Genomes and Genes
Frank J Kaiser
- 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...
- 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...
- 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...