|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To study the relationship between the GLP-1 receptor gene and NIDDM, linkage of a microsatellite polymorphism flanking the GLP-1 receptor gene with diabetes was investigated in three Caucasian families with MODY and in the nuclear families of 12 NIDDM probands.
|
7958545 |
1994 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
The search for a third MODY gene will provide a better understanding of diabetes in childhood.
|
7951673 |
1994 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene.
|
8632993 |
1996 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Specific genetic defects have been identified for rate monogenic forms of NIDDM: maturity-onset diabetes of the young, or MODY (which is due to glucokinase mutations in about 40% of families), syndromes of extreme insulin resistance (which often involve the insulin receptor), and diabetes-deafness syndromes (with defects in mitochondrial genes).
|
8712800 |
1996 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In contrast to the glucokinase and HNF-1alpha genes, mutations in the HNF-4alpha gene are a relatively uncommon cause of MODY, and our understanding of the MODY1 form of diabetes is based on studies of only a single family, the R-W pedigree.
|
9294105 |
1997 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have shown that mutations in the two functionally related transcription factors, hepatocyte nuclear factor 4 alpha (HNF-4alpha) and hepatocyte nuclear factor 1 alpha (HNF-1alpha) are associated with the MODY1 and MODY3 forms of diabetes respectively, whereas mutations in the enzyme glucokinase are the cause of the MODY2 form.
|
9097962 |
1997 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
Of the subjects with HNF-1 alpha and HNF-4 alpha diabetes, 50% were treated with insulin, as were all three subjects with HNF-1 beta diabetes.
|
9839108 |
1998 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patients with HNF4alpha and IPF1 mutations show a similar clinical picture to HNF1alpha although diabetes may be diagnosed later.
|
9472859 |
1998 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have found mutations in the hepatocyte nuclear factor-4 alpha gene (HNF-4alpha) in families with maturity-onset diabetes of the young (MODY), an autosomal dominant form of diabetes characterized by early age at onset and a defect in glucose-stimulated insulin secretion.
|
9449683 |
1998 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
Among 115 Scandinavian families, mutations in the HNF-1alpha gene represented the most common cause of familial early-onset ( </= 40 years) diabetes: MODY3 (5.2 %) more than MODY2 (3.5 %) more than MIDD (2.6 %) more than MODY1 (1.7 %).
|
10447526 |
1999 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
Subjects from MODY gene-negative pedigrees were diagnosed with diabetes at an older age (36 +/- 17 vs. 21 +/- 10 years, P = 0.0001) and were more frequently obese (52 vs. 18%, P = 0.0001) than MODY3 individuals.
|
10333942 |
1999 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To examine the prevalence of identified MODY-related genes in Chinese subjects with early onset Type 2 diabetes mellitus and a positive family history of diabetes and to look for possible associations between the gene mutations and the development of diabetes.
|
10588527 |
1999 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
ADM is a subtype of MODY that occurs in approximately 10% of African-Americans with youth onset diabetes.
|
10609119 |
1999 |
|
Diabetes
|
0.100 |
Biomarker
|
disease |
BEFREE |
Concerning the Gly15Gly polymorphism, the TT genotype was found in 275 subjects (79.9%), the TG genotype in 67 subjects (19.5%) and the GG genotype in 2 subjects (0.6%): one with maturity onset diabetes of young age (MODY-diabetes) and one with Lipoatrophic Diabetes Syndrome (LPDS).
|
11029602 |
2000 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the HNF4 alpha gene revealed two possible mutations in 182 diabetic patients which suggests that the HNF4 alpha gene does not make a large contribution to diabetes susceptibility in the general population of Caucasian diabetic nephropathic patients.
|
10768098 |
2000 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
All of the five known MODY genes, HNF-4alpha, glucokinase, HNF-1alpha, HNF-1beta, and IPF1, were previously excluded as being the cause of diabetes in these families.
|
10868949 |
2000 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
No diabetes-associated mutations in the coding region of the hepatocyte nuclear factor-4gamma gene (HNF4G) in Japanese patients with MODY.
|
10990086 |
2000 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our previous screening of MODY subjects showed that mutations in the HNF-3beta gene are not a common cause of this form of diabetes in the Japanese.
|
11043867 |
2000 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We screened 68 Japanese subjects with MODY/early-onset diabetes for mutations in this gene.
|
10672453 |
2000 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Diabetes is caused either by mutations in the glucokinase gene (glucokinase MODY) or by mutations in transcription factors (transcription factor MODY).
|
11554773 |
2001 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Given the key role of the transcription factor HNF1alpha in pancreatic beta-cell function, it can be inferred that impairment of HNF4alpha function by these mutations affects metabolic pathways in pancreatic beta-cells and contributes to development of diabetes.
|
12110948 |
2002 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The -79 C/T substitution was present in a MODY family but did not perfectly cosegregate with diabetes.
|
12242469 |
2002 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We studied mutations in MODY1-4 genes, the presence of GAD antibodies, and HLA DQB1 risk genotypes in 66 Swedish women with GDM and a family history of diabetes.
|
11772903 |
2002 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In summary, we have identified a MODY locus on 8p23 that accounts for diabetes in a substantial proportion of MODY cases unlinked to known MODY genes.
|
15111509 |
2004 |
|
Diabetes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our results and the independent observation of association of SNPs near the P2 promoter with diabetes in a separate study population of Ashkenazi Jewish origin suggests that variant(s) located near or within HNF4A increases susceptibility to type 2 diabetes.
|
15047633 |
2004 |