HNF1B

..lead to a syndrome with diabetes and urogenital malformations [maturity onset of diabetes of the young, type 5 (MODY5)]...

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..and progressive renal insufficiency are features associated with familial juvenile hyperuricemic nephropathy (FJHN), medullary cystic kidney disease type 1 (MCKD1) and type 2 (MCKD2). MCKD1 has been mapped to chromosome 1q21...

..7 x 10(-29)). We confirmed previous reports of common loci associated with prostate cancer at 8q24 and 17q. Moreover, we found that three of the newly identified loci contain candidate susceptibility genes: MSMB, LMTK2 and KLK3...

We carried out a fine-mapping study in the HNF1B gene at 17q12 in two study populations and identified a second locus associated with prostate cancer risk, approximately 26 kb centromeric to the first known locus (rs4430796); these loci ..

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..One of the variants is in TCF2 (HNF1beta), a gene known to be mutated in individuals with maturity-onset diabetes of the young type 5...

..of cDNAs from human liver encoding several isoforms of the hepatocyte nuclear factor homeoproteins HNF1 and vHNF1 generated by the differential use of polyadenylation sites and by alternative splicing...

..These studies define a pair of homeo domain proteins that have the potential to interact to produce an embryologically complex pattern of gene expression...

..of HNF-1beta gene has been reported in early onset diabetes or MODY families and this gene has been defined as MODY5 gene...

..However, physiological assessment of the HNF-1beta phenotype is limited. We aimed to test the hypothesis that the diabetes phenotype due to HNF-1beta mutations is similar to that in HNF-1alpha...

..Specifically, we determined patterns of common sequence variation in the genes encoding Gck, Ipf1, Tcf2, and NeuroD1 (MODY2 and MODY4-MODY6, respectively), selected a comprehensive set of 107 tag single nucleotide ..

..Induction of cyclin D1 activity by pp60(v-src) may contribute to breast tumorigenesis through phosphorylation and inactivation of the retinoblastoma protein...

..We also propose that a comparative mapping of paralogous genes within the human genome would be useful for identifying new genes...

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..To observe the effects of Qishe Pill, a compound traditional Chinese herbal medicine, on lumbar vertebral bone formation induced by long-time upright posture in rats and to investigate the potential mechanism...

..Our studies demonstrate that the stimulatory effect of high glucose on ANG gene expression and IRPTC hypertrophy may be mediated at least in part via activation of hexosamine biosynthesis pathway signaling...

..Moreover, perineuronal microglial cells showed strong expression of p38 MAP kinase, active and inactive, after axotomy in both nuclei. These findings suggest that p38 MAP kinase is related to microglial cell reactions after axotomy...

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..The gene for familial juvenile hyperuricemic nephropathy (FJHN), a phenotype that is very similar to MCKD, was recently mapped to 16p12, in a region overlapping with the MCKD2 ..

..This study shows that a general transcription factor, TFIIA gamma, facilitates osteoblast-specific gene expression through interactions with two important bone transcription factors ATF4 and Runx2...

..Previous studies showed that Nell-1 accelerates osteogenic differentiation in vitro and calvarial bone formation in vivo. We hypothesize that Nell-1 may also effectively form bone in spinal fusion...

..This article is part of a Special Issue entitled: 11th European Symposium on Calcium...

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..Further in vivo experiments should be carried out to confirm the capacity of P(VDF-TrFE)/BT membrane in promoting bone formation in guided bone regeneration...

..Therefore, we investigated the expression of c-Jun and ATF-2 protein in the immature and adult rat hippocampus to understand their roles in LPSE-induced neuronal death...

..Thus, in U937 cells, VacA directly increases IL-8 production by activation of the p38 MAPK via intracellular Ca(2+) release, leading to activation of the transcription factors, ATF-2, CREB, and NF-kappaB...

..in the Uromodulin (UMOD) gene were published in patients with familial juvenile hyperuricemic nephropathy (FJHN) and MCKD2. Clinical data and blood samples of 16 affected individuals from 11 different kindreds were collected...

..Zinc compounds may be designed as new supplementation factor in the prevention and therapy of osteoporosis...

..These results indicate that polyamines modulate the stability of ATF-2 mRNA by altering cytoplasmic HuR levels and that polyamine-modulated ATF-2 expression plays a critical role in regulating epithelial apoptosis...

..However, changes of FKBP enzymatic activity result in suppression of the stress cell body response in the peri-infarct area as observed by suppression of c-Jun phosphorylation and Fas-L expression...

