Associated Papers
Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.
Seo ES et al.
Nature Communications, 2024
39333105 (PubMed )
Supplement: 41467_2024_52128_MOESM4_ESM.xlsx › Supple_Data3_TARGET_CPG_list
TRF2-RAP1 represses RAD51-dependent homology-directed telomere repair by promoting BLM-mediated D-loop unwinding and inhibiting BLM-DNA2-dependent 5'-end resection.
Liang F et al.
Nucleic Acids Research, 2024
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
Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.
Alzahrani FA et al.
Scientific Reports, 2020
Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results.
Olkinuora A et al.
Cancers, 2020
32660107 (PubMed )
Supplement: cancers-12-01853-s001.zip › Supplementary_Files_olkinuora › Table_S2_olkinuora.xlsx › Table_S2
Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer.
Díaz-Gay M et al.
Cancers, 2019
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.
Shastri VM et al.
Molecular Genetics & Genomic Medicine, 2016
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
Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase.
Mirzaei H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
German J et al.
Human Mutation, 2007
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