The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity

por Goyal, Manisha, Singh, Ankur, Kornak, Uwe, Kapoor, Seema
Publicado 2015

Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome

por Rolvien, Tim, Kornak, Uwe, Linke, Stephan J., Amling, Michael, Oheim, Ralf
Publicado 2020

Metabolic cutis laxa syndromes

por Mohamed, Miski, Kouwenberg, Dorus, Gardeitchik, Thatjana, Kornak, Uwe, Wevers, Ron A., Morava, Eva
Publicado 2011

Chondrocytes From Osteoarthritic and Chondrocalcinosis Cartilage Represent Different Phenotypes

por Meyer, Franziska, Dittmann, Annalena, Kornak, Uwe, Herbster, Maria, Pap, Thomas, Lohmann, Christoph H., Bertrand, Jessica
Publicado 2021

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 2008

Dissecting the influence of cellular senescence on cell mechanics and extracellular matrix formation in vitro

por Brauer, Erik, Lange, Tobias, Keller, Daniela, Görlitz, Sophie, Cho, Simone, Keye, Jacqueline, Gossen, Manfred, Petersen, Ansgar, Kornak, Uwe
Publicado 2022

Assessment of Bones Deficient in Fibrillin-1 Microfibrils Reveals Pronounced Sex Differences

por Altinbas, Lukas, Bormann, Nicole, Lehmann, Daniel, Jeuthe, Sarah, Wulsten, Dag, Kornak, Uwe, Robinson, Peter N., Wildemann, Britt, Kararigas, Georgios
Publicado 2019

Early‐Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen

por Costantini, Alice, Mäkitie, Riikka E., Hartmann, Markus A., Fratzl‐Zelman, Nadja, Zillikens, M. Carola, Kornak, Uwe, Søe, Kent, Mäkitie, Outi
Publicado 2022

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

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

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

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

Gnathodiaphyseal dysplasia is not recapitulated in a respective mouse model carrying a mutation of the Ano5 gene

por Rolvien, Tim, Avci, Osman, von Kroge, Simon, Koehne, Till, Selbert, Stefan, Sonntag, Stephan, Shmerling, Doron, Kornak, Uwe, Oheim, Ralf, Amling, Michael, Schinke, Thorsten, Yorgan, Timur Alexander
Publicado 2020

CRISPR-Cas9-Edited Tacrolimus-Resistant Antiviral T Cells for Advanced Adoptive Immunotherapy in Transplant Recipients

por Amini, Leila, Wagner, Dimitrios Laurin, Rössler, Uta, Zarrinrad, Ghazaleh, Wagner, Livia Felicitas, Vollmer, Tino, Wendering, Désirée Jacqueline, Kornak, Uwe, Volk, Hans-Dieter, Reinke, Petra, Schmueck-Henneresse, Michael
Publicado 2021

Sost deficiency led to a greater cortical bone formation response to mechanical loading and altered gene expression

por Pflanz, David, Birkhold, Annette I., Albiol, Laia, Thiele, Tobias, Julien, Catherine, Seliger, Anne, Thomson, Erin, Kramer, Ina, Kneissel, Michaela, Duda, Georg N., Kornak, Uwe, Checa, Sara, Willie, Bettina M.
Publicado 2017

VarFish: comprehensive DNA variant analysis for diagnostics and research

por Holtgrewe, Manuel, Stolpe, Oliver, Nieminen, Mikko, Mundlos, Stefan, Knaus, Alexej, Kornak, Uwe, Seelow, Dominik, Segebrecht, Lara, Spielmann, Malte, Fischer-Zirnsak, Björn, Boschann, Felix, Scholl, Ute, Ehmke, Nadja, Beule, Dieter
Publicado 2020

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

por Piard, Juliette, Lespinasse, James, Vlckova, Marketa, Mensah, Martin A., Iurian, Sorin, Simandlova, Martina, Malikova, Marcela, Bartsch, Oliver, Rossi, Massimiliano, Lenoir, Marion, Nugues, Frédérique, Mundlos, Stefan, Kornak, Uwe, Stanier, Philip, Sousa, Sérgio B., Van Maldergem, Lionel
Publicado 2018

TFE3 activation in a TSC1‐altered malignant PEComa: challenging the dichotomy of the underlying pathogenic mechanisms

por Schmiester, Maren, Dolnik, Anna, Kornak, Uwe, Pfitzner, Berit, Hummel, Michael, Treue, Denise, Hartmann, Arndt, Agaimy, Abbas, Weyerer, Veronika, Lekaj, Anja, Brakemeier, Susanne, Peters, Robert, Öllinger, Robert, Märdian, Sven, Bullinger, Lars, Striefler, Jana Käthe, Flörcken, Anne
Publicado 2020

Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive

por Vogt, Guido, Verheyen, Sarah, Schwartzmann, Sarina, Ehmke, Nadja, Potratz, Cornelia, Schwerin-Nagel, Anette, Plecko, Barbara, Holtgrewe, Manuel, Seelow, Dominik, Blatterer, Jasmin, Speicher, Michael R, Kornak, Uwe, Horn, Denise, Mundlos, Stefan, Fischer-Zirnsak, Björn, Boschann, Felix
Publicado 2022

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

por Vogt, Guido, El Choubassi, Naji, Herczegfalvi, Ágnes, Kölbel, Heike, Lekaj, Anja, Schara, Ulrike, Holtgrewe, Manuel, Krause, Sabine, Horvath, Rita, Schuelke, Markus, Hübner, Christoph, Mundlos, Stefan, Roos, Andreas, Lochmüller, Hanns, Karcagi, Veronika, Kornak, Uwe, Fischer‐Zirnsak, Björn
Publicado 2021

Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency

por Oheim, Ralf, Zimmerman, Kristin, Maulding, Nathan D, Stürznickel, Julian, von Kroge, Simon, Kavanagh, Dillon, Stabach, Paul R, Kornak, Uwe, Tommasini, Steven M, Horowitz, Mark C, Amling, Michael, Thompson, David, Schinke, Thorsten, Busse, Björn, Carpenter, Thomas O., Braddock, Demetrios T
Publicado 2019

GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation

por Witkos, Tomasz M., Chan, Wing Lee, Joensuu, Merja, Rhiel, Manuel, Pallister, Ed, Thomas-Oates, Jane, Mould, A. Paul, Mironov, Alex A., Biot, Christophe, Guerardel, Yann, Morelle, Willy, Ungar, Daniel, Wieland, Felix T., Jokitalo, Eija, Tassabehji, May, Kornak, Uwe, Lowe, Martin
Publicado 2019