Affinage

HNF1B

Hepatocyte nuclear factor 1-beta · UniProt P35680

Length
557 aa
Mass
61.3 kDa
Annotated
2026-06-10
100 papers in source corpus 35 papers cited in narrative 35 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

HNF1B (vHNF1/TCF2/LFB3) is a homeodomain transcription factor that orchestrates epithelial morphogenesis, cell polarity, and metabolic gene programs across endoderm- and mesoderm-derived organs during development and adult homeostasis (PMID:10518495, PMID:20040500). It binds DNA as a dimer and forms heterodimers with HNF1α, acting as a sequence-specific transcriptional activator (PMID:1673926, PMID:1673925); full transactivation depends on its C-terminal QSP-rich domain and on recruitment of the histone acetyltransferases CBP and PCAF, and MODY5-causing mutations abolish activity either by destroying DNA binding or by uncoupling the factor from these coactivators (PMID:15509593). As a developmental master regulator HNF1B sits atop sequential transcriptional cascades — it directly activates Hnf6 (driving an Hnf6→Pdx1 axis), occupies Ngn3 regulatory sequences, and is required for visceral endoderm differentiation, hepatic specification, and pancreatic progenitor formation (PMID:10518495, PMID:16380477, PMID:18635606, PMID:25715395); in the hindbrain it integrates retinoic acid, FGF, and Bmp inputs to activate Kreisler/MafB (val) and specify rhombomeres 5/6 (PMID:16274963, PMID:15342476, PMID:17217944, PMID:17669392). In the kidney and genitourinary tract HNF1B controls ureteric bud branching, apicobasal polarity, and nephrogenesis by directly regulating Wnt9b, Gfra1, and Etv5 in the Ret pathway, and its Müllerian-duct function underlies a MRKH-like phenotype (PMID:20040500, PMID:29158444, PMID:36282544). It directly governs renal transport genes including FXYD2, the calcium-sensing receptor (CaSR), and PKHD1, linking its loss to hypomagnesemia, disordered calcium handling, and cystic kidney disease (PMID:16221171, PMID:19389850, PMID:29561186). HNF1B loss is also pathogenic through derepression of normally silenced targets: it represses SOCS3 (whose derepression blocks HGF-driven ERK/STAT3 tubulogenesis) and the EMT regulators Twist2 and SLUG/SNAI2, so that its absence triggers a Twist2–TGFβ fibrotic cascade acting cell-non-autonomously on the interstitium (PMID:18077349, PMID:30097458, PMID:31636385). Mutations in HNF1B cause MODY5 with associated cystic kidney disease (PMID:15509593, PMID:16221171).

Mechanistic history

Synthesis pass · year-by-year structured walk · 32 steps
  1. 1991 High

    Established the basic molecular identity of HNF1B as a dimeric DNA-binding transcriptional activator that heterodimerizes with HNF1α, defining how it engages target promoters.

    Evidence In vitro and nuclear-extract heterodimerization assays plus reporter transactivation of the albumin promoter, independently replicated by two labs

    PMID:1673925 PMID:1673926

    Open questions at the time
    • Did not identify in vivo target gene repertoire
    • Coactivator requirements unresolved
    • Tissue-specific functions not addressed
  2. 1996 High

    Defined how HNF1B's own expression is controlled, showing its promoter is driven by COUP-TF orphan receptors via octamer-binding proteins rather than the HNF4 input that governs HNF1α.

    Evidence Promoter deletion, footprinting, reporter and mammalian two-hybrid assays

    PMID:8622679

    Open questions at the time
    • In vivo relevance of COUP-TF regulation not tested
    • Does not address downstream HNF1B targets
  3. 1998 High

    Mapped a discrete interaction surface (aa 400–450) through which HNF1B cooperates with CREB/ATF1 for cAMP-responsive transcription, distinguishing inducible from basal transactivation.

    Evidence Domain-deletion mutagenesis, mammalian two-hybrid, and reporter assays in kidney cells

    PMID:9671480

    Open questions at the time
    • Physiological cAMP targets of this interaction not identified
    • Single cell-line context
  4. 1999 High

    Showed HNF1B is cell-autonomously essential for visceral endoderm differentiation and sits upstream of HNF4, establishing it as an early endodermal regulator before organogenesis.

    Evidence Knockout mouse with ES-cell differentiation and tetraploid complementation, marker in situ hybridization

    PMID:10518495

    Open questions at the time
    • Early lethality obscured later organ-specific roles
    • Direct vs indirect control of HNF4 not resolved
  5. 2001 High

    Demonstrated multi-organ patterning roles by identifying direct/epistatic targets (pdx1, shh, pax2, wt1, valentino) across kidney, pancreas, liver, and hindbrain.

    Evidence Zebrafish insertional mutant plus overexpression with target in situ hybridization and epistasis

    PMID:11731484

    Open questions at the time
    • Direct binding to most targets not shown
    • Mammalian conservation tested only later
  6. 2002 High

    Defined HNF1B as essential for intrahepatic bile duct morphogenesis and hepatocyte metabolic gene regulation through tissue-specific deletion.

    Evidence Hepatocyte/bile-duct conditional Cre/loxP knockout with histology and expression profiling

    PMID:11934849

    Open questions at the time
    • Direct target promoters for metabolic genes not mapped
    • Mechanism of duct morphogenesis defect not resolved
  7. 2003 High

    Resolved hindbrain segmentation control, showing HNF1B directly binds the Kreisler/MafB S5 element and acts in FGF-dependent synergy to specify r5/r6 while independently repressing r4 identity.

    Evidence Transgenic enhancer reporters with binding-site mutagenesis (mouse) and zebrafish genetic/FGF-inhibition epistasis

    PMID:12835397 PMID:16274963

    Open questions at the time
    • Identity of cooperating r5/r6 factors incomplete
    • Mechanism of hoxb1a repression not defined
  8. 2003 Medium

    Placed HNF1B within the pancreatic endocrine hierarchy as a Hnf6-dependent factor in ductal precursors that give rise to Ngn3+ endocrine cells.

    Evidence Immunohistochemistry and lineage/epistasis analysis in Hnf6-deficient mice

    PMID:14570708

    Open questions at the time
    • Direct Ngn3 regulation shown only later
    • Single-lab epistasis
  9. 2004 High

    Defined the molecular basis of MODY5 mutations, distinguishing DNA-binding loss from coactivator (CBP/PCAF) uncoupling and identifying the QSP-rich domain as required for transactivation.

