Genomes and Genes
Gene Symbol: HNF1B
Description: HNF1 homeobox B
Alias: FJHN, HNF-1-beta, HNF-1B, HNF1beta, HNF2, HPC11, LF-B3, LFB3, MODY5, TCF-2, TCF2, VHNF1, HNF1 beta A, hepatocyte nuclear factor 1-beta, homeoprotein LFB3, transcription factor 2, hepatic
Publications189 found, 100 shown here
- Enlarged nephrons and severe nondiabetic nephropathy in hepatocyte nuclear factor-1beta (HNF-1beta) mutation carriersJørn V Sagen
Department of Pediatrics, Center for Genetics and Molecular Medicine, University of Bergen, Haukeland University Hospital, Bergen, Norway
Kidney Int 64:793-800. 2003..lead to a syndrome with diabetes and urogenital malformations [maturity onset of diabetes of the young, type 5 (MODY5)]...
- Spatial and temporal expression of the myometrial mitogen-activated protein kinases p38 and ERK1/2 in the human uterus during pregnancy and laborHarry A Otun
School of Surgical and Reproductive Sciences, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
J Soc Gynecol Investig 12:185-90. 2005....
- Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41Katerina Hodanova
Center for Applied Genomics, Institute for Inherited Metabolic Disorders, Charles University 1st School of Medicine, Prague, Czech Republic
Kidney Int 68:1472-82. 2005..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...
- Multiple newly identified loci associated with prostate cancer susceptibilityRosalind A Eeles
The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK
Nat Genet 40:316-21. 2008..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...
- Expression profiling in ovarian clear cell carcinoma: identification of hepatocyte nuclear factor-1 beta as a molecular marker and a possible molecular target for therapy of ovarian clear cell carcinomaAkira Tsuchiya
Pathology Division, National Cancer Center Research Institute, Tokyo, Japan
Am J Pathol 163:2503-12. 2003..Our results suggest that HNF-1 beta is not only an excellent CCC-specific molecular marker but also a molecular target for therapy of ovarian CCC...
- Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studiesKatherine S Elliott
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
PLoS ONE 5:e10858. 2010Genome-wide association studies have found type 2 diabetes-associated variants in the HNF1B gene to exhibit reciprocal associations with prostate cancer risk...
- Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal diseaseEmma L Edghill
1Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
Nephrol Dial Transplant 23:627-35. 2008..HNF-1beta gene deletions have recently been shown to cause renal malformations and early-onset diabetes...
- Gene expression profiling predicts clinical outcome of prostate cancerGennadi V Glinsky
Sidney Kimmel Cancer Center, San Diego, California 92121, USA
J Clin Invest 113:913-23. 2004....
- Transcription factor HNF1beta and novel partners affect nephrogenesisKarin Dudziak
Institut für Zellbiologie Tumorforschung, Universitatsklinikum Essen, Universitat Duisburg Essen, Essen, Germany
Kidney Int 74:210-7. 2008..Because of these renal anomalies, HNF1beta is classified as a CAKUT (congenital anomalies of the kidney and urinary tract) gene...
- Genome-wide association study identifies a common variant associated with risk of endometrial cancerAmanda B Spurdle
Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
Nat Genet 43:451-4. 2011..We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12 (rs4430796, P = 7...
- HNF1B mutations associate with hypomagnesemia and renal magnesium wastingShazia Adalat
Nephrology Unit, Great Ormond Street Hospital NHS Trust, London WCIN 3JH, UK
J Am Soc Nephrol 20:1123-31. 2009Mutations in hepatocyte nuclear factor 1B (HNF1B), which is a transcription factor expressed in tissues including renal epithelia, associate with abnormal renal development...
- Hepatocyte nuclear factor 1 is essential for transcription of sodium-dependent vitamin C transporter protein 1Alexander J Michels
Linus Pauling Institute and the Department of Biochemistry and Biophysics, Oregon State University, Corvallis, Oregon 97331, USA
Am J Physiol Cell Physiol 297:C1220-7. 2009..Together, these data suggest that HNF-1alpha and/or HNF-1beta binding is required for SVCT1 expression and may be involved in the coordinate regulation of whole body vitamin C status...
- Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvementAlberto Montoli
Renal Unit, Niguarda Ca Granda Hospital, Milan, Italy
Am J Kidney Dis 40:397-402. 2002Mutations 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.
- Regulation of tissue-specific expression of renal organic anion transporters by hepatocyte nuclear factor 1 α/β and DNA methylationLi Jin
Laboratory of Molecular Pharmacokinetics, Graduate School of Pharmaceutical Sciences, University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 0033, Japan
J Pharmacol Exp Ther 340:648-55. 2012....
