Rap1A-Deficient T and B Cells Show Impaired Integrin-Mediated Cell Adhesion

Por Duchniewicz, Marlena, Zemojtel, Tomasz, Kolanczyk, Mateusz, Grossmann, Steffen, Scheele, Jürgen S., Zwartkruis, Fried J. T.
Publicado em 2006

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin

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

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin

Por Kolanczyk, Mateusz, Kühnisch, Jirko, Kossler, Nadine, Osswald, Monika, Stumpp, Sabine, Thurisch, Boris, Kornak, Uwe, Mundlos, Stefan
Publicado em 2008

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family

Por Baasanjav, Sevjidmaa, Jamsheer, Aleksander, Kolanczyk, Mateusz, Horn, Denise, Latos, Tomasz, Hoffmann, Katrin, Latos-Bielenska, Anna, Mundlos, Stefan
Publicado em 2010

Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions

Por Rödelsperger, Christian, Guo, Gao, Kolanczyk, Mateusz, Pletschacher, Angelika, Köhler, Sebastian, Bauer, Sebastian, Schulz, Marcel H., Robinson, Peter N.
Publicado em 2011

Neurofibromin (Nf1) is required for skeletal muscle development

Por 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
Publicado em 2011

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Por Kolanczyk, Mateusz, Krawitz, Peter, Hecht, Jochen, Hupalowska, Anna, Miaczynska, Marta, Marschner, Katrin, Schlack, Claire, Emmerich, Denise, Kobus, Karolina, Kornak, Uwe, Robinson, Peter N, Plecko, Barbara, Grangl, Gernot, Uhrig, Sabine, Mundlos, Stefan, Horn, Denise
Publicado no Eur J Hum Genet (2015)

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Por Kolanczyk, Mateusz, Krawitz, Peter, Hecht, Jochen, Hupalowska, Anna, Miaczynska, Marta, Marschner, Katrin, Schlack, Claire, Emmerich, Denise, Kobus, Karolina, Kornak, Uwe, Robinson, Peter N, Plecko, Barbara, Grangl, Gernot, Uhrig, Sabine, Mundlos, Stefan, Horn, Denise
Publicado no Eur J Hum Genet (2015)

PBX1 is dispensable for neural commitment of RA-treated murine ES cells

Por Jürgens, Anne S., Kolanczyk, Mateusz, Moebest, Dietrich C. C., Zemojtel, Tomasz, Lichtenauer, Urs, Duchniewicz, Marlena, Gantert, Melanie P., Hecht, Jochen, Hattenhorst, Uwe, Burdach, Stefan, Dorn, Annette, Kamps, Mark P., Beuschlein, Felix, Räpple, Daniel, Scheele, Jürgen S.
Publicado em 2009

NF1 is a critical regulator of muscle development and metabolism

Por Sullivan, Kate, El-Hoss, Jad, Quinlan, Kate G.R., Deo, Nikita, Garton, Fleur, Seto, Jane T.C., Gdalevitch, Marie, Turner, Nigel, Cooney, Gregory J., Kolanczyk, Mateusz, North, Kathryn N., Little, David G., Schindeler, Aaron
Publicado em 2014

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

Por 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
Publicado em 2011

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

Por 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
Publicado no PLoS One (2015)

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

Por 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
Publicado no Eur J Hum Genet (2015)

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

Por 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
Publicado em 2014

NOA1 is an essential GTPase required for mitochondrial protein synthesis

Por Kolanczyk, Mateusz, Pech, Markus, Zemojtel, Tomasz, Yamamoto, Hiroshi, Mikula, Ivan, Calvaruso, Maria-Antonietta, van den Brand, Mariël, Richter, Ricarda, Fischer, Bjoern, Ritz, Anita, Kossler, Nadine, Thurisch, Boris, Spoerle, Ralf, Smeitink, Jan, Kornak, Uwe, Chan, Danny, Vingron, Martin, Martasek, Pavel, Lightowlers, Robert N., Nijtmans, Leo, Schuelke, Markus, Nierhaus, Knud H., Mundlos, Stefan
Publicado em 2011