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European Journal of Human Genetics : EJHG|March 26, 2015
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataractChristina Evers, Nagarajan Paramasivam, Katrin Hinderhofer, et al.
Human Molecular Genetics|September 23, 2010
Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heartSandra Puskaric, Stefanie Schmitteckert, Alessandro D Mori, et al.
Human Molecular Genetics|February 20, 2014
Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcriptsAndrea J Deutschmann, Albert Amberger, Claudia Zavadil, et al.
The Journal of Biological Chemistry|May 1, 2016
Secreted Frizzled-related Protein 2 (sFRP2) Redirects Non-canonical Wnt Signaling from Fz7 to Ror2 during Vertebrate GastrulationEva-Maria Brinkmann, Benjamin Mattes, Rahul Kumar, et al.
Basic Research in Cardiology|March 5, 2013
Islet1 is a direct transcriptional target of the homeodomain transcription factor Shox2 and rescues the Shox2-mediated bradycardiaSandra Hoffmann, Ina M Berger, Anne Glaser, et al.
Diabetes|July 3, 2007
A CTG polymorphism in the CNDP1 gene determines the secretion of serum carnosinase in Cos-7 transfected cellsEva Riedl, Hannes Koeppel, Paul Brinkkoetter, et al.
BMC Biology|June 3, 2014
Molecular dissection of Wnt3a-Frizzled8 interaction reveals essential and modulatory determinants of Wnt signaling activitySumit Kumar, Mihaela Žigman, Trushar R Patel, et al.
The Journal of Cell Biology|July 3, 2013
The centriolar satellite protein SSX2IP promotes centrosome maturationFelix Bärenz, Daigo Inoue, Hideki Yokoyama, et al.
EMBO Molecular Medicine|January 16, 2010
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survivalKatharina Rauschenberger, Katja Schöler, Jörn Oliver Sass, et al.
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