- Hepatocyte nuclear factor-1β expression in clear cell adenocarcinomas of the bladder and urethra: diagnostic utility and implications for histogenesisFadi Brimo
Department of Pathology, Johns Hopkins Hospital Medical Institutions, Baltimore, MD 21287, USA
Hum Pathol 42:1613-9. 2011....
- Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic developmentE L Edghill
Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
Diabet Med 23:1301-6. 2006..We aimed to investigate the role of HNF-1beta mutations in neonatal diabetes and also the impact of HNF-1beta mutations on fetal growth...
- Evidence for two independent prostate cancer risk-associated loci in the HNF1B gene at 17q12Jielin Sun
Center for Cancer Genomics, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
Nat Genet 40:1153-5. 2008We 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 ..
- Association analysis of type 2 diabetes Loci in type 1 diabetesHui Qi Qu
Departments of Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada
Diabetes 57:1983-6. 2008To search for a possible association of type 1 diabetes with 10 validated type 2 diabetes loci, i.e., PPARG, KCNJ11, WFS1, HNF1B, IDE/HHEX, SLC30A8, CDKAL1, CDKN2A/B, IGF2BP2, and FTO/RPGRIP1L.
- Common variants of hepatocyte nuclear factor 1beta are associated with type 2 diabetes in a Chinese populationCongrong Wang
Department of Endocrinology and Metabolism, Shanghai Jiao Tong University Affiliated Sixth People s Hospital, Shanghai Diabetes Institute, Shanghai Clinical Center for Diabetes, Shanghai, China
Diabetes 58:1023-7. 2009Hepatocyte nuclear factor 1beta (HNF1beta) is a transcription factor that is critical for pancreatic cell formation and glucose homeostasis...
- Cell-specific involvement of HNF-1beta in alpha(1)-antitrypsin gene expression in human respiratory epithelial cellsChaobin Hu
Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri 63110, USA
Am J Physiol Lung Cell Mol Physiol 282:L757-65. 2002..These results indicate the unique involvement of HNF-1beta in alpha(1)-AT gene expression in a cell line and primary cultures derived from human respiratory epithelium...
- Regulation of HSulf-1 expression by variant hepatic nuclear factor 1 in ovarian cancerPeng Liu
Departments of Experimental Pathology, University of British Columbia, Vancouver, British Columbia, Canada
Cancer Res 69:4843-50. 2009..Here, we show that variant hepatic nuclear factor 1 (vHNF1), encoded by transcription factor 2 gene (TCF2, HNF1beta), negatively regulates HSulf-1 expression in ovarian cancer...
- Multiple loci identified in a genome-wide association study of prostate cancerGilles Thomas
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892, USA
Nat Genet 40:310-5. 2008..the combined joint analysis, we confirmed three previously reported loci (two independent SNPs at 8q24 and one in HNF1B (formerly known as TCF2 on 17q); P < 10(-10))...
- Clinical spectrum associated with hepatocyte nuclear factor-1beta mutationsChristine Bellanne-Chantelot
Fédération des Services de Biochimie, Laboratoire de Biologie Moleculaire, Hopital Saint Antoine, Paris, France
Ann Intern Med 140:510-7. 2004Maturity-onset diabetes of the young type 5 (MODY5), a type of dominantly inherited diabetes mellitus and nephropathy, has been associated with mutations of the hepatocyte nuclear factor-1beta (HNF-1beta) gene, mostly generating ..
- Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutationsEwan R Pearson
Diabetes and Vascular Medicine, Peninsula Medical School, Exeter, UK
Diabetes Care 27:1102-7. 2004..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...
- Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetesWendy Winckler
Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
Diabetes 56:685-93. 2007..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 ..
- Common variants in maturity-onset diabetes of the young genes and future risk of type 2 diabetesJohan Holmkvist
Department of Clinical Sciences Diabetes and Endocrinology, CRC, Malmö University Hospital MAS, Lund University, Malmo, Sweden
Diabetes 57:1738-44. 2008....
- HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitroD B Mendel
Beckman Center for Molecular and Genetic Medicine, Howard Hughes Medical Institute, Stanford University Medical School, California 94305
Genes Dev 5:1042-56. 1991..These studies define a pair of homeo domain proteins that have the potential to interact to produce an embryologically complex pattern of gene expression...
- More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processingI Bach
Unite des Virus Oncogenes, UA 1644 du CNRS, Departement des Biotechnologies, Institut Pasteur, Paris, France
EMBO J 12:4229-42. 1993..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...
