Associated Papers
Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication.
Tsutakawa SE et al.
Frontiers in Molecular Biosciences, 2021
34966786 (PubMed )
Supplement: Table3.XLSX › BLM_germline_VUS
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.
Shastri VM et al.
Molecular Genetics & Genomic Medicine, 2016
A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.
Ben Salah G et al.
Molecular Biology Reports, 2014
Structure of human Bloom's syndrome helicase in complex with ADP and duplex DNA.
Swan MK et al.
Acta Crystallographica. Section D, Biological Crystallography, 2014
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
German J et al.
Human Mutation, 2007
Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein.
Guo RB et al.
Nucleic Acids Research, 2007
High-resolution structure of the E.coli RecQ helicase catalytic core.
Bernstein DA et al.
The Embo Journal, 2003
Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain.
Rong SB et al.
Molecular Medicine (cambridge, Mass.), 2000
Disease-causing missense mutations in human DNA helicase disorders.
Suhasini AN et al.
Mutation Research, 0
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