Genomes and Genes
Frank J Kaiser
- SUMOylation modulates transcriptional repression by TRPS1Frank J Kaiser
Institut fur Humangenetik, Universitatsklinikum Essen, D 45122 Essen, Germany
Biol Chem 388:381-90. 2007..These results identify SUMOylation at the TRPS1-RD as a major mechanism that regulates the function of TRPS1...
- The RING finger protein RNF4, a co-regulator of transcription, interacts with the TRPS1 transcription factorFrank J Kaiser
Institut fur Humangenetik, Universitatsklinikum, Hufelandstrasse 55, D 45122 Essen, Germany
J Biol Chem 278:38780-5. 2003..Using a luciferase reporter assay, we could demonstrate that the repressional function of TRPS1 is inhibited by RNF4. This finding suggests that RNF4 is a negative regulator of TRPS1 activity...
- Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signalFrank J Kaiser
Institut fur Humangenetik, Universitatsklinikum, Hufelandstr 55, Essen D 45122, Germany
Eur J Hum Genet 12:121-6. 2004..In contrast, a mutant that lacks the conserved GATA-type zinc-finger domain and most of the LRRRRG motif is able to enter the nucleus...
- Nuclear interaction of the dynein light chain LC8a with the TRPS1 transcription factor suppresses the transcriptional repression activity of TRPS1Frank J Kaiser
Institut fur Humangenetik, Universitatsklinikum, Hufelandstr 55, D 45122 Essen, Germany
Hum Mol Genet 12:1349-58. 2003..In addition, GATA-regulated reporter gene assay indicated that LC8a is able to suppress the transcriptional repression activity of TRPS1...
- Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritanceFrank J Kaiser
Sektion für Funktionelle Genetik am Institut für Humangenetik, Universitat zu Lubeck, Lubeck 23538, Germany
Hum Mol Genet 23:2888-900. 2014..These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS. ..
- Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interactionDiana Braunholz
Institut für Humangenetik Lübeck, Universitat zu Lubeck, Lubeck, Germany
Eur J Hum Genet 20:271-6. 2012..These data suggest that factors in addition to MAU2 are essential in determining the clinical features and severity of CdLS...
- The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modificationsPhilipp Jahnke
Institut fur Humangenetik, Universitat zu Lubeck, 23538 Lubeck, Germany
Nucleic Acids Res 36:6450-8. 2008..Our data are the first to indicate a molecular and functional connection of NIPBL with chromatin-remodeling processes via the direct interaction with histone deacetylases...
- Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizuresKonrad Platzer
Institut fur Humangenetik, Universitat zu Lubeck, Lubeck, Germany
Am J Med Genet A 164:1976-80. 2014....
- Synergistic cooperation of Sall4 and Cyclin D1 in transcriptional repressionJohann Böhm
Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
Biochem Biophys Res Commun 356:773-9. 2007..Furthermore, using luciferase reporter gene assays we demonstrate that Sall4 operates as a transcriptional repressor located to heterochromatin and that this activity is modulated by Cyclin D1...