    Evidence Mutagenesis, reporter assays, Co-IP with CBP/PCAF, nuclear localization studies, TSA treatment

    PMID:15509593

    Open questions at the time
    • Genotype-phenotype correlation for specific tissues not addressed
    • Coactivator recruitment to endogenous loci not shown
  10. 2004 High

    Established HNF1B as a signaling integrator that converts RA and FGF/MAPK inputs into hindbrain positional identity.

    Evidence Zebrafish genetics with RA treatment and FGF/MAPK manipulation, in situ hybridization, epistasis

    PMID:15342476

    Open questions at the time
    • Direct vs indirect transcriptional integration not separated
    • Mammalian relevance not tested here
  11. 2005 High

    Connected HNF1B to cystic kidney disease mechanistically by showing it directly regulates the Pkhd1/ARPKD promoter, whose downregulation produces renal cysts.

    Evidence Transgenic mutant and conditional KO mouse kidneys with ChIP/promoter binding for Pkhd1

    PMID:16221171

    Open questions at the time
    • Other cystogenic targets not enumerated here
    • Quantitative contribution of Pkhd1 vs other targets unclear
  12. 2005 Medium

    Expanded the direct target catalog (DPP4, ACE2, SPP1) and linked HNF1B targets to ovarian clear cell carcinoma.

    Evidence Conditional inducible expression system, microarray, and promoter binding-site analysis in HEK293 cells

    PMID:16297991

    Open questions at the time
    • Cell-line context may not reflect kidney epithelia
    • Direct binding confirmed only by motif analysis for some targets
  13. 2005 High

    Showed HNF1B is required for early pancreas development and controls regional gut patterning by acting upstream of Ptf1a and other patterning genes.

    Evidence Tetraploid-aggregation rescue of null embryos with in situ hybridization and immunohistochemistry

    PMID:15668393

    Open questions at the time
    • Direct vs indirect Ptf1a control not resolved here
    • Mechanism of agenesis (proliferation vs specification) addressed later
  14. 2006 High

    Defined a direct vHNF1→HNF6→Pdx1 transcriptional cascade controlling pancreatic precursor generation, anchoring HNF1B atop the endocrine differentiation hierarchy.

    Evidence In vitro protein-DNA binding to an Hnf6 intronic enhancer plus electroporation reporters, transgenesis, and Hnf6/Tcf2 KO mice

    PMID:16380477

    Open questions at the time
    • Cofactors at the Hnf6 enhancer not identified
    • Pdx1 regulation is downstream/indirect
  15. 2006 High

    Positioned HNF1B downstream of RA, Bmp, and Fgf signals in endoderm to drive endocrine β-cell development, refining its role as a signaling node.

    Evidence Zebrafish morpholino knockdown, pathway inhibition, RA receptor inhibition, and mRNA overexpression rescue

    PMID:17217944

    Open questions at the time
    • Direct transcriptional targets of the integrated signals not mapped
    • Mammalian validation not in this study
  16. 2007 High

    Revealed a key derepression mechanism in disease: HNF1B directly represses SOCS3, and its loss derepresses SOCS3 to block HGF-driven ERK/STAT3 tubulogenesis.

    Evidence Genome-wide ChIP-chip, microarray, KO mouse and dominant-negative cells with SOCS3-knockdown rescue and ERK/STAT3 phosphorylation readouts

    PMID:18077349

    Open questions at the time
    • In vivo contribution of SOCS3 derepression to human disease not quantified
    • Other repressed targets not detailed here
  17. 2007 High

    Mapped the cis-regulatory logic of HNF1B's neural expression, identifying a RARE and T-MARE-containing enhancer and a MAFB feedback loop reinforcing r5/r6 expression.

    Evidence Transgenic enhancer reporter mice with site-directed mutagenesis of RARE and T-MARE sites

    PMID:17669392

    Open questions at the time
    • Feedback loop dynamics not quantified
    • Other enhancers controlling non-neural expression not addressed
  18. 2008 Medium

    Identified novel HNF1B protein partners (E4F1, ZFP36L1) and showed ZFP36L1 can dampen HNF1B transactivation, hinting at post-translational/cytoplasmic regulation.

    Evidence Bacterial two-hybrid screen, GST pull-down, reporter assay, co-localization, Xenopus overexpression

    PMID:18418350

    Open questions at the time
    • Interactions found via bacterial two-hybrid without reciprocal in vivo validation
    • Physiological significance of partners unclear
  19. 2008 High

    Established HNF1B as cell-autonomously required for hepatic specification and endoderm competence to respond to inductive FGF.

    Evidence Tetraploid-complemented mouse KO with in vitro FGF responsiveness and zebrafish knockdown, hepatic marker in situ hybridization

    PMID:18635606

    Open questions at the time
    • Direct targets conferring FGF competence not identified
    • Mechanism linking HNF1B to FGF responsiveness unresolved
  20. 2009 Medium

    Linked HNF1B to renal magnesium handling by showing direct FXYD2 promoter transactivation, explaining hypomagnesemia in mutation carriers.

    Evidence Luciferase reporter assay with HNF1 site plus clinical cohort magnesium measurements

    PMID:19389850

    Open questions at the time
    • Endogenous ChIP binding not shown
    • Single-lab clinical association
  21. 2010 High

    Dissected two HNF1B kidney circuits — ureteric bud branching and nephric/Mullerian duct maintenance — and identified direct control of Wnt9b initiating nephrogenesis.

    Evidence Conditional and mosaic Cre/loxP inactivation with ChIP validation of Wnt9b and expression analysis

    PMID:20040500

    Open questions at the time
    • Full target set of each circuit not enumerated
    • Mechanism of duct maintenance incompletely defined
  22. 2012 High

    Revealed HNF1B as a genetic modifier of Pax2 haploinsufficiency, with cooperative control of nephron segmentation and ureter smooth muscle differentiation.

    Evidence Compound heterozygous mouse genetics with molecular-marker in situ hybridization

    PMID:22511595

    Open questions at the time
    • Direct HNF1B-Pax2 molecular interaction not shown
    • Single-lab study
  23. 2015 High

    Resolved HNF1B's pancreatic roles at cellular resolution — progenitor proliferation/survival, duct polarity, acinar differentiation, and direct occupancy of Ngn3 regulatory sequences — and identified Glis3 as a downstream target.

