SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
We report on a 5-year-old girl with the classic phenotype of SMED, SL-AC in whom a novel homozygous nonsense mutation in DDR2 was detected using exome sequencing.
|
29884795 |
2018 |
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
We report here a novel DDR2 missense mutation, c.370C > T (p.Arg124Trp) in a Moroccan girl with SMED, SL-AC, identified by whole exome sequencing.
|
26463668 |
2016 |
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
We report here a novel DDR2 missense mutation, c.370C > T (p.Arg124Trp) in a Moroccan girl with SMED, SL-AC, identified by whole exome sequencing.
|
26463668 |
2016 |
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Another DDR2 missense mutation, c.2254C>T (p.R752C), matching one of the previously reported SMED-SL mutations, was found in a second affected family.
|
20223752 |
2010 |
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Another DDR2 missense mutation, c.2254C>T (p.R752C), matching one of the previously reported SMED-SL mutations, was found in a second affected family.
|
20223752 |
2010 |
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
|
0.730 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.
|
19110212 |
2009 |
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.
|
19110212 |
2009 |
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.
|
8434618 |
1993 |
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
|
0.730 |
Biomarker
|
disease |
CTD_human |
|
|
|
Squamous cell carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The Q808H variation in the DDR2 gene was detected in one SCC sample, while no variant was seen in the ADC and LCC subtypes.
|
30048458 |
2018 |
Squamous cell carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our data indicate that DDR2 is a potent biomarker that can be used as an effective therapeutic target for treating OSCC patients with lymph node metastasis.
|
29945346 |
2018 |
Squamous cell carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We identified novel somatic mutations of DDR2 in two of the 100 SCC samples studied.
|
28161936 |
2017 |
Squamous cell carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Furthermore we found potentially targetable DDR2 mutations at a frequency of 3% in both adenocarcinomas and squamous cell carcinomas.
|
26102443 |
2015 |
Squamous cell carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our results highlight potential RTK-driven adaptive-resistant mechanisms upon DDR2 targeting, and they suggest new, rationale cotargeting strategies for DDR2-mutant lung SCC.
|
25348954 |
2014 |
Squamous cell carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
This article summarizes the current state of knowledge of DDR2 biology and signaling in lung squamous cell cancer.
|
24828669 |
2014 |
Squamous cell carcinoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Expression of DDR2 mRNA was analyzed in 54 lung SCC tissues by qRT-PCR.
|
24885564 |
2014 |
Squamous cell carcinoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Response to dasatinib in a patient with SQCC of the lung harboring a discoid-receptor-2 and synchronous chronic myelogenous leukemia.
|
23932362 |
2013 |
Squamous cell carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report a patient with squamous cell carcinoma (SQCC) of the lung and a discoid-receptor-2 (DDR2) kinase domain mutation that responded to dasatinib treatment.
|
23932362 |
2013 |
Squamous cell carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Targeted proteomic profiling of a panel of lung SCC (squamous cell carcinoma) DDR2 mutants demonstrated that SHP-2 is tyrosine-phosphorylated by the L63V and G505S mutants.
|
23822953 |
2013 |
Squamous cell carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
DDR2 and FGFR2 only presented in smokers with SCC (4.4% and 2.2%, respectively).
|
22768234 |
2012 |
Squamous cell carcinoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the DDR2 kinase gene identify a novel therapeutic target in squamous cell lung cancer.
|
22328973 |
2011 |
Squamous cell carcinoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Inhibition of collagen-induced discoidin domain receptor 1 and 2 activation by imatinib, nilotinib and dasatinib.
|
18938156 |
2008 |
Squamous cell carcinoma
|
0.500 |
CausalMutation
|
disease |
CGI |
|
|
|
Squamous cell carcinoma of lung
|
0.490 |
Biomarker
|
disease |
BEFREE |
We conducted further optimization of dual enzymatic inhibitions towards FGFR1 and DDR2, two important kinases in lung squamous cell carcinoma.
|
30572178 |
2019 |