SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
Dubail, Johanne, Huber, Céline, Chantepie, Sandrine, Sonntag, Stephan, Tüysüz, Beyhan, Mihci, Ercan, Gordon, Christopher T., Steichen-Gersdorf, Elisabeth, Amiel, Jeanne, Nur, Banu, Stolte-Dijkstra, Irene, van Eerde, Albertien M., van Gassen, Koen L., Breugem, Corstiaan C., Stegmann, Alexander, Lekszas, Caroline, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Bruneel, Arnaud, Seta, Nathalie, Munnich, Arnold, Papy-Garcia, Dulce, De La Dure-Molla, Muriel, Cormier-Daire, Valérie
Published in Nature communications (06.08.2018)
Published in Nature communications (06.08.2018)
Get full text
Journal Article
A Distinct Pool of Nav1.5 Channels at the Lateral Membrane of Murine Ventricular Cardiomyocytes
Rougier, Jean-Sébastien, Essers, Maria C., Gillet, Ludovic, Guichard, Sabrina, Sonntag, Stephan, Shmerling, Doron, Abriel, Hugues
Published in Frontiers in physiology (03.07.2019)
Published in Frontiers in physiology (03.07.2019)
Get full text
Journal Article
Testing the Cre-mediated genetic switch for the generation of conditional knock-in mice
Capulli, Mattia, Costantini, Rossella, Sonntag, Stephan, Maurizi, Antonio, Paganini, Chiara, Monti, Luca, Forlino, Antonella, Shmerling, Doron, Teti, Anna, Rossi, Antonio
Published in PloS one (13.03.2019)
Published in PloS one (13.03.2019)
Get full text
Journal Article
neuronal connexin36 interacts with and is phosphorylated by CaMKII in a way similar to CaMKII interaction with glutamate receptors
Alev, Cantas, Urschel, Stephanie, Sonntag, Stephan, Zoidl, Georg, Fort, Alfredo G, Höher, Thorsten, Matsubara, Mamoru, Willecke, Klaus, Spray, David C, Dermietzel, Rolf
Published in Proceedings of the National Academy of Sciences - PNAS (30.12.2008)
Published in Proceedings of the National Academy of Sciences - PNAS (30.12.2008)
Get full text
Journal Article
Cardiac-specific ablation of synapse-associated protein SAP97 in mice decreases potassium currents but not sodium current
Gillet, Ludovic, PhD, Rougier, Jean-Sébastien, PhD, Shy, Diana, MSc, Sonntag, Stephan, PhD, Mougenot, Nathalie, PhD, Essers, Maria, BSc, Shmerling, Doron, PhD, Balse, Elise, PhD, Hatem, Stéphane N., MD, PhD, Abriel, Hugues, MD, PhD
Published in Heart rhythm (2015)
Published in Heart rhythm (2015)
Get full text
Journal Article
Cell-specific cre recombinase expression allows selective ablation of glutamate receptors from mouse horizontal cells
Ströh, Sebastian, Sonntag, Stephan, Janssen-Bienhold, Ulrike, Schultz, Konrad, Cimiotti, Kerstin, Weiler, Reto, Willecke, Klaus, Dedek, Karin
Published in PloS one (12.12.2013)
Published in PloS one (12.12.2013)
Get full text
Journal Article
Gating, permselectivity and pH-dependent modulation of channels formed by connexin57, a major connexin of horizontal cells in the mouse retina
Palacios‐Prado, Nicolas, Sonntag, Stephan, Skeberdis, Vytenis A., Willecke, Klaus, Bukauskas, Feliksas F.