- Scanning for MODY5 gene mutations in Chinese early onset or multiple affected diabetes pedigreesC Wang
Department of Endocrinology and Metabolism, Shanghai Diabetes Institute, Shanghai No 6 People s Hospital, Shanghai Jiao Tong University, 600 Yishan Road, Shanghai 200233, China
Acta Diabetol 41:137-45. 2004..of HNF-1beta gene has been reported in early onset diabetes or MODY families and this gene has been defined as MODY5 gene...
- Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODYY Horikawa
Nat Genet 17:384-5. 1997
- Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetesJulius Gudmundsson
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 39:977-83. 2007..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...
- Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 betaC Bingham
Department of Vascular Medicine and Diabetes Research, School of Postgraduate Medicine and Health Sciences, University of Exeter, England, United Kingdom
Kidney Int 57:898-907. 2000..HNF-1 beta gene mutations are associated with a unique disorder characterized by maturity-onset diabetes of the young (MODY) and early-onset and progressive nondiabetic renal dysfunction, which may lead to chronic renal failure...
- pp60(v-src) induction of cyclin D1 requires collaborative interactions between the extracellular signal-regulated kinase, p38, and Jun kinase pathways. A role for cAMP response element-binding protein and activating transcription factor-2 in pp60(v-src) sR J Lee
Departments of Developmental and Molecular Biology and Medicine, Albert Einstein Cancer Center, Albert Einstein College of Medicine, Bronx, New York 10461, USA
J Biol Chem 274:7341-50. 1999..Induction of cyclin D1 activity by pp60(v-src) may contribute to breast tumorigenesis through phosphorylation and inactivation of the retinoblastoma protein...
- Evolutionary significance of intra-genome duplications on human chromosomesT Endo
Center for Information Biology, National Institute of Genetics, Mishima, Shizuoka, Japan
Gene 205:19-27. 1997..We also propose that a comparative mapping of paralogous genes within the human genome would be useful for identifying new genes...
- p38 MAPK-mediated transcriptional activation of inducible nitric-oxide synthase in glial cells. Roles of nuclear factors, nuclear factor kappa B, cAMP response element-binding protein, CCAAT/enhancer-binding protein-beta, and activating transcription factNarayan R Bhat
Department of Neurology, Medical University of South Carolina, Charleston, South Carolina 29425, USA
J Biol Chem 277:29584-92. 2002....
- [Effects of Qishe Pill on vertebral hyperostosis induced by upright posture in rats]Qin Bian
Institute of Spine, Longhua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai 200032, China
Zhong Xi Yi Jie He Xue Bao 8:173-80. 2010..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...
- High glucose stimulates angiotensinogen gene expression and cell hypertrophy via activation of the hexosamine biosynthesis pathway in rat kidney proximal tubular cellsTusty Jiuan Hsieh
Université de Montréal Centre hospitalier de l Université de Montréal Hôtel Dieu, Centre de Recherche Pavillon Masson, Montreal, Quebec, Canada H2W 1T8
Endocrinology 144:4338-49. 2003..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...
- Changes in expression of p38 mitogen-activated protein kinase in the dorsal motor nucleus of the vagus nerve and hypoglossal nucleus after axotomy in adult ratsTatsuo Shimokawara
Department of Pathology, Nara Medical University, Kashihara, Japan
Neuropathology 22:261-8. 2002..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...
- Human transcription release factor 2 dissociates RNA polymerases I and II stalled at a cyclobutane thymine dimerR Hara
Department of Biochemistry and Biophysics, University of North Carolina School of Medicine, Chapel Hill, North Carolina 27599, USA
J Biol Chem 274:24779-86. 1999....
- Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney diseaseFrancesco Scolari
Division and Chair of Nephrology, Spedali Civili, Brescia, Italy
J Nephrol 16:321-8. 2003..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 ..
- General transcription factor IIA-gamma increases osteoblast-specific osteocalcin gene expression via activating transcription factor 4 and runt-related transcription factor 2Shibing Yu
Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15240, USA
J Biol Chem 283:5542-53. 2008..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...
- The osteoinductive properties of Nell-1 in a rat spinal fusion modelSteven S Lu
Dental and Craniofacial Research Institutes, UCLA School of Dentistry, Los Angeles, CA 90095, USA
Spine J 7:50-60. 2007..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...
