Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability

by Bernt Popp, Abbas Agaimy, Cornelia Kraus, Karl X. Knaup, Arif B. Ekici, Steffen Uebe, André Reis, Michael Wiesener, Christiane Zweier
Published 2019-05-01

Renal tubular HIF-2α expression requires VHL inactivation and causes fibrosis and cysts.

by Ruth E Schietke, Thomas Hackenbeck, Maxine Tran, Regina Günther, Bernd Klanke, Christina L Warnecke, Karl X Knaup, Deepa Shukla, Christian Rosenberger, Robert Koesters, Sebastian Bachmann, Peter Betz, Gunnar Schley, Johannes Schödel, Carsten Willam, Thomas Winkler, Kerstin Amann, Kai-Uwe Eckardt, Patrick Maxwell, Michael S Wiesener
Published 2012-01-01

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

by Dov Tiosano, Hagit N Baris, Anlu Chen, Marrit M Hitzert, Markus Schueler, Federico Gulluni, Antje Wiesener, Antonio Bergua, Adi Mory, Brett Copeland, Joseph G Gleeson, Patrick Rump, Hester van Meer, Deborah A Sival, Volker Haucke, Josh Kriwinsky, Karl X Knaup, André Reis, André Reis, Nadine N Hauer, Emilio Hirsch, Ronald Roepman, Rolph Pfundt, Christian T Thiel, Michael S Wiesener, Mariam G Aslanyan, David A Buchner
Published 2019-04-01