HHEX

Summary

Gene Symbol: HHEX
Description: hematopoietically expressed homeobox
Alias: HEX, HMPH, HOX11L-PEN, PRH, PRHX, hematopoietically-expressed homeobox protein HHEX, homeobox protein HEX, homeobox protein PRH, homeobox, hematopoietically expressed, proline-rich homeodomain-containing transcription factor
Species: human

Top Publications

  1. ncbi The promyelocytic leukemia protein PML interacts with the proline-rich homeodomain protein PRH: a RING may link hematopoiesis and growth control
    Z Topcu
    Department of Physiology and Biophysics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Oncogene 18:7091-100. 1999
  2. pmc Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population
    Fumihiko Takeuchi
    Department of Medical Ecology and Informatics, Research Institute, International Medical Center of Japan, Tokyo, Japan
    Diabetes 58:1690-9. 2009
  3. doi Polymorphisms identified through genome-wide association studies and their associations with type 2 diabetes in Chinese, Malays, and Asian-Indians in Singapore
    Jonathan T Tan
    Department of Epidemiology and Public Health, Yong Loo Lin School of Medicine, National University of Singapore, Singapore
    J Clin Endocrinol Metab 95:390-7. 2010
  4. pmc Genetic variant in the IGF2BP2 gene may interact with fetal malnutrition to affect glucose metabolism
    Mandy van Hoek
    Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands
    Diabetes 58:1440-4. 2009
  5. pmc Genotype score in addition to common risk factors for prediction of type 2 diabetes
    James B Meigs
    General Medicine Division, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
    N Engl J Med 359:2208-19. 2008
  6. pmc Association analysis of type 2 diabetes Loci in type 1 diabetes
    Hui Qi Qu
    Departments of Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada
    Diabetes 57:1983-6. 2008
  7. doi The inhibitory effect of recent type 2 diabetes risk loci on insulin secretion is modulated by insulin sensitivity
    Axel Haupt
    Medical Clinic, Department of Endocrinology, Metabolism, Nephrology and Angiology, Otfried Muller Strasse 10, 72076 Tubingen, Germany
    J Clin Endocrinol Metab 94:1775-80. 2009
  8. ncbi HEX acts as a negative regulator of angiogenesis by modulating the expression of angiogenesis-related gene in endothelial cells in vitro
    Tomowaki Nakagawa
    Department of Vascular Biology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan
    Arterioscler Thromb Vasc Biol 23:231-7. 2003
  9. ncbi The proline-rich homeodomain protein recruits members of the Groucho/Transducin-like enhancer of split protein family to co-repress transcription in hematopoietic cells
    Tracey E Swingler
    Department of Biochemistry, University of Bristol, University Walk, Bristol BS8 1TD, United Kingdom
    J Biol Chem 279:34938-47. 2004
  10. pmc HEX expression and localization in normal mammary gland and breast carcinoma
    Cinzia Puppin
    Dipartimento di Scienze e Tecnologie Biomediche, Universita di Udine, Italy
    BMC Cancer 6:192. 2006

Detail Information

Publications199 found, 100 shown here

  1. ncbi The promyelocytic leukemia protein PML interacts with the proline-rich homeodomain protein PRH: a RING may link hematopoiesis and growth control
    Z Topcu
    Department of Physiology and Biophysics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Oncogene 18:7091-100. 1999
    ..2-hybrid techniques, we found that PML and a related RING protein, Z, bind the proline rich homeodomain protein (PRH) through their RING domains...
  2. pmc Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population
    Fumihiko Takeuchi
    Department of Medical Ecology and Informatics, Research Institute, International Medical Center of Japan, Tokyo, Japan
    Diabetes 58:1690-9. 2009
    ..To identify novel type 2 diabetes gene variants and confirm previously identified ones, a three-staged genome-wide association study was performed in the Japanese population...
  3. doi Polymorphisms identified through genome-wide association studies and their associations with type 2 diabetes in Chinese, Malays, and Asian-Indians in Singapore
    Jonathan T Tan
    Department of Epidemiology and Public Health, Yong Loo Lin School of Medicine, National University of Singapore, Singapore
    J Clin Endocrinol Metab 95:390-7. 2010
    ..However, the association in other East Asian populations is less well characterized...
  4. pmc Genetic variant in the IGF2BP2 gene may interact with fetal malnutrition to affect glucose metabolism
    Mandy van Hoek
    Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands
    Diabetes 58:1440-4. 2009
    ..We investigated the effects of such well-studied polymorphisms and their interactions with fetal malnutrition on type 2 diabetes risk and related phenotypes in the Dutch Famine Birth Cohort...
  5. pmc Genotype score in addition to common risk factors for prediction of type 2 diabetes
    James B Meigs
    General Medicine Division, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
    N Engl J Med 359:2208-19. 2008
    ..We tested the hypothesis that knowledge of these loci allows better prediction of risk than knowledge of common phenotypic risk factors alone...
  6. pmc Association analysis of type 2 diabetes Loci in type 1 diabetes
    Hui Qi Qu
    Departments of Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada
    Diabetes 57:1983-6. 2008
    To 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.
  7. doi The inhibitory effect of recent type 2 diabetes risk loci on insulin secretion is modulated by insulin sensitivity
    Axel Haupt
    Medical Clinic, Department of Endocrinology, Metabolism, Nephrology and Angiology, Otfried Muller Strasse 10, 72076 Tubingen, Germany
    J Clin Endocrinol Metab 94:1775-80. 2009
    ..We assessed whether the risk alleles in TCF7L2, CDKAL1, HHEX, SLC30A8, IGF2BP2, CDKN2A/2B, JAZF1, and WFS1 reduce insulin secretion in an additive manner and whether their ..
  8. ncbi HEX acts as a negative regulator of angiogenesis by modulating the expression of angiogenesis-related gene in endothelial cells in vitro
    Tomowaki Nakagawa
    Department of Vascular Biology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan
    Arterioscler Thromb Vasc Biol 23:231-7. 2003
    The hematopoietically expressed homeobox (HEX) is transiently expressed in endothelial cells (ECs) during vascular formation in embryo. Here, we investigated whether HEX played any role in angiogenesis-related properties of ECs in vitro.
  9. ncbi The proline-rich homeodomain protein recruits members of the Groucho/Transducin-like enhancer of split protein family to co-repress transcription in hematopoietic cells
    Tracey E Swingler
    Department of Biochemistry, University of Bristol, University Walk, Bristol BS8 1TD, United Kingdom
    J Biol Chem 279:34938-47. 2004
    The proline-rich homeodomain protein (PRH/Hex) is important in the control of cell proliferation and differentiation and in the regulation of multiple processes in embryonic development...