- Role of JNK/ATF-2 pathway in inhibition of thrombospondin-1 (TSP-1) expression and apoptosis mediated by doxorubicin and camptothecin in FTC-133 cellsHassan El Btaouri
Laboratoire SiRMa Signalisation Cellulaire et Récepteurs Matriciels, UMR CNRS 6237, UFR Sciences, Reims, France
Biochim Biophys Acta 1813:695-703. 2011..This article is part of a Special Issue entitled: 11th European Symposium on Calcium...
- Differential expression of activating transcription factor-2 and c-Jun in the immature and adult rat hippocampus following lithium-pilocarpine induced status epilepticusSi Ryung Han
Department of Neurology, The Catholic University of Korea, Seoul, Korea
Yonsei Med J 50:200-5. 2009..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...
- Response of human alveolar bone-derived cells to a novel poly(vinylidene fluoride-trifluoroethylene)/barium titanate membraneL N Teixeira
Department of Morphology, Stomatology and Physiology, School of Dentistry of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, SP, Brazil
J Mater Sci Mater Med 22:151-8. 2011..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...
- Modification of DNA topoisomerase II activity via direct interactions with the cyclic adenosine-3',5'-monophosphate response element-binding protein and related transcription factorsD J Kroll
Division of Medical Oncology, University of Colorado Health Sciences Center, Denver 80262
Mol Endocrinol 7:305-18. 1993....
- The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effectM T F Wolf
Department of Pediatric Nephrology of the University Children s Hospital, University of Cologne, Cologne, Germany
Kidney Int 71:574-81. 2007..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...
- Molecular characterization of Helicobacter pylori VacA induction of IL-8 in U937 cells reveals a prominent role for p38MAPK in activating transcription factor-2, cAMP response element binding protein, and NF-kappaB activationJunzo Hisatsune
Department of Bacteriology, Institute of Tropical Medicine, Nagasaki University, Nagasaki, Japan
J Immunol 180:5017-27. 2008..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...
- Role of nutritional zinc in the prevention of osteoporosisMasayoshi Yamaguchi
Division of Endocrinology, Metabolism and Lipids, Department of Medicine, Emory University School of Medicine, Atlanta, GA 30322 0001, USA
Mol Cell Biochem 338:241-54. 2010..Zinc compounds may be designed as new supplementation factor in the prevention and therapy of osteoporosis...
- Polyamines regulate the stability of activating transcription factor-2 mRNA through RNA-binding protein HuR in intestinal epithelial cellsLan Xiao
Department of Surgery, University of Maryland School of Medicine, Baltimore, MD 21201, USA
Mol Biol Cell 18:4579-90. 2007..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...
- Changes in peptidyl-prolyl cis/trans isomerase activity and FK506 binding protein expression following neuroprotection by FK506 in the ischemic rat brainS Brecht
Institute of Pharmacology, University Hospital of Schleswig Holstein, Campus Kiel, Hospitalstrasse 4, 24105, Kiel, Germany
Neuroscience 120:1037-48. 2003..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...
- p38MAPK acts in the BMP7-dependent stimulatory pathway during epithelial cell morphogenesis and is regulated by Smad1Ming Chang Hu
Division of Nephrology, Program in Developmental Biology, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
J Biol Chem 279:12051-9. 2004..We conclude that BMP7 stimulates renal epithelial cell morphogenesis via p38(MAPK) and that p38(MAPK) activity is negatively regulated by Smad1...
- Suppression of C/EBPalpha expression in periportal hepatoblasts may stimulate biliary cell differentiation through increased Hnf6 and Hnf1b expressionHarufumi Yamasaki
Department of Biology, Faculty of Science, Shizuoka University, 836 Oya, Surugaku, Shizuoka City, Shizuoka 422 8529, Japan
Development 133:4233-43. 2006..biliary cell differentiation and gene expression of the regulatory genes for that differentiation, including Hnf1b and Hnf6...
- Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large familyN Kamatani
Institute of Rheumatology, Tokyo Women s Medical University, Japan
Arthritis Rheum 43:925-9. 2000Familial juvenile hyperuricemic nephropathy (FJHN, MIM 162000) is an autosomal-dominant disease characterized by underexcretion-type hyperuricemia, gout, and chronic renal failure...
- The activation of c-Jun NH2-terminal kinase (JNK) by DNA-damaging agents serves to promote drug resistance via activating transcription factor 2 (ATF2)-dependent enhanced DNA repairJun Hayakawa
Department of Cancer Gene Therapy, Sidney Kimmel Cancer Center, San Diego, California 92121, USA
J Biol Chem 278:20582-92. 2003..JNK may be a rational target for sensitizing tumor cells to DNA-damaging chemotherapy agents...
