|
rs1057518965
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1336343565
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1555119899
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1555257073
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1555908409
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs3218716
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs74315329
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs352140
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Also, the TLR9 rs352140 AA variant genotype was associated with susceptibility to HIV+/HCV+ co-infection in African descendants (recessive, OR=2.92; 95% CI: 1.22-6.98, P=0.016).
|
28062211 |
2017 |
|
rs121913237
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Enhanced engraftment of AE/N-Ras(G12D) cells was observed on intrafemoral injection into immunodeficient mice, presumably because of improved survival in the bone marrow microenvironment.
|
21200020 |
2011 |
|
rs1482518887
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Enhanced engraftment of AE/N-Ras(G12D) cells was observed on intrafemoral injection into immunodeficient mice, presumably because of improved survival in the bone marrow microenvironment.
|
21200020 |
2011 |
|
rs746540053
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Enhanced engraftment of AE/N-Ras(G12D) cells was observed on intrafemoral injection into immunodeficient mice, presumably because of improved survival in the bone marrow microenvironment.
|
21200020 |
2011 |
|
rs778036161
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Enhanced engraftment of AE/N-Ras(G12D) cells was observed on intrafemoral injection into immunodeficient mice, presumably because of improved survival in the bone marrow microenvironment.
|
21200020 |
2011 |
|
rs121434592
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Expression of exogenous copies of AKT1(E17K) in MCF10A breast epithelial cells increased phosphorylation of AKT and its substrates, induced colony formation in soft agar, and formation of lesions in the mammary fat pad of immunodeficient mice.
|
26351323 |
2015 |
|
rs28931594
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, we revealed that the expressions of IL15, CCL5, IL1A, IL23R and TLR5 are down-regulated in keratinocytes expressing Cx26-D50N, suggesting that immune deficiency in KID syndrome expressing Cx26-D50N might be associated not only with skin barrier defects, but also with the down-regulated expression of immune response-related genes.
|
30150638 |
2018 |
|
rs121913529
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Here we present the first formal evidence of the shared and independent ability of basal cells and luminal progenitors, isolated from normal human mammary tissue and transduced with a single oncogene (KRAS(G12D)), to produce serially transplantable, polyclonal, invasive ductal carcinomas within 8 weeks of being introduced either subrenally or subcutaneously into immunodeficient mice.
|
26633636 |
2015 |
|
rs1188975135
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we show that the S61P mutation in human A3C (A3C.S61P) boosted hypermutation in the viral genomes of simian immunodeficiency virus Δvif and murine leukemia virus but not in human immunodeficiency virus HIV-1Δvif.
|
28315663 |
2017 |
|
rs1131691021
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In contrast, the combination of p53 RNAi knockdown with expression of oncogenic H-Ras(G12V) transformed the p16-deficient BAR-T cells, as evidenced by their loss of contact inhibition, by their formation of colonies in soft agar, and by their generation of tumors in immunodeficient mice.
|
20927195 |
2010 |
|
rs762846821
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In contrast, the combination of p53 RNAi knockdown with expression of oncogenic H-Ras(G12V) transformed the p16-deficient BAR-T cells, as evidenced by their loss of contact inhibition, by their formation of colonies in soft agar, and by their generation of tumors in immunodeficient mice.
|
20927195 |
2010 |
|
rs121913529
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Intrabone marrow transplantation into immunodeficient mice further showed that MA4 and KRAS(G12V) alone or in combination enhanced hematopoietic repopulation without impairing myeloid-lymphoid differentiation, and that mutated KRAS did not cooperate with MA4 to initiate leukemia.
|
26837759 |
2016 |
|
rs1015164
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Multiple genome-wide studies have identified associations between outcome of human immunodeficiency virus (HIV) infection and polymorphisms in and around the gene encoding the HIV co-receptor CCR5, but the functional basis for the strongest of these associations, rs1015164A/G, is unknown.
|
31209403 |
2019 |
|
rs128620185
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One amino acid substitution (R28H) was found in the pleckstrin homology domain's residue, which is mutated in mice bearing the X-linked immunodeficiency phenotype; another substitution (R307G) was identified in the src homology domain 2.
|
9143921 |
1997 |
|
rs128621195
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One amino acid substitution (R28H) was found in the pleckstrin homology domain's residue, which is mutated in mice bearing the X-linked immunodeficiency phenotype; another substitution (R307G) was identified in the src homology domain 2.
|
9143921 |
1997 |
|
rs121912438
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Previously, we established that facial MN (FMN) survival levels in the SOD1(G93A) transgenic mouse model of ALS are reduced and nerve regeneration is delayed, similar to immunodeficient RAG2(-/-) mice, after facial nerve axotomy.
|
24911596 |
2014 |
|
rs2204985
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Strikingly, transplantation of human hematopoietic stem cells with the rs2204985 GG genotype into immunodeficient mice led to thymopoiesis with higher TRECs, increased thymocyte counts, and a higher TCR repertoire diversity.
|
30185651 |
2018 |
|
rs2227513
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs2227513 A/G genotype was also associated with significantly higher levels of plasma IL-22, regardless of whether the patient was HIV seropositive or seronegative.
|
25556046 |
2016 |