  10. pmc HEX expression and localization in normal mammary gland and breast carcinoma
    Cinzia Puppin
    Dipartimento di Scienze e Tecnologie Biomediche, Universita di Udine, Italy
    BMC Cancer 6:192. 2006
    The homeobox gene HEX is expressed in several cell types during different phases of animal development. It encodes for a protein localized in both the nucleus and the cytoplasm...
  11. pmc Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, OX3 7LJ, UK
    Science 316:1336-41. 2007
    ..in and around the genes CDKAL1, CDKN2A/CDKN2B, and IGF2BP2 and confirmed the recently described associations at HHEX/IDE and SLC30A8...
  12. pmc Polymorphisms within novel risk loci for type 2 diabetes determine beta-cell function
    Harald Staiger
    Department of Internal Medicine, Division of Endocrinology, Diabetology, Angiology, Nephrology, and Clinical Chemistry, Eberhard Karls University Tubingen, Tubingen, Germany
    PLoS ONE 2:e832. 2007
    ..Very recently, genetic variations within four novel genetic loci (SLC30A8, HHEX, EXT2, and LOC387761) were reported to be more frequent in subjects with type 2 diabetes than in healthy controls...
  13. ncbi Polymorphisms in the IDE-KIF11-HHEX gene locus are reproducibly associated with type 2 diabetes in a Japanese population
    Yasushi Furukawa
    The First Department of Medicine, Wakayama Medical University, 811 1 Kimiidera, Wakayama 641 8509, Japan
    J Clin Endocrinol Metab 93:310-4. 2008
    A genome-wide association study in the French population has detected that novel single-nucleotide polymorphisms (SNPs) in the IDE-KIF11-HHEX gene locus and the SLC30A8 gene locus are associated with susceptibility to type 2 diabetes.
  14. doi Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based cohort (the HUNT study)
    J K Hertel
    Department of Clinical Medicine, University of Bergen, Bergen, Norway
    Diabetologia 51:971-7. 2008
    ..To get a better estimation of the true risk conferred by these novel loci, we tested a completely unselected population of type 2 diabetes patients from a Norwegian health survey (the HUNT study)...
  15. pmc Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program
    Allan F Moore
    Center for Human Genetic Research, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA
    Diabetes 57:2503-10. 2008
    ....
  16. doi Variants of the PPARG, IGF2BP2, CDKAL1, HHEX, and TCF7L2 genes confer risk of type 2 diabetes independently of BMI in the German KORA studies
    C Herder
    Institute for Clinical Diabetes Research, German Diabetes Centre, Leibniz Centre at Heinrich Heine University Düsseldorf, Dusseldorf, Germany
    Horm Metab Res 40:722-6. 2008
    ..39, p-values 0.0008-0.0004]. In addition, we found evidence for association of SNPs in the genes PPARG, IGF2BP2, HHEX, TCF7L2, and FTO with type 2 diabetes in the same directions as previously described (p<0...
  17. doi Variants of CDKAL1 and IGF2BP2 affect first-phase insulin secretion during hyperglycaemic clamps
    M J Groenewoud
    Department of Molecular Cell Biology, Leiden University Medical Center LUMC, P O Box 9600, 2300 RC, Leiden, The Netherlands
    Diabetologia 51:1659-63. 2008
    ..Genome-wide association studies have recently identified novel type 2 diabetes susceptibility gene regions. We assessed the effects of six of these regions on insulin secretion as determined by a hyperglycaemic clamp...
  18. pmc The PRH/Hex repressor protein causes nuclear retention of Groucho/TLE co-repressors
    Cecile Desjobert
    Department of Biochemistry, Medical School, University of Bristol, University Walk, Bristol BS81TD, UK
    Biochem J 417:121-32. 2009
    The PRH (proline-rich homeodomain) [also known as Hex (haematopoietically expressed homeobox)] protein is a transcription factor that functions as an important regulator of vertebrate development and many other processes in the adult ..
  19. doi Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population
    Y M Cho
    Department of Internal Medicine, College of Medicine, Seoul National University, 28 Yongon dong Chongno gu, Seoul 110 744, Korea
    Diabetologia 52:253-61. 2009
    ..The aim of the present study was to examine the association between these diabetogenic variants and gestational diabetes mellitus (GDM)...
  20. pmc PRH/Hhex controls cell survival through coordinate transcriptional regulation of vascular endothelial growth factor signaling
    Peter Noy
    Institute for Biomedical Research, Birmingham University Medical School, Edgbaston, Birmingham B15 2TT, United Kingdom
    Mol Cell Biol 30:2120-34. 2010
    The proline-rich homeodomain protein (PRH) plays multiple roles in the control of gene expression during embryonic development and in the adult...
  21. pmc Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese population
    Xueyao Han
    Department of Endocrinology and Metabolism, Peking University People s Hospital, Peking University Diabetes Center, no 11, XiZhiMen South Street, Beijing, China
    BMC Med Genet 11:81. 2010
    ..many novel genetic loci for type 2 diabetes (T2D); among these genes, CDKAL1, IGF2BP2, SLC30A8, CDKN2A/B, HHEX, FTO, TCF2, KCNQ1, and WFS1 are the most important...
  22. doi Variations in/nearby genes coding for JAZF1, TSPAN8/LGR5 and HHEX-IDE and risk of type 2 diabetes in Han Chinese
    Dai Zhan Zhou
    Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 294 Taiyuan Road, Shanghai, PR China
    J Hum Genet 55:810-5. 2010
    Several genetic loci (JAZF1, CDC123/CAMK1D, TSPAN8/LGR5, ADAMTS9, VEGFA and HHEX-IDE) were identified to be significantly related to the risk of type 2 diabetes and quantitative metabolic traits in European populations...
  23. pmc Identification of a novel vertebrate homeobox gene expressed in haematopoietic cells
    M R Crompton
    Chester Beatty Laboratories, Institute of Cancer Research, London, UK
    Nucleic Acids Res 20:5661-7. 1992
    This paper describes the characterisation of a novel chicken homeobox gene, Prh, whose encoded homeodomain sequence differs significantly from those of other factors which have been described...
  24. ncbi Differential expression of a novel proline-rich homeobox gene (Prh) in human hematolymphopoietic cells
    G Manfioletti
    Dipartimento di Biochimica, Biofisica Chimica delle Macromolecole, Universita di Trieste, Italy
    Blood 85:1237-45. 1995
    Proline-rich homeobox (Prh) is a novel human homeobox-containing gene recently isolated from the CD34+ cell line KG-1A, and whose expression appears mainly restricted to hematopoietic tissues...
  25. pmc HEX: a novel homeobox gene expressed during haematopoiesis and conserved between mouse and human
    F K Bedford
    Leukaemia Research Fund Centre, Institute of Cancer Research, London, UK
    Nucleic Acids Res 21:1245-9. 1993
    ..The human cDNA was initially isolated from human haematopoietic tissue and denoted HEX (haematopoietically expressed homeobox)...
