|
Robinow Syndrome
|
0.850 |
GeneticVariation
|
disease |
BEFREE |
In conjunction with published observations of Wnt5a double knockout mice, we provide evidence for the possibility of autosomal recessive inheritance in association with WNT5A loss-of-function mutations in RS.
|
29575631 |
2018 |
|
Robinow Syndrome
|
0.850 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant RS is caused by missense mutations in WNT5A or nonsense mutations in the adaptor protein DVL1 or DVL3.
|
28662348 |
2017 |
|
Robinow Syndrome
|
0.850 |
CausalMutation
|
disease |
CLINVAR |
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.
|
24716670 |
2015 |
|
Robinow Syndrome
|
0.850 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ROR2 gene cause autosomal recessive RS (RRS) whereas mutations in WNT5A are responsible for the autosomal dominant (AD) form of RS.
|
24932600 |
2014 |
|
Robinow Syndrome
|
0.850 |
GeneticVariation
|
disease |
BEFREE |
In the human, mutations of WNT5A or its receptor ROR2 cause the Robinow syndrome.
|
23850867 |
2013 |
|
Robinow Syndrome
|
0.850 |
CausalMutation
|
disease |
CLINVAR |
Here, we show that two different missense mutations in WNT5A, which result in amino acid substitutions of highly conserved cysteines, are associated with autosomal dominant Robinow syndrome.
|
19918918 |
2010 |
|
Robinow Syndrome
|
0.850 |
GeneticVariation
|
disease |
BEFREE |
The etiology of dominant Robinow syndrome is unknown; however, the phenotypically more severe autosomal recessive form of Robinow syndrome has been associated with mutations in the orphan tyrosine kinase receptor, ROR2, which has recently been identified as a putative WNT5A receptor.
|
19918918 |
2010 |
|
Robinow Syndrome
|
0.850 |
GermlineCausalMutation
|
disease |
ORPHANET |
Here, we show that two different missense mutations in WNT5A, which result in amino acid substitutions of highly conserved cysteines, are associated with autosomal dominant Robinow syndrome.
|
19918918 |
2010 |
|
Robinow Syndrome
|
0.850 |
Biomarker
|
disease |
MGD |
|
|
|
|
Robinow Syndrome
|
0.850 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
WNT5A mutations in patients with autosomal dominant Robinow syndrome.
|
19918918 |
2010 |
|
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
WNT5A mutations in patients with autosomal dominant Robinow syndrome.
|
19918918 |
2010 |
|
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Malignant neoplasm of lung
|
0.340 |
AlteredExpression
|
disease |
BEFREE |
Additionally, we detected enriched expression of WNT5A and DLX5 in normal human lung epithelial 16HBE cells and human lung cancer H1299 cells in vitro.
|
30901718 |
2019 |
|
Malignant neoplasm of lung
|
0.340 |
AlteredExpression
|
disease |
BEFREE |
Non-canonical Wnt5a and canonical Wnt7b and ABC transporter expressions were tested in primary human LC (n = 90) resections of AC and SCC.
|
28340578 |
2017 |
|
Malignant neoplasm of lung
|
0.340 |
Biomarker
|
disease |
BEFREE |
We investigated the associations between Wnt5a and the early development of cigarette smoke related lung cancer using human bronchial epithelial (HBE) cells (NHBE, BEAS-2B, 1799, 1198 and 1170I) at different malignant stages established by exposure to cigarette smoke condensate (CSC).
|
23349696 |
2013 |
|
Malignant neoplasm of lung
|
0.340 |
Biomarker
|
disease |
CTD_human |
We investigated the associations between Wnt5a and the early development of cigarette smoke related lung cancer using human bronchial epithelial (HBE) cells (NHBE, BEAS-2B, 1799, 1198 and 1170I) at different malignant stages established by exposure to cigarette smoke condensate (CSC).
|
23349696 |
2013 |
|
Malignant neoplasm of lung
|
0.340 |
AlteredExpression
|
disease |
BEFREE |
Western blot and quantitative RT-PCR array experiments showed that TSC exposure as well as knockdown of Dkk-1 activated Wnt signaling and significantly up-regulated Wnt5a in lung cancer cells.
|
19351856 |
2009 |
|
Idiopathic Pulmonary Fibrosis
|
0.330 |
Biomarker
|
disease |
BEFREE |
The non-canonical Wnt signaling representative ligand Wnt5a was recently found to involve in idiopathic pulmonary fibrosis (IPF) and pathogenesis of RA.
|
31072629 |
2019 |
|
Usual Interstitial Pneumonia
|
0.330 |
Biomarker
|
disease |
BEFREE |
More importantly, the disease severity was correlated with the circulating Wnt5a as ascertained by high-resolution computed tomography (HRCT)-UIP scores.
|
31072629 |
2019 |
|
Idiopathic Pulmonary Fibrosis
|
0.330 |
Biomarker
|
disease |
CTD_human |
MicroRNA-101 attenuates pulmonary fibrosis by inhibiting fibroblast proliferation and activation.
|
28726637 |
2017 |
|
Usual Interstitial Pneumonia
|
0.330 |
Biomarker
|
disease |
CTD_human |
MicroRNA-101 attenuates pulmonary fibrosis by inhibiting fibroblast proliferation and activation.
|
28726637 |
2017 |
|
Idiopathic Pulmonary Fibrosis
|
0.330 |
AlteredExpression
|
disease |
BEFREE |
The results demonstrate a wide distribution of Wnt5A expression in cells of the IPF lung and reveal that it is significantly increased by Wnt7B and TGF-β1, which, in combination, could represent key signaling pathways that modulate the pathogenesis of IPF.
|
26538547 |
2016 |