Genomes and Genes
Affiliation: Cleveland Clinic Foundation
- Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- miceClemencia Colmenares
Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
Nat Genet 30:106-9. 2002..3 and is deleted in all of the individuals tested so far who have this syndrome. Thus, SKI may contribute to some of the phenotypes common in 1p36 deletion syndrome, and particularly to facial clefting...
- Ocular abnormalities in mice lacking the Ski proto-oncogenePeter McGannon
Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland, OH 44195, USA
Invest Ophthalmol Vis Sci 47:4231-7. 2006..This study involved a novel mouse model of PHPV, generated by a null mutation of the Ski proto-oncogene, that displays other anterior segment and retinal malformations often found in human cases of PHPV...
- Parallel changes in metabolite and expression profiles in crooked-tail mutant and folate-reduced wild-type miceSheila Ernest
Department of Genetics, Center for Computational Genomics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA
Hum Mol Genet 15:3387-93. 2006..These results raise the possibility of using metabolite and expression profiles to distinguish folate-responsive and resistance adult females who are at risk for bearing fetuses with an NTD...
- Genetic and molecular control of folate-homocysteine metabolism in mutant miceSheila Ernest
Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, 10900 Euclid Avenue, Cleveland, OH 44106, USA
Mamm Genome 13:259-67. 2002..These results begin to unravel the complex relations between elevation of a single amino acid in the blood and the diverse birth defects and adult diseases associated with hyperhomocysteinemia...
- Organogenesis relies on SoxC transcription factors for the survival of neural and mesenchymal progenitorsPallavi Bhattaram
Department of Cell Biology, and Orthopaedic and Rheumatologic Research Center, Cleveland Clinic Lerner Research Institute, Cleveland, Ohio 44195, USA
Nat Commun 1:9. 2010..SoxC genes therefore ensure neural and mesenchymal progenitor cell survival, and function in part by activating this transcriptional mediator of the Hippo signalling pathway...
- Ski is involved in transcriptional regulation by the repressor and full-length forms of Gli3Ping Dai
Laboratory of Molecular Genetics, RIKEN Tsukuba Institute, Ibaraki, Japan
Genes Dev 16:2843-8. 2002..Furthermore, a Ski mutation enhanced the digit abnormalities caused by the Gli3 gene mutation. Thus, Ski plays an important role in pattern formation...
- SKI activates Wnt/beta-catenin signaling in human melanomaDahu Chen
Huffington Center on Aging and Departments of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas 77030, USA
Cancer Res 63:6626-34. 2003..Taken together, these results suggest that by targeting members of the tumor growth factor beta and beta-catenin pathways, SKI regulates crucial events required for melanoma growth, survival, and invasion...
- The protooncogene Ski controls Schwann cell proliferation and myelinationSuzana Atanasoski
Institute of Cell Biology, Department of Biology, Swiss Federal Institute of Technology, ETH Honggerberg, Zurich, Switzerland
Neuron 43:499-511. 2004..The myelination-regulating transcription factor Oct6 is involved in a complex modulatory relationship with Ski. We conclude that Ski is a crucial signal in Schwann cell development and myelination...
- SKI-Regulated Networks in Facial and Skull DefectsClemencia Colmenares; Fiscal Year: 2006..These studies will contribute to our understanding of the gene regulatory networks that control craniofacial development, and of how disruption of these networks result in craniofacial defects. [unreadable] [unreadable]..