- Prognostic significance of pre B cell leukemia transcription factor 2 (PBX2) expression in non-small cell lung carcinomaYing Qiu
Department of Pathology, Tongji University School of Medicine, Shanghai 200092, China
Cancer Sci 100:1198-209. 2009..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...
- Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6Randolph P Matthews
Division of Gastroenterology and Nutrition, The Children s Hospital of Philadelphia and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Development 132:5295-306. 2005..with this, reduced vps33b expression was evident in hnf6-deficient larvae and in larvae with mutation of vhnf1, a downstream target of hnf6...
- JunD and JunB integrate prostaglandin E2 activation of breast cancer-associated proximal aromatase promotersDong Chen
Division of Reproductive Biology Research, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611, USA
Mol Endocrinol 25:767-75. 2011..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...
- Activating transcription factor 2 controls Bcl-2 promoter activity in growth plate chondrocytesQin Ma
Department of Anatomy and Cell Biology, College of Medicine, University of Florida, Gainesville, FL 32610 0235, USA
J Cell Biochem 101:477-87. 2007..These data identify the Bcl-2 gene as a novel target of ATF-2 and CREB in growth plate chondrocytes...
- Familial nephropathy associated with hyperuricemia in Spain: our experience with 3 families harbouring a UMOD mutationJ G Puig
Division of Internal Medicine, Hospital Universitario La Paz, Madrid, Spain
Nucleosides Nucleotides Nucleic Acids 25:1295-300. 2006Since 1993 we have studied 5 Spanish families with familial nephropathy associated with hyperuricemia (FJHN). Among these families, 24 patients have been identified...
- High glucose alters the expression of genes involved in proliferation and cell-fate specification of embryonic neural stem cellsJ Fu
Molecular Neurobiology Laboratory, Department of Anatomy, Yong Loo Lin School of Medicine, National University of Singapore, Singapore
Diabetologia 49:1027-38. 2006....
- Cbfbeta interacts with Runx2 and has a critical role in bone developmentMondira Kundu
Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Building 49, Room 3A26, Bethesda, Maryland 20892, USA
Nat Genet 32:639-44. 2002..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...
- Runx2 deficiency in chondrocytes causes adipogenic changes in vitroHirayuki Enomoto
Department of Molecular Medicine, Osaka University Graduate School of Medicine, Suita, Osaka 565 0871, Japan
J Cell Sci 117:417-25. 2004..Our findings suggest that these Runx2-dependent functions are mediated, at least in part, by interleukin-11...
- Phosphorylation of Activation Transcription Factor-2 at Serine 121 by Protein Kinase C Controls c-Jun-mediated Activation of TranscriptionTakahito Yamasaki
Gene Engineering Division, RIKEN BioResource Center, 3 1 1 Koyadai, Tsukuba, Ibaraki 305 0074
J Biol Chem 284:8567-81. 2009..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...
- Structure-activity relationships and X-ray structures describing the selectivity of aminopyrazole inhibitors for c-Jun N-terminal kinase 3 (JNK3) over p38Ted Kamenecka
Department of Molecular Therapeutics and Translational Research Institute, The Scripps Research Institute, Jupiter, FL 33458, USA
J Biol Chem 284:12853-61. 2009....
- Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease?K Dahan
Center for Human Genetics, Catholic University of Louvain, Brussels, Belgium
J Am Soc Nephrol 12:2348-57. 2001Familial 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, ..
- A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulinKarin Dahan
Universite Catholique de Louvain, Center for Human Genetics, Brussels, Belgium
J Am Soc Nephrol 14:2883-93. 2003Familial 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 ..
- vHNF1 functions in distinct regulatory circuits to control ureteric bud branching and early nephrogenesisLudmilla Lokmane
UMR7622 CNRS Université Pierre et Marie Curie, 9 quai St Bernard Bat C, 75005 Paris, France
Development 137:347-57. 2010..Here, we identify the transcription factor vHNF1 (HNF1beta) as a crucial regulator of these early developmental events...
- Monogenic diabetes mellitus in youth. The MODY syndromesW E Winter
Department of Pathology, Immunology, University of Florida College of Medicine, Gainesville, USA
Endocrinol Metab Clin North Am 28:765-85. 1999..HNF-1 alpha, MODY3), insulin promoter factor-1 (IPF-1, MODY4), and hepatocyte nuclear factor-1 beta (HNF-1 beta, MODY5)...
- Dissecting the nutrigenomics, diabetes, and gastrointestinal disease interface: from risk assessment to health interventionLynnette R Ferguson
The University of Auckland, Auckland, New Zealand
OMICS 12:237-44. 2008..rectifying channel, subfamily J, member 11 gene; PPAR-gamma, peroxisome proliferator activated receptor-gamma; TCF2, transcription factor 2, hepatic; WFS1, Wolfram syndrome 1...