..biliary cell differentiation and gene expression of the regulatory genes for that differentiation, including Hnf1b and Hnf6...

Familial juvenile hyperuricemic nephropathy (FJHN, MIM 162000) is an autosomal-dominant disease characterized by underexcretion-type hyperuricemia, gout, and chronic renal failure...

..We conclude that BMP7 stimulates renal epithelial cell morphogenesis via p38(MAPK) and that p38(MAPK) activity is negatively regulated by Smad1...

Since 1993 we have studied 5 Spanish families with familial nephropathy associated with hyperuricemia (FJHN). Among these families, 24 patients have been identified...

..with this, reduced vps33b expression was evident in hnf6-deficient larvae and in larvae with mutation of vhnf1, a downstream target of hnf6...

..PBX2 is a transcription factor for VCP in NSCLC. Because high levels of PBX2 expression correlated with prognosis of NSCLC, PBX2 could be a target molecule for treatment of NSCLC...

..These data identify the Bcl-2 gene as a novel target of ATF-2 and CREB in growth plate chondrocytes...

..JNK may be a rational target for sensitizing tumor cells to DNA-damaging chemotherapy agents...

..3/II via CRE(-211/-199). JunB also activates aromatase promoters I.3/II by maintaining JunD expression. Targeting JunD may abolish aromatase expression selectively in breast cancer tissue...

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..Our findings suggest that these Runx2-dependent functions are mediated, at least in part, by interleukin-11...

Familial juvenile hyperuricemic nephropathy (FJHN [MIM 162000]) is an autosomal-dominant disorder characterized by abnormal tubular handling of urate and late development of chronic interstitial nephritis leading to progressive renal ..

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..Here, we identify the transcription factor vHNF1 (HNF1beta) as a crucial regulator of these early developmental events...

..Our results suggest that the phosphorylation of ATF-2 at Ser-121 plays a key role in the c-Jun-mediated activation of transcription that occurs in response to TPA...

Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder heralded by hyperuricemia during childhood; it is characterized by chronic interstitial nephritis, with marked thickening of tubular basement membranes, ..

..Our findings raise the possibility that mutations in CBFB may be responsible for some cases of cleidocranial dysplasia that are not linked to mutations in RUNX2...

..We also observed Olig2(TL)GFAP(+) cells that appeared after injury and before the NG2(+)GFAP(+) phenotype. This suggests that not all astrocytes are derived from an NG2(+) population...

..d) A proteasome inhibitor delays the down-regulation of ATF2 phophorylation after T cell activation. Taken collectively, these results implicate a role for hUBC9 and the ubiquitin/proteasome pathway in regulation of ATF2 in T cells...

..HNF-1 alpha, MODY3), insulin promoter factor-1 (IPF-1, MODY4), and hepatocyte nuclear factor-1 beta (HNF-1 beta, MODY5)...

..rectifying channel, subfamily J, member 11 gene; PPAR-gamma, peroxisome proliferator activated receptor-gamma; TCF2, transcription factor 2, hepatic; WFS1, Wolfram syndrome 1...

..We suggest that egr-1 is an immediate-early PGE2 target gene that may be a key regulatory factor in mediating eicosanoid control of genes involved in the immune and inflammatory responses...

..UMOD transcription is activated by the transcription factor HNF1B. Mutations in HNF1B cause a phenotype similar to FJHN/GCKD but also congenital anomalies of the kidney and the ..

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..To understand the molecular basis of early orthodontic tooth movement by looking at the expression of KI-67, runt-related transcription factor 2 (Runx2), and tumor necrosis factor ligand superfamily member 11 (RANKL) proteins...

..In addition, in the G6Pase catalytic subunit promoter, hepatocyte nuclear factor 1 ('HNF-1'), acts as an accessory factor to enhance the effect of insulin mediated through the IRS...

Ab initio quantum mechanics methods were applied to investigate the hydrogen bonds between CO and HNF2, H2NF, and HNO...

Heterozygous mutations in the human POU-homeobox TCF2 (vHNF1, HNF1beta) gene are associated with maturity-onset diabetes of the young, type 5, and abnormal urogenital tract development...

..We show that variant Hepatocyte Nuclear Factor 1 (vHNF1), a homeodomain-containing transcription factor first expressed in the primitive endoderm, is required for the ..

vHNF1/HNF1beta, a member of the divergent HNF1/vHNF1 homeoprotein family, is expressed in polarized epithelia of several adult organs and may participate in controlling the transcription of specific genes...

..In addition, Runx2 has the potential to regulate the transcription of extracellular matrix modulators such as SPARC and MMP1, thereby influencing the tumour microenvironment...

