Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Redox Biology"
DOI: 10.1016/j.redox.2016.12.030
Abstract: Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NBS) are characterised by immunodeficiency, extreme radiosensitivity, higher cancer susceptibility, premature aging, neurodegeneration and insulin resistance. Some of these functional abnormalities can… read more here.
Keywords: telangiectasia bloom; oxidative stress; ataxia telangiectasia; stress ... See more keywords
Bloom syndrome and the underlying causes of genetic instability.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2021.03.003
Abstract: Autosomal hereditary recessive diseases characterized by genetic instability are often associated with cancer predisposition. Bloom syndrome (BS), a rare genetic disorder, with read more here.
Keywords: genetic instability; syndrome underlying; bloom syndrome;
Discovery of Isaindigotone Derivatives as Novel Bloom's Syndrome Protein (BLM) Helicase Inhibitors That Disrupt the BLM/DNA Interactions and Regulate the Homologous Recombination Repair.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of medicinal chemistry"
DOI: 10.1021/acs.jmedchem.9b00083
Abstract: Homologous recombination repair (HRR), a crucial approach in DNA damage repair, is an attractive target in cancer therapy and drug design. The Bloom syndrome protein (BLM) is a 3'-5' DNA helicase that performs an important… read more here.
Keywords: dna; blm dna; homologous recombination; recombination repair ... See more keywords
The toposiomerase IIIalpha-RMI1-RMI2 complex orients human Bloom’s syndrome helicase for efficient disruption of D-loops
Sign Up to like & getrecommendations! Published in 2022 at "Nature Communications"
DOI: 10.1038/s41467-022-28208-9
Abstract: Homologous recombination (HR) is a ubiquitous and efficient process that serves the repair of severe forms of DNA damage and the generation of genetic diversity during meiosis. HR can proceed via multiple pathways with different… read more here.
Keywords: bloom syndrome; human bloom; rmi1 rmi2; disruption ... See more keywords
Mechanism of Bloom syndrome complex assembly required for double Holliday junction dissolution and genome stability
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2109093119
Abstract: Significance Bloom syndrome complex (BS complex) is necessary for maintenance of genome stability and suppression of cancer-causing mutations. Composed of a helicase, a topoisomerase, and two scaffolds, the BS complex is implicated in several steps… read more here.
Keywords: dissolution; bloom syndrome; syndrome; double holliday ... See more keywords
Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical genetics"
DOI: 10.1111/cge.14125
Abstract: Bloom syndrome (BS) is an autosomal recessive disorder with characteristic clinical features of primary microcephaly, growth deficiency, cancer predisposition, and immunodeficiency. Here, we report the clinical and molecular findings of eight patients from six families… read more here.
Keywords: phenotypic spectrum; rmi1; bloom syndrome; bloom ... See more keywords
Discovery of a Novel Bloom’s Syndrome Protein (BLM) Inhibitor Suppressing Growth and Metastasis of Prostate Cancer
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232314798
Abstract: Prostate cancer (PCa) is a common cancer and a major cause of cancer-related death worldwide in men, necessitating novel targets for cancer therapy. High expression of Bloom’s syndrome protein (BLM) helicase is associated with the… read more here.
Keywords: prostate cancer; blm; syndrome protein; bloom syndrome ... See more keywords
A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report
Sign Up to like & getrecommendations! Published in 2023 at "Molecular Medicine Reports"
DOI: 10.3892/mmr.2023.12997
Abstract: Pathogenic variants affecting the BLM gene are responsible for the manifestation of extremely rare cancer-predisposing Bloom syndrome. The present study reports on a case of an infant with a congenital hypotrophy, short stature and abnormal… read more here.
Keywords: trio based; based exome; bloom syndrome; case ... See more keywords