    Evidence Stage-specific conditional KO models with ChIP at Ngn3 sequences, expression and proliferation/apoptosis assays

    PMID:25715395

    Open questions at the time
    • Direct vs cofactor-dependent Ngn3 activation not fully resolved
    • Glis3 regulatory mechanism not detailed
  24. 2017 High

    Defined the cellular mechanism of HNF1B in epithelial morphogenesis — cell-cell contacts, apicobasal polarity, mitotic cell rearrangement — via direct regulation of Ret-pathway genes Gfra1 and Etv5.

    Evidence Ureteric-bud-specific KO with live ex vivo imaging, mRNA-seq, and binding analysis for Gfra1/Etv5

    PMID:29158444

    Open questions at the time
    • Direct polarity-effector targets not fully mapped
    • Mechanism coupling transcription to cell rearrangement unresolved
  25. 2018 High

    Uncovered a cell-non-autonomous fibrotic mechanism: HNF1B directly represses Twist2, and its loss activates a Twist2-EMT network and TGF-β secretion driving interstitial fibrosis without epithelial transdifferentiation.

    Evidence HNF1B-deficient mIMCD3 cells, RNA-seq, ChIP for Twist2, Twist2-knockdown rescue, and lineage tracing in mutant mice

    PMID:30097458

    Open questions at the time
    • Identity of secreted TGF-β ligands not pinned down
    • In vivo fibrosis contribution quantification limited
  26. 2018 Medium

    Showed HNF1B cooperates with ERRγ through convergent genomic binding to control renal reabsorption, linking HNF1B to mitochondrial metabolic gene programs.

    Evidence ERRγ conditional KO mouse, ChIP-seq co-occupancy, and transcriptomic comparison to HNF1B mutants

    PMID:29735694

    Open questions at the time
    • Direct HNF1B-ERRγ physical interaction not confirmed by Co-IP
    • Co-occupancy vs cooperative activity not fully separated
  27. 2018 High

    Demonstrated direct HNF1B activation of CaSR (and Cldn14) in the thick ascending limb, mechanistically linking HNF1B to renal calcium handling, with a binding-defective mutant abolishing activation.

    Evidence ChIP-seq, reporter assay, DNA-binding mutant p.Lys156Glu, siRNA knockdown in TAL cells, and kidney-specific KO mouse

    PMID:29561186

    Open questions at the time
    • Clinical calcium phenotype in carriers not directly tested here
    • Regulation of Cldn10b switch mechanism not detailed
  28. 2019 Medium

    Identified an EZH2→HNF1B→SLUG axis in cancer, showing HNF1B represses SNAI2/SLUG via RBBP7 to suppress EMT and is itself silenced by EZH2.

    Evidence ChIP-seq, RNA-seq, Co-IP for HNF1B-RBBP7, SLUG reporter, and overexpression/knockdown EMT assays

    PMID:31636385

    Open questions at the time
    • Single-lab characterization
    • In vivo tumor relevance of RBBP7 complex not established
  29. 2021 Medium

    Showed HNF1B physically and functionally cooperates with MafA and NeuroD1 to activate Slc2a2/Glut2 in β-cells via simultaneous binding to promoter and distal enhancer.

    Evidence Reporter assays, Co-IP of MafA-NeuroD1-HNF1β, ChIP-seq re-analysis, and binding-site mutagenesis

    PMID:34223824

    Open questions at the time
    • Direct binary interactions within the trimeric complex not fully resolved
    • Single-lab study
  30. 2022 High

    Established HNF1B as sufficient (with cofactors) to specify renal tubular fate in reprogramming, and showed the R295C patient mutation selectively rewires specific target sets rather than globally reducing activity.

    Evidence Fibroblast-to-iREC reprogramming, Xenopus ectodermal organoids, WT vs R295C RNA-seq, and CRISPR knockdown in Xenopus

    PMID:36522156

    Open questions at the time
    • Mechanism by which R295C selects target subsets unknown
    • Cofactor requirements for reprogramming not defined
  31. 2022 High

    Demonstrated that a MODY3 HNF1α truncation acts through physical interaction with HNF1B to impair pancreatic differentiation, and that restoring HNF1B function rescues progenitor and β-cell formation.

    Evidence hiPSC 3D organoids, CRISPR engineering, Co-IP, and HNF1B-overexpression rescue with flow cytometry

    PMID:35235779

    Open questions at the time
    • Structural basis of the inhibitory interaction not defined
    • Extent of rescue in vivo not tested
  32. 2023 High

    Established HNF1B as causally required for uterine (Mullerian duct) development, providing a mechanism for MRKH type II syndrome.

    Evidence Mullerian-duct-specific conditional KO with single-cell RNA-seq and patient material analysis

    PMID:36282544

    Open questions at the time
    • Direct HNF1B targets in Mullerian epithelium not validated by ChIP
    • Genetic basis in MRKH patients not fully resolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • How HNF1B mutations selectively rewire distinct target-gene subsets across tissues, and what tissue-specific cofactors dictate its activator-versus-repressor switch, remain unresolved.
  • No unified model linking specific mutations to organ-specific phenotypes
  • Tissue-specific cofactor codes governing activation vs repression not defined
  • Structural basis of dimerization-dependent target selection unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140110 transcription regulator activity 5 GO:0003677 DNA binding 3
Localization
GO:0000228 nuclear chromosome 4 GO:0005634 nucleus 2
Pathway
R-HSA-1266738 Developmental Biology 6 R-HSA-1643685 Disease 5 R-HSA-74160 Gene expression (Transcription) 5 R-HSA-162582 Signal Transduction 4
Partners
CBPCREBE4F1HNF1ANEUROD1PCAFRBBP7ZFP36L1

