Gain-of-functionc-CBLmutations associated with uniparental disomy of 11q in myeloid neoplasms
نویسندگان
چکیده
منابع مشابه
MYELOID NEOPLASIA Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms
1Wessex Regional Genetics Laboratory, Salisbury, and Human Genetics Division, School of Medicine, University of Southampton, Southampton, United Kingdom; 2Haematology Research Laboratory, Biomedical Research Foundation, Academy of Athens, Athens, Greece; 3Inflammation, Infection and Repair Division, School of Medicine, University of Southampton, Southampton, United Kingdom; 4III Medizinische Un...
متن کاملFrequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms.
Recent evidence has demonstrated that acquired uniparental disomy (aUPD) is a novel mechanism by which pathogenetic mutations in cancer may be reduced to homozygosity. To help identify novel mutations in myeloproliferative neoplasms (MPNs), we performed a genome-wide single nucleotide polymorphism (SNP) screen to identify aUPD in 58 patients with atypical chronic myeloid leukemia (aCML; n = 30)...
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We describe a family with recurrent 11q23-qter deletion Jacobsen syndrome in two affected brothers, with unique mosaic deletion 'rescue' through development of uniparental disomy (UPD) in the mother and one of the brothers. Inheritance studies show that the deleted chromosome is of maternal origin in both boys, and microarray shows a break near the ASAM gene. Parental lymphocyte chromosomes wer...
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In the diploid cells of most organisms, including humans, each chromosome is usually distinguishable from its partner homolog by multiple single-nucleotide polymorphisms. One common type of genetic alteration observed in tumor cells is uniparental disomy (UPD), in which a pair of homologous chromosomes are derived from a single parent, resulting in loss of heterozygosity for all single-nucleoti...
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ژورنال
عنوان ژورنال: Cell Cycle
سال: 2010
ISSN: 1538-4101,1551-4005
DOI: 10.4161/cc.9.6.11034