- Sustained increases in activating transcription factor-2 and activator protein-2 in the rat supraoptic nucleus during water deprivationRick B Meeker
Department of Neurology, University of North Carolina, Chapel Hill, 27599, USA
Neuroendocrinology 76:111-20. 2002....
- Astrocytes and oligodendrocytes can be generated from NG2+ progenitors after acute brain injury: intracellular localization of oligodendrocyte transcription factor 2 is associated with their fate choiceJing Wei Zhao
Department of Clinical Neurosciences, Cambridge Centre for Brain Repair, University of Cambridge, Cambridge, UK
Eur J Neurosci 29:1853-69. 2009..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...
- Early growth response factor-1 mediates prostaglandin E2-dependent transcriptional suppression of cytokine-induced tumor necrosis factor-alpha gene expression in human macrophages and rheumatoid arthritis-affected synovial fibroblastsWissam H Faour
Department of Medicine, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada
J Biol Chem 280:9536-46. 2005..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...
- Association of activating transcription factor 2 (ATF2) with the ubiquitin-conjugating enzyme hUBC9. Implication of the ubiquitin/proteasome pathway in regulation of ATF2 in T cellsR Firestein
Center for Gerontology, Allegheny University of the Health Sciences and the Division of Rheumatology, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
J Biol Chem 273:5892-902. 1998..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...
- Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT)Matthias T F Wolf
Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA
Pediatr Nephrol 24:55-60. 2009..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 ..
- Molecular markers of early orthodontic tooth movementPatricia Joyce Brooks
Orthodontic Department, Faculty of Dentistry, University of Toronto, Toronto, Canada
Angle Orthod 79:1108-13. 2009..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...
- Insulin-regulated gene expressionR M O'Brien
Department of Molecular Physiology and Biophysics, 761 MRB II, Vanderbilt University Medical School, Nashville, TN 37232, USA
Biochem Soc Trans 29:552-8. 2001..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...
- Lack of TCF2/vHNF1 in mice leads to pancreas agenesisC Haumaitre
Biologie du Développement, Unité Mixte de Recherche 7622, Centre National de la Recherche Scientifique, Universite Pierre et Marie Curie, 9 quai St Bernard Bat C, 75005 Paris, France
Proc Natl Acad Sci U S A 102:1490-5. 2005Heterozygous 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...
- Theoretical investigation of hydrogen bonds between CO and HNF2, H2NF, and HNOAn Yong Li
School of Chemistry and Chemical Engineering, Southwestern University, 400715, Chongqing, P R China
J Phys Chem A 110:10805-16. 2006Ab initio quantum mechanics methods were applied to investigate the hydrogen bonds between CO and HNF2, H2NF, and HNO...
- Variant hepatocyte nuclear factor 1 is required for visceral endoderm specificationE Barbacci
U423 INSERM, Hopital Necker Enfants Malades, France U257 INSERM, ICGM, France
Development 126:4795-805. 1999..We show that variant Hepatocyte Nuclear Factor 1 (vHNF1), a homeodomain-containing transcription factor first expressed in the primitive endoderm, is required for the ..
- Identification of the core element responsive to runt-related transcription factor 2 in the promoter of human type X collagen geneAkiro Higashikawa
Sensory and Motor System Medicine, Faculty of Medicine, University of Tokyo, Tokyo, Japan
Arthritis Rheum 60:166-78. 2009..Aiming at clinical application, this study was undertaken to investigate transcriptional regulation of human type X collagen by RUNX-2 in human cells...
- Regulation and functional role of the Runt-related transcription factor-2 in pancreatic cancerH Kayed
Department of General Surgery, University of Heidelberg, Heidelberg, Germany
Br J Cancer 97:1106-15. 2007..In addition, Runx2 has the potential to regulate the transcription of extracellular matrix modulators such as SPARC and MMP1, thereby influencing the tumour microenvironment...
- Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differentiationC Coffinier
Unite des Virus Oncogenes, CNRS URA 1644, and Unité de Biologie du Développement, CNRS URA 1960, Institut Pasteur, F 75724 Paris Cedex 15, France
Development 126:4785-94. 1999vHNF1/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...
- Biliverdin reductase, a novel regulator for induction of activating transcription factor-2 and heme oxygenase-1Anatoliy Kravets
Department of Biochemistry and Biophysics, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, NY 14642, USA
J Biol Chem 279:19916-23. 2004..We propose that increased expression of the protein can be used to alter the gene expression profile in the cell...
- Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathyT C Hart
University of Pittsburgh, School of Dental Medicine, Division of Oral Biology, University of Pittsburgh, Pittsburgh, PA 15261, USA
J Med Genet 39:882-92. 2002Medullary 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...
- Cdx1 refines positional identity of the vertebrate hindbrain by directly repressing Mafb expressionKendra Sturgeon
Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 600 University Avenue, Toronto, ON M5G 1X5, Canada
Development 138:65-74. 2011..The homeodomain protein vHnf1 (Hnf1b) directly activates Mafb expression...
- A vHNF1/TCF2-HNF6 cascade regulates the transcription factor network that controls generation of pancreatic precursor cellsAurélie V Poll
Hormone and Metabolic Research Unit, Université catholique de Louvain and Institute of Cellular Pathology, Avenue Hippocrate 75 7529, B 1200 Brussels, Belgium
Diabetes 55:61-9. 2006..Among the latter, variant HNF1 (vHNF1)/TCF2, which is expressed before HNF6 in the endoderm, was found to be critical for HNF6 expression...
- Functions of HNF1 family members in differentiation of the visceral endoderm cell lineageCécile Haumaitre
Unité 423 INSERM, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
J Biol Chem 278:40933-42. 2003The 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 unfolded protein response and the phosphorylations of activating transcription factor 2 in the trans-activation of il23a promoter produced by β-glucansMario Rodriguez
From the Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Universidad de Valladolid, 47005 Valladolid
J Biol Chem 289:22942-57. 2014....
- Uromodulin storage diseases: clinical aspects and mechanismsFrancesco Scolari
Divisione di Nefrologia, Spedali Civili, Brescia, Italy
Am J Kidney Dis 44:987-99. 2004..in patients with medullary cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy (FJHN), and glomerulocystic kidney disease (GCKD) provides the opportunity for a revision of pathogenic aspects and puts ..
- Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancerHui Shen
USC Epigenome Center, Keck School of Medicine, University of Southern California, Norris Comprehensive Cancer Center, Los Angeles, California 90033, USA
Nat Commun 4:1628. 2013b>HNF1B is overexpressed in clear cell epithelial ovarian cancer, and we observed epigenetic silencing in serous epithelial ovarian cancer, leading us to hypothesize that variation in this gene differentially associates with epithelial ..
- Association of type 2 diabetes susceptibility variants with advanced prostate cancer risk in the Breast and Prostate Cancer Cohort ConsortiumMitchell J Machiela
Program in Molecular and Genetic Epidemiology, Department of Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA
Am J Epidemiol 176:1121-9. 2012..Ten T2D markers near 9 loci (NOTCH2, ADCY5, JAZF1, CDKN2A/B, TCF7L2, KCNQ1, MTNR1B, FTO, and HNF1B) were nominally associated with PCa (P < 0...
- Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndromeP Vylet'al
Center for Applied Genomics, Charles University 1st School of Medicine, Prague, Czech Republic
Kidney Int 70:1155-69. 2006..Uromodulin-associated kidney diseases' may be thus a more appropriate term for this syndrome...
- Expression of activating transcription factor 2 in inflammatory macrophages in obese adipose tissueYugo Miyata
Obesity (Silver Spring) . 2012..These results suggest that ATF2 is an important transcriptional factor relating to inflammation through the suppression of ATF3 in M1 macrophages of WAT...
- Critical role of N-terminal end-localized nuclear export signal in regulation of activating transcription factor 2 (ATF2) subcellular localization and transcriptional activityChih Chao Hsu
Department of Medicinal Chemistry and Molecular Pharmacology and the Purdue University Center for Cancer Research, Purdue University, West Lafayette, Indiana 47907, USA
J Biol Chem 287:8621-32. 2012....
- The role of pancreatic imaging in monogenic diabetes mellitusIngfrid S Haldorsen
Department of Radiology, Haukeland University Hospital, N 5021 Bergen, Norway
Nat Rev Endocrinol 8:148-59. 2012In neonatal diabetes mellitus resulting from mutations in EIF2AK3, PTF1A, HNF1B, PDX1 or RFX6, pancreatic aplasia or hypoplasia is typical...
- Runt-related transcription factor 2 in human colon carcinoma: a potent prognostic factor associated with estrogen receptorTomohiko Sase
Department of Surgery, Tohoku University Graduate School of Medicine, Sendai, Japan
Int J Cancer 131:2284-93. 2012....
- hnf1b genes in zebrafish hindbrain developmentSeong Kyu Choe
Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, Massachusetts 01605 2324, USA
Zebrafish 5:179-87. 2008The 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...