Evidence

Reading pass · 35 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1991 HNF1B (vHNF1/LFB3) forms heterodimers with HNF1 (HNF1α) both in vitro and in nuclear extracts of kidney, liver, and cell lines; it also transactivates the albumin promoter in transfection experiments, establishing it as a transcriptional activator. In vitro heterodimerization assay, nuclear extract biochemical characterization, transfection/transactivation assay The EMBO journal High 1673925 1673926
1991 LFB3/HNF1B binds DNA as a dimer and forms heterodimers with LFB1 (HNF1α) both in vitro and in vivo; it acts as a transcriptional activator. DNA binding assays, in vitro and in vivo heterodimerization, transcriptional activation assay The EMBO journal High 1673925
1996 The vHNF1 promoter is transactivated by orphan receptors COUP-TF1/Ear3 and COUP-TFII/Arp1 via an indirect mechanism involving an interaction between COUP-TFI/Ear3 and octamer-binding proteins; a proximal octamer site (not the DR-1 site) is required for this transactivation. HNF4 has virtually no effect on the vHNF1 promoter, unlike the HNF1α promoter. Promoter deletion analysis, DNA-protein interaction (gel shift/footprinting), transfection/transactivation assays, mammalian two-hybrid interaction assay Molecular and cellular biology High 8622679
1997 HNF1B (vHNF1) protein exists in vivo as two isoforms of ~65 and ~68 kDa, revealing differential post-translational modification compared to HNF1α, which appears as a heterogeneous mixture of 92–98 kDa polypeptides (higher than predicted from sequence). Polyclonal and monoclonal antibody characterization of liver and kidney extracts (western blot/immunoprecipitation) Biochimie Medium 9523012
1998 LFB3/HNF1B binds to the C domain of a cAMP-responsive enhancer of the urokinase-type plasminogen activator gene in LLC-PK1 kidney cells and cooperates with CREB/ATF1 proteins to mediate cAMP induction; the region of LFB3 between amino acids 400–450 mediates interaction with CREB/ATF1, and deletion of this region abolishes cAMP induction but not basal transactivation on the albumin promoter. Mutation analysis, transfection assay, mammalian two-hybrid system, domain deletion analysis Molecular and cellular biology High 9671480
1999 Homozygous inactivation of vHNF1/HNF1B in mice results in embryonic lethality by day 7.5 with disorganized visceral endoderm; vHNF1 expression is essential for visceral endoderm differentiation and is part of a genetic network directing HNF4 and downstream endodermal gene expression. The lethal phenotype is cell-autonomous to the visceral endoderm. Homologous recombination knockout mouse, ES cell differentiation, tetraploid morula aggregation (complementation), in situ hybridization of marker genes Development (Cambridge, England) High 10518495
2001 In zebrafish, vhnf1 loss-of-function causes kidney cysts, underdevelopment of pancreas and liver, and otic vesicle defects by disrupting regional patterning; vhnf1 directly regulates expression of pdx1 and shh in gut endoderm, pax2 and wt1 in pronephric primordia, and valentino (val) in hindbrain. Overexpression of vhnf1 expands the val expression domain, demonstrating direct epistatic control. Insertional mutagenesis screen (zebrafish), mRNA overexpression, in situ hybridization of target genes, genetic epistasis Genes & development High 11731484
2002 Hepatocyte/bile-duct-specific deletion of HNF1B in mice causes failure of intrahepatic bile duct morphogenesis, gallbladder abnormalities, and loss of hepatocyte-specific target genes involved in bile acid sensing and fatty acid oxidation, establishing an essential role of HNF1B in bile system morphogenesis and hepatocyte metabolic gene regulation. Cre/loxP conditional knockout (hepatocyte/bile duct-specific), histology, gene expression analysis Development (Cambridge, England) High 11934849
2003 vHNF1/HNF1B directly binds the Kreisler (MafB/val) regulatory element S5 in rhombomere 5/6, and this binding site is essential (but not sufficient) for r5/r6-specific Kreisler expression in early embryos; vHNF1 acts with additional transcription factors to initiate Kreisler expression, establishing direct transcriptional control of hindbrain segmentation. Transgenic reporter (S5 regulatory element), site-directed mutagenesis of vHNF1-binding site, evolutionary sequence conservation analysis Mechanisms of development Medium 16274963
2003 vHNF1 (zebrafish) promotes r5+r6 identity through obligate synergy with FGF signals to activate valentino and krox20, and independently represses hoxb1a expression; these are two functionally separable activities of vhnf1 in subdividing the caudal hindbrain. Zebrafish genetic analysis, FGF pathway inhibition, in situ hybridization, epistasis experiments Development (Cambridge, England) High 12835397
2003 In embryonic pancreas, Hnf1beta+ cells (ductal cells) are the immediate precursors of Ngn3+ endocrine precursor cells; Hnf1beta expression is markedly reduced in early pancreatic epithelium of Hnf6-deficient mice (in which Ngn3+ cell formation is defective), placing Hnf1b downstream of Hnf6 in a genetic hierarchy controlling endocrine cell generation. Immunohistochemistry, genetic epistasis (Hnf6 KO mice), co-localization/lineage analysis Human molecular genetics Medium 14570708
2004 HNF1B/TCF2 mutations causing MODY5 impair transactivation through two distinct mechanisms: (1) loss of DNA-binding capacity, or (2) retention of DNA binding but loss of association with histone acetyltransferases CBP and PCAF. Wild-type HNF1β transactivation depends on synergistic action of CBP and PCAF; truncation mutations causing defective nuclear localization show weak dominant-negative activity; the C-terminal QSP-rich domain is required for full transactivation. In vitro mutagenesis, transfection/reporter assay, co-immunoprecipitation with CBP/PCAF, nuclear localization studies, HDAC inhibitor (TSA) treatment Human molecular genetics High 15509593
2004 vHNF1/HNF1B integrates retinoic acid (RA) signals and FGF signals in hindbrain patterning: RA induces val expression via activation of vhnf1; FGF signals from r4 (through MAPK pathway) then cooperate with Vhnf1 to activate val and specify r5/r6. vhnf1 acts largely independently of val to repress r4 identity in the posterior hindbrain. Zebrafish genetic analysis, RA treatment, FGF pathway manipulation, MAPK pathway analysis, in situ hybridization, epistasis experiments Development (Cambridge, England) High 15342476
