|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study we characterize a new BLM mutation in a BS patient leading to the replacement, in the C-terminal region of Blm, of a highly conserved cysteine by a phenylalanine in codon 1036.
|
9285778 |
1997 |
|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Bloom's syndrome (BS), a rare genetic disease, arises through mutations in both alleles of the BLM gene which encodes a 3'-5' DNA helicase identified as a member of the RecQ family.
|
11146546 |
2000 |
|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Therefore, BLM, the gene that when mutated gives rise to Bloom syndrome, is tightly linked to FES, a gene whose chromosome position is known to be 15q26.1.
|
8022833 |
1994 |
|
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 |
BEFREE |
Mutations in BLM, which encodes a RecQ helicase, give rise to Bloom's syndrome, a disorder associated with cancer predisposition and genomic instability.
|
14685245 |
2003 |
|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation of BLM helicase causes Blooms syndrome, a disorder associated with genome instability, high levels of sister chromatid exchanges, and cancer predisposition.
|
21300576 |
2011 |
|
Bloom Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Cells defective for BLM exhibit elevated levels of sister chromatid exchanges (SCEs) and patients with Bloom's syndrome develop a broad spectrum of early-onset cancers caused by chromosome instability.
|
21399624 |
2011 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
BLM, the protein mutated in Bloom's syndrome, is a member of the RecQ helicase family, and possesses both DNA-unwinding and strand-annealing activity.
|
19935873 |
2009 |
|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The genes encoding BLM and WRN are mutated in the cancer-prone disorder Bloom's syndrome (BS) and the plogeroid disorder Werner's syndrome (WS), respectively.
|
11275547 |
2001 |
|
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normal.
|
10521302 |
1999 |
|
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We constructed a transgenic mouse line expressing human BLM (BLM-Tg) and crossed it onto both backgrounds.
|
25908507 |
2015 |
|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Bloom syndrome is caused by homozygous mutations in BLM, which encodes a RecQ DNA helicase.
|
18787401 |
2008 |
|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
BLM is a DNA helicase encoded by a gene which is mutated in persons with Bloom's syndrome.
|
10545272 |
1999 |
|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One BS cell line homozygous for a null mutation in BLM was resistant to both UVC- and HU-induced apoptosis, while another one expressing a mutated BLM protein was resistant to HU-induced apoptosis but displayed normal sensitivity to UVC.
|
12429945 |
2002 |
|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
BLM linkage performed by microsatellite genotyping revealed homozygous haplotypes for the BS patients, evidence of linkage to BLM gene.
|
24118499 |
2014 |
|
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
cDNA cloning of mouse BLM gene, the homologue to human Bloom's syndrome gene, which is highly expressed in the testis at the mRNA level.
|
9655940 |
1998 |
|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Additionally, the direct BLM gene sequencing identified a novel homozygous frameshift mutation c.3617-3619delAA (p.K1207fsX9) in BS patients and a heterozygous BLM mutation in the family members with higher SCE frequency.
|
25129257 |
2014 |
|
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We show that, consistent with a role for BLM in protection of human cells against the toxicity associated with arrest of DNA replication, BS cells are hypersensitive to HU.
|
14729972 |
2004 |
|
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Bloom syndrome (BS) is characterized by premature aging and high predisposition to various types of cancer.BLM is the causative gene for BS.
|
11697506 |
2001 |
|
Bloom Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Through a comparison of BS cell lines, and a derivative in which the BS phenotype has been reverted by expression of the BLM cDNA, we show that BS cells display aberrant end-joining of DSBs.
|
11971187 |
2002 |
|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
BLM, the gene mutated in BS, encodes a member of the RecQ family of DNA helicases.
|
11691925 |
2001 |
|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Other members of this gene family are BLM mutated in Bloom syndrome, WRN mutated in Werner syndrome and RECQL and RECQL5.
|
12952869 |
2003 |
|
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
BLM was identified as the causative gene for BS, and BLM protein is homologous to DNA helicase.
|
9388480 |
1997 |
|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report here direct interaction between BLM, mutated in Bloom's Syndrome (BS), and ATM, mutated is ataxia-telangiectasia, and we have mapped the sites of interaction.
|
12034743 |
2002 |