- Hepatocyte nuclear factor 1alpha and beta control terminal differentiation and cell fate commitment in the gut epitheliumAnna D'Angelo
Expression Génique, Développement et Maladies Equipe 26 INSERM U567 CNRS UMR 8104 Université Paris Descartes Institut Cochin Dpt Génétique et Développement, 75014 Paris, France
Development 137:1573-82. 2010..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...
- A set of polyclonal and monoclonal antibodies reveals major differences in post-translational modification of the rat HNF1 and vHNF1 homeoproteinsT Chouard
URA 1644 du CNRS, Departement des Biotechnologies, Paris, France
Biochimie 79:707-15. 1997The related homeodomain-containing transcription factors HNF1 (HNF1 alpha) and vHNF1 (HNF1 beta) recognise common target DNA sequences in the regulatory regions of many genes and are expressed in several parenchymal cell types, ..
- vHnf1 regulates specification of caudal rhombomere identity in the chick hindbrainFerran Aragon
Developmental Biology Group, Departament de Ciencies Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain
Dev Dyn 234:567-76. 2005The 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 PKCepsilon-regulated oncogenic and tumor suppressor roles of ATF2 in melanomaERIC KIRK LAU; Fiscal Year: 2013..abstract_text> ..
- Molecular Mechanism of Arterial StiffeningZhongjie Sun; Fiscal Year: 2013..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. ..
- Nell-1, A Cbfa 1 Downstream Target, In Bone FormationKang Ting; Fiscal Year: 2009..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. ..
- Novel Mechanism of PTH Effects on Bone MetabolismBin Wang; Fiscal Year: 2013....
- Roles of Growth Factors on Corneal MorphogenesisWinston W Kao; Fiscal Year: 2013..These experiments will yield useful information for restoration of normal vision by intervening TBR2 and ATF2 signaling pathways of injured corneas. ..
- Regionalization of the Vertebrate EndodermVictoria E Prince; Fiscal Year: 2013..the roles of two additional candidate RA-targets previously implicated in early pancreas development: the Hb9 and Tcf2 transcription factors...
- Hhex-a Homeobox Gene Necessary for Liver DevelopmentClifford W Bogue; Fiscal Year: 2010..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 ..
- Regulation of the P.aeruginosa Type III Secretion System by the Multifaceted TranFlorian David Schubot; Fiscal Year: 2013..Lastly, we will determine the crystal structure of the regulatory domain of ExsA. This will be the first structure reported for this type of domain and may offer intriguing new insights into its functiona role. ..
- Mechanisms of Bile Duct MorphogenesisBen Z Stanger; Fiscal Year: 2013..g. hnf1b, hnf6, tgfb)...
- REGULATION AND FUNCTION OF HEAT SHOCK FACTORS IN TESTISKEVIN SARGE; Fiscal Year: 1999..This information will provide a framework for exploring disease processes which affect spermatogenesis, and for development of new male contraceptives. ..
- Heat shock proteins and alcohol induced liver injuryPranoti Mandrekar; Fiscal Year: 2006....
- REGULATION OF KIDNEY-SPECIFIC GENE EXPRESSIONPeter Igarashi; Fiscal Year: 2010..Humans with mutations of HNF-13 develop maturity-onset diabetes of the young type 5 (MODY5) and congenital cystic abnormalities of the kidney...
- Variant detection and variant analysis process for diagnosis of CH and MODYDavid Margulies; Fiscal Year: 2006..is of particular concern for the diagnosis of diseases commonly associated with large deletions in a gene, such as MODY5 (Bellanne-Chantelot, 2005)...
- FUNCTIONAL ANALYSIS OF VEFZ1, A NOVEL ENDOTHELIAL MARKERHeidi Stuhlmann; Fiscal Year: 2003..These include congenital cardiovascular abnormalities and pathological conditions such as rheumatoid arthritis, retinopathies, hemangiomas, psoriasis, solid tumors and metastases. ..
- Specification and Positioning of the PancreasCHARLES SAGERSTROM; Fiscal Year: 2005..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 ..
- Early development of the zebrafish pancreasAndrea Ward; Fiscal Year: 2006..The second aim of my study will test whether tcf2 and hb9 are downstream targets of retinoic acid in specifying beta-cells...
- Immune Regulation of Cysteinyl Leukotriene BiosynthesisBing K Lam; Fiscal Year: 2010....
- Genome Wide Mapping of in-vivo protein: DNA interactionsSANDRA SHARP; Fiscal Year: 2003....