  26. pmc Expression and function of the homeodomain-containing protein Hex in thyroid cells
    L Pellizzari
    Dipartimento di Scienze e Tecnologie Biomediche, Universita di Udine, Italy
    Nucleic Acids Res 28:2503-11. 2000
    The homeodomain-containing protein Hex (also named Prh) is expressed in primitive endoderm (during the early phases of development), in some endoderm-derived tissues and in endothelial and hematopoietic precursors...
  27. ncbi Functional interaction of Jun and homeodomain proteins
    L K Schaefer
    Department of Neurosurgery, University of Texas M D Anderson Cancer Center, Houston, Texas 77030, USA
    J Biol Chem 276:43074-82. 2001
    ..One of the proteins identified is the homeodomain-containing protein Hex. The Hex homeodomain is sufficient for interaction; moreover, the homeodomains of several other transcription ..
  28. ncbi Genomic organization and chromosome mapping of the human homeobox gene HHEX
    M Morgutti
    Servizio di Genetica Medica, IRCCS Burlo Garofalo, Trieste, Italy
    Cytogenet Cell Genet 94:30-2. 2001
    In the present study, we report the genomic reconstruction of the human homeobox-containing gene HHEX by the use of the data available in public databases...
  29. ncbi Expression and localization of the homeodomain-containing protein HEX in human thyroid tumors
    Angela V D'Elia
    Dipartimento di Scienze e Tecnologie Biomediche, Universita di Udine, 33100 Udine, Italy
    J Clin Endocrinol Metab 87:1376-83. 2002
    ..The divergent homeobox gene HEX is expressed in the anterior visceral endoderm during early mouse development and in some adult tissues of ..
  30. pmc The proline-rich homeodomain protein, PRH, is a tissue-specific inhibitor of eIF4E-dependent cyclin D1 mRNA transport and growth
    Ivan Topisirovic
    Structural Biology Program and Institute for Computational Biomedicine, Department of Physiology and Biophysics, Mount Sinai School of Medicine, New York University, One Gustave Levy Place, New York, NY 10029, USA
    EMBO J 22:689-703. 2003
    ..Surprisingly, we found that a trans cription factor, the proline-rich homeodomain protein PRH, is a negative regulator of eIF4E in myeloid cells, interacting with eIF4E through a conserved binding site ..
  31. pmc The transcriptional repressor protein PRH interacts with the proteasome
    Kirstin L Bess
    Department of Biochemistry, University of Bristol, University Walk, Bristol BS81TD, UK
    Biochem J 374:667-75. 2003
    PRH (proline-rich homeodomain protein)/Hex is important in the control of cell proliferation and differentiation...
  32. ncbi The homeobox gene Hex induces T-cell-derived lymphomas when overexpressed in hematopoietic precursor cells
    Alex George
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Oncogene 22:6764-73. 2003
    ..in B- and T-cell leukemias and lymphomas in AKXD mice and activate two nearby genes, the divergent homeobox gene Hex and the kinesin-related spindle protein gene Eg5...
  33. ncbi Interaction between hex and GATA transcription factors in vascular endothelial cells inhibits flk-1/KDR-mediated vascular endothelial growth factor signaling
    Takashi Minami
    Research Center for Advanced Science and Technology, University of Tokyo, 4 6 1 Komaba, Meguro, Tokyo 153 8904, Japan
    J Biol Chem 279:20626-35. 2004
    ..Using yeast two-hybrid screening, we identified hematopoietically expressed homeobox (Hex) as a GATA-binding partner in endothelial cells...
  34. ncbi Oligomerisation of the developmental regulator proline rich homeodomain (PRH/Hex) is mediated by a novel proline-rich dimerisation domain
    Abdenour Soufi
    Department of Biochemistry, University of Bristol, University Walk, Bristol BS81TD, UK
    J Mol Biol 358:943-62. 2006
    ..The Proline Rich Homeodomain protein (PRH/Hex) is a transcription factor and an essential regulator of embryonic development and haematopoiesis...
  35. ncbi A genome-wide association study identifies novel risk loci for type 2 diabetes
    Robert Sladek
    Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, Montreal H3A 1A4, Canada
    Nature 445:881-5. 2007
    ..disequilibrium blocks that contain genes potentially involved in beta-cell development or function (IDE-KIF11-HHEX and EXT2-ALX4)...
  36. ncbi Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
    Richa Saxena
    Broad Institute of Harvard and Massachusetts Institute of Technology MIT, Cambridge, MA 02142, USA
    Science 316:1331-6. 2007
    ..region near CDKN2A and CDKN2B, in an intron of IGF2BP2, and an intron of CDKAL1-and replicated associations near HHEX and in SLC30A8 found by a recent whole-genome association study...
  37. pmc A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
    Laura J Scott
    Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Science 316:1341-5. 2007
    ..the genes IGF2BP2 and CDKAL1 and the region of CDKN2A and CDKN2B, and confirm that variants near TCF7L2, SLC30A8, HHEX, FTO, PPARG, and KCNJ11 are associated with T2D risk...
  38. ncbi Variation in the HHEX-IDE gene region predisposes to type 2 diabetes in the prospective, population-based EPIC-Potsdam cohort
    M B Schulze
    Diabetologia 50:2405-7. 2007
  39. ncbi Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function
    Laura Pascoe
    Diabetes Research Group, Newcastle University, Newcastle upon Tyne, UK
    Diabetes 56:3101-4. 2007
    ..have identified common, novel type 2 diabetes susceptibility loci within the FTO, CDKAL1, CDKN2A/CDKN2B, IGF2BP2, HHEX/IDE, and SLC30A8 gene regions...
  40. ncbi Studies of association of variants near the HHEX, CDKN2A/B, and IGF2BP2 genes with type 2 diabetes and impaired insulin release in 10,705 Danish subjects: validation and extension of genome-wide association studies
    Niels Grarup
    Steno Diabetes Center, Niels Steensens Vej 1, NLC2 14, 2820 Gentofte, Denmark
    Diabetes 56:3105-11. 2007
    ..validate the type 2 diabetes susceptibility alleles identified in six recent genome-wide association studies in the HHEX/KIF11/IDE (rs1111875), CDKN2A/B (rs10811661), and IGF2BP2 (rs4402960) loci, as well as the intergenic rs9300039 ..
  41. ncbi Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population
    M Horikoshi
    Department of Metabolic Diseases, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
    Diabetologia 50:2461-6. 2007
    ..FTO), solute carrier family 30 (zinc transporter), member 8 (SLC30A8), haematopoietically expressed homeobox (HHEX), exostoses (multiple) 2 (EXT2), CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), cyclin-dependent ..