2005 Tcf2/vHNF1 is essential for early pancreas development; Tcf2-null mice (rescued from early lethality by tetraploid aggregation) exhibit pancreas agenesis by E13.5. The dorsal bud rudiment that forms transiently expresses Ipf1 and Hlxb9 but lacks Ptf1a and endocrine precursor cells. Tcf2 also controls regional specification of gut (ectopic Shh, loss of Ihh/Ipf1 in posterior stomach/duodenum), establishing epistatic control of Ptf1a and gut patterning genes. Tetraploid embryo aggregation rescue of null embryos, in situ hybridization of key transcription factors, immunohistochemistry Proceedings of the National Academy of Sciences of the United States of America High 15668393
2005 HNF1B directly regulates the Pkhd1 promoter in kidney; HNF1B mutant mice show decreased Pkhd1 expression and develop renal cysts, linking MODY5/HNF1B-associated cystic kidney disease to downregulation of the ARPKD gene PKHD1. Transgenic mice with kidney-specific mutant HNF1B, Cre/loxP kidney-specific deletion, promoter binding/ChIP for Pkhd1, gene expression analysis Kidney international High 16221171
2005 HNF1β target genes identified in HEK293 kidney cells include DPP4, ACE2, and osteopontin (SPP1), which contain functional HNF1 binding sites in their promoters and are directly regulated; nine of 25 identified target genes are deregulated in ovarian clear cell carcinoma. Conditional HNF1B expression system (Flp recombinase, tetracycline-inducible), oligonucleotide microarray, promoter analysis for HNF1 binding sites Biochimica et biophysica acta Medium 16297991
2006 In zebrafish, Bmp signaling is required for vhnf1 expression in endoderm (Bmp pathway activation expands, Bmp pathway loss reduces vhnf1); Fgf signaling regulates pancreas development through the vhnf1 pathway; vhnf1 acts downstream of RA, Bmp, and Fgf signals to regulate endocrine beta cell development. RA cannot rescue vhnf1 mutant insulin defects, but vhnf1 overexpression restores insulin expression blocked by RA receptor inhibition. Morpholino knockdown (chordin, alk8), FGF pathway inhibition, RA receptor inhibitor, mRNA overexpression rescue, in situ hybridization, genetic epistasis Developmental biology High 17217944
2006 vHNF1/TCF2 (acting upstream) activates HNF6 expression through a functional HNF1-binding site in an intronic enhancer of Hnf6; this establishes a vHNF1→HNF6→Pdx1 sequential cascade controlling generation of pancreatic precursor cells in the endoderm. In vitro protein-DNA interaction, endoderm electroporation reporter assay, transgenesis, gene inactivation, Hnf6 KO mice, Tcf2 KO mice Diabetes High 16380477
2007 HNF1β directly binds the SOCS3 promoter and represses SOCS3 transcription in kidney epithelial cells. In HNF1β knockout mice and cells expressing dominant-negative HNF1β, increased SOCS3 inhibits HGF-induced tubulogenesis by decreasing phosphorylation of ERK and STAT3. Knockdown of SOCS3 in dominant-negative HNF1β-expressing cells rescues tubulogenesis by restoring ERK and STAT3 phosphorylation. Genome-wide ChIP-chip (chromatin immunoprecipitation + microarray), mRNA microarray, HNF1β knockout mouse, dominant-negative HNF1β cell line, SOCS3 knockdown rescue, tubulogenesis assay Proceedings of the National Academy of Sciences of the United States of America High 18077349
2007 A conserved 800-bp enhancer in intron 4 of vHnf1 recapitulates its neural expression pattern in transgenic mice; functional analysis identifies two essential motif types: a retinoic acid response element and two half T-MARE sites, demonstrating direct integration of RA signaling and MAF-related factor inputs into vHnf1 expression. MAFB, itself regulated by vHNF1, acts as a positive modulator of vHnf1 in r5/r6 (feedback loop). Transgenic enhancer reporter mice, site-directed mutagenesis of RARE and T-MARE sites Developmental biology High 17669392
2008 HNF1β interacts physically with five novel protein partners (including E4F1 and ZFP36L1) identified by bacterial two-hybrid screen using the N-terminal region of HNF1B, with four confirmed by GST pull-down. ZFP36L1, predominantly cytoplasmic, can reduce HNF1β transactivation in a luciferase reporter system. E4F1 co-localizes with HNF1β in the nucleus. Bacterial two-hybrid screen, GST pull-down confirmation, luciferase reporter assay, co-localization by immunofluorescence, Xenopus overexpression for phenotypic validation Kidney international Medium 18418350
2008 vHNF1 (HNF1B) is required cell-autonomously for hepatic specification; loss of vHnf1 in mouse ventral endoderm blocks thickening, expression of hepatic genes, and responsiveness to inductive FGF signals in vitro. In zebrafish, the same conserved role is confirmed, establishing vHNF1 as required for endoderm competence and hepatic specification. Tetraploid complementation (vHnf1 KO mouse), in vitro culture of mutant ventral endoderm with FGF, zebrafish knockdown, in situ hybridization of hepatic specification markers (albumin, transthyretin) Development (Cambridge, England) High 18635606
2009 HNF1B directly transactivates the FXYD2 promoter (shown by luciferase reporter assay), and HNF1B mutations associate with hypomagnesemia and renal magnesium wasting, establishing that HNF1B regulates FXYD2 transcription to control tubular Mg2+ handling. Luciferase reporter assay with HNF1 recognition site in FXYD2 promoter, clinical cohort analysis with plasma magnesium measurements Journal of the American Society of Nephrology : JASN Medium 19389850
2010 vHNF1 (HNF1B) controls early kidney development through two distinct regulatory circuits: (1) it regulates ureteric bud (UB) outgrowth and branching morphogenesis in a cell-autonomous manner; (2) it maintains nephric duct epithelium, controls Müllerian duct formation, and regulates early nephrogenesis. vHNF1 directly controls Wnt9b, which acts upstream of mesenchymal-epithelial transitions initiating nephrogenesis. Conditional (Cre/loxP) and mosaic inactivation of vHnf1 in mouse kidney, in situ hybridization and expression analysis of Wnt9b and other target genes, ChIP for direct target confirmation Development (Cambridge, England) High 20040500
2012 Compound heterozygous inactivation of Hnf1b and Pax2 in mice produces severe CAKUT phenotypes beyond those of either single heterozygote, revealing Hnf1b as a modifier of Pax2 haploinsufficiency. Compound mutants show delayed nephron segmentation, increased apoptosis, reduced Lim1/Wnt4 expression, and perturbation of ureter smooth muscle differentiation with downregulation of Bmp4 and Tbx18, establishing cooperative roles in kidney and ureter morphogenesis. Compound heterozygous mouse genetics, in situ hybridization, expression analysis of molecular markers Human molecular genetics High 22511595
