|
Maturity onset diabetes mellitus in young
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
MODY is genetically heterogeneous with five different genes identified to date: hepatocyte nuclear factor-4 alpha (HNF-4 alpha) [MODY1]; glucokinase [MODY2]; hepatocyte nuclear factor-1 alpha (HNF-1 alpha) [MODY3]; insulin promoter factor-1 (IPF-1) [MODY4]; and hepatocyte nuclear factor-1 beta (HNF-1 beta) [MODY5].
|
11058894 |
2000 |
|
Maturity onset diabetes mellitus in young
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NEUROD1, PDX1 (IPF1), CEL and INS are rare causes of MODY.
|
21521318 |
2011 |
|
Maturity onset diabetes mellitus in young
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
IPF1 mutations leading to synthesis of a mutant protein may contribute to the development of familial early-onset diabetes/maturity-onset diabetes of the young in Indo-Trinidadians.
|
14764823 |
2004 |
|
Maturity onset diabetes mellitus in young
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Homozygous loss-of-function mutations in the gene coding for the homeobox transcription factor PDX1 leads to pancreatic agenesis, whereas certain heterozygous point mutations are associated with Maturity-Onset Diabetes of the Young 4 (MODY4) and Type 2 Diabetes Mellitus (T2DM).
|
27879214 |
2016 |
|
Maturity onset diabetes mellitus in young
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We conclude that variants in IPF-1 are not a common cause of MODY or late-onset type 2 diabetes in the Caucasian population, and that in terms of insulin transcription both the N76 and the T140 mutations are likely to represent functionally normal IPF-1 variants with no direct role in the pathogenesis of MODY or late-onset type 2 diabetes mellitus.
|
10720084 |
2000 |
|
Maturity onset diabetes mellitus in young
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We propose that IPF-1 mutations can cause MODY or apparently monogenic late-onset diabetes and that they represent a significant risk factor for type 2 diabetes in humans.
|
10545531 |
1999 |
|
Maturity onset diabetes mellitus in young
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
MODY is both clinically and genetically heterogeneous, with six different genes identified to date; glucokinase (GCK), hepatocyte nuclear factor-1 alpha (HNF1A, or TCF1), hepatocyte nuclear factor-4 alpha (HNF4A), insulin promoter factor-1 (IPF1 or PDX1), hepatocyte nuclear factor-1 beta (HNF1B or TCF2), and neurogenic differentiation 1 (NEUROD1).
|
16917892 |
2006 |
|
Maturity onset diabetes mellitus in young
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We demonstrate the significance of this alternative promoter in a large MODY family where a mutated IPF-1 binding site in the P2 promoter of the HNF-4alpha gene co-segregates with diabetes (LOD score 3.25).
|
11590126 |
2001 |
|
Maturity onset diabetes mellitus in young
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, functional variants of the MODY 4 gene (insulin promoter factor-1) have been associated with both MODY and the common form of type 2 diabetes.
|
11994901 |
2002 |
|
Maturity onset diabetes mellitus in young
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Recent studies showed that dominant negative mutations in the insulin promoter factor-1 (IPF-1), a pancreatic beta-cell specific transcription factor, cause maturity-onset diabetes of the young (MODY), a subtype of T2DM with early onset and monogenic autosomal inheritance.
|
15754742 |
2004 |
|
Maturity onset diabetes mellitus in young
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in pdx-1(ipf-1) are associated both with maturity-onset diabetes of the young and type 2 diabetes.
|
15001545 |
2004 |
|
Maturity onset diabetes mellitus in young
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Maturity-Onset Diabetes of the Young (MODY) type 4 or PDX1 -MODY is a rare form of monogenic diabetes caused by heterozygous variants in PDX1 .
|
28436541 |
2018 |
|
Maturity onset diabetes mellitus in young
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We conclude that mutations in the IPF-1 gene may predispose to type 2 diabetes and are a rare cause of MODY and pancreatic agenesis, with the phenotype depending upon the severity of the mutation.
|
10545530 |
1999 |
|
Maturity onset diabetes mellitus in young
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, a novel mutation site of MODY type 4 in the PDX1 gene was identified in a family with MODY, which may provide a basis for its clinical treatment.
|
31322178 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Maturity onset diabetes mellitus in young
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Homozygous loss-of-function mutations in the gene coding for the homeobox transcription factor PDX1 leads to pancreatic agenesis, whereas certain heterozygous point mutations are associated with Maturity-Onset Diabetes of the Young 4 (MODY4) and Type 2 Diabetes Mellitus (T2DM).
|
27879211 |
2016 |
|
Maturity onset diabetes mellitus in young
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Heterozygosity for PDX-1 mutations was found in some individuals with a newly characterized subtype of maturity-onset diabetes of the young (MODY4) and in others with type 2 DM.
|
12503852 |
2003 |
|
Maturity onset diabetes mellitus in young
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Homozygous loss-of-function mutations in the gene coding for the homeobox transcription factor (TF) PDX1 leads to pancreatic agenesis, whereas heterozygous mutations can cause Maturity-Onset Diabetes of the Young 4 (MODY4).
|
29396371 |
2018 |
|
Maturity onset diabetes mellitus in young
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The aim of the study was to search for mutations in the NEUROD1 and IPF-1 genes in patients with clinical characteristics of maturity-onset diabetes of the young (MODY) but with no mutations in the HNF-4A (MODY1), GCK (MODY2) and TCF1 (MODY3) genes.
|
18331410 |
2008 |
|
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
|
0.830 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
|
0.830 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, heterozygous mutations of PDX-1 have been linked to a type of autosomal dominant form of diabetes mellitus known as maturity onset diabetes of the young type 4.
|
11834421 |
2002 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We propose that IPF-1 mutations can cause MODY or apparently monogenic late-onset diabetes and that they represent a significant risk factor for type 2 diabetes in humans.
|
10545531 |
1999 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in pdx-1(ipf-1) are associated both with maturity-onset diabetes of the young and type 2 diabetes.
|
15001545 |
2004 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We screened 264 unrelated subjects with type 2 diabetes diagnosed before 40 yr of age and a family history of diabetes for mutations in the minimal promoter and coding region of the IPF-1 gene (IPF1).
|
14764823 |
2004 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein.
|
9649577 |
1998 |