  42. ncbi A candidate type 2 diabetes polymorphism near the HHEX locus affects acute glucose-stimulated insulin release in European populations: results from the EUGENE2 study
    Harald Staiger
    Internal Medicine IV, Medical Clinic Tübingen, Otfried Muller Str 10, D 72076 Tubingen, Germany
    Diabetes 57:514-7. 2008
    In recent genome-wide association studies, two single nucleotide polymorphisms (SNPs) near the HHEX locus were shown to be more frequent in type 2 diabetic patients than in control subjects...
  43. ncbi Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population
    Shintaro Omori
    Laboratory for Diabetic Nephropathy, SNP Research Center, RIKEN, 1 7 22 Suehiro cho, Tsurumi ku, Yokohama, Kanagawa 230 0045, Japan
    Diabetes 57:791-5. 2008
    ....
  44. doi Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study
    Stephane Cauchi
    CNRS 8090 Institute of Biology, Pasteur Institute, Lille, France
    J Mol Med (Berl) 86:341-8. 2008
    ..showing nominal to strong association with T2D in recently published GWA analyses (CDKAL1, IGFBP2, CDKN2A/2B, EXT2, HHEX, LOC646279, SLC30A8, MMP26, KCTD12, LDLR, CAMTA1, LOC38776, NGN3 and CXCR4)...
  45. doi HHEX gene polymorphisms are associated with type 2 diabetes in the Dutch Breda cohort
    Jana V van Vliet-Ostaptchouk
    Department of Pathology and Laboratory Medicine, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Eur J Hum Genet 16:652-6. 2008
    Recently, the hematopoietically expressed homeobox (HHEX) gene, encoding a transcription factor, was identified in a large genome-wide scan in French individuals as a type 2 diabetes (T2D)-susceptibility locus...
  46. pmc Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
    Eleftheria Zeggini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Genet 40:638-45. 2008
    ..1 x 10(-9)), ADAMTS9 (P = 1.2 x 10(-8)) and NOTCH2 (P = 4.1 x 10(-8)) gene regions. Our results illustrate the value of large discovery and follow-up samples for gaining further insights into the inherited basis of T2D...
  47. doi Leukemogenic mechanisms and targets of a NUP98/HHEX fusion in acute myeloid leukemia
    Dragana Jankovic
    Department of Research, University Hospital Basel, Basel, Switzerland
    Blood 111:5672-82. 2008
    ..involving nucleoporin 98 (NUP98) fused to the DNA-binding domain of the hematopoietically expressed homeobox gene (HHEX)...
  48. pmc Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value
    Stephane Cauchi
    CNRS 8090 Institute of Biology, Pasteur Institute, Lille, France
    PLoS ONE 3:e2031. 2008
    ..Our aims were to validate these markers in other European and non-European populations, then to assess their combined effect in a large French study comparing T2D and normal glucose tolerant (NGT) individuals...
  49. pmc Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians
    Maggie C Y Ng
    Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong, China
    Diabetes 57:2226-33. 2008
    ..However, the implications of these genes in Asians are unclear...
  50. doi Replication of genome-wide association studies of type 2 diabetes susceptibility in Japan
    Yukio Horikawa
    Department of Diabetes and Endocrinology, Division of Molecule and Structure, Gifu University School of Medicine, Gifu, Japan
    J Clin Endocrinol Metab 93:3136-41. 2008
    ..and populations of European origin, several groups have recently identified novel type 2 diabetes susceptibility genes, including FTO, SLC30A8, HHEX, CDKAL1, CDKN2B, and IGF2BP2, none of which were in the list of functional candidates.
  51. pmc Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk
    Hana Lango
    Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Diabetes 57:3129-35. 2008
    ..Here, we assess the ability of 18 confirmed type 2 diabetes variants to differentiate between type 2 diabetic case and control subjects...
  52. pmc Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk
    Dharambir K Sanghera
    Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA
    BMC Med Genet 9:59. 2008
    ..variant found near cyclin-dependent kinase inhibitor 2A (CDKN2A; rs10811661); hematopoietically expressed homeobox (HHEX; rs 1111875); transcription factor-7-like 2 (TCF7L2; rs 10885409); potassium inwardly rectifying channel subfamily ..
  53. pmc Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population
    Ying Wu
    Key Laboratory of Nutrition and Metabolism, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences and Graduate School of the Chinese Academy of Sciences, Shanghai, China
    Diabetes 57:2834-42. 2008
    Genome-wide association studies have identified common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, HHEX/IDE, EXT2, and LOC387761 loci that significantly increase the risk of type 2 diabetes...
  54. doi Beta cell glucose sensitivity is decreased by 39% in non-diabetic individuals carrying multiple diabetes-risk alleles compared with those with no risk alleles
    L Pascoe
    The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK
    Diabetologia 51:1989-92. 2008
    ..The aim of this study was to test the cumulative effects of diabetes-risk alleles on measures of beta cell function in non-diabetic individuals...
  55. doi DNA wrapping and distortion by an oligomeric homeodomain protein
    Hannah Williams
    Department of Biochemistry, School of Medical Sciences, University of Bristol, Bristol, UK
    J Mol Biol 383:10-23. 2008
    ..The proline-rich homeodomain (PRH/Hex) protein is a transcription factor that regulates cell differentiation and cell proliferation, and has multiple ..
  56. doi Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population
    Yong Ho Lee
    Department of Internal Medicine, Yonsei University College of Medicine, 134 Shinchon dong Seodaemun gu, Seoul 120 752, South Korea
    J Hum Genet 53:991-8. 2008
    ..The aim of the present study was to investigate the association among the polymorphisms of SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1 and KCNQ1 and the risk of T2DM in the Korean population...
  57. pmc Association analysis of variation in/near FTO, CDKAL1, SLC30A8, HHEX, EXT2, IGF2BP2, LOC387761, and CDKN2B with type 2 diabetes and related quantitative traits in Pima Indians
    Rong Rong
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona, USA
    Diabetes 58:478-88. 2009
    In recent genome-wide association studies, variants in CDKAL1, SLC30A8, HHEX, EXT2, IGF2BP2, CDKN2B, LOC387761, and FTO were associated with risk for type 2 diabetes in Caucasians...
  58. doi Clinical risk factors, DNA variants, and the development of type 2 diabetes
    Valeriya Lyssenko
    Department of Clinical Sciences, Lund University, Malmo, Sweden
    N Engl J Med 359:2220-32. 2008
    ..Type 2 diabetes mellitus is thought to develop from an interaction between environmental and genetic factors. We examined whether clinical or genetic factors or both could predict progression to diabetes in two prospective cohorts...