2015 Conditional inactivation of Hnf1b in mouse pancreas causes: (1) reduced pancreatic multipotent progenitor cell pool due to decreased proliferation and increased apoptosis; (2) cystic ducts with aberrant cell polarity and decreased expression of cystic disease genes; (3) loss/abnormal differentiation of acinar cells; and (4) absence of Ngn3+ endocrine precursors throughout embryogenesis. HNF1B directly occupies putative Ngn3 regulatory sequences in vivo. Glis3 is identified as a novel HNF1B downstream target controlling duct morphogenesis and endocrine development. Constitutive and inducible conditional Cre/loxP inactivation of Hnf1b at different developmental stages, ChIP (HNF1B occupancy at Ngn3 regulatory sequences), expression analysis, cell proliferation/apoptosis assays Development (Cambridge, England) High 25715395
2017 Specific removal of Hnf1b from the ureteric bud causes defective cell-cell contacts, loss of apicobasal polarity, and decreased cell rearrangements during mitosis-associated cell dispersal, leading to severe epithelial disorganization, mispatterned ureteric tree, and cystogenesis. HNF1B acts both upstream and downstream of Ret signaling by directly regulating Gfra1 and Etv5. Ureteric bud-specific Cre/loxP conditional KO, high-resolution ex vivo live imaging with membranous fluorescent reporter, mRNA-seq, promoter/binding analysis for Gfra1/Etv5 Development (Cambridge, England) High 29158444
2018 HNF1β directly represses Twist2 transcription in renal epithelial cells. Loss of HNF1β activates a Twist2-dependent transcriptional network including Snail1, Snail2, and Zeb2 (EMT transcription factors). HNF1β-deficient epithelial cells secrete high levels of TGF-β ligands that activate Smad transcription factors in renal interstitial cells, causing fibrosis through a cell-non-autonomous mechanism (not by direct epithelial-to-myofibroblast transdifferentiation, as shown by lineage tracing). HNF1β-deficient mIMCD3 cells, RNA-seq, ChIP (direct Twist2 repression), Twist2 knockdown rescue, cell lineage analysis in HNF1β mutant mice Journal of the American Society of Nephrology : JASN High 30097458
2018 ERRγ and HNF1β cooperate to control renal reabsorption through convergent genomic binding; ERRγ directly regulates mitochondrial metabolism and cooperatively controls renal reabsorption via convergent binding with HNF1β. Deletion of ERRγ in renal epithelial cells phenocopies HNF1β loss-of-function, producing overlapping renal transcriptional signatures. Conditional renal epithelial ERRγ KO mouse, ChIP-seq showing co-occupancy, transcriptomic comparison to HNF1β mutant phenotype Proceedings of the National Academy of Sciences of the United States of America Medium 29735694
2018 HNF1β is a transcriptional activator of the calcium-sensing receptor (CaSR) gene in the thick ascending limb (TAL) of the kidney; a conserved HNF1β binding site in CaSR intron 2 mediates this activation. A DNA-binding-deficient HNF1β mutant (p.Lys156Glu) abolishes CaSR expression. Hnf1β knockdown in TAL cells reduces CaSR and Cldn14 expression and upregulates Cldn10b; kidney-specific HNF1β KO mice show 81% downregulation of Casr. HNF1β ChIP-seq (binding site identification), luciferase-promoter assay, DNA-binding mutant (p.Lys156Glu), Hnf1β siRNA knockdown in MKTAL cells, kidney-specific HNF1β KO mouse, qRT-PCR American journal of physiology. Renal physiology High 29561186
2019 HNF1B transcriptionally represses SLUG (SNAI2) expression through interaction with RBBP7/RbAP46, and this repression suppresses EMT. EZH2 directly binds the HNF1B locus and suppresses HNF1B expression in prostate cancer cells, establishing an EZH2→HNF1B→SLUG axis regulating EMT. ChIP-seq (HNF1B promoter binding by EZH2; HNF1B target gene binding), RNA-seq, Co-IP (HNF1B–RBBP7 interaction), luciferase reporter for SLUG, overexpression/knockdown cell assays, clinical correlation Oncogene Medium 31636385
2021 MafA, NeuroD1, and HNF1β synergistically activate the Slc2a2 (Glut2) gene in β-cells through simultaneous binding to both the proximal promoter and a distal enhancer (ECR3') ~40 kb downstream. Co-immunoprecipitation suggests MafA, NeuroD1, and HNF1β physically interact with each other; simultaneous HNF1β binding to both regulatory elements is indispensable for transcriptional activation. Luciferase reporter assay, co-immunoprecipitation (MafA–NeuroD1–HNF1β complex), ChIP-seq data re-analysis, mutagenesis of binding sites Journal of molecular endocrinology Medium 34223824
2022 HNF1B is essential for reprogramming mouse fibroblasts to induced renal tubular epithelial cells (iRECs) and for inducing ectopic pronephric tissue in Xenopus ectodermal organoids. The patient mutation R295C retains overall reprogramming capacity but selectively alters expression of specific downstream target gene sets rather than globally reducing HNF1β transcriptional activity. Cross-species conserved HNF1B transcriptional targets are dysregulated in hnf1b CRISPR-depleted Xenopus embryos. Direct reprogramming of mouse fibroblasts, Xenopus ectodermal explant assay, bulk RNA-seq (wild-type vs. R295C mutant), CRISPR/Cas9 in Xenopus Journal of the American Society of Nephrology : JASN High 36522156
2022 The HNF1αp291fsinsC truncation (MODY3) interacts with HNF1β and inhibits its function in pancreatic progenitor differentiation; disrupting the HNF1α–HNF1β interaction partially rescues HNF1β-dependent transcription. HNF1β overexpression in the HNF1αp291fsinsC background increases PDX1+ progenitors and partially rescues β cell differentiation. hiPSC-derived 3D organoids, CRISPR/Cas9 engineering, Co-IP (HNF1αp291fsinsC–HNF1β interaction), HNF1β overexpression rescue, flow cytometry for progenitor markers Cell reports High 35235779
2023 Müllerian duct-specific ablation of Hnf1b in mice causes hypoplastic uterine development and kidney anomalies, mirroring Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type II. Single-cell RNA sequencing of uterine tissue from Hnf1b-ablated embryos reveals dysregulation of cell proliferation, migration, and differentiation pathways downstream of Hnf1b. Müllerian duct epithelium-specific Cre/loxP conditional KO, single-cell RNA sequencing, microarray analysis of patient material Human molecular genetics High 36282544

