WebBloom's syndrome is a genetic disorder characterized by increased incidence of cancer and an immunodeficiency of unknown origin. The BLMgene mutated in Bloom's syndrome encodes a DNA helicase involved in the maintenance of genomic integrity. To explore the role of BLM in the immune system, we ablated murine Blmin the T-cell lineage. WebClinVar archives and aggregates information about relationships among variation and human health.
Bloom Syndrome Helicase - an overview ScienceDirect Topics
WebMar 1, 2024 · A number of experimental and computational studies have implicated RECQ helicases – primarily BLM and WRN - as potential targets for cancer therapy, due to the synthetic lethality of their silencing or downregulation with genetic defects inherent in a range of different cancers ( Chan et al., 2024; Lieb et al., 2024; Aggarwal and Brosh, … WebJan 26, 2024 · Bloom syndrome helicase (BLM) is a RecQ-family helicase implicated in a variety of cellular processes, including DNA replication, DNA repair, and telomere maintenance. Mutations in human BLM... platystele orectoglossa
Sindrom Bloom: gejala, penyebab dan pengobatan – News …
WebMar 8, 2001 · Bloom syndrome (BS) is a recessive human genetic disorder characterized by short stature, immunodeficiency and an elevated risk of malignancy. The gene mutated … WebBloom syndrome (MIM# 21090) is a rare autosomic recessive disorder caused by mutations in the gene coding for the DNA helicase BLM (MIM# 604610), which result in genomic … WebNov 27, 2013 · Bloom's syndrome helicase (BLM) is a member of the RecQ family of DNA helicases, which play key roles in the maintenance of genome integrity in all organism … platyspernum