Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A previously reported homozygous damaging variant in BLM is predicted to cause Bloom syndrome in 1 case and 1 case was homozygous for a damaging variant in MCPH1, a result of uncertain significance.
|
31112269 |
2020 |
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
These results demonstrate the conserved role of BLM in maintaining the genome while reinforcing the applicability of using Drosophila as a model system to study Bloom Syndrome.
|
31772289 |
2019 |
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The Saccharomyces cerevisiae RecQ helicase Sgs1 is orthologous to human BLM, defects in which cause the cancer-prone Bloom's Syndrome.
|
30916344 |
2019 |
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
BLM RecQ-like helicase is essential for genome integrity and is deficient in Bloom syndrome (BS), a rare genetic disease characterized by genome instability, accumulation of micronuclei, susceptibility to cancer, and immunodeficiency.
|
30936263 |
2019 |
Bloom Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
LOHs were generated by the combination of allele-specific double-stranded DNA breaks introduced by CRISPR/Cas9 and suppression of Bloom syndrome (BLM) gene expression by the Tet-Off system.
|
31805151 |
2019 |
Bloom Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The high expression of BLM (Bloom syndrome) helicase in tumors involves its strong association with cell expansion.
|
31660888 |
2019 |
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the BLM gene encoding the DNA helicase BLM leads to a rare chromosomal instability disorder known as Bloom's syndrome.
|
30209988 |
2018 |
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Whole Exome Sequencing demonstrated that she had Bloom syndrome caused by a compound heterozygous mutation in BLM (c.2207_2212delinsTAGATTC; p.(Tyr736Leufs*5) and c.3681del; p.(Lys1227Asnfs*52)).
|
29056561 |
2018 |
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BLM helicase predispose Bloom syndrome (BS) patients to a wide spectrum of cancers.
|
30044990 |
2018 |
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An additional 2 cancers were identified in a woman with a diagnosis of Bloom syndrome (BLM mutation) who was not germline tested.
|
29958926 |
2018 |
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BLM in Bloom Syndrome patients predispose them to multiple types of cancers.
|
29523790 |
2018 |
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutational inactivation of Werner (WRN) and Bloom (BLM) genes results in Werner syndrome (WS) and Bloom syndrome (BS) respectively.
|
29080750 |
2018 |
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Germline DNA-repair Gene Mutations and Outcomes in Men with Metastatic Castration-resistant Prostate Cancer Receiving First-line Abiraterone and Enzalutamide.
|
29439820 |
2018 |
Bloom Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Immunodeficiency in Bloom's Syndrome.
|
29098565 |
2018 |
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Real-Time PCR was carried out on lung tissue of mice either BLM (BLM-tm) or physiological solution-treated (PSS-tm), and in primary lung fibroblasts, isolated from healthy C57BL/6 mice.
|
28526615 |
2017 |
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Cells from Bloom's syndrome patients display genome instability due to a defective BLM and the downregulation of cytidine deaminase.
|
28947735 |
2017 |
Bloom Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
|
27959697 |
2017 |
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human BLM helicase give rise to the autosomal recessive Bloom syndrome, which shows high predisposition to types of malignant tumours.
|
28338731 |
2017 |
Bloom Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis.
|
28611551 |
2017 |
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Analysis of BLM in Bloom's syndrome fibroblasts or by depletion of BLM from human cancer cells confirms a role for Sgs1/BLM in suppressing R-loop-associated genome instability across species.
|
29042409 |
2017 |
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Overall, loss of RMI2 produces a partially active BLM complex with mild features of Bloom syndrome.
|
27977684 |
2016 |
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
|
27175728 |
2016 |
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Regulation of BLM Nucleolar Localization.
|
27657136 |
2016 |
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.
|
27356891 |
2016 |