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
Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.
Alzahrani FA et al.
Scientific Reports, 2020
Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.
Cunniff C et al.
Molecular Syndromology, 2017
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
Clinical features of Bloom syndrome and function of the causative gene, BLM helicase.
Kaneko H et al.
Expert Review of Molecular Diagnostics, 2004
High-resolution structure of the E.coli RecQ helicase catalytic core.
Bernstein DA et al.
The Embo Journal, 2003
Mechanisms and consequences of somatic mosaicism in humans.
Youssoufian H et al.
Nature Reviews. Genetics, 2002
Back mutation can produce phenotype reversion in Bloom syndrome somatic cells.
Ellis NA et al.
Human Genetics, 2001
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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