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2002 Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta. Development (Cambridge, England) 276 11934849
1991 vHNF1 is a homeoprotein that activates transcription and forms heterodimers with HNF1. The EMBO journal 276 1673926
2014 HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. Nature reviews. Nephrology 253 25536396
2005 Lack of TCF2/vHNF1 in mice leads to pancreas agenesis. Proceedings of the National Academy of Sciences of the United States of America 200 15668393
1999 Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differentiation. Development (Cambridge, England) 195 10518495
2017 TTBK2 circular RNA promotes glioma malignancy by regulating miR-217/HNF1β/Derlin-1 pathway. Journal of hematology & oncology 189 28219405
2009 HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. Journal of the American Society of Nephrology : JASN 187 19389850
1999 Expression of the vHNF1/HNF1beta homeoprotein gene during mouse organogenesis. Mechanisms of development 182 10559500
1991 LFB3, a heterodimer-forming homeoprotein of the LFB1 family, is expressed in specialized epithelia. The EMBO journal 181 1673925
2001 vhnf1, the MODY5 and familial GCKD-associated gene, regulates regional specification of the zebrafish gut, pronephros, and hindbrain. Genes & development 172 11731484
2006 Expression of hepatocyte nuclear factor-1beta (HNF-1beta) in clear cell tumors and endometriosis of the ovary. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 170 16258507
1992 Expression patterns of vHNF1 and HNF1 homeoproteins in early postimplantation embryos suggest distinct and sequential developmental roles. Development (Cambridge, England) 151 1363228
1992 LFB1 and LFB3 homeoproteins are sequentially expressed during kidney development. Development (Cambridge, England) 131 1350532
2003 Hnf6 and Tcf2 (MODY5) are linked in a gene network operating in a precursor cell domain of the embryonic pancreas. Human molecular genetics 123 14570708
2006 Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations. Human molecular genetics 118 16801329
2015 HNF1B-associated clinical phenotypes: the kidney and beyond. Pediatric nephrology (Berlin, Germany) 113 26160100
2014 The HNF1B score is a simple tool to select patients for HNF1B gene analysis. Kidney international 106 24897035
2015 Hnf1b controls pancreas morphogenesis and the generation of Ngn3+ endocrine progenitors. Development (Cambridge, England) 103 25715395
2004 vhnf1 integrates global RA patterning and local FGF signals to direct posterior hindbrain development in zebrafish. Development (Cambridge, England) 95 15342476
2005 Identification of target genes of the transcription factor HNF1beta and HNF1alpha in a human embryonic kidney cell line. Biochimica et biophysica acta 94 16297991
1991 vHNF1 is expressed in epithelial cells of distinct embryonic origin during development and precedes HNF1 expression. Mechanisms of development 93 1685890
2008 Lack of pancreatic body and tail in HNF1B mutation carriers. Diabetic medicine : a journal of the British Diabetic Association 90 18644064
2007 Distinct roles of HNF1beta, HNF1alpha, and HNF4alpha in regulating pancreas development, beta-cell function and growth. Endocrine development 88 17923767
2004 HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment. Human molecular genetics 88 15509593
2005 Roles of HNF-1beta in kidney development and congenital cystic diseases. Kidney international 86 16221171
2010 vHNF1 functions in distinct regulatory circuits to control ureteric bud branching and early nephrogenesis. Development (Cambridge, England) 84 20040500
2009 Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes. PloS one 75 19924231
2006 A vHNF1/TCF2-HNF6 cascade regulates the transcription factor network that controls generation of pancreatic precursor cells. Diabetes 74 16380477
2003 vhnf1 and Fgf signals synergize to specify rhombomere identity in the zebrafish hindbrain. Development (Cambridge, England) 73 12835397
2018 New insights into the role of HNF-1β in kidney (patho)physiology. Pediatric nephrology (Berlin, Germany) 72 29961928
2008 Crucial role of vHNF1 in vertebrate hepatic specification. Development (Cambridge, England) 71 18635606
1996 Positive regulation of the vHNF1 promoter by the orphan receptors COUP-TF1/Ear3 and COUP-TFII/Arp1. Molecular and cellular biology 71 8622679
2016 Early Developmental Perturbations in a Human Stem Cell Model of MODY5/HNF1B Pancreatic Hypoplasia. Stem cell reports 63 26876668
2003 Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development. Journal of the American Society of Nephrology : JASN 63 12874457
2016 Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. Kidney international 62 27234567
2007 Mutations of HNF-1beta inhibit epithelial morphogenesis through dysregulation of SOCS-3. Proceedings of the National Academy of Sciences of the United States of America 58 18077349
2018 17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5. The Journal of clinical endocrinology and metabolism 52 30032214
2017 HNF1B controls epithelial organization and cell polarity during ureteric bud branching and collecting duct morphogenesis. Development (Cambridge, England) 50 29158444
2018 Mechanism of Fibrosis in HNF1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease. Journal of the American Society of Nephrology : JASN 49 30097458
1994 Cloning and developmental expression of LFB3/HNF1 beta transcription factor in Xenopus laevis. Mechanisms of development 48 7524626
2015 HNF1β drives glutathione (GSH) synthesis underlying intrinsic carboplatin resistance of ovarian clear cell carcinoma (OCCC). Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 47 26520442
2004 Pattern of genes influenced by conditional expression of the transcription factors HNF6, HNF4alpha and HNF1beta in a pancreatic beta-cell line. Nucleic acids research 46 15520459
2022 Dysregulation of HNF1B/Clusterin axis enhances disease progression in a highly aggressive subset of pancreatic cancer patients. Carcinogenesis 45 36426859
2018 Genomic integration of ERRγ-HNF1β regulates renal bioenergetics and prevents chronic kidney disease. Proceedings of the National Academy of Sciences of the United States of America 43 29735694
2019 HNF1B-mediated repression of SLUG is suppressed by EZH2 in aggressive prostate cancer. Oncogene 41 31636385
2013 Integrative bioinformatics links HNF1B with clear cell carcinoma and tumor-associated thrombosis. PloS one 41 24040285
2010 HNF1B and JAZF1 genes, diabetes, and prostate cancer risk. The Prostate 41 19998368
2015 Ovarian clear cell carcinoma meets metabolism; HNF-1β confers survival benefits through the Warburg effect and ROS reduction. Oncotarget 40 26375553
2019 Clinical characteristics of HNF1B-related disorders in a Japanese population. Clinical and experimental nephrology 38 31131422
2012 Hnf1b and Pax2 cooperate to control different pathways in kidney and ureter morphogenesis. Human molecular genetics 38 22511595
