|
Bare Lymphocyte Syndrome, Type I
|
0.610 |
Biomarker
|
disease |
BEFREE |
These results suggest that tapasin deficiency is another cause of type I BLS.
|
12149238 |
2002 |
|
Bare Lymphocyte Syndrome, Type I
|
0.610 |
GermlineCausalMutation
|
disease |
ORPHANET |
A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination.
|
12149238 |
2002 |
|
Bare Lymphocyte Syndrome, Type I
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination.
|
12149238 |
2002 |
|
Bare Lymphocyte Syndrome, Type I
|
0.610 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Schizophrenia
|
0.310 |
Biomarker
|
disease |
PSYGENET |
We found significant associations between schizophrenia and TAP1 allele frequencies (P=9.95x10(-3), chi(2)=12.36) as well as TAPASIN allele frequencies (P=2.8x10(-2), chi(2)=5.3).
|
19217216 |
2009 |
|
Schizophrenia
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
We found significant associations between schizophrenia and TAP1 allele frequencies (P=9.95x10(-3), chi(2)=12.36) as well as TAPASIN allele frequencies (P=2.8x10(-2), chi(2)=5.3).
|
19217216 |
2009 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
|
30239722 |
2019 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
To deliver personalized RNA-based-therapy targeting oncogenic miRNAs that form part of this common PDAC miRNA over-expression signature, we packaged antimiR oligonucleotides against one of these miRNAs in tumor-penetrating nanocomplexes (TPN) targeting cell surface proteins on PDAC tumors.<b>Results:</b> As a validation for our pre-clinical strategy, the therapeutic potential of one of our nano-drugs, TPN-21, was first shown to decrease tumor cell growth and survival in PDO avatars for individual patients, then in their PDX avatars.<b>Conclusions:</b> This general approach appears suitable for co-clinical validation of personalized RNA medicine and paves the way to prospectively identify patients with eligible miRNA profiles for personalized RNA-based therapy.<i></i>.
|
29330203 |
2018 |
|
Blood Protein Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genomic atlas of the human plasma proteome.
|
29875488 |
2018 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Moreover, the adoptive transfer of the cep55-specific CTL line failed to prevent tumor growth in mice bearing the tapasin-deficient variant.
|
28344889 |
2017 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Consistent with published functional data showing that tapasin promotes antigen presentation, as well as tumor immune recognition and destruction by CD8(+) CTLs, a reduction in tapasin expression is associated with tumor progression in CRC.
|
26310568 |
2015 |
|
Rheumatoid Arthritis
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.
|
21156761 |
2011 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
TAP1, CNX, LMP7, Erp57 and Tapasin loss were significantly associated with tumor grading, lymph node metastasis and depth of invasion (P < 0.05).
|
21362330 |
2011 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
This is the first demonstration that Tpn alone can enhance survival and immunity against tumors but additionally suggests that Tpn and TAP should be used together as components of immunotherapeutic vaccine protocols to eradicate tumors.
|
18316574 |
2008 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Yet when these experiments were extended to tumour cell lines derived from small cell lung cancer (SCLC), which we show to be tapasin deficient in addition to TAP-negative, the TAP-, tapasin-independent peptides were not presented.
|
17143611 |
2007 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
We studied tapasin transcription by RT-PCR in these tumors and found tapasin downregulation in all 9 tumors samples with the HLA-B44-negative phenotype.
|
15455354 |
2005 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Both tapasin and HLA class I antigen expression were significantly correlated with the number of infiltrating CD3(+) T cells into tumor lesions (P < 0.01); furthermore, tapasin expression was significantly correlated with tumor differentiation (P = 0.024).
|
14519625 |
2003 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Its restoration by cytokines further suggests that impaired tapasin expression in tumors is rather due to dysregulation than to structural alterations.
|
11169257 |
2001 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
A heterogeneous expression pattern of MHC class I antigens, TAP peptide transporter, proteasome subunits, proteasome activator PA28 and the chaperones calnexin, calreticulin as well as tapasin was displayed by these tumor cell lines.
|
10933198 |
2000 |
|
Bronchiectasis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Bronchiolitis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Ectopia Lentis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Pathological accumulation of air in tissues
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Nasal Polyps
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Skin Ulcer
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|