Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033036 (APC)
 10,214 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Akin to the HMGI-C rearrangements observed in benign solid tumors with 12q14-15 abnormalities, the HMGI(Y) gene has been assumed to play a crucial role in tumors with 6p21 abnormalities. Fluorescence in situ hybridization (FISH) studies using a PAC clone containing the HMGI(Y) gene as a molecular probe have been performed on a cell line from a uterine leiomyoma with a complex translocation involving chromosomal band 6p21.3. The results revealed that the breakpoint mapped within the PAC clone as reflected by signals on the normal chromosome 6 and both derivative chromosomes 1 and 14. Thus, the breakpoint was located within the HMGI(Y) gene or its close vicinity. These findings support the idea that HMGI(Y) rearrangements are causally related to the origin of uterine leiomyomas with 6p21 abnormalities.
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PMID:PAC clone containing the HMGI(Y) gene spans the breakpoint of a 6p21 translocation in a uterine leiomyoma cell line. 894 99

Uterine leiomyomas are characterized by several subgroups with characteristic chromosomal aberrations, mainly 12q14-15, 6p21, or interstitial deletions of chromosomes 3 and 7. For the first two subgroups, aberrations of the HMGIC and HMGIY genes have been described and are held responsible for tumor initiation. For other subgroups no molecular findings have been described as of yet. We focus here on a smaller subgroup of uterine leiomyomas with a ring chromosome 1 either as the only karyotypic deviation or occurring along with other abnormalities. In the p-arm of chromosome 1 HMG17, another member of the high-mobility group of proteins has been localized to the short arm of chromosome 1 (1p35) with two PAC clones on metaphase spreads of a uterine leiomyoma ring(1). Hybridization signals for these probes were not detected within the ring chromosome consistent with loss or deletion of HMG17. These findings suggest that HMG17 does not play a mechanistic role in leiomyoma similar to that observed with other high-mobility proteins.
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PMID:Deletion of HMG17 in uterine leiomyomas with ring chromosome 1. 997 36