Disease relevance of Bloom Syndrome

• Furthermore, pathology not observed in Terc mutants but similar to that observed in Werner syndrome and Bloom syndrome, such as bone loss, was observed [1].
• Individual S phase allocyclic chromosomes have been analyzed in Bloom syndrome lymphocytes, in cells with an r(9), and in hypotetraploid Ehrlich mouse ascites cells treated with 1-methyl-2-benzyl hydrazine [2].
• Enhanced expression of stomach cancer antigen derived from malignantly transformed bloom syndrome cells previously labeled with bromodeoxyuridine [3].
• A study of the keratin 10 deficient mouse, a model for epidermolytic hyperkeratosis, and a mouse model for Bloom syndrome are reviewed in this article [4].

High impact information on Bloom Syndrome

• Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normal [5].
• Three types of Bloom syndrome B-lymphoblastoid cell lines, as well as one derived from a normal person, treated with 4-nitroquinoline-N-oxide and N-methyl-N'-nitro-N-nitrosoguanidine (0.3 micrograms/ml for 24 hr), were studied for tumorigenicity in nude mice, colony formation in soft agar, cytogenetic changes, and immunoglobulin markers [6].
• Mutations in BLM give rise to Bloom syndrome, a disease that is characterized by an elevated rate of crossovers and increased cancer susceptibility [7].
• Characterization and mutational analysis of the RecQ core of the bloom syndrome protein [8].
• Evolution of the RECQ family of helicases: A drosophila homolog, Dmblm, is similar to the human bloom syndrome gene [9].

Chemical compound and disease context of Bloom Syndrome

• SCE levels in Bloom-syndrome cells at very low bromodeoxyuridine (BrdU) concentrations: monoclonal anti-BrdU antibody [10].

Gene context of Bloom Syndrome

• Bloom Syndrome (BS) is a human autosomal genetic disorder characterized by a predisposition to a variety of malignant tumors [11].
• Bloom syndrome is caused by mutation of the Bloom helicase (BLM), a member of the RecQ helicase family [12].
• Independent mouse models for Bloom syndrome (BS) exist, each thought to disrupt Blm gene function [13].
• Bloom syndrome, characterized by a predisposition to cancer, is caused by mutation of the RecQ DNA helicase gene BLM [14].

References