|
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
|
27479907 |
2016 |
|
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
|
25529582 |
2015 |
|
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Colorectal Carcinoma
|
0.510 |
AlteredExpression
|
disease |
BEFREE |
Suppression of PKD using the small molecule inhibitors CRT0066101 and kb-NB142-70 resulted in low micromolar in vitro antiproliferative activity against multiple human colorectal cancer cell lines.
|
24634417 |
2014 |
|
Colorectal Carcinoma
|
0.510 |
Biomarker
|
disease |
CTD_human |
Genomic and epigenomic integration identifies a prognostic signature in colon cancer.
|
21278247 |
2011 |
|
Colorectal Carcinoma
|
0.510 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Adenocarcinoma
|
0.350 |
GeneticVariation
|
group |
BEFREE |
The PRKD1 E710D hotspot mutation is highly specific in separating polymorphous adenocarcinoma of the palate from adenoid cystic carcinoma and pleomorphic adenoma on FNA.
|
29266837 |
2018 |
|
Adenocarcinoma
|
0.350 |
GeneticVariation
|
group |
BEFREE |
Polymorphous (low-grade) adenocarcinomas are characterized by hot spot point E710D mutations in the PRKD1 gene, whereas cribriform adenocarcinoma of (minor) salivary glands origin are characterized by translocations involving the PRKD1-3 genes.
|
29076877 |
2018 |
|
Adenocarcinoma
|
0.350 |
GeneticVariation
|
group |
BEFREE |
Lack of PRKD2 and PRKD3 kinase domain somatic mutations in PRKD1 wild-type classic polymorphous low-grade adenocarcinomas of the salivary gland.
|
26426580 |
2016 |
|
Adenocarcinoma
|
0.350 |
GeneticVariation
|
group |
BEFREE |
Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands.
|
25240283 |
2014 |
|
Adenocarcinoma
|
0.350 |
Biomarker
|
group |
CTD_human |
Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands.
|
25240283 |
2014 |
|
Adenocarcinoma
|
0.350 |
GeneticVariation
|
group |
BEFREE |
Salivary gland polymorphous low-grade adenocarcinomas commonly harbor activating PRKD1 mutations.
|
25367945 |
2014 |
|
Metastatic melanoma
|
0.310 |
Biomarker
|
disease |
BEFREE |
In conclusion, our study suggests, for the first time, that while cPKCs don't embody a pertinent therapeutic target, inhibition of PKD1 represents a novel attractive approach for the treatment of metastatic melanoma.
|
28056869 |
2017 |
|
Metastatic melanoma
|
0.310 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Asthma, Occupational
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genes Interacting with Occupational Exposures to Low Molecular Weight Agents and Irritants on Adult-Onset Asthma in Three European Studies.
|
27504716 |
2017 |
|
Salivary Gland Neoplasms
|
0.300 |
Biomarker
|
group |
CTD_human |
Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands.
|
25240283 |
2014 |
|
Adenocarcinoma, Basal Cell
|
0.300 |
Biomarker
|
disease |
CTD_human |
Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands.
|
25240283 |
2014 |
|
Adenocarcinoma, Oxyphilic
|
0.300 |
Biomarker
|
disease |
CTD_human |
Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands.
|
25240283 |
2014 |
|
Carcinoma, Cribriform
|
0.300 |
Biomarker
|
disease |
CTD_human |
Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands.
|
25240283 |
2014 |
|
Carcinoma, Granular Cell
|
0.300 |
Biomarker
|
disease |
CTD_human |
Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands.
|
25240283 |
2014 |
|
Adenocarcinoma, Tubular
|
0.300 |
Biomarker
|
disease |
CTD_human |
Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands.
|
25240283 |
2014 |
|
Malignant neoplasm of salivary gland
|
0.300 |
Biomarker
|
disease |
CTD_human |
Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands.
|
25240283 |
2014 |
|
Colorectal Neoplasms
|
0.300 |
Biomarker
|
group |
CTD_human |
Genomic and epigenomic integration identifies a prognostic signature in colon cancer.
|
21278247 |
2011 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Our results demonstrated that (1) PACs/CASGs are underpinned by genetic alterations affecting PRKD genes; (2) despite the associations between PAC and PRKD1 hotspot mutations and CASG and PRKD1/2/3 fusion, such distinction is not absolute; and (3) there is of a novel genotypic-phenotypic association whereby fusion-positive tumors are usually located in the base of the tongue, show papillary architecture and have a high risk of nodal metastasis.
|
31492931 |
2020 |