Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal-recessive, non-inflammatory arthropathy, shown to be caused by mutations in the WNT1-inducible signaling pathway protein 3 (WISP3) gene.
|
30922245 |
2019 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive skeletal dysplasia caused by mutations in the Wnt1-inducible signaling pathway protein 3 (WISP3) gene.
|
30635069 |
2019 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
WISP3 gene was found to be a causative gene for progressive pseudorheumatoid dysplasia (PPD).
|
29680248 |
2018 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Moreover, 25-OCH<sub>3</sub>-PPD significantly inhibited glucose-regulated protein 78 (GRP78; the major ER stress marker) expression in TM-induced ER stress in HepG2 and HEK293T cells, suggesting that 25-OCH<sub>3</sub>-PPD could attenuate ER stress in these cells.
|
30096296 |
2018 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
WISP3 mutation associated with pseudorheumatoid dysplasia.
|
29092958 |
2018 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
WISP3 mutation associated with pseudorheumatoid dysplasia.
|
29092958 |
2018 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Cell-mediated immunity was characterized in whole blood samples as the differential release of interferon-gamma in response to bovine purified protein derivative (PPDb) and avian PPD (PPDa) as well as the release of this cytokine in response to the <i>M. bovis</i> proteins 6 kDa early secretory antigenic target (ESAT-6)/10 kDa culture filtrate protein (CFP-10).
|
29312328 |
2017 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The tuberculin skin test (TST), the Quantiferon (QFT) and a prolonged lymphocyte stimulation test using either ESAT-6/CFP-10 (LST-EC) or PPD (LST-PPD) were evaluated in a cohort of 495 individuals, suspected to have LTBI, in a low endemic country.
|
28802407 |
2017 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the WISP3 (Wnt1-inducible signal pathway) gene are known to be the cause of PPD.
|
29246200 |
2017 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198.
|
27436824 |
2016 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Homozygous or compound heterozygous WISP3 mutations cause PPD.
|
26991965 |
2016 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.
|
27291587 |
2016 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198.
|
27436824 |
2016 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
The results of the present study expand the WISP3 mutation spectrum that is associated with PPD and aid in further elucidating the function of WISP3.
|
25738435 |
2015 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Our study suggests that novel C223G and C252X mutations in exon 4 of the WISP3 gene are responsible for PPD in Chinese patients.
|
25794430 |
2015 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Progressive pseudorheumatoid dysplasia (PPRD) is a rare, autosomal-recessive condition characterized by mild spondyloepiphyseal dysplasia (SED) and severe, progressive, early-onset arthritis due to WISP3 mutations.
|
26183434 |
2015 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Novel and recurrent mutations in WISP3 and an atypical phenotype.
|
25988854 |
2015 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The results of the present study expand the WISP3 mutation spectrum that is associated with PPD and aid in further elucidating the function of WISP3.
|
25738435 |
2015 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study suggests that novel C223G and C252X mutations in exon 4 of the WISP3 gene are responsible for PPD in Chinese patients.
|
25794430 |
2015 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel and recurrent mutations in WISP3 and an atypical phenotype.
|
25988854 |
2015 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study contributed to the further expansion of the WISP3 mutation spectrum, and demonstrated the genotype-phenotype relationship between mutations in the WISP3 gene and clinical findings of SEDT-PA.
|
25553839 |
2015 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
Biomarker
|
disease |
MGD |
Individuals with the autosomal recessive skeletal disorder Progressive Pseudorheumatoid Dysplasia have loss-of-function mutations in WISP3, and aberrant WISP3 expression has been detected in tumors from patients with colon and breast cancer.
|
24040393 |
2013 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis.
|
23270760 |
2013 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
WISP3 gene mutations are associated with progressive pseudorheumatoid dysplasia (PPD, OMIM208230), an autosomal recessive genetic disease that is characterized by the swelling of multiple joints and disproportionate dwarfism.
|
22685593 |
2012 |
Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the WISP3 gene is useful for confirming the clinical and radiographic diagnosis of PPD.
|
21993478 |
2012 |