|
Primrose syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.
|
31821719 |
2020 |
|
Primrose syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.
|
30637921 |
2019 |
|
Primrose syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Both Patients 1 and 2 were found to carry heterozygous likely pathogenic missense variants, detected in the last coding exon of ZBTB20 (c.1822T>C, p.Cys608Arg, de novo, and c.1873A>G, p.Met625Val, respectively), consistent with PRIMS.
|
31321892 |
2019 |
|
Primrose syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Here, we report novel de novo ZBTB20 mutations in three independent cases with characteristic features of Primrose syndrome including constant CCA.
|
29681083 |
2018 |
|
Primrose syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Our data document that both mutations have dominant negative impact on wild-type ZBTB20, providing further evidence of the specific behavior of PS-causing mutations on ZBTB20 function.
|
29737001 |
2018 |
|
Primrose syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
|
27061120 |
2016 |
|
Primrose syndrome
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome.
|
25017102 |
2014 |
|
Primrose syndrome
|
0.770 |
Biomarker
|
disease |
CTD_human |
We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome.
|
25017102 |
2014 |
|
Primrose syndrome
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome.
|
25017102 |
2014 |
|
Primrose syndrome
|
0.770 |
GermlineCausalMutation
|
disease |
ORPHANET |
We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome.
|
25017102 |
2014 |
|
Primrose syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome.
|
25017102 |
2014 |
|
Primrose syndrome
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Motor tics, stereotypies, and self-flagellation in primrose syndrome.
|
20644156 |
2010 |
|
Primrose syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Primrose syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Primrose syndrome
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Malignant neoplasm of stomach
|
0.430 |
Biomarker
|
disease |
BEFREE |
Therefore, our findings emphasize an important role for ZBTB20 in controlling gastric cancer development, which is helpful to identify potential therapeutic targets for its treatment.
|
31556767 |
2019 |
|
Malignant neoplasm of stomach
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
Those subjects with both the risk alleles MUC1 rs9841504 and ZBTB20 rs4072037 had a greater than 3-fold increased risk of gastric cancer.
|
27127881 |
2016 |
|
Malignant neoplasm of stomach
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
Genetic variations in the PRKAA1 and ZBTB20 genes and gastric cancer susceptibility in a Korean population.
|
23861218 |
2013 |
|
Malignant neoplasm of stomach
|
0.430 |
Biomarker
|
disease |
CTD_human |
We identified two new susceptibility loci for non-cardia gastric cancer at 5p13.1 (rs13361707 in the region including PTGER4 and PRKAA1; odds ratio (OR) = 1.41; P = 7.6 × 10(-29)) and 3q13.31 (rs9841504 in ZBTB20; OR = 0.76; P = 1.7 × 10(-9)).
|
22037551 |
2011 |
|
Malignant neoplasm of stomach
|
0.430 |
GeneticVariation
|
disease |
GWASDB |
We identified two new susceptibility loci for non-cardia gastric cancer at 5p13.1 (rs13361707 in the region including PTGER4 and PRKAA1; odds ratio (OR) = 1.41; P = 7.6 × 10(-29)) and 3q13.31 (rs9841504 in ZBTB20; OR = 0.76; P = 1.7 × 10(-9)).
|
22037551 |
2011 |
|
Precancerous Conditions
|
0.300 |
Biomarker
|
group |
CTD_human |
Environmental factors, seven GWAS-identified susceptibility loci, and risk of gastric cancer and its precursors in a Chinese population.
|
28220687 |
2017 |
|
Prostatic Neoplasms
|
0.300 |
Biomarker
|
group |
CTD_human |
A single-copy Sleeping Beauty transposon mutagenesis screen identifies new PTEN-cooperating tumor suppressor genes.
|
28319090 |
2017 |
|
Condition, Preneoplastic
|
0.300 |
Biomarker
|
disease |
CTD_human |
Environmental factors, seven GWAS-identified susceptibility loci, and risk of gastric cancer and its precursors in a Chinese population.
|
28220687 |
2017 |
|
Malignant neoplasm of prostate
|
0.300 |
Biomarker
|
disease |
CTD_human |
We validated ZBTB20, CELF2, PARD3, AKAP13 and WAC, which were identified by our screens in multiple cancer types, as new tumor suppressor genes in prostate cancer.
|
28319090 |
2017 |
|
Stomach Neoplasms
|
0.300 |
Biomarker
|
group |
CTD_human |
A genome-wide association study identifies new susceptibility loci for non-cardia gastric cancer at 3q13.31 and 5p13.1.
|
22037551 |
2011 |