..Aiming at clinical application, this study was undertaken to investigate transcriptional regulation of human type X collagen by RUNX-2 in human cells...

The two members of the hepatocyte nuclear factor 1 (HNF1) transcription factor family, HNF1 and variant HNF1 (vHNF1), show a strong homology in their atypical POU-homeodomain and dimerization domain but differ in their transactivation ..

..The homeodomain protein vHnf1 (Hnf1b) directly activates Mafb expression...

..We propose that increased expression of the protein can be used to alter the gene expression profile in the cell...

Medullary cystic kidney disease 2 (MCKD2) and familial juvenile hyperuricaemic nephropathy (FJHN) are both autosomal dominant renal diseases characterised by juvenile onset of hyperuricaemia, gout, and progressive renal failure...

..Among the latter, variant HNF1 (vHNF1)/TCF2, which is expressed before HNF6 in the endoderm, was found to be critical for HNF6 expression...

..These results suggest that ATF2 is an important transcriptional factor relating to inflammation through the suppression of ATF3 in M1 macrophages of WAT...

..Uromodulin-associated kidney diseases' may be thus a more appropriate term for this syndrome...

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In neonatal diabetes mellitus resulting from mutations in EIF2AK3, PTF1A, HNF1B, PDX1 or RFX6, pancreatic aplasia or hypoplasia is typical...

..Immunohistochemical changes associated with development of cancer in Barrett's esophagus offer potential areas of intervention to prevent and manage esophageal cancer...

..A small set of transcription factors, including Tcf2, Onecut1, and Foxa2, has been identified in these pancreatic progenitor cells...

Mutations in the genes encoding transcriptional regulators HNF1beta (TCF2), HNF1alpha (TCF1), and HNF4alpha cause autosomal dominant diabetes (also known as maturity-onset diabetes of the young)...

..signals in instructing otic vesicle regionalisation, we analysed ear development in zebrafish mutants for vhnf1, a gene expressed in the caudal hindbrain during otic induction and regionalisation...

b>HNF1beta is an atypical POU transcription factor that participates in a hierarchical network of transcription factors controlling the development and proper function of vital organs such as liver, pancreas, and kidney...

To examine the clinical features of juvenile gout and its possible association with familial juvenile hyperuricemic nephropathy (FJHN).

..In this study we used hyperglycemic clamps with three different stimuli to test associations between these novel loci and various measures of beta-cell function...

..He had a history of gout, but his fasting blood glucose and glycated hemoglobin concentrations had been normal before transplantation...

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The hepatocyte nuclear factor-1beta encoded by the TCF2 gene plays a role in the specific regulation of gene expression in various tissues such as liver, kidney, intestine, and pancreatic islets and is involved in the embryonic ..

..With the use of a conditional inactivation system, we generated mice in which Hnf1b is specifically inactivated in the intestinal epithelium on a wild-type or Hnf1a(-/-) genetic background...

..These results suggest that Runx2 expression would be negatively regulated by the cystine/glutamate antiporter expressed by osteoblastic cells at the level of gene transactivation...

..of autosomal dominant inheritance, encoding for the HNF-1 beta transcription factor, is associated with monogenic Mody5 diabetes, renal structural and urogenital abnormalities, and hepatic cholestasis...

The Hnf1b transcription factor acts during formation of rhombomeres (r) 5 and 6 in the hindbrain. To determine if hnf1b is absolutely required in r5/r6, we examined the hnf1b(hi2169) and hnf1b(hi1843) retroviral insertion alleles...

..23; 95% confidence interval (95% CI, 1.12-1.35); Xp11.2, rs5945572 (OR, 1.31; 95% CI, 1.13-1.51); HNF1B, rs4430796 (OR, 1.15; 95% CI, 1.06-1.25); MSMB, rs10993994 (OR, 1.13; 95% CI, 1.04-1.23); 11q13...

..Hepatocyte nuclear factor-1beta is a useful marker to identify these clear cell carcinomas, and its overexpression may aid in stratifying survival rate...

..Precise definition of the regulation of MyHC isoforms in extraocular muscle may allow their rational manipulation, in order to alter muscle contractility for therapeutic purposes...

..been suggested that Sox9 controls expression of a network of important developmental regulators, including Tcf2/MODY5, Hnf6, and Foxa2, in pancreatic progenitor cells...

..Second, with continuing efforts to identify additional genetic variants, it may become possible to use patterns of predisposition to tailor individual management of these conditions...

