnberg, Peter, Wieacker, Peter, Mundlos, Stefan
Опубликовано 2008