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American Journal of Medical Genetics. Part A|July 29, 2003
Antenatal onset of cortical hyperostosis (Caffey disease): case report and reviewSusann Schweiger, Rabih Chaoui, Cornelia Tennstedt, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 11, 2011
Control of mTORC1 signaling by the Opitz syndrome protein MID1Enbo Liu, Christine A Knutzen, Sybille Krauss, et al.
BMC Molecular Biology|November 17, 2007
Alternative polyadenylation signals and promoters act in concert to control tissue-specific expression of the Opitz Syndrome gene MID1Jennifer Winter, Melanie Kunath, Stefan Roepcke, et al.
Plos One|October 25, 2008
Active transport of the ubiquitin ligase MID1 along the microtubules is regulated by protein phosphatase 2ABeatriz Aranda-Orgillés, Johanna Aigner, Melanie Kunath, et al.
Investigative Ophthalmology & Visual Science|September 26, 2003
NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface proteinChristina Zeitz, Harry Scherthan, Susanne Freier, et al.
Plos One|July 24, 2008
Comparative 3'UTR analysis allows identification of regulatory clusters that drive Eph/ephrin expression in cancer cell linesJennifer Winter, Stefan Roepcke, Sven Krause, et al.
International Journal of Molecular Sciences|July 2, 2021
mTOR Driven Gene Transcription Is Required for Cholesterol Production in Neurons of the Developing Cerebral CortexMartin Schüle, Tamer Butto, Sri Dewi, et al.
BMC Neurology|May 3, 2019
18F-FDG PET/CT: an unexpected case of Huntington's diseaseSebastian Michels, Hans-Georg Buchholz, Florian Rosar, et al.
The Journal of Biological Chemistry|October 4, 2014
The E3 ubiquitin ligase MID1 catalyzes ubiquitination and cleavage of FuSusann Schweiger, Stephanie Dorn, Melanie Fuchs, et al.
Clinical Epigenetics|August 2, 2024
A case of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencingLaura Holthöfer, Stefan Diederich, Verena Haug, et al.
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