TGF-β induced senescence is a novel therapeutic target for treating osteoporosis in Gerodermia Osteodysplastica

by Wing Lee Chan, Jonathan Goldes, Magdalena Steiner, Alvin C. Ma, Stefan Mundlos, Uwe Kornak
Published 2020-10-01

High resolution 3D laboratory x-ray tomography data of femora from young, 1–14 day old C57BL/6 mice

by Emely L. Bortel, Georg N. Duda, Stefan Mundlos, Bettina M. Willie, Peter Fratzl, Paul Zaslansky
Published 2015-09-01

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin

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

One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency

by Julia Körholz, Julia Körholz, Anastasia Gabrielyan, John M. Sowerby, John M. Sowerby, Felix Boschann, Lan-Sun Chen, Diana Paul, David Brandt, Janina Kleymann, Martin Kolditz, Nicole Toepfner, Ralf Knöfler, Eva-Maria Jacobsen, Christine Wolf, Karsten Conrad, Nadja Röber, Min Ae Lee-Kirsch, Min Ae Lee-Kirsch, Kenneth G. C. Smith, Kenneth G. C. Smith, Stefan Mundlos, Stefan Mundlos, Stefan Mundlos, Stefan Mundlos, Reinhard Berner, Reinhard Berner, Alexander H. Dalpke, Catharina Schuetz, Catharina Schuetz, William Rae, William Rae
Published 2021-08-01

Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach

by Ewelina M. Olech, Tomasz Zemojtel, Anna Sowińska-Seidler, Peter N. Robinson, Stefan Mundlos, Marek Karczewski, Aleksander Jamsheer
Published 2016-05-01

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

by Horn Denise, Kolanczyk Mateusz, Jamsheer Aleksander, Baasanjav Sevjidmaa, Latos Tomasz, Hoffmann Katrin, Latos-Bielenska Anna, Mundlos Stefan
Published 2010-07-01

Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees.

by Tom Kamphans, Peggy Sabri, Na Zhu, Verena Heinrich, Stefan Mundlos, Peter N Robinson, Dmitri Parkhomchuk, Peter M Krawitz
Published 2013-01-01

Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing

by Mundlos Stefan, Schell Hanna, Hecht Jochen, Grünhagen Johannes, Ott Claus-Eric, Jäger Marten, Duda Georg N, Robinson Peter N, Lienau Jasmin
Published 2011-03-01

Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to the development of osteoarthritis

by Tim Rolvien, Timur A. Yorgan, Uwe Kornak, Irm Hermans-Borgmeyer, Stefan Mundlos, Tobias Schmidt, Andreas Niemeier, Thorsten Schinke, Michael Amling, Ralf Oheim
Published 2020-10-01

GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution

by Peter Hansen, Salaheddine Ali, Hannah Blau, Daniel Danis, Jochen Hecht, Uwe Kornak, Darío G. Lupiáñez, Stefan Mundlos, Robin Steinhaus, Peter N. Robinson
Published 2019-01-01

CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.

by Seval Türkmen, Gao Guo, Masoud Garshasbi, Katrin Hoffmann, Amjad J Alshalah, Claudia Mischung, Andreas Kuss, Nicholas Humphrey, Stefan Mundlos, Peter N Robinson
Published 2009-05-01

Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF.

by Ivana Jerković, Daniel M Ibrahim, Guillaume Andrey, Stefan Haas, Peter Hansen, Catrin Janetzki, Irene González Navarrete, Peter N Robinson, Jochen Hecht, Stefan Mundlos
Published 2017-01-01

MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites.

by Claus Eric Ott, Johannes Grünhagen, Marten Jäger, Daniel Horbelt, Simon Schwill, Klaus Kallenbach, Gao Guo, Thomas Manke, Petra Knaus, Stefan Mundlos, Peter N Robinson
Published 2011-01-01

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

by Sven Geissler, Martin Textor, Sabine Stumpp, Sebastian Seitz, Anja Lekaj, Sabrina Brunk, Sabine Klaassen, Thorsten Schinke, Christoph Klein, Stefan Mundlos, Uwe Kornak, Jirko Kühnisch
Published 2018-01-01

Evolution of a core gene network for skeletogenesis in chordates.

by Jochen Hecht, Sigmar Stricker, Ulrike Wiecha, Asita Stiege, Georgia Panopoulou, Lars Podsiadlowski, Albert J Poustka, Christoph Dieterich, Siegfried Ehrich, Julia Suvorova, Stefan Mundlos, Volkhard Seitz
Published 2008-03-01

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

by Pantel, Jean Tori, Hajjir, Nurulhuda, Danyel, Magdalena, Elsner, Jonas, Abad-Perez, Angela Teresa, Hansen, Peter, Mundlos, Stefan, Spielmann, Malte, Horn, Denise, Ott, Claus-Eric, Mensah, Martin Atta
Published 2020-10-01

A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

by Elisa Degenkolbe, Jana König, Julia Zimmer, Maria Walther, Carsten Reißner, Joachim Nickel, Frank Plöger, Jelena Raspopovic, James Sharpe, Katarina Dathe, Jacqueline T Hecht, Stefan Mundlos, Sandra C Doelken, Petra Seemann
Published 2013-01-01

Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep

by Hecht Jochen, Kuhl Heiner, Haas Stefan A, Bauer Sebastian, Poustka Albert J, Lienau Jasmin, Schell Hanna, Stiege Asita C, Seitz Volkhard, Reinhardt Richard, Duda Georg N, Mundlos Stefan, Robinson Peter N
Published 2006-07-01

Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice

by Katerina Kraft, Sinje Geuer, Anja J. Will, Wing Lee Chan, Christina Paliou, Marina Borschiwer, Izabela Harabula, Lars Wittler, Martin Franke, Daniel M. Ibrahim, Bjørt K. Kragesteen, Malte Spielmann, Stefan Mundlos, Darío G. Lupiáñez, Guillaume Andrey
Published 2015-02-01

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient.

by Karolina Kobus, Daniela Hartl, Claus Eric Ott, Monika Osswald, Angela Huebner, Maja von der Hagen, Denise Emmerich, Jirko Kühnisch, Hans Morreau, Frederik J Hes, Victor F Mautner, Anja Harder, Sigrid Tinschert, Stefan Mundlos, Mateusz Kolanczyk
Published 2015-01-01