|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Islet ATAC-seq peaks overlap with 13 SNPs associated with T2D (e.g. rs7903146, rs2237897, rs757209, rs11708067 and rs878521 near TCF7L2, KCNQ1, HNF1B, ADCY5 and GCK, respectively) and with additional 67 SNPs in LD with known T2D SNPs (e.g.
|
31123324 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.800 |
GeneticVariation
|
disease |
GWASCAT |
Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.
|
30718926 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mean C-peptide at diagnosis was higher for HNF4A-MODY than for T1D (1.8 vs 0.9 ng/mL; P < 0.01); 36.4% of patients with HNF4A-MODY and 65.7% of patients with HNF1B-MODY were treated with insulin, whereas 20.5% and 8.6% received oral antidiabetics only (P < 0.05 and P < 0.01 vs T2D).
|
30535056 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.800 |
GeneticVariation
|
disease |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Renal cysts and diabetes syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Hepatocyte nuclear factor 1β (HNF1B), located on chromosome 17q12, causes renal cysts and diabetes syndrome (RCAD).
|
31131422 |
2019 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a sporadic case of maturity-onset diabetes of the young type 5 (MODY5) with a whole-gene deletion of the hepatocyte nuclear factor-1beta (HNF1B) gene.
|
31391355 |
2019 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Renal Cysts and Diabetes Syndrome (RCAD) is an autosomal dominant disorder caused by mutations in the HNF1B gene encoding for the transcriptional factor hepatocyte nuclear factor-1B.
|
30778115 |
2019 |
|
Renal cysts and diabetes syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The importance of combined NGS and MLPA genetic tests for differential diagnosis of maturity onset diabetes of the young.
|
30259503 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in hepatocyte nuclear factor-1β gene result in a multisystemic syndrome where a monogenic form of diabetes (maturity-onset diabetes of young type 5; MODY 5) and renal anomalies, usually bilateral multiple cysts are the most characteristic findings.
|
29574432 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here, we outline the effects of genetic and environmental factors on the known phenotypes of MODY, focusing mainly on the examples of MODY 5 and 6, which have low penetrance, as suggestive models for elucidating the multifactorial origin of type 2 diabetes mellitus.
|
29406598 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.800 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.
|
30054458 |
2018 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance.
|
29927023 |
2018 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A complete deletion of HNF1B can be found in about 50% of patients with MODY5.
|
30032214 |
2018 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Primary male factor infertility due to asthenospermia in maturity-onset diabetes of the young type 5 (MODY 5): uncommon presentation of an uncommon disease.
|
29574432 |
2018 |
|
Renal cysts and diabetes syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance.
|
29927023 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.800 |
GeneticVariation
|
disease |
GWASCAT |
Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.
|
28869590 |
2017 |
|
Renal cysts and diabetes syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
|
29207974 |
2017 |
|
Renal cysts and diabetes syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic causes of hypomagnesemia, a clinical overview.
|
27234911 |
2017 |
|
Renal cysts and diabetes syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
|
27657687 |
2017 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.800 |
Biomarker
|
disease |
BEFREE |
After adjusting for multiple covariates, SNPs in or near CDKAL1, CDKN2BAS, KCNQ1, TCF7L2, CDC123/CAMK1D, HHEX, and TCF2 were associated with the risk for lean T2D, and SNPs in or near KCNQ1 and FTO were associated with the risk for obese T2D.
|
27281091 |
2016 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.800 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes.
|
26818947 |
2016 |
|
Renal cysts and diabetes syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
HNF1B was first identified as a disease gene for diabetes (MODY5) in 1997, and its involvement in renal disease was subsequently noted through clinical observations in pedigrees affected by MODY5.
|
26160100 |
2016 |
|
Renal cysts and diabetes syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.
|
27234567 |
2016 |
|
Renal cysts and diabetes syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Early Developmental Perturbations in a Human Stem Cell Model of MODY5/HNF1B Pancreatic Hypoplasia.
|
26876668 |
2016 |
|
Renal cysts and diabetes syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors.
|
27059371 |
2016 |