|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Longitudinal data of 62 children probands with genetically proven HNF1B nephropathy was obtained in a multicenter approach.
|
30666461 |
2019 |
|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Further understanding of the molecular mechanisms upstream and downstream of HNF-1β may lead to the development of new therapeutic approaches in cystic kidney disease and other HNF1B-related renal diseases.
|
29961928 |
2019 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Presence of impaired glucose tolerance coupled with kidney disease in the proband and one parent was also highly predictive for HNF1B mutations (OR=11.11, 95%CI:1.13-109.36).
|
31825128 |
2019 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Heterozygous mutation of the transcription factor HNF1B is the most common cause of monogenetic developmental renal disease.
|
30021660 |
2018 |
|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Together these findings reveal a role for ERRγ in directing independent and HNF1β-integrated programs for energy production and use essential for normal renal function and the prevention of kidney disease.
|
29735694 |
2018 |
|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Faecal elastase-1 was below the 2.5 percentile of the control cohort in 18/29 (62%) patients with HNF1B-associated renal disease.
|
30094008 |
2018 |
|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Diabetes was present in 159 patients.At diagnosis, clinical symptoms of diabetes were present in 67 of 144 patients and HNF1B renal disease in 64 of 102.
|
28420700 |
2017 |
|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
A dominantly inherited renal disease (ADPKD or HNF1B-related nephropathy) is frequent in males with infertility and combined renal and genital tract abnormalities (26 %).
|
26946416 |
2017 |
|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
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 |
|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Associated renal or extrarenal symptoms should alert the nephrologist to HNF1β-associated kidney disease.
|
26319241 |
2016 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Here we compared the neurodevelopmental phenotype of 38 patients with HNF1B-associated renal disease due to an intragenic mutation in 18 patients or due to 17q12 deletion in 20 patients to determine whether haploinsufficiency of HNF1B is responsible for the neurodevelopmental phenotype.
|
27234567 |
2016 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Patients with HNF1B gene deletion diagnosed secondary to renal disorders are only very rarely reported to have neuropsychiatric disorders.
|
25324567 |
2015 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Renal cysts are the most frequently detected feature of HNF1B-associated kidney disease; however, other structural abnormalities, including single kidneys and renal hypoplasia, and electrolyte abnormalities can also occur.
|
25536396 |
2015 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Patients were tested for the HNF1B gene if they had chronic kidney disease of unknown origin and renal structure abnormalities (RSA) or a positive family history of nephropathy.
|
24387224 |
2014 |
|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
In our center, more than 30% (278/911) of kidney transplant (KTx) recipients were diagnosed with a causal nephropathy: Prevalence of rare genetic disorders in this group was 4.32% (12/278), including 2,8-dihydroxyadeninuria (2,8-DHA) disease (n = 2), HNF-1B-associated nephropathy (n = 2), UMOD-related nephropathy (n = 5), Fabry disease (n = 1), INF2 focal segmental glomerulosclerosis (n = 1), and Senior-Løken syndrome (n = 1).
|
24961278 |
2014 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We investigated the prevalence of HNF1B deletions in patients with diabetes but no known renal disease.
|
22587559 |
2013 |
|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
HNF1B nephropathy is generally not associated with postnatal down-expression of renal cystic genes in human, a finding consistent with mouse models.
|
22269832 |
2012 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
To help define this we evaluated the clinical presentation, imaging findings, genetic changes, and disease progression in 27 adults from 20 families with HNF1B nephropathy.
|
21775974 |
2011 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.
|
20378641 |
2010 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We report the largest series to date of HNF-1beta mutations and confirm HNF-1beta mutations as an important cause of renal disease.
|
15930087 |
2006 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
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 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The results confirm that the genetic variations in the HNF-1 beta gene would be a very uncommon cause of progressive nephropathy in patients with type 2 diabetes mellitus.
|
12012276 |
2002 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
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 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
To investigate whether mutations in HNF-1 are implicated in the pathogenesis of MODY or late-onset diabetes with and without nephropathy in Danish Caucasians we examined the HNF-1beta (TCF2) and the dimerization cofactor of HNF-1 (DCoH, PCBD) genes for mutations in 11 MODY probands, 28 type 2 diabetic patients with nephropathy, and 46 type 2 diabetic patients with an impaired beta-cell function by combined single-strand conformation polymorphism (SSCP) and heteroduplex analysis.
|
11668623 |
2001 |