|
Pituitary dwarfism
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
A subset of patients with isolated growth hormone deficiency (IGHD) harbors mutations in the <i>RNPC3</i> gene, which encodes the minor spliceosome-specific U11/U12-65K protein.
|
29255062 |
2018 |
|
Isolated somatotropin deficiency
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
A subset of patients with isolated growth hormone deficiency (IGHD) harbors mutations in the <i>RNPC3</i> gene, which encodes the minor spliceosome-specific U11/U12-65K protein.
|
29255062 |
2018 |
|
Lupus Erythematosus, Systemic
|
0.100 |
Biomarker
|
disease |
BEFREE |
Coarse speckled pattern with anti-RNP or anti-Sm showed thrombocytopenia and renal involvement in JSLE patients, but leukopenia in both groups.
|
31012595 |
2019 |
|
Lupus Erythematosus, Systemic
|
0.100 |
Biomarker
|
disease |
BEFREE |
A few relevant correlations were observed among specific clinical cutaneous manifestations (in particular, malar rash correlated with photosensitivity, alopecia, and oral ulcers) and serologic manifestations (anti-Sm and anti-dsDNA and anti-RNP, anti-Ro with anti-La, and between anti-phospholipid antibodies), and these results were validated in the Euro-Lupus cohort.
|
31560454 |
2019 |
|
Lupus Erythematosus, Systemic
|
0.100 |
Biomarker
|
disease |
BEFREE |
In clinical manifestation, the odds ratio of GADD45b -712CT genotype with anti-RNP antibody was 4.14 (95% CI, 1.10-15.63) in SLE patients.
|
31195707 |
2019 |
|
Systemic Scleroderma
|
0.100 |
Biomarker
|
disease |
BEFREE |
No significant association was found between SSc-specific autoantibodies (anti-centromere, anti-Scl-70, anti-RNA polymerase III and anti-RNP) status and the risk of depression.
|
30268959 |
2019 |
|
Systemic Scleroderma
|
0.100 |
Biomarker
|
disease |
BEFREE |
We then examined anti-RNPC-3-positive cases and negative SSc controls from the University of Pittsburgh and the University of Pittsburgh Medical Center (UPMC) scleroderma cohort to confirm our findings and to examine whether specific GI features were associated with anti-RNPC-3 antibodies.
|
30242973 |
2019 |
|
Lupus Erythematosus, Systemic
|
0.100 |
Biomarker
|
disease |
BEFREE |
Better acknowledgement of possible clinical involvements in lupus subsets, such as the peculiarities related to the anti-U1-RNP positivity, could provide access to early diagnosis of rather rare but possible severe lupus organ impairments (e.g. pulmonary arterial hypertension).
|
29796907 |
2018 |
|
Lupus Erythematosus, Systemic
|
0.100 |
Biomarker
|
disease |
BEFREE |
A family history of lupus did not significantly affect clinical phenotypes, except for higher frequency of discoid rash and anti-RNP in the FL group, and more anti-RNP positivity in the RD group.
|
28770711 |
2018 |
|
Lupus Erythematosus, Systemic
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mixed connective tissue disease (MCTD) is a systemic autoimmune rheumatic disease (SARD) characterised by the combination of clinical manifestations of systemic lupus erythematosus (SLE), cutaneous systemic sclerosis (SSc) and polymyositis-dermatomyositis, in the presence of elevated titers of anti-U1-RNP antibodies.
|
28864092 |
2018 |
|
Lupus Erythematosus, Systemic
|
0.100 |
Biomarker
|
disease |
BEFREE |
Association of extrapituitary prolactin promoter polymorphism with disease susceptibility and anti-RNP antibodies in Mexican patients with systemic lupus erythematosus.
|
30154884 |
2018 |
|
Systemic Scleroderma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Antinuclear antibodies, anti-centromere antibodies, antiphospholipid antibodies, anti-U3 RNP antibodies and anti-Th/To antibodies would appear to show a particularly important prevalence in scleroderma patients with pulmonary hypertension, appearing in about 8/10 (antinuclear), 1/ 2 (anti-centromere, anti-phospholipid), and 1/4 (anti-U3RNP, anti-Th/To) of patients.
