|
Condyloma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Efficacy of sinecatechins 10% as proactive sequential therapy of external genital warts after laser CO<sub>2</sub> ablative therapy: The PACT study (post-ablation immunomodulator treatment of condylomata with sinecatechins): a randomized, masked outcome assessment, multicenter trial.
|
30236042 |
2019 |
|
Congenital Abnormality
|
0.010 |
Biomarker
|
group |
BEFREE |
We therefore report a mutational analysis of GSC, HOXA2 and PRKRA in 106 congenital microtia patients without any combined malformation to explore the relationship between GSC, HOXA2, PRKRA and nonsyndromic microtia.
|
28109504 |
2017 |
|
Congenital small ears
|
0.010 |
Biomarker
|
disease |
BEFREE |
We therefore report a mutational analysis of GSC, HOXA2 and PRKRA in 106 congenital microtia patients without any combined malformation to explore the relationship between GSC, HOXA2, PRKRA and nonsyndromic microtia.
|
28109504 |
2017 |
|
Craniofacial Abnormalities
|
0.300 |
Biomarker
|
group |
CTD_human |
Missense mutation in the second RNA binding domain reveals a role for Prkra (PACT/RAX) during skull development.
|
22194846 |
2011 |
|
Craniosynostosis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Among the tested components, only PACT mRNA expression was found to be altered in CRS, the levels of which were upregulated in CRSwNP as compared with control.
|
22961479 |
2012 |
|
Deep Vein Thrombosis
|
0.020 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to compare EQ-5D-5L against the pulmonary embolism (PE)-specific PEmb-QoL and the deep vein thrombosis (DVT)-specific VEINES-QOL/Sym, and PACT-Q2 (treatment-specific) questionnaires in five language settings.
|
30607785 |
2019 |
|
Deep Vein Thrombosis
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Background The multicenter, single-blind, randomized EU-PACT trial compared the safety and efficacy of genotype-guided and non-genetic dosing algorithms for acenocoumarol and phenprocoumon in patients with atrial fibrillation or deep vein thrombosis.
|
28063245 |
2017 |
|
Deformity
|
0.010 |
Biomarker
|
group |
BEFREE |
We therefore report a mutational analysis of GSC, HOXA2 and PRKRA in 106 congenital microtia patients without any combined malformation to explore the relationship between GSC, HOXA2, PRKRA and nonsyndromic microtia.
|
28109504 |
2017 |
|
Deglutition Disorders
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
Delayed speech and language development
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Dermatitis, Atopic
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
We further identified previously unreported pleiotropic alleles with opposing effects on atopic dermatitis and psoriasis risk in PRKRA and ANXA6/TNIP1.
|
25574825 |
2015 |
|
Dermatitis, Atopic
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.
|
25574825 |
2015 |
|
Diabetes Mellitus, Experimental
|
0.200 |
Biomarker
|
disease |
RGD |
Expression and cellular localization of microRNA-29b and RAX, an activator of the RNA-dependent protein kinase (PKR), in the retina of streptozotocin-induced diabetic rats.
|
21897745 |
2011 |
|
Dysarthria
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Dyskinetic syndrome
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
We summarize recently discovered genes and loci, including the 1) detection of two primary dystonia genes (DYT6, DYT16), 2) identification of the DYT17 locus, 3) association of a dystonia/dyskinesia phenotype with a gene previously linked to GLUT1 (glucose transporter of the blood-brain barrier) deficiency syndrome (DYT18), 4) designation of paroxysmal kinesigenic and nonkinesigenic dyskinesia as DYT19 and DYT20, and 5) redefinition of DYT14 as DYT5.
|
20425035 |
2010 |
|
Dyskinetic syndrome
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Dysphonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Dystonia
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
Because different mutations in the same gene can result in diverse phenotypes, we sequenced all coding exons of the DYT1, DYT5a, DYT5b, DYT6, DYT11, DYT12, and DYT16 genes in 44 CRPS patients with fixed dystonia to investigate whether high-penetrant causal mutations play a role in CRPS.
|
20066431 |
2010 |
|
Dystonia
|
0.600 |
Biomarker
|
phenotype |
CTD_human |
|
|
|
|
Dystonia
|
0.600 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
PRKRA mutational screening in additional dystonia samples revealed three novel heterozygous changes (p.Thr34Ser, p.Asn102Ser, c.-14A>G), each in a single subject with focal/segmental dystonia.
|
25142429 |
2014 |
|
Dystonia
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
We cover dopa-responsive dystonia, Wilson's disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked dystonia-parkinsonism/Lubag (DYT3), rapid-onset dystonia-parkinsonism (DYT12) and DYT16 dystonia, the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) including pantothenate kinase (PANK2)- and PLA2G6 (PARK14)-associated neurodegeneration, neuroferritinopathy, Kufor-Rakeb disease (PARK9) and the recently described SENDA syndrome; FBXO7-associated neurodegeneration (PARK15), autosomal-recessive spastic paraplegia with a thin corpus callosum (SPG11), and dystonia parkinsonism due to mutations in the SLC6A3 gene encoding the dopamine transporter.
|
20694531 |
2010 |
|
Dystonia
|
0.600 |
GeneticVariation
|
phenotype |
LHGDN |
A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.
|
18420150 |
2008 |
|
Dystonia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
A recessively inherited form of early-onset dystonia DYT16 has been recently identified to arise due to a homozygous missense mutation P222L in PACT.
|
26231208 |
2015 |
|
Dystonia
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
PRKRA is not an unusual cause of idiopathic dystonia.
|
29279192 |
2018 |
|
Dystonia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Combined dystonias (with parkinsonism or myoclonus) are further subdivided into persistent (TAF1 [DYT3], GCHI [DYT5], SGCE [DYT11], ATP1A3 [DYT12]), PRKRA (DYT16), and paroxysmal (MR-1 [DYT8], PRRT2 [DYT10], SLC2A1 [DYT18].
|
23893446 |
2013 |