Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
GWASCAT |
Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.
|
30718926 |
2019 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PAX4 R192H is associated with younger onset of Type 2 diabetes in East Asians in Singapore.
|
30528630 |
2019 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
GWASCAT |
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
|
29632382 |
2018 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Objective The rs10229583 polymorphism near paired box gene 4 ( PAX4) is associated with insulin resistance and type 2 diabetes.
|
28730907 |
2018 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
Biomarker
|
disease |
BEFREE |
The clinical course of KPD is like that of patients with type 2 diabetes rather than that of type 1 diabetes.
|
30280274 |
2018 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the discovery stage, an Asian-specific coding variant rs2233580 (p.Arg192His) in PAX4, and two variants at the known loci, CDKN2B-AS1 and KCNQ1, were significantly associated with type 2 diabetes with exome-wide significance (p <sub>discovery</sub> < 6.45 × 10<sup>-7</sup>).
|
27744525 |
2017 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PAX4 rs712701 was not associated with T2D but it was in linkage disequilibrium with rs2233580.
|
27334367 |
2016 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
Biomarker
|
disease |
BEFREE |
Overall, we did not find any evidence of susceptibility to ketosis associated with DRB1 and DQB1 genotypes (all P>0.05) in A(-) KPD compared to T2D.
|
25511714 |
2015 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Collectively, these data suggest that the T2D-risk allele of rs11603334 could abrogate binding of a complex containing PAX6 and PAX4 and thus lead to increased promoter activity and ARAP1 expression in human pancreatic islets.
|
24439111 |
2014 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Association of PAX4 genetic variants with oral antidiabetic drugs efficacy in Chinese type 2 diabetes patients.
|
24752311 |
2014 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, MAFA nuclear expression in both alpha and beta cells, and the percentage of alpha cells expressing PAX4 were found altered in a substantial proportion of patients with type 2 diabetes.
|
24013263 |
2013 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results suggested that PAX4 R192H polymorphism generated a protein with defect in transcriptional repressor activities on its target genes, which may lead to β-cell dysfunction associated with MODY and early onset-age of T2D as reported in our previous study.
|
22521316 |
2013 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study identifies rs10229583 near PAX4 as a novel locus for type 2 diabetes in Chinese and other populations and provides new insights into the pathogenesis of type 2 diabetes.
|
23532257 |
2013 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
NeuroD1 A45T and PAX4 R121W polymorphisms are associated with plasma glucose level of repaglinide monotherapy in Chinese patients with type 2 diabetes.
|
22296034 |
2012 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
Biomarker
|
disease |
BEFREE |
In addition to these three major classes, we also review the available evidence on novel genes (CDK5 regulatory subunit associated protein 1-like 1 [CDKAL1], insulin-like growth factor 2 mRNA binding protein 2 [IGF2BP2], potassium voltage-gated channel, KQT-like subfamily, member 1 [KCNQ1], paired box 4 [PAX4] and neuronal differentiation 1 [NEUROD1] transcription factors, ataxia telangiectasia mutated [ATM], and serine racemase [SRR]) that have recently been proposed as possible modulators of therapeutic response in subjects with T2DM.
|
23018631 |
2012 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We screened PAX4 coding sequences in 46 MODY probands without mutation in known MODY genes and in 74 nondiabetic controls using PCR-single-stranded conformational polymorphism analysis followed by direct sequencing.
|
17426099 |
2007 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To clarify the role of PAX4 Arg121Trp mutation on the development of type 2 diabetes mellitus, we try to determine the clinical phenotype in diabetic subjects with this mutation.
|
16423628 |
2006 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, a missense mutation (Arg121Trp) of PAX4 has been implicated in early and insulin deficient type 2 diabetes in Japanese subjects.
|
15509590 |
2004 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
ModifyingMutation
|
disease |
RGD |
The R121W mutation in PAX4 is a predisposing factor for the development of type 2 diabetes in Okinawans.
|
12604352 |
2003 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The R121W mutation in PAX4 is a predisposing factor for the development of type 2 diabetes in Okinawans.
|
12604352 |
2003 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
This work provides significant implications for the Pax4 gene as one of the predisposing genes for type 2 diabetes in the Japanese.
|
11723072 |
2001 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
Biomarker
|
disease |
BEFREE |
This work provides significant implications for the Pax4 gene as one of the predisposing genes for type 2 diabetes in the Japanese.
|
11723072 |
2001 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
Biomarker
|
disease |
BEFREE |
There was no evidence of linkage with the markers for NEUROD1 and PAX4 either with MODY or late-onset Type II diabetes.
|
10230653 |
1999 |
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|