Associated Papers
A CPC-shelterin-BTR axis regulates mitotic telomere deprotection.
Romero-Zamora D et al.
Nature Communications, 2025
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
Gönenc II et al.
Clinical Genetics, 2022
Checkpoint functions of RecQ helicases at perturbed DNA replication fork.
Ahamad N et al.
Current Genetics, 2021
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Bertoli-Avella AM et al.
European Journal of Human Genetics : Ejhg, 2021
Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.
Alzahrani FA et al.
Scientific Reports, 2020
Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases.
Montenegro MM et al.
Molecular Genetics & Genomic Medicine, 2020
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS.
Gratia M et al.
The Journal of Experimental Medicine, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
BLM Potentiates c-Jun Degradation and Alters Its Function as an Oncogenic Transcription Factor.
Priyadarshini R et al.
Cell Reports, 2018
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 rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.
Perreault-Micale C et al.
Molecular Genetics & Genomic Medicine, 2015
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
DNA helicases associated with genetic instability, cancer, and aging.
Suhasini AN et al.
Advances in Experimental Medicine and Biology, 2013
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
Multimeric BLM is dissociated upon ATP hydrolysis and functions as monomers in resolving DNA structures.
Xu YN et al.
Nucleic Acids Research, 2012
Helicase-inactivating mutations as a basis for dominant negative phenotypes.
Wu Y et al.
Cell Cycle (georgetown, Tex.), 2010
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
German J et al.
Human Mutation, 2007
The broken genome: genetic and pharmacologic approaches to breaking DNA.
Woo LL et al.
Annals of Medicine, 2007
Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein.
Guo RB et al.
Nucleic Acids Research, 2007
Human Bloom protein stimulates flap endonuclease 1 activity by resolving DNA secondary structure.
Wang W et al.
The Journal of Biological Chemistry, 2005
Structural and functional characterizations reveal the importance of a zinc binding domain in Bloom's syndrome helicase.
Guo RB et al.
Nucleic Acids Research, 2005
BLM helicase-dependent transport of p53 to sites of stalled DNA replication forks modulates homologous recombination.
Sengupta S et al.
The Embo Journal, 2003
Functional interaction of p53 and BLM DNA helicase in apoptosis.
Wang XW et al.
The Journal of Biological Chemistry, 2001
Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain.
Rong SB et al.
Molecular Medicine (cambridge, Mass.), 2000
Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein.
Bahr A et al.
Oncogene, 1998
Structure and function of RecQ DNA helicases.
Bennett RJ et al.
Critical Reviews in Biochemistry and Molecular Biology, 0