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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 7
1991 9
1992 9
1993 22
1994 13
1995 9
1996 16
1997 36
1998 40
1999 42
2000 55
2001 58
2002 64
2003 60
2004 29
2005 11
2006 11
2007 11
2008 10
2009 14
2010 17
2011 25
2012 20
2013 21
2014 24
2015 21
2016 29
2017 26
2018 28
2019 9
2020 0
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700 results
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Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer
Klein AP, et al. Nat Commun 2018. PMID 29422604 Free PMC article.
Replication of 10 promising signals in up to 2737 patients and 4752 controls from the PANcreatic Disease ReseArch (PANDoRA) consortium yields new genome-wide significant loci: rs13303010 at 1p36.33 (NOC2L, P = 8.36 × 10(-14)), rs2941471 at 8q21.11 (HNF4G, P = 6.60 × 10(-10)), rs4795218 at 17q12 (HNF1B, P = 1.32 × 10(-8)), and rs1517037 at 18q21.32 (GRP, P = 3.28 × 10(-8)). rs78417682 is not statistically significantly associated with pancreatic cancer in PANDoRA. ...
Replication of 10 promising signals in up to 2737 patients and 4752 controls from the PANcreatic Disease ReseArch (PANDoRA) consortium yield …
HNF1B-associated clinical phenotypes: the kidney and beyond.
Bockenhauer D and Jaureguiberry G. Pediatr Nephrol 2016 - Review. PMID 26160100
Mutations in HNF1B, the gene encoding hepatocyte nuclear factor 1β are the most commonly identified genetic cause of renal malformations. ...Some of the associated phenotypes, especially the neurologic ones, appear to occur only in the context of this microdeletion and thus may not be directly linked to HNF1B. ...
Mutations in HNF1B, the gene encoding hepatocyte nuclear factor 1β are the most commonly identified genetic cause of renal malformati …
Genome-wide analysis of PDX1 target genes in human pancreatic progenitors
Wang X, et al. Mol Metab 2018. PMID 29396371 Free PMC article.
The PDX1 target regions include important pancreatic TFs, such as PDX1 itself, RFX6, HNF1B, and MEIS1, which were activated during the differentiation process as revealed by the active chromatin mark H3K27ac and mRNA expression profiling, suggesting that auto-regulatory feedback regulation maintains PDX1 expression and initiates a pancreatic TF program. ...Two of these SNPs fall into PDX1 occupied sites that are located in the intronic regions of TCF7L2 and HNF1B. Both of these genes are key transcriptional regulators of endocrine induction and mutations in cis-regulatory regions predispose to diabetes. ...
The PDX1 target regions include important pancreatic TFs, such as PDX1 itself, RFX6, HNF1B, and MEIS1, which were activated during th …
HNF1B Loss Exacerbates the Development of Chromophobe Renal Cell Carcinomas.
Sun M, et al. Cancer Res 2017. PMID 28807937 Free PMC article.
We also observed a strong correlation between reduced HNF1B expression and aneuploidy in ChRCC patients. In murine embryonic fibroblasts or ACHN cells, HNF1B deficiency reduced expression of the spindle checkpoint proteins MAD2L1 and BUB1B, and the cell-cycle checkpoint proteins RB1 and p27. ...In cells, combining HNF1B loss and TP53 mutation increased cell proliferation and aneuploidy. Our results show how HNF1B loss leads to abnormal mitotic protein regulation and induction of aneuploidy. ...
We also observed a strong correlation between reduced HNF1B expression and aneuploidy in ChRCC patients. In murine embryonic fibrobla …
Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (HNF1B) Molecular Defects.
Dubois-Laforgue D, et al. Diabetes Care 2017 - Clinical Trial. PMID 28420700
The HNF1B syndrome is related to HNF1B mutations or to a 17q12 deletion spanning 15 genes, including HNF1B. Here, we described HNF1B-related diabetes and associated phenotypes and assessed genotype/phenotype correlations at diagnosis and in the long-term. ...CONCLUSIONS: In patients with HNF1B syndrome, diabetes complications, cardiovascular risk factors, CKD3-4, and ESRD are highly prevalent. ...
The HNF1B syndrome is related to HNF1B mutations or to a 17q12 deletion spanning 15 genes, including HNF1B. Here, we de …
A Simple Bioreactor-Based Method to Generate Kidney Organoids from Pluripotent Stem Cells
Przepiorski A, et al. Stem Cell Reports 2018. PMID 30033089 Free PMC article.
Current protocols are technically complex, suffer from poor reproducibility, and have high reagent costs that restrict scalability. ...We show that deletion of HNF1B, a transcription factor linked to congenital kidney defects, interferes with tubulogenesis, validating our experimental system for studying renal developmental biology. ...
Current protocols are technically complex, suffer from poor reproducibility, and have high reagent costs that restrict scalability. . …
Early Developmental Perturbations in a Human Stem Cell Model of MODY5/HNF1B Pancreatic Hypoplasia.
Teo AK, et al. Stem Cell Reports 2016. PMID 26876668 Free PMC article.
Overexpression studies demonstrate that a compensatory increase in PDX1 gene expression is due to mutant HNF1B(S148L/+) but not wild-type HNF1B or HNF1A. Furthermore, HNF1B does not appear to directly regulate PAX6 gene expression necessary for glucose tolerance. Our results demonstrate compensatory mechanisms in the pancreatic transcription factor network due to mutant HNF1B(S148L/+) protein. ...
Overexpression studies demonstrate that a compensatory increase in PDX1 gene expression is due to mutant HNF1B(S148L/+) but not wild- …
Genome-wide methylomic analysis in individuals with HNF1B intragenic mutation and 17q12 microdeletion.
Clissold RL, et al. Clin Epigenetics 2018. PMID 30021660 Free PMC article.
Heterozygous mutation of the transcription factor HNF1B is the most common cause of monogenetic developmental renal disease. Disease-associated mutations fall into two categories: HNF1B intragenic mutations and a 1.3 Mb deletion at chromosome 17q12. ...
Heterozygous mutation of the transcription factor HNF1B is the most common cause of monogenetic developmental renal disease. Disease- …
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