|
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 |
Biomarker
|
disease |
MGD |
Cancer predisposition caused by elevated mitotic recombination in Bloom mice.
|
11101838 |
2000 |
|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Localization of the Bloom syndrome helicase to punctate nuclear structures and the nuclear matrix and regulation during the cell cycle: comparison with the Werner's syndrome helicase.
|
10569803 |
1999 |
|
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 |
CLINVAR |
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
|
27175728 |
2016 |
|
Bloom Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells.
|
10069810 |
1999 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells.
|
10069810 |
1999 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.
|
23225144 |
2013 |
|
Bloom Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.
|
26358404 |
2015 |
|
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 |
GeneticVariation
|
disease |
LHGDN |
In 102 of the 125 persons in whom at least one BLM mutation was identified, the mutation was recurrent, that is, it was shared by two or more persons with BS; 19 of the 64 different mutations were recurrent.
|
17407155 |
2007 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome.
|
24932421 |
2013 |
|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Bloom's syndrome is a rare human autosomal recessive disorder that combines a marked genetic instability and an increased risk of developing all types of cancers and which results from mutations in both copies of the BLM gene encoding a RecQ 3'-5' DNA helicase.
|
11741924 |
2002 |