2011 Genetic basis of prune belly syndrome: screening for HNF1β gene. The Journal of urology 38 22114815
2019 Frequency and Characteristics of MODY 1 (HNF4A Mutation) and MODY 5 (HNF1B Mutation): Analysis From the DPV Database. The Journal of clinical endocrinology and metabolism 37 30535056
2015 Metabolic alterations caused by HNF1β expression in ovarian clear cell carcinoma contribute to cell survival. Oncotarget 37 26318292
2016 HNF1B variants associate with promoter methylation and regulate gene networks activated in prostate and ovarian cancer. Oncotarget 35 27732966
2015 Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review. World journal of gastroenterology 35 25741167
2018 Heterogeneity of SOX9 and HNF1β in Pancreatic Ducts Is Dynamic. Stem cell reports 33 29478894
2007 Expression of HNF-4alpha (MODY1), HNF-1beta (MODY5), and HNF-1alpha (MODY3) proteins in the developing mouse pancreas. Gene expression patterns : GEP 32 17996499
2023 The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored. Cells 29 36672242
2022 An HNF1α truncation associated with maturity-onset diabetes of the young impairs pancreatic progenitor differentiation by antagonizing HNF1β function. Cell reports 29 35235779
2005 vHnf1 regulates specification of caudal rhombomere identity in the chick hindbrain. Developmental dynamics : an official publication of the American Association of Anatomists 26 16110512
2015 HNF1β and S100A1 are useful biomarkers for distinguishing renal oncocytoma and chromophobe renal cell carcinoma in FNA and core needle biopsies. Cancer cytopathology 24 25739652
2007 Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations. Journal of pediatric urology 24 17476318
2007 Direct regulation of vHnf1 by retinoic acid signaling and MAF-related factors in the neural tube. Developmental biology 24 17669392
2005 The vHNF1 homeodomain protein establishes early rhombomere identity by direct regulation of Kreisler expression. Mechanisms of development 23 16274963
2017 HNF1B Loss Exacerbates the Development of Chromophobe Renal Cell Carcinomas. Cancer research 22 28807937
2008 Transcription factor HNF1beta and novel partners affect nephrogenesis. Kidney international 22 18418350
2023 Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome. Human molecular genetics 21 36282544
2020 Genotype and Phenotype Analyses in Pediatric Patients with HNF1B Mutations. Journal of clinical medicine 21 32708349
2006 Vhnf1 acts downstream of Bmp, Fgf, and RA signals to regulate endocrine beta cell development in zebrafish. Developmental biology 21 17217944
2022 Extensive germline-somatic interplay contributes to prostate cancer progression through HNF1B co-option of TMPRSS2-ERG. Nature communications 20 36443337
2021 MNX1-HNF1B Axis Is Indispensable for Intraductal Papillary Mucinous Neoplasm Lineages. Gastroenterology 20 34953915
2020 Napsin-A and AMACR are Superior to HNF-1β in Distinguishing Between Mesonephric Carcinomas and Clear Cell Carcinomas of the Gynecologic Tract. Applied immunohistochemistry & molecular morphology : AIMM 20 31361605
2017 Biliary Anomalies in Patients With HNF1B Diabetes. The Journal of clinical endocrinology and metabolism 20 28324003
2015 Expression, Epigenetic and Genetic Changes of HNF1B in Endometrial Lesions. Pathology oncology research : POR 20 26685938
2006 Role of the hindbrain in patterning the otic vesicle: a study of the zebrafish vhnf1 mutant. Developmental biology 20 17137573
2021 Acquired Evolution of Mitochondrial Metabolism Regulated by HNF1B in Ovarian Clear Cell Carcinoma. Cancers 19 34067626
2018 Genome-wide methylomic analysis in individuals with HNF1B intragenic mutation and 17q12 microdeletion. Clinical epigenetics 19 30021660
1998 Role of tissue-specific transcription factor LFB3 in a cyclic AMP-responsive enhancer of the urokinase-type plasminogen activator gene in LLC-PK1 cells. Molecular and cellular biology 19 9671480
2020 HNF1B inhibits cell proliferation via repression of SMAD6 expression in prostate cancer. Journal of cellular and molecular medicine 18 33174391
2018 Transcription factor HNF1β regulates expression of the calcium-sensing receptor in the thick ascending limb of the kidney. American journal of physiology. Renal physiology 18 29561186
2016 Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors. Diabetologia 18 27059371
2013 Expression patterns of candidate susceptibility genes HNF1β and CtBP2 in prostate cancer: association with tumor progression. Urologic oncology 18 24332637
1990 Mapping of the gene TCF2 coding for the transcription factor LFB3 to human chromosome 17 by polymerase chain reaction. Genomics 18 2081590
2022 HNF1B Alters an Evolutionarily Conserved Nephrogenic Program of Target Genes. Journal of the American Society of Nephrology : JASN 17 36522156
2016 Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation. Pediatric nephrology (Berlin, Germany) 16 27286685
2014 Identification and Functional Characterization of P159L Mutation in HNF1B in a Family with Maturity-Onset Diabetes of the Young 5 (MODY5). Genomics & informatics 16 25705165
2004 Two distinct teleost hepatocyte nuclear factor 1 genes, hnf1alpha/tcf1 and hnf1beta/tcf2, abundantly expressed in liver, pancreas, gut and kidney of zebrafish. Gene 16 15302404
1995 Role of LFB3 in cell-specific cAMP induction of the urokinase-type plasminogen activator gene. The Journal of biological chemistry 16 7665606
2024 HNF1B Transcription Factor: Key Regulator in Renal Physiology and Pathogenesis. International journal of molecular sciences 15 39408938
2019 Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review. Italian journal of pediatrics 15 30791938
2013 Hnf1beta and nephron segmentation. Pediatric nephrology (Berlin, Germany) 15 24190171
2008 hnf1b genes in zebrafish hindbrain development. Zebrafish 15 18945197
2024 Exosomal circ50547 as a potential marker and promotor of gastric cancer progression via miR-217/HNF1B axis. Translational oncology 13 38692196
2024 Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions. Kidney international reports 13 39156164
2021 MafA, NeuroD1, and HNF1β synergistically activate the Slc2a2 (Glut2) gene in β-cells. Journal of molecular endocrinology 13 34223824
2016 Forced expression of Hnf1b/Foxa3 promotes hepatic fate of embryonic stem cells. Biochemical and biophysical research communications 13 27107701
2015 Expression of HNF-1β in cervical carcinomas: an immunohistochemical study of 155 cases. Diagnostic pathology 13 25884453
2004 Scanning for MODY5 gene mutations in Chinese early onset or multiple affected diabetes pedigrees. Acta diabetologica 12 15660195
1997 A set of polyclonal and monoclonal antibodies reveals major differences in post-translational modification of the rat HNF1 and vHNF1 homeoproteins. Biochimie 12 9523012
2013 HNF-1β mutation affects PKD2 and SOCS3 expression causing renal cysts and diabetes in MODY5 kindred. Journal of nephrology 11 22641569

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