WebSep 20, 2002 · Mutation of one allele of Blm has measurable consequences for the phenotype of murine somatic cells and for the tumor susceptibility of the mouse. Our … WebOct 19, 1998 · Bloom's syndrome (BS) is a rare human genetic disorder characterized by mutations within the BLM gene whose primary effects are excessive chromosome …
7156 - Gene ResultTOP3A DNA topoisomerase III alpha [ (human)]
WebThis gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. WebThe BLM gene encodes a protein of 1417 amino acids that includes 7 conserved amino acid motifs found in many DNA and RNA helicases, including the RecQ family of helicases of which BLM is a member. The BS phenotype includes an enormous predisposition to cancer, with a mean age at cancer diagnosis of approximately 24 years. pre owned suv low miles
Functions of BLM Helicase in Cells: Is It Acting Like a Double ... - PubMed
WebOct 13, 2024 · Bloom Syndrome is a rare recessive disease which includes a susceptibility to various cancers. It is caused by homozygous mutations of the BLM gene. Loss of the wild-type BLM allele was not detected in cancers from the BLM mutation carriers. No cancer type was more common in the relatives of mutation carriers compared to relatives of non … WebJun 7, 2010 · Disruption of the mouse Blm and Rad54 loci. ES cell mutants carrying either a hypomorphic mutation in the Blm gene or disruption of the Rad54 gene have been described previously (Essers et al ... Web4 Things To Know 1 BLM mutation Your testing shows that you have a pathogenic mutation or a variant that is likely pathogenic in the BLM gene. 2 Cancer risks You may have an increased chance to develop female breast cancer, and colorectal cancer. 3 What you can do There are risk management options to detect cancer early or lower your risk to … scott county georgetown ky pva