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• W2134269380 startingPage "1169" @default.
• W2134269380 abstract "Molecular cloning of the breakpoints of a t(1;10)(p22q21) constitutional translocation breakpoint in a patient with stage 4S neuroblastoma has identified two genes which are fused in-frame to generate a novel gene. The 1p22 gene, which we have called NB4S , encodes a 7.5 kb transcript with an 810 amino acid open reading frame and is expressed in a wide variety of tissues. NB4S has >88% homology with the mouse EVI -5 gene within the coding region and shows strong homology over a 200 amino acid region with TBC1 box motif genes involved in cell growth and differentiation. The C-teminal end of the protein contains a number of coiled coil domains, indicating a possible protein-protein binding function. The chromosome 10 breakpoint interrupts a novel transcript (TRNG10) which could only be detected in tumor cells. This transcript has no exon/intron structure or significant open reading frame, suggesting that it is a structural RNA which is transcribed but not translated. The chromosome rearrangement creates a fusion gene product which combines the TBC1 motif of NB4S with a polyadenylation signal from TRNG10 , potentially generating a truncated protein with oncogenic properties." @default.
• W2134269380 created "2016-06-24" @default.
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• W2134269380 date "1998-07-01" @default.
• W2134269380 modified "2023-10-12" @default.
• W2134269380 title "NB4S, a Member of the TBC1 Domain Family of Genes, is Truncated as a Result of a Constitutional t(1;10)(p22;q21) Chromosome Translocation in a Patient with Stage 4S Neuroblastoma" @default.
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• W2134269380 doi "https://doi.org/10.1093/hmg/7.7.1169" @default.
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