Results 1 to 10 of about 269 (206)
The Impact of Next Generation Sequencing in Diagnosis and Management of Rare Diseases: Bloom Syndrome [PDF]
Modern Medicine, 2022 Bloom syndrome is an exceptionally rare autosomal recessive disorder characterized by a considerable genomic instability due to the defective DNA damage repair machine.
Ina-Ofelia FOCSA +6 more
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Exploration of Medicine, 2023 Progeroid syndromes are characterized by clinical signs of premature ageing, which may contain several diseases such as Werner syndrome, Bloom syndrome, Rothmund-Thomson syndrome, Hutchinson-Gilford progeria syndrome, and Cockayne syndrome.
Naoko Suga +3 more
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Refractory gastroduodenal ulcers: A rare complication with Bloom syndrome
Clinical Case Reports, 2022 Bloom syndrome patients often develop severe gastrointestinal symptoms mainly caused by gastric tumors due to DNA repair disorder. Here, we report 31‐year‐old Bloom syndrome patient suffering persistent abdominal pain due to refractory gastroduodenal ...
Masaaki Usami +4 more
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Scientific Reports, 2021 Bloom Syndrome (BS; OMIM #210900; ORPHA #125) is a rare genetic disorder that is associated with growth deficits, compromised immune system, insulin resistance, genome instability and extraordinary predisposition to cancer.
Veena Subramanian +5 more
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Bloom helicase mediates formation of large single–stranded DNA loops during DNA end processing
Nature Communications, 2022 Bloom syndrome is a genetic disorder associated with increased cancer risk and is caused by mutations in Bloom helicase. This study investigates the mechanisms used by BLM helicase as initiates the repair of broken chromosomes.
Chaoyou Xue +7 more
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Immunodeficiency in Bloom’s Syndrome [PDF]
Journal of Clinical Immunology, 2017 Bloom's syndrome (BS) is an autosomal recessive disease, caused by mutations in the BLM gene. This gene codes for BLM protein, which is a helicase involved in DNA repair. DNA repair is especially important for the development and maturation of the T and B cells.
Michiel H. D. Schoenaker +8 more
openaire +4 more sources
EMBO Molecular Medicine, 2023 Topoisomerase 3α (TOP3A) is an enzyme that removes torsional strain and interlinks between DNA molecules. TOP3A localises to both the nucleus and mitochondria, with the two isoforms playing specialised roles in DNA recombination and replication ...
Direnis Erdinc +32 more
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Human RecQ Helicases in DNA Double-Strand Break Repair
Frontiers in Cell and Developmental Biology, 2021 RecQ DNA helicases are a conserved protein family found in bacteria, fungus, plants, and animals. These helicases play important roles in multiple cellular functions, including DNA replication, transcription, DNA repair, and telomere maintenance.
Huiming Lu, Anthony J. Davis
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Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome. [PDF]
PLoS Genetics, 2016 Bloom syndrome is a recessive human genetic disorder with features of genome instability, growth deficiency and predisposition to cancer. The only known causative gene is the BLM helicase that is a member of a protein complex along with topoisomerase III
Damien F Hudson +6 more
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Case Report: Diabetes in Chinese Bloom Syndrome
Frontiers in Endocrinology, 2021 Bloom syndrome (BS) is a rare autosomal recessive disorder that causes several endocrine abnormalities. So far, only one BS pedigree, without diabetes, has been reported in the Chinese population.
Mingqun Deng +4 more
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