  59. pmc Replication study of candidate genes associated with type 2 diabetes based on genome-wide screening
    Yasuharu Tabara
    Department of Basic Medical Research and Education, Ehime University Graduate School of Medicine, Toon City, Ehime, Japan
    Diabetes 58:493-8. 2009
    ..A total of 11 previously reported single-nucleotide polymorphisms (SNPs) from the TCF7L2, CDKAL1, HHEX, IGF2BP2, CDKN2A/B, SLC30A8, and KCNJ11 genes were analyzed.
  60. doi Association between insulin secretion, insulin sensitivity and type 2 diabetes susceptibility variants identified in genome-wide association studies
    Stephanie May Ruchat
    Department of Preventive Medicine, Laval University, Quebec City, QC, Canada
    Acta Diabetol 46:217-26. 2009
    ..We analysed 23 SNPs in 9 T2DM genes (CDKAL1, CDKN2B, HHEX/IDE, IGF2BP2, KCNJ11, SLC30A8, TCF2, TCF7L2 and WFS1) in a maximum of 712 men and women from the Quebec Family ..
  61. doi The influence of genetic variations in HHEX gene on insulin metabolism in the German MESYBEPO cohort
    Olga Pivovarova
    Department of Clinical Nutrition, German Institute of Human Nutrition, Potsdam, Germany
    Diabetes Metab Res Rev 25:156-62. 2009
    ..alleles identified in the first genome-wide association study in the hematopoietically expressed homeobox protein (HHEX) gene region (rs1111875 and rs7923837)...
  62. doi Risk prediction of prevalent diabetes in a Swiss population using a weighted genetic score--the CoLaus Study
    X Lin
    Discovery Analytics, GlaxoSmithKline, Collegeville, PA, USA
    Diabetologia 52:600-8. 2009
    ....
  63. doi The risk allele load accelerates the age-dependent decline in beta cell function
    A Haupt
    Medical Clinic, Department of Internal Medicine IV Diabetology, Endocrinology, Nephrology, Angiology, and Clinical Chemistry, Eberhard Karls University, Otfried Muller Strasse 10, 72076, Tubingen, Germany
    Diabetologia 52:457-62. 2009
    Among the novel type 2 diabetes risk loci identified by genome-wide association studies, TCF7L2, HHEX, SLC30A8 and CDKAL1 appear to affect beta cell function...
  64. doi Interaction between prenatal growth and high-risk genotypes in the development of type 2 diabetes
    N Pulizzi
    Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy
    Diabetologia 52:825-9. 2009
    ..of this study was to investigate whether there is an interaction between birthweight and common variants in the TCF7L2, HHEX, PPARG, KCNJ11, SLC30A8, IGF2BP2, CDKAL1, CDKN2A/2B and JAZF1 genes in the risk of developing type 2 diabetes.
  65. pmc Type 2 diabetes risk alleles are associated with reduced size at birth
    Rachel M Freathy
    Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Diabetes 58:1428-33. 2009
    ..We tested whether common genetic variants that predispose to type 2 diabetes also reduce birth weight...
  66. pmc CK2 phosphorylation of the PRH/Hex homeodomain functions as a reversible switch for DNA binding
    Abdenour Soufi
    Institute for Biomedical Research, Birmingham University Medical School, Edgbaston, Birmingham, B15 2TT, UK
    Nucleic Acids Res 37:3288-300. 2009
    The proline-rich homeodomain protein (PRH/Hex) regulates transcription by binding to specific DNA sequences and regulates mRNA transport by binding to translation initiation factor eIF4E...
  67. pmc Joint effects of common genetic variants on the risk for type 2 diabetes in U.S. men and women of European ancestry
    Marilyn C Cornelis
    Harvard School of Public Health, Channing Laboratory, Boston, MA 02115, USA
    Ann Intern Med 150:541-50. 2009
    ..Genome-wide association studies have identified novel type 2 diabetes loci, each of which has a modest impact on risk...
  68. pmc Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men
    Alena Stancakova
    Department of Medicine, University of Kuopio and Kuopio University Hospital, Kuopio, Finland
    Diabetes 58:2129-36. 2009
    ..We investigated the effects of 18 confirmed type 2 diabetes risk single nucleotide polymorphisms (SNPs) on insulin sensitivity, insulin secretion, and conversion of proinsulin to insulin...
  69. pmc Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene
    Jianhua Zhao
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Diabetes 58:2414-8. 2009
    ..has been demonstrated between low birth weight and single nucleotide polymorphisms (SNPs) at the CDKAL1 and HHEX-IDE loci, regions that were previously implicated in the pathogenesis of type 2 diabetes...
  70. doi HHEX-IDE polymorphism is associated with low birth weight in offspring with a family history of type 1 diabetes
    Christiane Winkler
    Institut fuer Diabetesforschung der Forschergruppe Diabetes e V at the Helmholtz Center Munich, 85764 Neuherberg, Germany
    J Clin Endocrinol Metab 94:4113-5. 2009
    ..hypothesis proposes that common genetic variants that reduce insulin secretion also reduce birth weight, and an association of low birth weight and the type 2 diabetes risk alleles at the HHEX-IDE and CDKAL1 loci were recently reported.
  71. pmc PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population
    Cheng Hu
    Department of Endocrinology and Metabolism, Shanghai Jiao Tong University Affiliated Sixth People s Hospital, Shanghai, China
    PLoS ONE 4:e7643. 2009
    ..In this study, we attempt to analyze the independent and joint effect of variants from these loci on type 2 diabetes and clinical phenotypes related to glucose metabolism...
  72. pmc Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI
    Jianhua Zhao
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Diabetes 59:751-5. 2010
    ..Our goal was to investigate if any type 2 diabetes variants uncovered through genome-wide association studies (GWAS) impact BMI in childhood...
  73. pmc Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family Study
    S M Ruchat
    Department of Social and Preventive Medicine, PEPS Laval University, 2300 rue de Terrasse, Quebec, QC, Canada G1V 0A6
    Diabetologia 53:679-89. 2010
    ....
  74. pmc Impact of common variants of PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 on the risk of type 2 diabetes in 5,164 Indians
    Ganesh Chauhan
    Functional Genomics Unit, Institute of Genomics and Integrative Biology CSIR, Delhi, India
    Diabetes 59:2068-74. 2010
    Common variants in PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 genes have been shown to be associated with type 2 diabetes in European populations by genome-wide association studies...
  75. pmc Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population
    Ying Lin
    Center for Human Molecular Biology and Genetics, Sichuan Academy of Medical Sciences and Sichuan Provincial People s Hospital, Chengdu, Sichuan, China
    BMC Med Genet 11:97. 2010
    ..Nineteen single nucleotide polymorphisms (SNPs) from the eight genes/loci including TCF7L2, HHEX, CDKAL1, SLC30A8, PPARG, IGF2BP2, KCNJ11, and CDKN2A/CDKN2B were genotyped in 1,529 cases and 1,439 controls in a ..
