Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fli-1 is an ETS-domain transcription factor whose locus is disrupted in Ewing's Sarcoma and F-MuLV induced erythroleukaemia. To gain a better understanding of its normal function, we have isolated the zebrafish homologue. Similarities with other vertebrates, in the amino acid sequence and DNA binding properties of Fli-1 from zebrafish, suggest that its function has been conserved during vertebrate evolution. The initial expression of zebrafish fli-1 in the posterior lateral mesoderm overlaps with that of gata2 in a potential haemangioblast population which likely contains precursors of blood and endothelium. Subsequently, fli-1 and gata2 expression patterns diverge, with separate fli-1 and gata2 expression domains arising in the developing vasculature and in sites of blood formation respectively. Elsewhere in the embryo, fli-1 is expressed in sites of vasculogenesis. The expression of fli-1 was investigated in a number of zebrafish mutants, which affect the circulatory system. In cloche, endothelium is absent and blood is drastically reduced. In contrast to the blood and endothelial markers that have been studied previously, fli-1 expression was initiated normally in cloche embryos, indicating that induction of fli-1 is one of the earliest indicators of haemangioblast formation. Furthermore, although fli-1 expression in the trunk was not maintained, the normal expression pattern in the anterior half of the embryo was retained. These anterior cells did not, however, condense to form blood vessels. These data indicate that cloche has previously unsuspected roles at multiple stages in the formation of the vasculature. Analysis of fli-1 expression in midline patterning mutants floating head and squint, confirms a requirement for the notochord in the formation of the dorsal-aorta. The formation of endothelium in one-eyed pinhead, cyclops and squint embryos indicates a novel role for the endoderm in the formation of the axial vein. The phenotype of sonic-you mutants implies a likely role for Sonic Hedgehog in mediating these processes.
 ...
PMID:Insights into early vasculogenesis revealed by expression of the ETS-domain transcription factor Fli-1 in wild-type and mutant zebrafish embryos. 1064 Jul 7

The authors report the clinical manifestations, pathologic character, management, and prognosis of primary orbital Ewing sarcoma, and review pertinent literature. A 6-year-old boy presented with the complaint of abruptly decreasing visual acuity and right proptosis. Computed tomography scan revealed a mass in the region of the right infratemporal orbit with extension into the infratemporal fossa and masseteric space, and there was erosion of the right lateral orbital wall. An anterior orbitotomy eyelid crease was performed to remove the tumor. The tumor cells were positive in membranous pattern for CD99 immunostaining; all other reactions were negative. The EWS-FLI-1 fusion gene was not detected by reverse-transcription polymerase chain reaction. Combined radiotherapy was applied. Primary orbital Ewing sarcoma is an extremely rare malignant tumor that shows a predilection for males (ratio: 1.4 to 1). Appropriate treatment consists of local resection, radiotherapy, and adjunctive chemotherapy.
J Pediatr Ophthalmol Strabismus 2011 Jul 19
PMID:Primary orbital Ewing sarcoma. 2176 39