|
Fanconi Anemia
|
0.040 |
Biomarker
|
disease |
BEFREE |
Together this suggests that a prototypical FA-related ICL repair pathway operates in budding yeast, which acts redundantly with the pathway controlled by Pso2, and is required for the targeting of Exo1 to chromatin to execute ICL repair.
|
22912599 |
2012 |
|
Fanconi Anemia
|
0.040 |
Biomarker
|
disease |
BEFREE |
To evaluate the epistatic relationship between hSNM1 and other ICL repair pathways, we depleted hSNM1 in Fanconi anemia (FA) cells, which are inherently sensitive to ICLs.
|
18180189 |
2008 |
|
Fanconi Anemia
|
0.040 |
Biomarker
|
disease |
BEFREE |
The homology of the KIAA0086 gene to the yeast SNM1 gene, which is involved in the cellular response to DNA-interstrand crosslinks, is discussed with respect to a possible role of the KIAA0086 gene in the human disorder, Fanconi anemia.
|
9806498 |
1998 |
|
Fanconi Anemia
|
0.040 |
Biomarker
|
disease |
BEFREE |
In their sensitivity only to difunctional compounds and lack of an apparent DNA excision repair defect the phenotype of Walker cells strongly resembles those cells from human patients suffering from Fanconi's anaemia and also of yeast snm1 mutant cells.
|
1719394 |
1991 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.030 |
Biomarker
|
disease |
BEFREE |
Together this suggests that a prototypical FA-related ICL repair pathway operates in budding yeast, which acts redundantly with the pathway controlled by Pso2, and is required for the targeting of Exo1 to chromatin to execute ICL repair.
|
22912599 |
2012 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.030 |
Biomarker
|
disease |
BEFREE |
To evaluate the epistatic relationship between hSNM1 and other ICL repair pathways, we depleted hSNM1 in Fanconi anemia (FA) cells, which are inherently sensitive to ICLs.
|
18180189 |
2008 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.030 |
Biomarker
|
disease |
BEFREE |
The homology of the KIAA0086 gene to the yeast SNM1 gene, which is involved in the cellular response to DNA-interstrand crosslinks, is discussed with respect to a possible role of the KIAA0086 gene in the human disorder, Fanconi anemia.
|
9806498 |
1998 |
|
Colorectal Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
This study will evaluate the prognostic value of molecular modulation of double-strand break repair (XRCC2 and XRCC5); DNA damage tolerance/translesion synthesis (POLH, POLK, and POLQ), and interstrand crosslink repair (DCLRE1A) in sporadic colorectal cancer (CRC).
|
31650563 |
2020 |
|
Peripheral Neuropathy
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Asp317His in DCLRE1A was most associated with peripheral neuropathy (OR 1.3, 95% CI 1.1-1.6, P = 0.003).
|
30114658 |
2018 |
|
Peripheral Nervous System Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Asp317His in DCLRE1A was most associated with peripheral neuropathy (OR 1.3, 95% CI 1.1-1.6, P = 0.003).
|
30114658 |
2018 |
|
Small cell carcinoma of lung
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
An SNP, Val83Met, in the MTH1 (microtT homolog 1) gene encoding a triphosphatase that hydrolyzes pro-mutagenic oxidized nucleoside triphosphates, such as 8-hydroxy-dGTP and 2-hydroxy-dATP, showed the strongest and a significant association with SCLC risk [odds ratio (OR)=1.6, 95% confidence interval (CI): 1.2-2.2, P=0.004], while three other SNPs in the TP53, BLM and SNM1 genes, respectively, also showed marginal associations (0.05<P<0.1).
|
16774934 |
2006 |
|
Severe Combined Immunodeficiency
|
0.010 |
Biomarker
|
disease |
BEFREE |
One of the transcripts showed significant homology with the mouse and yeast SNM1/PSO(2) and was recently reported (Artemis) to be responsible for another T(-)B(-)NK(+) SCID condition (radiation sensitive SCID) in 13 patients of primarily European origin.
|
12055248 |
2002 |
|
SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE
|
0.010 |
Biomarker
|
disease |
BEFREE |
The above results indicate that this SNM1-like gene (Artemis) is the gene responsible for SCIDA.
|
12055248 |
2002 |