  76. doi Replication of recently described type 2 diabetes gene variants in a South Indian population
    Manickam Chidambaram
    Department of Molecular Genetics, Madras Diabetes Research Foundation ICMR Advanced Centre for Genomics of Diabetes, Chennai 603103, India
    Metabolism 59:1760-6. 2010
    ..029)-of the CDKAL1, rs7020996 (P = .003) of the CDKN2A/B gene, rs7923837 (P = .038) of the HHEX gene, and rs12056034 (P = .033) of the BAZ1B gene were associated with T2D in our population...
  77. doi A validation study of type 2 diabetes-related variants of the TCF7L2, HHEX, KCNJ11, and ADIPOQ genes in one endogamous ethnic group of north India
    Vipin Gupta
    South Asia Network for Chronic Disease, Public Health Foundation of India, Delhi 110016
    Ann Hum Genet 74:361-8. 2010
    The aim of this study was to validate the single nucleotide polymorphisms (SNPs) of four candidate genes (TCF7L2, HHEX, KCNJ11, and ADIPOQ) related to type 2 diabetes (T2D) in an endogamous population of north India; the Aggarwal ..
  78. doi Quantitative assessment of the influence of hematopoietically expressed homeobox variant (rs1111875) on type 2 diabetes risk
    Yudong Wang
    Department of Obstetrics and Gynecology, The 6th People s Hospital, Shanghai Jiaotong University, 600 Yishan Road, Shanghai, China
    Mol Genet Metab 102:194-9. 2011
    Hematopoietically expressed homeobox (HHEX) gene encodes for a transcription factor involved in Wnt/β-catenin signaling pathway which has attracted considerable attention as a candidate gene for type 2 diabetes (T2D) since it was first ..
  79. doi Meta-analysis of the effect of HHEX gene polymorphism on the risk of type 2 diabetes
    Yu Cai
    Department of Gastroenterology, Zhongshan Hospital, Fudan University, 180 Feng Lin Road, Shanghai 200032, People s Republic of China
    Mutagenesis 26:309-14. 2011
    ..the past decade, a number of case-control studies have been carried out to investigate the relationship between the HHEX polymorphism and type 2 diabetes (T2D). However, the results have been inconclusive...
  80. pmc Heterogeneity of genetic associations of CDKAL1 and HHEX with susceptibility of type 2 diabetes mellitus by gender
    Hyunju Ryoo
    School of Systems Biomedical Science, Soongsil University, Seoul, Korea
    Eur J Hum Genet 19:672-5. 2011
    ..0015). One was located near the gene of hematopoietically expressed homeobox (HHEX), and the others were all in the gene of cyclin-dependent kinase 5 regulatory subunit-associated protein 1-like 1 (..
  81. doi Association of genetic variations in TCF7L2, SLC30A8, HHEX, LOC387761, and EXT2 with Type 2 diabetes mellitus in Tunisia
    Chamseddine Kifagi
    Targets for Diagnosis and Therapeutic in the Human Pathology Research Unit, Center of Biotechnology of Sfax, route Sidi mansour Km 6, Sfax, Tunisia
    Genet Test Mol Biomarkers 15:399-405. 2011
    In recent genome-wide association studies, genetic variants in TCF7L2, SLC30A8, HHEX, LOC387761, and EXT2 were associated with risk for type 2 diabetes mellitus (T2DM)...
  82. ncbi PCR cloning of an orphan homeobox gene (PRH) preferentially expressed in myeloid and liver cells
    R Hromas
    Walther Oncology Center, Indiana University Medical Center, Indianapolis 46202
    Biochem Biophys Res Commun 195:976-83. 1993
    ..polymerase chain reaction (PCR), we cloned from the HL60 promyelocytic cell line a homeobox gene we now designate PRH. We mapped this gene, which was not homologous to any of the previously described homeobox genes, to chromosome 10, ..
  83. pmc ZD1542, a potent thromboxane A2 synthase inhibitor and receptor antagonist in vitro
    R P Brownlie
    Vascular Inflammatory and Musculoskeletal Research Department, Zeneca Pharmaceuticals, Macclesfield, Cheshire
    Br J Pharmacol 110:1600-6. 1993
    ..action of ZD1542 (4(Z)-6-[2S,4S,5R)-2-[1-methyl-1-(2-nitro-4-tolyloxy)ethyl]-4-(3- pyridyl)-1,3-dioxan-5-yl]hex-4-enoic acid) has been evaluated in vitro on platelets and whole blood from a range of species including man...
  84. ncbi [Late infantile and juvenile form of GM2-gangliosidosis variant B1]
    J Eiris
    Departamento de Pediatria, Hospital General de Galicia, Complejo Hospitalario Universitario de Santiago de Compostela, Espana
    Rev Neurol 29:435-8. 1999
    ..The mutated Hex A has almost normal activity against the natural synthetic substrates (4-methylumbelliferyl-N-acetyl-beta-D-..
  85. ncbi II. Characterization and development of the regional- and cellular-specific abnormalities in the epididymis of mice with beta-hexosaminidase A deficiency
    H I Adamali
    Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, Canada
    J Androl 20:803-24. 1999
    Beta-hexosaminidase (Hex) is a lysosomal enzyme that exists as two isoenzymes: Hex A (subunit structure alphabeta) and Hex B (betabeta)...
  86. ncbi Antiulcerogenic activity of four extracts obtained from the bark wood of Quassia amara L. (Simaroubaceae)
    Walber Toma
    Departamento de Fisiologia e Biofisica, Instituto de Biologia, Universidade Estadual de Campinas, Sao Paulo, Brazil
    Biol Pharm Bull 25:1151-5. 2002
    ..extracts of different polarities: 70% ethanol (70% EtOH), 100% EtOH, 100% dichloromethane (DCM), and 100% hexane (HEX) obtained from Quassia amara bark...
  87. pmc The four hexamerin genes in the honey bee: structure, molecular evolution and function deduced from expression patterns in queens, workers and drones
    Juliana R Martins
    Faculdade de Medicina de Ribeirao Preto, Departamento de Genetica, Universidade de Sao Paulo, Ribeirao Preto, SP, Brazil
    BMC Mol Biol 11:23. 2010
    ....
  88. pmc An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants)
    Joe T R Clarke
    Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
    Mol Genet Metab 102:6-12. 2011
    ..an autosomal recessive, neurodegenerative, lysosomal storage disease, caused by deficiency of ß-hexosaminidase A (Hex A), resulting from mutations in the HEXA (Tay-Sachs variant) or the HEXB (Sandhoff variant) genes...
