|
rs137852741
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Using a targeted in vivo gene delivery approach, we assessed the impact of BMPR2 gene delivery in a transgenic mouse model in which PAH was first induced by doxycycline driven expression of a dominant negative BMPR2 mutant (R899X).
|
26689975 |
2016 |
|
rs137852741
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Administration of rhACE2 to Rosa26-Bmpr2(R899X) mice with established PAH normalizes pulmonary pressures.
|
22180660 |
2012 |
|
rs137852741
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Three BMPR2 mutants, D485G, N519K, and R899X, which are known to be involved in PAH, were chosen as our model system.
|
21622843 |
2011 |
|
rs137852741
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We tested this notion using bone marrow-derived macrophages (BMDM; precursors of tissue macrophages) isolated from ROSA26rtTAXTetO(7)-tet-BMPR2(R899X) mice (model of PAH with universal expression of a mutated BMPR2 gene) with and without activation by LPS and in human lung tissue from HPAH with BMPR2 mutations and idiopathic PAH (IPAH).
|
20562228 |
2010 |
|
rs112735431
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Documentation of the RNF213 p.Arg4810Lys variant, as well as already known pathogenic genes, such as BMPR2, can provide clinically relevant information for therapeutic strategies, leading to a personalized approach for the treatment of PAH.
|
31542298 |
2020 |
|
rs374514431
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients with autosome recessive inheritance of NFU1 mutation G208C have reduced activity of the respiratory chain complex II, lipoic-acid dependent enzymes, and develop pulmonary arterial hypertension (PAH) in ~ 70% of cases.
|
31461310 |
2020 |
|
rs137852749
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This finding may help to advance our understanding of RP in PAH across families sharing the p.Arg491Gln pathogenic mutation in <i>BMPR2</i>.
|
30894412 |
2019 |
|
rs201234174
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The compound heterozygous MUC6 gene mutation (p.Pro1716Ser) suggests a novel disease mechanism leading to PAH.
|
30047301 |
2019 |
|
rs367837827
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We present a case of an infant with lactic acidosis, failure to thrive, and severe primary pulmonary hypertension who was found to be a compound heterozygote for two novel VARS2 variants (c.1940C>T, p.(Thr647Met) and c.2318G>A, p.(Arg773Gln)).
|
31529142 |
2019 |
|
rs775921458
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a de novo novel heterozygous predicted deleterious missense variant c.G2873A (p.R958H) in ABCC8 in a child with idiopathic PAH.
|
30354297 |
2018 |
|
rs4880
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There is significant association between SOD rs4880 polymorphism and the PAH susceptibility, and this polymorphism influenced PAH susceptibility by altering the expression of SOD2.
|
28272301 |
2017 |
|
rs619586
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Taken together, our findings propose that functional polymorphism rs619586A>G in MALAT1 gene plays an important role in PAH pathogenesis and may serve as a potential indicator for PAH susceptibility.
|
27362960 |
2017 |
|
rs833061
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings suggest that the functional polymorphism rs833061T>C in VEGF gene promoter modulates VEGF expression and may be a valuable biomarker for predicting PAH susceptibility.
|
28120560 |
2017 |
|
rs1359984100
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using a targeted in vivo gene delivery approach, we assessed the impact of BMPR2 gene delivery in a transgenic mouse model in which PAH was first induced by doxycycline driven expression of a dominant negative BMPR2 mutant (R899X).
|
26689975 |
2016 |
|
rs41322046
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this study was to analyze the Endoglin (ENG) gene and assess the influence of the c.572G > A (p.G191D) mutation in patients with idiopathic or associated PAH.
|
27260700 |
2016 |
|
rs77375493
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Correlation analysis between JAK2 V617F allele burden and other parameters revealed: statistical significant correlation with age, HB, HCT, PLT, UA, LDH, and splenic diameter but insignificant correlation with WBCs and PAH.
|
27468853 |
2016 |
|
rs80338796
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We present two infants with Noonan syndrome and an identical RAF1 mutation, p.Ser257Leu (c.770C>T), who developed severe pulmonary arterial hypertension (PAH) that proved to be fatal.
|
25706034 |
2015 |
|
rs1085307252
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension.
|
23139147 |
2014 |
|
rs1085307253
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension.
|
23139147 |
2014 |
|
rs863223746
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report on a novel de novo c.535C>T in exon 6 leading to p.R179C aminoacid substitution in ACTA2 in a toddler girl with primary pulmonary hypertension, persistent ductus arteriosus, extensive cerebral white matter lesions, fixed dilated pupils, intestinal malrotation, and hypotonic bladder.
|
23613326 |
2013 |
|
rs886039303
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report on a novel de novo c.535C>T in exon 6 leading to p.R179C aminoacid substitution in ACTA2 in a toddler girl with primary pulmonary hypertension, persistent ductus arteriosus, extensive cerebral white matter lesions, fixed dilated pupils, intestinal malrotation, and hypotonic bladder.
|
23613326 |
2013 |
|
rs2277382
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The genotyping of 22 SNP including the latter showed that only rs2277382 was associated with SSc-PAH (p=0.0066, OR 2.13, 95% CI 1.24 to 3.65).
|
22896741 |
2012 |
|
rs5743704
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among patients with SSc, the rare TLR2 Pro631His variant is robustly associated with antitopoisomerase positivity, the diffuse form of the disease, and the development of PAH.
|
21905008 |
2012 |
|
rs344781
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the Italian cohort, the rs344781 G allele was associated with SSc-related digital ulceration (odds ratio [OR] 1.39), pulm</span>onary arterial hypertension (PAH) (OR 1.81), anticentromere antibody (ACA) positivity (OR 1.45), and limited cutaneous SSc (lcSSc) (OR 1.37).
|
20967855 |
2011 |
|
rs10744676
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results provide the first evidence for an association between the KCNA5 rs10744676 variant and PAH associated with SSc.
|
20556823 |
2010 |