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 |
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 |
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 |
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 |
Four of five MODY mutations were identified using Nimblegen (including a large deletion in HNF1B).
|
29417725 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the hepatocyte nuclear factor-1β gene in maturity onset diabetes of the young 5 with multiple renal cysts and pancreas hypogenesis: A case report.
|
28912863 |
2017 |
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 |
Biomarker
|
disease |
BEFREE |
HNF4A-MODY, GCK-MODY, HNF1A-MODY and HNF1B-MODY, together responsible for probably 99% of MODY cases.
|
27323672 |
2016 |
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 |
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 |
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 |
Exocrine pancreatic function in hepatocyte nuclear factor 1β-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas.
|
23600988 |
2013 |
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 |
Heterozygous mutations of TCF2 (transcription factor 2) have been associated with maturity onset diabetes of the young, renal malformations, hyperuricemia, and occasionally internal genital malformations in female.
|
22260488 |
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 |
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 |
hs-CRP was lower in HNF1A-MODY (median [IQR] 0.3 [0.1-0.6] mg/L) than type 2 diabetes (1.40 [0.60-3.45] mg/L; P < 0.001) and type 1 diabetes (1.10 [0.50-1.85] mg/L; P < 0.001), HNF4A-MODY (1.45 [0.46-2.88] mg/L; P < 0.001), GCK-MODY (0.60 [0.30-1.80] mg/L; P < 0.001), and HNF1B-MODY (0.60 [0.10-2.8] mg/L; P = 0.07). hs-CRP discriminated HNF1A-MODY from type 2 diabetes with hs-CRP <0.75 mg/L showing 79% sensitivity and 70% specificity (receiver operating characteristic area under the curve = 0.84).
|
21700917 |
2011 |
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 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 |
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 |
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 gene encoding hepatocyte nuclear factor (HNF)1beta result in maturity-onset diabetes of the young-(MODY)5, by impairing insulin secretory responses and, possibly, by reducing beta-cell mass.
|
16837621 |
2006 |
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Maturity-onset diabetes of the young (MODY) 5 is caused by mutations in the TCF2 gene encoding the transcription factor hepatocyte nuclear factor-1beta.
|
16249435 |
2005 |