  89. ncbi Nicotine activates cell-signaling pathways through muscle-type and neuronal nicotinic acetylcholine receptors in non-small cell lung cancer cells
    Diane L Carlisle
    Department of Pharmacology, University of Pittsburgh, E1340 Biomedical Science Tower, Pittsburgh, PA 15213, USA
    Pulm Pharmacol Ther 20:629-41. 2007
    ..Inhibition was observed at 100 nM alpha-bungarotoxin (alpha-BTX) or 10 microM hexamethonium (HEX); maximal inhibition was achieved using a combination of alpha-BTX and HEX...
  90. ncbi Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases
    J Q Huang
    McGill University Montreal Children s Hospital Research Institute, Montreal, Quebec, Canada
    Hum Mol Genet 6:1879-85. 1997
    ..neurodegenerative diseases resulting from the inability to catabolize GM2 ganglioside by beta-hexosaminidase A (Hex A) due to mutations of the alpha subunit (Tay-Sachs disease) or beta subunit (Sandhoff disease) of Hex A...
  91. ncbi Enhanced transglucosylation/hydrolysis ratio of mutants of Pyrococcus furiosus beta-glucosidase: effects of donor concentration, water content, and temperature on activity and selectivity in hexanol
    T Hansson
    Department of Biotechnology, Center for Chemistry and Chemical Engineering, Lund University, P O Box 124, SE 221 00 Lund, Sweden
    Biotechnol Bioeng 75:656-65. 2001
    ..selectivity towards transglucosylation was quantified by the S value defined as follows: S = r(S) x a(W)/r(H) x a(hex) where r(S) and r(H) are the initial rates of transglucosylation and hydrolysis and a(w) and a(hex) are the ..
  92. ncbi [Concentration of thyroid stimulating hormone and activity of N-acetyl-beta-D-hexosaminidase and its isoenzymes, in serum of patients with thyroid cancer]
    Piotr Zwierz
    Department of Pharmaceutical Biochemistry, Medical University of Białystok, Poland
    Pol Merkur Lekarski 21:439-42. 2006
    ..in activity of N-acetyl-beta-D-hexosaminidase and its isoenzymes A and B in serum of patients with neoplasms of kidney and pancreas suggest approporiateness of evaluation of HEX and its isoenzymes in diagnostics of thyroid cancer.
  93. doi [Hexosoaminidase gene expression in cholesteatoma in adults]
    Justyna Rutkowska
    Klinika Otolaryngologii Uniwersytetu Medycznego w Białymstoku
    Otolaryngol Pol 63:490-5. 2009
    ..The higher activity of N-acetyl-beta3-glucosaminidase (HEX) was noted in cholesteatoma tissue, compared to the controls...
  94. ncbi Kidney sulfatides in mouse models of inherited glycosphingolipid disorders: determination by nano-electrospray ionization tandem mass spectrometry
    Roger Sandhoff
    Deutsches Krebsforschungszentrum Heidelberg, Abteilung für Zelluläre und Molekulare Pathologie, INF 280, 69120 Heidelberg, Germany
    J Biol Chem 277:20386-98. 2002
    ..2) In analogy to GD1a, SB1a is degraded via SM2a. 3) SM2a is hydrolyzed to SM3 by beta-hexosaminidase S (Hex S) and Hex A, but not Hex B. Both enzymes are supported by GM2-activator protein...
  95. doi Antinociceptive effect of Zanthoxylum rhoifolium Lam. (Rutaceae) in models of acute pain in rodents
    S S Pereira
    Medicinal Plants Research Center, Federal University of Piaui, Teresina, Brazil
    J Ethnopharmacol 129:227-31. 2010
    ..the antinociceptive effect of the ethanolic extract from this species' stem bark (EtOH), its fractions of partition (hexane-HEX, ethyl acetate-AcOEt, aqueous-AQ) and lupeol (a triterpene obtained from HEX) in models of acute pain.
  96. ncbi Effects of ganglionic blocking agents on behavioral responses to centrally administered CRF
    D R Britton
    University of Health Sciences Chicago Medical School, IL
    Brain Res 478:205-10. 1989
    The ganglionic blocking agents, chlorisondamine (CL) and hexamethonium (HEX) were used to examine the role of altered autonomic function in the behavioral response to i.c.v.-administered corticotropin-releasing factor (CRF)...
  97. ncbi A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease
    Y Hou
    The Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    J Biol Chem 273:21386-92. 1998
    ..in the genes encoding the alpha- (Tay-Sachs) or beta- (Sandhoff) subunits of heterodimeric beta-hexosaminidase A (Hex A), or the GM2 activator protein (AB variant), a substrate-specific co-factor for Hex A...
  98. pmc Mutations that confer resistance to 2-deoxyglucose reduce the specific activity of hexokinase from Myxococcus xanthus
    P Youderian
    Department of Microbiology, Molecular Biology and Biochemistry, University of Idaho, Moscow, Idaho 83844 3052, USA
    J Bacteriol 181:2225-35. 1999
    ..Mutants of M. xanthus resistant to 2dGlc, designated hex mutants, arise at a low spontaneous frequency. Expression of the Escherichia coli glk (glucokinase) gene in M...
  99. ncbi Biochemical characterization of the GM2 gangliosidosis B1 variant
    J C Tutor
    Laboratorio Central, Hospital Clinico Universitario, Santiago de Compostela, Spain
    Braz J Med Biol Res 37:777-83. 2004
    The deficiency of the A isoenzyme of beta-hexosaminidase (Hex) produced by different mutations of the gene that codes for the alpha subunit (Tay-Sachs disease) has two variants with enzymological differences: the B variant consists of ..
  100. ncbi Effects of bovine polymerized hemoglobin on coagulation in controlled hemorrhagic shock in swine
    Francoise Arnaud
    Naval Medical Research Center, RMD Hematomimetics Program, Silver Spring, Maryland 20910 7500, USA
    Shock 24:145-52. 2005
    ..Pigs were resuscitated with HBOC-201 (HBOC) or hydroxyethyl starch (HEX), or were not resuscitated (NON) based on cardiac parameters during a 4-h prehospital phase...
  101. pmc Assessing the severity of the small inframe deletion mutation in the alpha-subunit of beta-hexosaminidase A found in the Turkish population by reproducing it in the more stable beta-subunit
    I Sinici
    Department of Biochemistry, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey
    J Inherit Metab Dis 27:747-56. 2004
    ..a defect in one of three genes, two of which encode the alpha- or beta-subunits of beta- N -acetylhexosaminidase (Hex) A...

Research Grants53

  1. TRANSCRIPTIONAL CONTROL OF PANCREATIC DEVELOPMENT
    Klaus H Kaestner; Fiscal Year: 2013
    ..on chromosome 10, because in this case three genes are in the same haplotype block and thus inherited together: HHEX (Hematopoietically expressed homeobox), KIF11 (kinesin-interacting factor 11) and IDE (insulin-degrading enzyme)...
