rs61732239
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency.
|
11067872 |
2000 |
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 |
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 |
rs8177832
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results showed that the distribution of rs8177832 genotypes AA, AG and GG in healthy subjects and HIV-1 subjects was; 42.253%, 42.957%, 14.788% and 66%, 27%, 7% respectively.
|
30338740 |
2018 |
rs1057518965
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555119899
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
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 |
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 |
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 |
rs1444669684
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We show here that the expression of K-ras(G12V) oncogene in a near diploid HPV16-E6E7 gene immortalized human pancreatic duct epithelial cell line originally derived from normal pancreas induced the formation of carcinoma in 50% of severe combined immunodeficient mice implanted with these cells.
|
15958547 |
2005 |
rs28399499
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We characterized the HIV-1-infected children (n = 60) for the CYP2B6 c.516G>T, c.785A>G, c.983T>C, and c.1459C>T single nucleotide polymorphisms (SNPs).
|
28816644 |
2017 |
rs3211371
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We characterized the HIV-1-infected children (n = 60) for the CYP2B6 c.516G>T, c.785A>G, c.983T>C, and c.1459C>T single nucleotide polymorphisms (SNPs).
|
28816644 |
2017 |
rs3745274
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We characterized the HIV-1-infected children (n = 60) for the CYP2B6 c.516G>T, c.785A>G, c.983T>C, and c.1459C>T single nucleotide polymorphisms (SNPs).
|
28816644 |
2017 |
rs201137953
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency.
|
11067872 |
2000 |
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 |
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 |
rs121913529
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We show here that the expression of K-ras(G12V) oncogene in a near diploid HPV16-E6E7 gene immortalized human pancreatic duct epithelial cell line originally derived from normal pancreas induced the formation of carcinoma in 50% of severe combined immunodeficient mice implanted with these cells.
|
15958547 |
2005 |
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 |
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 |
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 |
rs3218716
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs74315329
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
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 |
rs1555257073
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|