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Uta Francke

Researcher at Stanford University

Publications -  475
Citations -  49980

Uta Francke is an academic researcher from Stanford University. The author has contributed to research in topics: Gene & Gene mapping. The author has an hindex of 108, co-authored 475 publications receiving 48481 citations. Previous affiliations of Uta Francke include McGill University & University of North Carolina at Chapel Hill.

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

TL;DR: This study reports the first disease-causing mutations in RTT and points to abnormal epigenetic regulation as the mechanism underlying the pathogenesis of RTT.
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Tyrosine kinase receptor with extensive homology to EGF receptor shares chromosomal location with neu oncogene.

TL;DR: A novel potential cell surface receptor of the tyrosine kinase gene family has been identified and characterized by molecular cloning and its primary sequence is very similar to that of the human epidermal growth factor receptor and the v-erbB oncogene product.
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Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand.

TL;DR: The results suggest that p145c‐kit functions as a cell surface receptor for an as yet unidentified ligand, and carboxy‐ and amino‐terminal truncations that occurred during the viral transduction process are likely to have generated the transformation potential of v‐kit.
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Structure of the receptor for platelet-derived growth factor helps define a family of closely related growth factor receptors

TL;DR: The primary structure of the receptor for platelet-derived growth factor (PDGF), determined by means of cloning a cDNA that encodes the murine pre-PDGF receptor, is closely related to that of the v-kit oncogene product and the receptors for macrophage colony stimulating factor (CSF-1).
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Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways.

TL;DR: A new family of protein kinase C-related genes has been identified in bovine, human, and rat genomes that are highly homologous, include a kinase domain, and potential calcium-binding sites, and they contain interspersed variable regions.