|
30316987 |
2018 |
|
Lupus Erythematosus, Systemic
|
0.100 |
Biomarker
|
disease |
BEFREE |
ACA = anti-cardiolipin antibodies; ANF = anti-nuclear factor; anti-CCP = anti-cyclic citrullinated peptide; anti-dsDNA = anti-double-stranded DNA; anti-RNP = anti-ribonucleoprotein; anti-Scl70 = anti-topoisomerase I antibodies; anti-SM = anti-Smith antigen antibodies; anti-SS-A/Ro = anti-Sjögren syndrome-related antigen A (Ro); anti-SS-B/La = anti-Sjögren syndrome-related antigen B (La); anti-Tg = anti-thyroglobulin; anti-TPO = anti-thyroid peroxidase; ATD = autoimmune thyroid disease; ENA = extractable nuclear antigen; fT4 = free thyroxine; OR = odds ratio; RF = rheumatoid factor; SLE = systemic lupus erythematosus; SLEDAI = SLE Disease Activity Index; TD = thyroid dysfunction; TSH = thyroid-stimulating hormone; TT3 = total triiodothyronine.
|
28816533 |
2017 |
|
Systemic Scleroderma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Patients with anti-RNPC-3 had a short cancer-scleroderma interval (median 0.9 years).
|
28217959 |
2017 |
|
Lupus Erythematosus, Systemic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
On the other hand, significant association was detected between rs1063320 C and anti-RNP antibody and anti-Sm antibody positive SLE, which was dependent on negative LD with DRB1*13:02. eQTL analysis showed reduced HLA-G mRNA level in 14bp ins/ins individuals.
|
27331404 |
2016 |
|
Systemic Scleroderma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We identified a specificity for the minor spliceosome complex containing RNA Binding Region (RNP1, RNA recognition motif) Containing 3 (RNPC3) that is found in patients with scleroderma without known specificities and is absent in unrelated autoimmune diseases.
|
27821747 |
2016 |
|
Lupus Erythematosus, Systemic
|
0.100 |
Biomarker
|
disease |
BEFREE |
Ninety-seven per cent of patients satisfying Alarcon-Segovia MCTD criteria also met Systemic Lupus International Collaborating Clinic (SLICC) SLE criteria, while 47% of the anti-RNP + SLE patients also met MCTD criteria.
|
25736140 |
2015 |
|
Lupus Erythematosus, Systemic
|
0.100 |
Biomarker
|
disease |
BEFREE |
In conclusion, hypomethylation of CpG sites within genes from different pathways is associated with anti-dsDNA, anti-SSA, anti-Sm, and anti-RNP production in SLE, and these associations are not explained by genetic variation.
|
26192630 |
2015 |
|
Lupus Erythematosus, Systemic
|
0.100 |
Biomarker
|
disease |
BEFREE |
Also, anti-RNP positive antibodies in SLE were associated with G/G -844 PAI-1 genotype.
|
20567875 |
2011 |
|
Lupus Erythematosus, Systemic
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A subset of SSc patients shows a "lupus-like" high IFN-inducible gene expression pattern that correlates with the presence of antitopoisomerase and anti-U1 RNP antibodies.
|
20112391 |
2010 |
|
Systemic Scleroderma
|
0.100 |
Biomarker
|
disease |
BEFREE |
As expected, antitopoisomerase I antibody (Ab, n=64), anti-RNA polymerases (RNAP) Ab (n=12) and anti-U3 RNP Ab (n=5) were associated with diffuse cutaneous SSc, whereas anticentromere Ab (ACA, n=75), anti-Th/To Ab (n=7) and anti-U1 RNP Ab (n=10) were frequently detected in patients with limited cutaneous SSc.
|
18205876 |
2008 |
|
Lupus Erythematosus, Systemic
|
0.100 |
Biomarker
|
disease |
BEFREE |
Anti-Sm antibodies are detectable in a percentage of SLE patients comprised between 5 and 30%; they are more prevalent in blacks and because of their high specificity for SLE have been included in the serological criteria for diagnosing the disease.Anti-RNP are detectable in 25-47% of SLE patients; high titers of anti-RNP antibodies are diagnostic of mixed connective tissue disorder (MCTD).
|
15804705 |
2005 |
|
Lupus Erythematosus, Systemic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although no significant associations with the risk of SLE were found, logistic regression analyses revealed that one non-synonymous SNPs in exon 8, +2373A>G(Gln244Arg), was significantly associated with an increased risk of the production of anti-RNP and anti-dsDNA antibodies among SLE patients.
|
15333586 |
2004 |
|
Systemic Scleroderma
|
0.100 |
Biomarker
|
disease |
BEFREE |
In Japanese scleroderma, the +49A allele of CTLA-4 increased in the presence of SSc with the anti-RNP antibody.
|
12508774 |
2003 |
|
Lupus Erythematosus, Systemic
|
0.100 |
Biomarker
|
disease |
BEFREE |
This autoimmune response, generally referred to as the anti-RNP (ribonucleoprotein) antibodies, is observed in about 30% of patients with systemic lupus erythematosus (SLE).
|
12100018 |
2002 |