|
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
GeneticVariation
|
disease |
BEFREE |
Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome.
|
8079989 |
1994 |
|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The presence of chain-terminating mutations in the candidate gene in persons with BS proved that it was BLM.
|
7585968 |
1995 |
|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These population data suggested that most persons with Bloom syndrome in whom the exceptional low-SCE cells arise are not homozygous for a mutation at BLM but instead are compound heterozygotes.
|
7485150 |
1995 |
|
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The presence of chain-terminating mutations in the candidate gene in persons with BS proved that it was BLM.
|
7585968 |
1995 |
|
Bloom Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The presence of chain-terminating mutations in the candidate gene in persons with BS proved that it was BLM.
|
7585968 |
1995 |
|
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The presence of chain-terminating mutations in the candidate gene in persons with BS proved that it was BLM.
|
7585968 |
1995 |
|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The presence of chain-terminating mutations in the candidate gene in persons with BS proved that it was BLM.
|
7585968 |
1995 |
|
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The identification of BLM as a putative DNA helicase provides a new and powerful tool to investigate the primary defect in BS and the function of the BLM gene product in maintaining the integrity of the genome.
|
8875252 |
1996 |
|
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The Saccharomyces cerevisiae SGS1 gene is homologous to Escherichia coli RecQ and the human BLM and WRN proteins that are defective in the cancer-prone disorder Bloom's syndrome and the premature aging disorder Werner's syndrome, respectively.
|
8913739 |
1996 |
|
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 |
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 |
UNIPROT |
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 |
CLINVAR |
BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal.
|
9388480 |
1997 |
|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Because many of the mutations in BS individuals are predicted to truncate the BLM protein and thus eliminate the "helicase" motifs or map to conserved positions within these motifs, our data strongly suggest that these mutations will disable the 3'-5' helicase function of the BLM protein.
|
9388193 |
1997 |
|
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 |
The coding region of the Bloom syndrome BLM gene and of the CBL proto-oncogene is mutated in genetically unstable sporadic gastrointestinal tumors.
|
9731483 |
1998 |
|
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The isolation of the gene for BS, known as BLM, has permitted the identification of mutations within the gene and the discovery that most BS individuals of Ashkenazi Jewish origin carry the identical 6-bp deletioin/7-bp insertion at position 2,281 of BLM (blmAsh).
|
9482582 |
1998 |
|
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
To investigate whether BLM was involved in cellular responses to DNA damage Bloom's syndrome fibroblasts were treated with either UV or ionizing radiation and the levels of p53 and two of its down stream effectors, p21waf1/cip1 and hdm2, were determined by western blot analysis.
|
9886565 |
1998 |
|
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene.
|
9808625 |
1998 |
|
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
BLM- and WRN-bearing yeasts provide new useful models to investigate human BS and WS diseases.
|
9671747 |
1998 |
|
Bloom Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein.
|
9840919 |
1998 |
|
Bloom Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population.
|
9758720 |
1998 |
|
Bloom Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Single amino acid substitutions found in BS cells, abolish both ATPase and helicase activities of this protein, indicating that defects in these BLM functions may be primarily responsible for BS establishment.
|
9840919 |
1998 |