Published in The Journal of physiology (01.07.2009)
Published in The Journal of physiology (01.07.2009)
Get full text
Journal Article
The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice
Schütz, Melanie, Scimemi, Pietro, Majumder, Paromita, De Siati, Romolo Daniele, Crispino, Giulia, Rodriguez, Laura, Bortolozzi, Mario, Santarelli, Rosamaria, Seydel, Anke, Sonntag, Stephan, Ingham, Neil, Steel, Karen P., Willecke, Klaus, Mammano, Fabio
Published in Human molecular genetics (15.12.2010)
Published in Human molecular genetics (15.12.2010)
Get full text
Journal Article
Epigenetic regulation of promiscuous gene expression in thymic medullary epithelial cells
Tykocinski, Lars-Oliver, Sinemus, Anna, Rezavandy, Esmail, Weiland, Yanina, Baddeley, David, Cremer, Christoph, Sonntag, Stephan, Willecke, Klaus, Derbinski, Jens, Kyewski, Bruno, Marrack, Philippa
Published in Proceedings of the National Academy of Sciences - PNAS (09.11.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (09.11.2010)
Get full text
Journal Article
A new conditional mouse mutant reveals specific expression and functions of connexin36 in neurons and pancreatic beta-cells
Wellershaus, Kerstin, Degen, Joachim, Deuchars, Jim, Theis, Martin, Charollais, Anne, Caille, Dorothée, Gauthier, Benoit, Janssen-Bienhold, Ulrike, Sonntag, Stephan, Herrera, Pedro, Meda, Paolo, Willecke, Klaus
Published in Experimental cell research (10.03.2008)
Published in Experimental cell research (10.03.2008)
Get full text
Journal Article
Gnathodiaphyseal dysplasia is not recapitulated in a respective mouse model carrying a mutation of the Ano5 gene
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
Published in Bone Reports (01.06.2020)
Published in Bone Reports (01.06.2020)
Get full text
Journal Article
The TSG101 protein binds to connexins and is involved in connexin degradation
Auth, Tanja, Schlüter, Sharazad, Urschel, Stephanie, Kussmann, Petra, Sonntag, Stephan, Höher, Thorsten, Kreuzberg, Maria M., Dobrowolski, Radoslaw, Willecke, Klaus
Published in Experimental cell research (01.04.2009)
Published in Experimental cell research (01.04.2009)
Get full text
Journal Article
Expression of connexin30.2 in interneurons of the central nervous system in the mouse
Kreuzberg, Maria M., Deuchars, Jim, Weiss, Elisa, Schober, Andreas, Sonntag, Stephan, Wellershaus, Kerstin, Draguhn, Andreas, Willecke, Klaus
Published in Molecular and cellular neuroscience (2008)
Published in Molecular and cellular neuroscience (2008)
Get full text
Journal Article
Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene
Forouhan, Mitra, Sonntag, Stephan, Boot-Handford, Raymond P
Published in Human molecular genetics (15.11.2018)
Published in Human molecular genetics (15.11.2018)
Get full text
Journal Article
CaMKII inhibition due to TRIC-B loss-of-function dysregulates SMAD signaling in osteogenesis imperfecta
Besio, Roberta, Contento, Barbara M., Garibaldi, Nadia, Filibian, Marta, Sonntag, Stephan, Shmerling, Doron, Tonelli, Francesca, Biggiogera, Marco, Brini, Marisa, Salmaso, Andrea, Jovanovic, Milena, Marini, Joan C., Rossi, Antonio, Forlino, Antonella
Published in Matrix biology (01.06.2023)
Published in Matrix biology (01.06.2023)
Get full text
Journal Article
The Lrp4R1170Q Homozygous Knock‐In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans
Boudin, Eveline, Yorgan, Timur, Fijalkowski, Igor, Sonntag, Stephan, Steenackers, Ellen, Hendrickx, Gretl, Peeters, Silke, De Maré, Annelies, Vervaet, Benjamin, Verhulst, Anja, Mortier, Geert, D'Haese, Patrick, Schinke, Thorsten, Van Hul, Wim
Published in Journal of bone and mineral research (01.08.2017)
Published in Journal of bone and mineral research (01.08.2017)
Get full text
Journal Article
The Lrp4 R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans
Boudin, Eveline, Yorgan, Timur, Fijalkowski, Igor, Sonntag, Stephan, Steenackers, Ellen, Hendrickx, Gretl, Peeters, Silke, De Maré, Annelies, Vervaet, Benjamin, Verhulst, Anja, Mortier, Geert, D'Haese, Patrick, Schinke, Thorsten, Van Hul, Wim
Published in Journal of bone and mineral research (01.08.2017)
Published in Journal of bone and mineral research (01.08.2017)
Get full text
Journal Article
A Distinct Pool of Na v 1.5 Channels at the Lateral Membrane of Murine Ventricular Cardiomyocytes
Rougier, Jean-Sébastien, Essers, Maria C, Gillet, Ludovic, Guichard, Sabrina, Sonntag, Stephan, Shmerling, Doron, Abriel, Hugues
Published in Frontiers in physiology (2019)
Get full text
Published in Frontiers in physiology (2019)
Journal Article
Impaired calcium homeostasis is associated with sudden cardiac death and arrhythmias in a genetic equivalent mouse model of the human HRC-Ser96Ala variant
Tzimas, Christos, Johnson, Daniel M, Santiago, Demetrio J, Vafiadaki, Elizabeth, Arvanitis, Demetrios A, Davos, Constantinos H, Varela, Aimilia, Athanasiadis, Nikolaos C, Dimitriou, Constantinos, Katsimpoulas, Michalis, Sonntag, Stephan, Kryzhanovska, Mariya, Shmerling, Doron, Lehnart, Stephan E, Sipido, Karin R, Kranias, Evangelia G, Sanoudou, Despina
Published in Cardiovascular research (01.09.2017)
Published in Cardiovascular research (01.09.2017)
Get full text
Journal Article