|
Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutant WISP3 triggers the phenotype shift of articular chondrocytes by promoting sensitivity to IGF-1 hypothesis of spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA).
|
17363178 |
2007 |
|
Progressive pseudorheumatoid dysplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Progressive pseudorheumatoid dysplasia
|
1.000 |
Biomarker
|
disease |
MGD |
Surprisingly, homozygous Wisp3 mutant mice appear normal and do not recapitulate any of the morphological, radiographic, or histological abnormalities seen in patients with PPD.
|
15601861 |
2005 |
|
Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study aimed to characterize the clinical manifestations and features of PPD and screen the mutations of the disease causing WISP3, and try to elucidate the molecular pathogenesis of PPD.
|
19064006 |
2009 |
|
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 |
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 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Using a positional-candidate approach, we found that mutations in the CCN family member WISP3 are associated with the autosomal recessive skeletal disorder progressive pseudorheumatoid dysplasia (PPD; MIM 208230).
|
10471507 |
1999 |
|
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 |
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 |
Mutation analysis of the WISP3 gene is useful for confirming the clinical and radiographic diagnosis of PPD.
|
21993478 |
2012 |
|
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 |
CLINVAR |
Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy.
|
12819927 |
2004 |
|
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 |
We hereby report the molecular study of the WISP3 gene in nine unrelated consanguineous families originating from the Middle-East: three from Lebanon, five from Syria, and one from Palestinian Bedouin descent, all affected with PPD.
|
16152649 |
2005 |
|
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Using a positional-candidate approach, we found that mutations in the CCN family member WISP3 are associated with the autosomal recessive skeletal disorder progressive pseudorheumatoid dysplasia (PPD; MIM 208230).
|
10471507 |
1999 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Using a positional-candidate approach, we found that mutations in the CCN family member WISP3 are associated with the autosomal recessive skeletal disorder progressive pseudorheumatoid dysplasia (PPD; MIM 208230).
|
10471507 |
1999 |
|
Progressive pseudorheumatoid dysplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
This is the largest cohort of patients with PPD in the literature and the first report from India on mutation analysis of WISP3.
|
22987568 |
2012 |
|
Progressive pseudorheumatoid dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the largest cohort of patients with PPD in the literature and the first report from India on mutation analysis of WISP3.
|
22987568 |
2012 |
|
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 |