..To study dynamic changes in gene expression and protein synthesis of runt-related transcription factor-2 (Runx2), Osterix and AJ18 in the femoral head of steroid-induced osteonecrosis in rats...

..Hara, M., Furuta, H., Hinokio, Y., Cockburn, B.N. et al., 1997. Mutation in hepatocyte nuclear factor-1beta gene (TCF2) associated with MODY. Nat. Genet. 17, 384-385]...

Genome-wide association studies have found type 2 diabetes-associated variants in the HNF1B gene to exhibit reciprocal associations with prostate cancer risk...

Mutations in the hepatocyte nuclear factor (HNF)-1 beta lead to type 5 maturity-onset diabetes of the young (MODY5). HNF-1 beta forms a homodimer or a heterodimer with HNF-1 alpha and regulates various target genes...

..Compared with normal thyroids, transcripts were more abundant in 24% of thyroid lesions tested by ISH. In conclusion, we report for the first time on TTF-2 gene expression in normal and diseased adult human thyroids...

..We performed genetic analysis of the TITF2 gene (encoding TTF-2) in patients with thyroid dysgenesis...

The homeobox-containing gene variant hepatocyte nuclear factor-1 (vHnf1) has recently been shown to be involved in zebrafish caudal hindbrain specification, notably in the activation of MafB and Kro x 20 expression...

The homeoproteins HNF1 (LFB1/HNF1-A) and vHNF1 (LFB3/HNF1 beta) interact with an essential control element of a group of liver-specific genes...

..the roles of two additional candidate RA-targets previously implicated in early pancreas development: the Hb9 and Tcf2 transcription factors...

..Data obtained will yield useful information for a better understanding of corneal diseases at molecular and cellular levels in vivo and serve as basis for designing treatment regiments for corneal wound healing. ..

..Data obtained will yield useful information for a better understanding of corneal diseases at molecular and cellular levels in vivo and serve as basis for designing treatment regiments for corneal wound healing. ..

..A better understanding of how and why Nell-1 works to form bone can accelerate the development of clinical therapies to help patients grow better and faster bone. ..

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..Successful completion of the experiments described in the Specific Aims will provide the basis for developing effective drug or gene therapy protocols for Sickle cell disease and Cooley's anemia. ..

..Furthermore, we showed that deletion of Hhex is associated with decreased expression of Hnf4a, Hnf1b (TCF2) and Onecut1 (Hnf6), suggesting that Hhex regulates, either directly or indirectly, the expression of these ..

..Furthermore, we showed that deletion of Hhex is associated with decreased expression of Hnf4a, Hnf1b (TCF2) and Onecut1 (Hnf6), suggesting that Hhex regulates, either directly or indirectly, the expression of these ..

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..Humans with mutations of HNF-13 develop maturity-onset diabetes of the young type 5 (MODY5) and congenital cystic abnormalities of the kidney...

..Humans with mutations of HNF-13 develop maturity-onset diabetes of the young type 5 (MODY5) and congenital cystic abnormalities of the kidney...

..Completion of the project may offer a new therapeutic approach for large artery stiffening and related cardiovascular disorders. The finding will benefit the US population which has a high prevalence of cardiovascular disease. ..

..is of particular concern for the diagnosis of diseases commonly associated with large deletions in a gene, such as MODY5 (Bellanne-Chantelot, 2005)...

..g. hoxb1a) and r5/r6 (e.g. val, vhnf1), but it is unclear how these genes act and it is likely that additional hoxb1b target genes exist...

..will not only provide information to guide the correct and efficient use of regular exercise training for preventing and treating the diseases, but also facilitate discovery of new therapeutic drugs to combat the diseases ..

..g. hnf1b, hnf6, tgfb)...

..These include congenital cardiovascular abnormalities and pathological conditions such as rheumatoid arthritis, retinopathies, hemangiomas, psoriasis, solid tumors and metastases. ..

..k.a Hnfl1beta), which is mutated in MODY5 and has recently been implicated in early pancreas development, binds Meis3 and Pbx4 and we will therefore explore ..

..The work is basic research in the neuronal control of movements. The establishment of the principles underlying the normal production of movements provides a foundation for understanding the disruptions that occur in disease states. ..

..Furthermore, this information will be crucial as a theoretical framework for future studies on the role of zinc finger transcription factors in pancreatic development and cancer. ..

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..Cellular components that are found to be modulated in MeWo-AFT2dn cells will be further evaluated for their inherent ability to alter radiation resistance and metastatic potential. ..

..The second aim of my study will test whether tcf2 and hb9 are downstream targets of retinoic acid in specifying beta-cells...

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