Associated Papers
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic
Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.
Alzahrani FA et al.
Scientific Reports, 2020
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
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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Three new BLM gene mutations associated with Bloom syndrome.
Amor-Guéret M et al.
Genetic Testing, 2008
Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein.
Guo RB et al.
Nucleic Acids Research, 2007
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
Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain.
Rong SB et al.
Molecular Medicine (cambridge, Mass.), 2000
Structure and function of RecQ DNA helicases.
Bennett RJ et al.
Critical Reviews in Biochemistry and Molecular Biology, 0
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