|
Intellectual Disability
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
|
25558065 |
2015 |
|
Brain atrophy
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.
|
29899372 |
2018 |
|
Brain atrophy
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
|
29632382 |
2018 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Global developmental delay
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Neoplasms
|
0.050 |
Biomarker
|
group |
BEFREE |
The ESCRT member HD-PTP/<i>PTPN23</i> was recently identified as a novel haplo-insufficient tumour suppressor <i>in vitro</i> and <i>in vivo</i>, in mice and humans.
|
28620046 |
2017 |
|
Neoplasms
|
0.050 |
Biomarker
|
group |
BEFREE |
We demonstrated that tumor outgrowth from PTPN23-deficient BT474 cells was suppressed in a xenograft model in vivo upon treatment with AZD0530, an SFK inhibitor.
|
29066500 |
2017 |
|
Neoplasms
|
0.050 |
Biomarker
|
group |
BEFREE |
Altogether, we establish HD-PTP/PTPN23 as a prominent haploinsufficient tumor suppressor gene preventing tumor progression through control of integrin trafficking.
|
27210750 |
2016 |
|
Neoplasms
|
0.050 |
Biomarker
|
group |
BEFREE |
These data indicate that PTPN23 functions as a tumor suppressor in TGCTs.
|
23843459 |
2013 |
|
Neoplasms
|
0.050 |
PosttranslationalModification
|
group |
BEFREE |
These findings suggest that loss of PTPN23 may increase the activity of SRC and the phosphorylation status of the E-cadherin/β-catenin signaling complex to promote tumor growth and invasive behavior in breast cancer.
|
21724833 |
2011 |
|
Carcinogenesis
|
0.040 |
Biomarker
|
phenotype |
BEFREE |
In this mini-review, we outline the role of the ESCRT components in cancer and summarize the functions of HD-PTP/<i>PTPN23</i> in tumorigenesis.
|
28620046 |
2017 |
|
Carcinogenesis
|
0.040 |
Biomarker
|
phenotype |
BEFREE |
We validated the underlying mechanism of PTPN23 function in breast tumorigenesis as that of a key phosphatase that normally suppresses the activity of FYN in two different models.
|
29066500 |
2017 |
|
Carcinogenesis
|
0.040 |
Biomarker
|
phenotype |
BEFREE |
Here, we show that loss of function of an ESCRT protein (HD-PTP encoded by the PTPN23 gene, located on the tumor suppressor gene cluster 3p21.3) drives tumorigenesis in vivo.
|
27210750 |
2016 |
|
Carcinogenesis
|
0.040 |
Biomarker
|
phenotype |
BEFREE |
Protein-tyrosine phosphatase non-receptor type 23 (PTPN23) is a candidate tumor suppressor involved in the tumorigenesis of various organs.
|
23843459 |
2013 |
|
Tumor Cell Invasion
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
In a loss-of-function PTPome screen, our laboratory identified PTPN23 as a suppressor of cell motility and invasion in mammary epithelial and breast cancer cells.
|
29066500 |
2017 |
|
Tumor Cell Invasion
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
Consistent with the role of HD-PTP in attenuation of integrin recycling, cell migration, and invasion, hemizygous Ptpn23(+/-) loss increases integrin β1-dependent B cell lymphoma survival and dissemination.
|
27210750 |
2016 |
|
Tumor Cell Invasion
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
Identification of PTPN23 as a novel regulator of cell invasion in mammary epithelial cells from a loss-of-function screen of the 'PTP-ome'.
|
21724833 |
2011 |
|
Epileptic encephalopathy
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.
|
29899372 |
2018 |
|
Malignant neoplasm of breast
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Now, our TCGA (The Cancer Genome Atlas) database analyses illustrate a correlation between low PTPN23 expression and poor survival in breast cancers of various subtypes.
|
29066500 |
2017 |
|
Malignant Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
In this mini-review, we outline the role of the ESCRT components in cancer and summarize the functions of HD-PTP/<i>PTPN23</i> in tumorigenesis.
|
28620046 |
2017 |
|
Epileptic encephalopathy
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Mutations of PTPN23 in developmental and epileptic encephalopathy.
|
29090338 |
2017 |
|
Breast Carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Overall, this mechanistic analysis of the tumor-suppressive function of PTPN23 in breast cancer supports the identification of FYN as a therapeutic target for breast tumors with heterozygous or homozygous loss of <i>PTPN23</i>.
|
29066500 |
2017 |
|
Primary malignant neoplasm
|
0.020 |
Biomarker
|
group |
BEFREE |
In this mini-review, we outline the role of the ESCRT components in cancer and summarize the functions of HD-PTP/<i>PTPN23</i> in tumorigenesis.
|
28620046 |
2017 |
|
Malignant Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
Haploinsufficiency of the ESCRT Component HD-PTP Predisposes to Cancer.
|
27210750 |
2016 |