|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
After genetic analysis, diabetics (n = 46) with HNF1A, HNF1B, HNF4A, GCK gene mutations (diagnosed as MODY) and diabetics (n = 30) with HNF1B, HNF4A, GCK gene SNPs were excluded.
|
31109344 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in hepatocyte nuclear factor 1β (HNF1β) cause autosomal dominant tubulointerstitial kidney disease (ADTKD-HNF1β), and patients tend to develop renal cysts, maturity-onset diabetes of the young (MODY), and suffer from electrolyte disturbances, including hypomagnesemia, hypokalemia, and hypocalciuria.
|
29561186 |
2018 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Commonly associated defect with the mutations of hepatocyte nuclear factor 1 beta (HNF1B) protein, a transcription factor results in maturity-onset diabetes of the young-5 (MODY-5) leading to loss of function.
|
28215227 |
2017 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
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
|
0.500 |
Biomarker
|
disease |
BEFREE |
HNF1B-maturity-onset diabetes of the young is caused by abnormalities in the HNF1B gene encoding the transcription factor HNF-1beta.
|
19417042 |
2009 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the homeodomain-containing transcription factor hepatocyte nuclear factor (HNF)-1beta are the cause of one form of maturity-onset diabetes of the young (MODY), type 5 (MODY5).
|
10484768 |
1999 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the genes encoding transcriptional regulators HNF1beta (TCF2), HNF1alpha (TCF1), and HNF4alpha cause autosomal dominant diabetes (also known as maturity-onset diabetes of the young).
|
17923767 |
2007 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These clinical characteristics, in spite of the absence of a family history of diabetes, prompted us to make the diagnosis of maturity-onset diabetes of the young 5 (MODY 5).
|
31391355 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
Biomarker
|
disease |
BEFREE |
Heterozygous mutations in the HNF1beta/vHNF1/TCF2 gene cause maturity-onset diabetes of the young (MODY5), associated with severe renal disease and abnormal genital tract.
|
16801329 |
2006 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the hepatocyte nuclear factor 1-alpha (HNF1A), glucokinase, hepatocyte nuclear factor 4-alpha, and hepatocyte nuclear factor 1-beta genes are the mutations most frequently observed in cases of MODY.
|
31098941 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in HNF1β-MODY was identified in a Chinese family complicated with DKD, and the additional effect of pathogenic variants in susceptibility genes was speculated to contribute to DKD severity.
|
28502589 |
2017 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
Biomarker
|
disease |
BEFREE |
Heterozygous mutations in the transcription factors hepatocyte nuclear factor (HNF)-1 alpha, HNF-1 beta, and HNF-4 alpha are associated with maturity-onset diabetes of the young (MODY) and are believed to cause this form of diabetes by impairing pancreatic beta-cell function.
|
9839108 |
1998 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Multiplex ligation-dependent probe amplification analysis showed an HNF1B gene deletion in three of the remaining 124 probands, all of whom met the criteria for maturity-onset diabetes of the young.
|
22587559 |
2013 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hepatocyte nuclear factor 1-β (HNF1B) defects cause renal cysts and diabetes syndrome (RCAD), or HNF1B-maturity-onset diabetes of the young.
|
25741167 |
2015 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Early reports described an association between HNF1B mutations and maturity-onset diabetes of the young.
|
26319241 |
2016 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
HNF-1 beta gene mutations are associated with a unique disorder characterized by maturity-onset diabetes of the young (MODY) and early-onset and progressive nondiabetic renal dysfunction, which may lead to chronic renal failure.
|
10720943 |
2000 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations.
|
15001636 |
2004 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the hepatocyte nuclear factor (HNF)-1beta gene (TCF2) are responsible for a syndrome characterized by maturity-onset diabetes of the young, a nondiabetic renal disease, genital malformations, and liver dysfunction.
|
12148114 |
2002 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies revealed a heterozygous mutation (S148L) of the HNF1B gene, compatible with an HNF1B-MODY phenotype (MODY5).
|
21767339 |
2012 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in HNF1B are responsible for a dominantly inherited disease with renal and nonrenal consequences, including maturity-onset diabetes of the young (MODY) type 5.
|
21775974 |
2011 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
Biomarker
|
disease |
BEFREE |
To date, mutations in genes of five proteins have been shown to cause MODY: glucokinase (MODY2), hepatic nuclear factor-1 alpha (HNF-1 alpha) (MODY3), hepatic nuclear factor-4 alpha (HNF-4 alpha) (MODY1), insulin promoter factor 1 (IPF-1) (MODY4) and hepatic nuclear factor-1 beta (HNF-1 beta) (MODY5), but other MODY genes still await elucidation.
|
10417964 |
1999 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HNF1B gene have been shown to cause renal malformations, hypomagnesemia, and MODY.
|
24204001 |
2014 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
HNF1B mutations most frequently cause developmental renal disease (particularly renal cysts) but may also cause MODY in isolation or may cause the renal cysts and diabetes syndrome (RCAD syndrome).
|
21521318 |
2011 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in the homeobox gene vHnf1 are associated with human diseases MODY5 (maturity-onset diabetes of the young, type V) and familial GCKD (glomerulocystic kidney disease).
|
11731484 |
2001 |