|
NEPHROTIC SYNDROME, TYPE 3
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome.
|
20591883 |
2010 |
|
NEPHROTIC SYNDROME, TYPE 3
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Second, the recent identification of autosomal recessive nephrotic syndrome type 3 (NPHS3) caused by mutations in the phospholipase PLCE1 gene has, for the first time, shown steroid responsiveness in H-CHNS.
|
18270750 |
2008 |
|
NEPHROTIC SYNDROME, TYPE 3
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
|
17086182 |
2006 |
|
NEPHROTIC SYNDROME, TYPE 3
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
NEPHROTIC SYNDROME, TYPE 3
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
NEPHROTIC SYNDROME, TYPE 3
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
NEPHROTIC SYNDROME, TYPE 3
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Squamous cell carcinoma of esophagus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
An Association and Meta-Analysis of Esophageal Squamous Cell Carcinoma Risk Associated with PLCE1 rs2274223, C20orf54 rs13042395 and RUNX1 rs2014300 Polymorphisms.
|
30666517 |
2019 |
|
Squamous cell carcinoma of esophagus
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our study identified and validated that this immunohistochemical biomarker panel of 3 proteins, consisting of PLCE1, IKBα, and p53, is not only independently associated with an unfavorable outcome for ESCC patients but also able to predict disease progression to precancerous lesions.
|
30537494 |
2019 |
|
Squamous cell carcinoma of esophagus
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
PLCE1 was a direct target of miR-145, and the expression of PLCE1 was inversely correlated with miR-145 expression in ESCC tissues.
|
30652343 |
2019 |
|
Squamous cell carcinoma of esophagus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In additional, five variants on five genes were rated as strong cumulative epidemiological evidence for a nominally significant association with EC and ESCC risk, including CYP1A1 rs1048943, EGF rs444903, HOTAIR rs920778, MMP2 rs243865, and PLCE1 rs2274223, 10 variants were rated as moderate, and 18 variants were rated as weak.
|
30793520 |
2019 |
|
Squamous cell carcinoma of esophagus
|
0.500 |
Biomarker
|
disease |
BEFREE |
In conclusion, genetic variants of the EGFR/PLCE1 may be predictors of the prognosis of ESCC after surgery.
|
31209807 |
2019 |
|
Squamous cell carcinoma of esophagus
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We report that hypomethylation-associated up-regulation of PLCE1 expression was correlated with tumor angiogenesis and poor prognosis in ESCC cohorts.
|
30609930 |
2019 |
|
Squamous cell carcinoma of esophagus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Therefore, repression of PLCE1 transcription may be the underlying mechanism for the rs71031566[CATTT] variant to be susceptible to ESCC.
|
29106514 |
2018 |
|
Squamous cell carcinoma of esophagus
|
0.500 |
Biomarker
|
disease |
BEFREE |
Taken together, these results showed that the knockdown of PLCE1 may play a vital role in the control of ESCC.
|
29238898 |
2018 |
|
Squamous cell carcinoma of esophagus
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Moreover, PLCE1 is overexpressed in ESCC tumors and promotes tumorigenicity <i>in vivo</i> and vitro.
|
29190930 |
2017 |
|
Squamous cell carcinoma of esophagus
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Previous reports show that phospholipase C epsilon-1 (<i>PLCE1</i>) expression is positively correlated with esophageal squamous cell carcinoma and gastric cardia adenocarcinomas; however, the expression of <i>PLCE1</i> in hepatocellular carcinoma (HCC) and its correlation with clinical outcome still remain unclear.
|
28031722 |
2017 |
|
Squamous cell carcinoma of esophagus
|
0.500 |
Biomarker
|
disease |
BEFREE |
The present study aimed to identify key differentially expressed genes (DEGs) and signaling pathways regulated by PLCE1 in ESCC.
|
28849204 |
2017 |
|
Squamous cell carcinoma of esophagus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our results further validate that the SNPs in PLCE1 gene may contribute to the ESCC susceptibility in Chinese Han population.
|
27061010 |
2017 |
|
Squamous cell carcinoma of esophagus
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Moreover, miR-145 was expressed at low levels in a large cohort of patients with ESCC and was inversely correlated with PLCE1 protein expression in cancer cells and tissues.
|
26657507 |
2016 |
|
Squamous cell carcinoma of esophagus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This meta-analysis demonstrated that PLCE1 rs2274223 A > G polymorphism may be associated with increased susceptibility to cancer, especially for ESCC.
|
25614244 |
2015 |
|
Squamous cell carcinoma of esophagus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We hypothesized that genetic polymorphisms of phospholipase C epsilon 1 and C20orf54 are also associated with ESCC in a Korean population.
|
24152165 |
2015 |
|
Squamous cell carcinoma of esophagus
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.
|
25129146 |
2014 |
|
Squamous cell carcinoma of esophagus
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PLCE1 polymorphisms were not associated with susceptibility to ESCC or its clinical phenotypes (tumor location/lymph node metastasis).
|
25139097 |
2014 |
|
Squamous cell carcinoma of esophagus
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Compared with normal tissues, PLCE1 mRNA expression was significantly reduced in ESCC tumors (P = 0.03, probe_205112_at), as well as in GCA and GNCA tumors (P < 0.0001, each probe).
|
24867265 |
2014 |