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Germline mutations that give rise to premature termination codons in mRNAs have frequently been associated with aberrant processing of the nascent transcripts. This can take the form either of nonsense‐mediated mRNA decay or of aberrant splicing of the pre‐mRNA. In a family affected by...
We applied the differential mRNA display method to isolate genes regulated by wild‐type TP53 in cells of a colon‐cancer line (SW480) in which we had established an inducible TP53 expression system under the control of the lactose operon. Here we report isolation and characterization of a...
Spectral karyotyping (SKY) is a new molecular cytogenetic technique that allows simultaneous visualization of each chromosome in a different color. We have used SKY for comprehensive analysis of 20 myelodysplastic syndromes (MDSs) (13 primary MDSs, 3 therapy‐related MDSs, and 4 acute leukemias...
We have isolated the 3′ BCR breakpoint junction of a complex BCR‐ABL1 rearrangement found in leukemic cells with a cytogenetically normal karyotype, and the corresponding germline fragment that spanned the 3′ BCR recombination site. Fluorescence in situ hybridization localized the 3′ BCR...
Rhabdomyosarcomas are a heterogeneous group of malignant tumors and are the most common soft‐tissue sarcoma of childhood. Rhabdomyosarcomas resemble developing skeletal muscle, notably in their expression of the MRF family of transcription factors and the PAX3 and PAX7 genes. These PAX genes...
Gain of 20q has been observed in many cancer types, including bladder cancers. However, the biological significance of low‐copy‐number 20q gain in human cancer pathogenesis has not yet been defined. We reported that immortalization of human uroepithelial cells (HUC) transformed with human...
Chromosome banding analysis of 11 short‐term cultured gallbladder carcinomas revealed acquired clonal aberrations in seven tumors (five primary and two metastases). Three of these had one clone, whereas the remaining four were cytogenetically heterogeneous, displaying two to seven aberrant...
Epidemiological studies have shown an increased risk of breast cancer in obligate ataxia telangiectasia (A‐T) heterozygotes. We analyzed 100 samples from young breast cancer patients for mutations in ataxia‐telangiectasia mutated (ATM), the gene responsible for the autosomal recessive...
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