Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

по Basmanav, F. Buket, Oprisoreanu, Ana-Maria, Pasternack, Sandra M., Thiele, Holger, Fritz, Günter, Wenzel, Jörg, Größer, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina, Bygum, Anette, Altmüller, Janine, Rütten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nürnberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra, Betz, Regina C.
Опубликовано 2014

Altered Notch signaling in Dowling-Degos disease: Additional mutations in POGLUT1 and further insights into disease pathogenesis

по Ralser, Damian J., Takeuchi, Hideyuki, Fritz, Günter, Basmanav, F. Buket, Effern, Maike, Sivalingam, Sugirthan, El-Shabrawi-Caelen, Laila, Degirmentepe, Ece N., Kocatürk, Emek, Singh, Manuraj, Booken, Nina, Spierings, Natalia M. K., Schnabel, Viktor, Heineke, Andre, Knuever, Jana, Wolf, Sabrina, Wehner, Maria, Tronnier, Michael, Leverkus, Martin, Tantcheva-Poór, Iliana, Wenzel, Jörg, Oji, Vinzenz, Has, Cristina, Hölzel, Michael, Frank, Jorge, Haltiwanger, Robert S., Betz, Regina C.
Опубликовано в: J Invest Dermatol (2018)

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

по Ü. Basmanav, F. Buket, Cau, Laura, Tafazzoli, Aylar, Méchin, Marie-Claire, Wolf, Sabrina, Romano, Maria Teresa, Valentin, Frederic, Wiegmann, Henning, Huchenq, Anne, Kandil, Rima, Garcia Bartels, Natalie, Kilic, Arzu, George, Susannah, Ralser, Damian J., Bergner, Stefan, Ferguson, David J.P., Oprisoreanu, Ana-Maria, Wehner, Maria, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Swan, Daniel, Houniet, Darren, Büchner, Aline, Weibel, Lisa, Wagner, Nicola, Grimalt, Ramon, Bygum, Anette, Serre, Guy, Blume-Peytavi, Ulrike, Sprecher, Eli, Schoch, Susanne, Oji, Vinzenz, Hamm, Henning, Farrant, Paul, Simon, Michel, Betz, Regina C.
Опубликовано в: Am J Hum Genet (2016)