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HNF1B mutation represents a differential diagnosis of polyhydramnios associated with hyperechogenic (and sometimes enlarged) kidneys
The functional, biochemical, and structural characterisation of the nuclear localisation signal present on HNF1beta and its interaction with the nuclear import protein Importin (show KPNA2 Proteins)-alpha.
HNF1beta was a direct target of miR (show MLXIP Proteins)-217, and played oncogenic role in glioma cells.
This review discusses the role of HNF1B in human and murine pancreas and liver development, summarizes the disease phenotypes and identifies areas for future investigations in HNF1B-associated diabetes and liver disease. [Review Article]
Low HNF1B expression is associated with Chromophobe Renal Cell Carcinomas.
17q12 deletions but not HNF1B intragenic mutations are associated with neurodevelopmental disorders. Hence, the HNF1B gene is not involved in the neurodevelopmental phenotype of these patients.
Results identified HNF1A/B as a good candidates to master the regulation of pancreatic differentiation, which at the protein level loses its expression in malignant ductal cells of the pancreas, suggesting its putative role as tumor suppressor in pancreatic cancer.
Structural anomalies of the biliary system were common in HNF1B mutation carriers.
Study have shown that expression of specific miRNAs depends on HNF1beta function. The impact of HNF1beta deficiency was evidenced at serum level, making HNF1beta-dependent miRNAs potentially applicable in the diagnosis of HNF1B-MODY (show HNF4A Proteins).
HNF1B mutation was associated with congenital anomalies of the kidney and urinary tract, as well as pancreatic hypoplasia.
Overexpression of two mutant HNF1B derivatives resulted in distinct phenotypes reflected by either a reduction or an enlargement of pronephros size.
nephrogenic transcription factors (osr1 (show OSR1 Proteins), osr2, hnf1b, lhx1 (show LHX1 Proteins), pax8 (show PAX8 Proteins))play important role in nephrogenesis but have no pronephros induction potential upon overexpression; they activate transcription cascades reflecting activation by activin A (show INHBA Proteins), retinoic acid
CHOP (GADD153 (show DDIT3 Proteins)) is an inhibitor of Wnt (show WNT2 Proteins)/TCF (show HNF4A Proteins) signals
Hnf1b deletion leads to massively mispatterned ureteric tree network, defective collecting duct differentiation and disrupted tissue architecture, which leads to cystogenesis. This study uncovers a fundamental and recurring role of HNF1B in epithelial organization during early ureteric bud branching and in further patterning and differentiation of the collecting duct system in mouse.
These results demonstrated the crucial role of Hnf1b and Foxa3 (show FOXA3 Proteins) in hepatogenesis in vitro and provided a valuable tool for the efficient differentiation of HLCs (show HLCS Proteins) from ES cells.
HNF-1beta Regulates MicroRNA-200 Expression through a Long Noncoding RNA
TNFalpha (show TNF Proteins) regulates uromodulin (show UMOD Proteins) expression in a homeostatic setting, but the impact of TNFalpha (show TNF Proteins) on uromodulin (show UMOD Proteins) during kidney injury is superseded by other factors that could inhibit HNF1beta-mediated expression of uromodulin (show UMOD Proteins).
Hypoxia induced early up-regulation of Hnf-1beta from 1 to 24 hours, independently of the hypoxia-inducible factor Hif-1alpha (show HIF1A Proteins).
Zyxin (show ZYX Proteins) regulates migration of renal epithelial cells through activation of hepatocyte nuclear factor-1beta.
HNF1B controls proximal-intermediate nephron segment identity in vertebrates by regulating Notch (show NOTCH1 Proteins) signalling components and Irx1 (show IRX1 Proteins)/2.
identification of Hnf1b as a target of miR (show MLXIP Proteins)-802-dependent silencing; show that short hairpin RNA (shRNA)-mediated reduction of Hnf1b in liver causes glucose intolerance, impairs insulin (show INS Proteins) signalling and promotes hepatic gluconeogenesis
Hnf1b and Pax2 (show PAX2 Proteins) operate to control kidney morphogenesis and ureter differentiation.
Data show that hnf1ba generates a permissive domain for Wnt (show WNT2 Proteins) signaling activity in the foregut endoderm
Knockdown of pk1a led to decreased expression of vhnf1, a homeodomain gene previously shown to be involved in biliary development and in kidney cyst formation; forced expression of vhnf1 mRNA led to rescue of the pk1a morphant phenotype
Data show that vhnf1 functions in two ways to subdivide the zebrafish caudal hindbrain domain (r4-r7) into individual rhombomeres.
Zebrafish tcf2 gene, composed of 9 exons, was mapped to linkage group LG15.
vhnf1 acts largely independently of val to repress the rhombomere 4 'hox (show MSH2 Proteins) code' posterior to the rhombomere 4-5 boundary
Vhnf1 expression within the posterior neural tube (up to r5) promotes posterior and dorsal fates in the otic vesicle, at the expense of anterior and ventral fates.
investigated the signaling pathways that regulate vhnf1 expression during pancreas development
Data show that zebrafish mutants for Tcf2 fail to specify a single lumen in their gut (show GUSB Proteins) tube and instead develop multiple lumens, and show that Tcf2 controls single lumen formation by regulating claudin15 and Na+/K+-ATPase (show ATP1A1 Proteins) expression.
vHNF1 plays crucial role at the earliest steps of liver induction: the acquisition of endoderm competence and the hepatic specification.
It was concluded that hnf1b(hi2169) is hypomorphic to hnf1b(hi1843) and that, while hnf1b is required for r5/r6 gene expression in the hindbrain, r5/r6 gene expression can be experimentally induced independently of hnf1b anterior to the hindbrain.
This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.
transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor
, HNF1 homeobox B
, HNF1 beta A
, hepatocyte nuclear factor 1-beta
, homeoprotein LFB3
, transcription factor 2, hepatic
, FPC-binding protein
, variant hepatic nuclear factor 1
, hepatocyte nuclear factor-1 beta
, transcription factor 2
, Transcription factor 2 hepatic
, Transcription factor 2 hepatic; LF-B3; variant hepatic nuclear factor
, Transcription factor 2, hepatic
, Transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor
, hepatocyte nuclear factor 1 beta
, HNF1 homeobox b
, hepatocyte nuclear factor 1-beta-2
, hepatocyte nuclear factor 1-beta-A