Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0312414 (Spotting)
 88 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The c-kit receptor and its recently identified ligand are allelic with the murine White Spotting and Steel loci, respectively. These observations brought to light the functions of the c-kit receptor system in melanogenesis, gametogenesis and hematopoeisis during embryogenesis and in postnatal life. The recent molecular analysis of several White Spotting and Steel alleles has provided insights into the mechanism of c-kit ligand-mediated processes, including cell proliferation, cell migration and cell survival. Furthermore, the availability of the kit ligand has allowed in vitro investigations of the pleiotropic functions of c-kit in development and cell differentiation to be carried out.
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PMID:The kit ligand encoded at the murine Steel locus: a pleiotropic growth and differentiation factor. 172 43

Mouse strains carrying mutations at the Dominant White Spotting (W) locus or the Steel (Sl) locus are anemic and display defects in pigmentation and gametogenesis. In W mutants the anemia is due to a deficiency of hemopoietic stem cells and, in Sl mutants, to a deficiency of supporting stromal cells in the bone marrow. The W locus encodes the c-kit proto-oncogene product, a cell surface receptor with protein-tyrosine kinase activity, and the Sl locus encodes its ligand, a hemopoietic cytokine known variously as Steel factor (SLF), mast cell growth factor, stem cell factor, and Kit ligand. SLF can synergize with a number of other cytokines to stimulate growth of hemopoietic progenitors in vitro and stimulates blood cell production in vivo in animals. Here we review the biological activities of SLF, with particular emphasis on its effects on hemopoietic stem and progenitor cells. We also discuss present knowledge of the molecules involved in SLF-triggered signal transduction, and speculate on potential therapeutic applications for SLF in human disease.
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PMID:The kit receptor and its ligand, steel factor, as regulators of hemopoiesis. 172 56

Mutations within the Steel and Dominant Spotting loci of mice have led to the recent identification of a growth factor/receptor system required for the normal development of germ cells, pigment cells and hematopoietic cells. Interactions between the products of these genes, Steel factor and c-Kit respectively, have now been demonstrated to influence various developmental processes, including survival, proliferation, and/or differentiation of cells in a tissue specific manner. In addition, our current understanding of the molecular basis of various Steel and Dominant Spotting alleles coupled with the emerging information on the expression pattern of steel factor and c-kit transcripts during development, is now beginning to explain the pleiotropic affects of these mutations.
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PMID:Steel factor and c-kit receptor: from mutants to a growth factor system. 768 13