  2. Molecular genetic control of the immature female mosquito vector
    Helen Benes; Fiscal Year: 2012
    ..Recently, we isolated, from an Aedes atropalpus hexamerin gene (Hex-1.2), specific enhancer-promoter regulatory DNA sequences, which we have termed the hexamerin-enhancer (Hex-Enh)...
  3. GM2 Gangliosidosis Therapy Using Neurotropic Enzyme
    Kostantin Dobrenis; Fiscal Year: 2010
    ..neuronal uptake and depletion of lysosomal storage could be attained by chemically coupling beta- hexosaminidase (Hex), the deficient enzyme in GM2 gangliosidosis, to Hc...
  4. JOCELYNE H BACHEVALIER; Fiscal Year: 2015
    ..of macaque memory and compared it with that of monkeys with neonatal hippocampal (H) or perirhinal cortex (PRh) damage...
  5. Novel multivalent/multifunctional agents derived from a humanized anti-insulin-li
    Thomas M Cardillo; Fiscal Year: 2010
    ..The resulting hexavalent hR1 reagent (Hex-hR1) will be composed of hR1 IgG linked to four hR1 Fabs...
  6. Generation of monoclonal and polyclonal antibodies to neolacto-series ganglioside
    Amjad A Ilyas; Fiscal Year: 2010
    ..The major neolacto- series gangliosides of human PNS are LM1 and Hex-LM1. Gangliosides have been implicated as antigens in various autoimmune neuropathies...
  7. Emotional learning-induced changes of neuronal representations in the hippocampal
    Almira Vazdarjanova; Fiscal Year: 2010
    ..changes long term memory-related information processing in CA1 and projecting to it parts of CA3, perirhinal (PRh, area 35) and lateral entorhinal cortex (LEC)...
  8. Longitudinal Imaging of Frontal Cortex Afferents in a Mouse Model of Anxiety
    LINDA E WILBRECHT; Fiscal Year: 2013
    ..In our animal model of this process, underdevelopment of the (parahippocampal) perirhinal (PRH) cingulated afferents enable enhanced, competitive development of the basolateral amygdala (BLA) cingulated ..
  9. GLYCOSPHINGOLIPIDS IN MURINE NEURODEGENERATIVE DISEASES
    Thomas N Seyfried; Fiscal Year: 2012
    ..The studies will be largely conducted in [unreadable]-gal -/-, and Hex[unreadable] -/- mice that accumulate GM1 and GM2, respectively...
  10. AAV-mediated gene therapy for GM2-gangliodoses
    MIGUEL S ESTEVES; Fiscal Year: 2012
    ..lysosomal storage diseases resulting from deficient activity of the enzyme yS-N-acetlyhexosaminidase (Hex)...
  11. Sonia Caprio; Fiscal Year: 2014
    ..between a panel of 16 gene variants (TCF7L2, PPARG, FTO, KCNJ11, NOTCH2, WFS1, CDKAL1, IGF2BP2, SLC30A8, JAZF1, HHEX, CDC123/CAMK1D, WFS1, TSPAN8/LGR5, THADA, ADAMTS9) and measures of beta-cell function in obese adolescents with a ..
  12. A Phase l Study of Pyrimethamine in patients with GM-2 Gangliosidosis
    Bijan Almassian; Fiscal Year: 2007
    ..TSD) and Sandhoff disease (SD) result from a deficiency of lysosomal heterodimeric [unreadable]-hexosaminidase A (Hex A, a[unreadable])...
  13. Design and Study of New Nicotinic Analogs for Use in Depression
    ALAN PAUL KOZIKOWSKI; Fiscal Year: 2013
    ..The lead compounds in this endeavor belong to the AMOP-H-OH (6-[5-(azetidin-2-ylmethoxy)-pyridin-3-yl]-hex-5-yn-1-ol) family of products...
  14. HEX EXPRESSION AND REGULATION IN DEVELOPING LUNG
    CLIFFORD BOGUE; Fiscal Year: 2000
    ..The divergent homeobox gene Hex is expressed in the developing lung but nothing is known about its temporo- spatial pattern of expression or its ..
  15. LUNG INFLAMMATION
    Gerald Weissmann; Fiscal Year: 1999
    ..Specific Aim IV. To test the hypothesis that the physical state of phospholipids (lamellar vs Hex(II)) as regulated by phospholipases A, C and D regulates a) the association of prenylated proteins with the ..
  16. AIRWAY MYOCYTE PROLIFERATION AND LYSOSOMAL HYDROLASE
    DUKHEE LEW; Fiscal Year: 2001
    ..To accomplish specific aims 1 and 2, the activities of above kinases and cell proliferation in response to Hex and a mannosyl-rich neoglycoprotein in the presence and the absence of specific inhibitors, antisense-, sense-, and ..
  17. DNA MISMATCH REPAIR IN TRANSFORMATION AND MUTAGENESIS
    Sanford Lacks; Fiscal Year: 1991
    ..A number of chromosomal mutations, called hex, block action of the repair system...
  18. REGULATION OF SEX-SPECIFIC CHEMOSENSITIVITY
    MARC WEISSBURG; Fiscal Year: 1999
    ..Lastly, differential distribution of receptor binding sites may participate in the regulation of hex-specific sensitivity of CRNs, and has not been previously investigated in great detail...
  19. Molecular Genetic Basis of Mouse B Cell Lymphoma
    Monica Justice; Fiscal Year: 2005
    ..Two genes proximal to Lvisl are misexpressed: the hematopoietic homeobox gene, Hex, and a kinesin-related spindle protein, Eg5...
  20. MOLECULAR MECHANISMS OF PML MEDIATED GROWTH CONTROL
    KATHERINE BORDEN; Fiscal Year: 2005
    ..components include eukaryotic translation initiation factor (4E (eKF-4E) and the proline-rich homeodomain protein PRH. In addition, PRH and eIF-4E interact...
  21. DEVELOPMENT OF NOCICEPTIN-BASED ANALGESICS
    AMRIT JUDD; Fiscal Year: 2002
    ..During Phase I studies, we were able to identify a group of small derivatized hex peptides with high binding affinity to human ORL I receptor...
  22. The Role of the Homeobox Gene Hex in Hematopoietic Differentiation
    Helicia Paz; Fiscal Year: 2009
    ..The hematopoietically expressed homeobox gene, Hex, is an interesting candidate gene in the study of early hematopoietic differentiation...
  23. REGULATION OF CARDIAC MYOGENESIS
    PARKER ANTIN; Fiscal Year: 2002
    ..Finally experiments will investigate how expression of the homeobox gene Hex in anterior lateral endoderm regulates later stages of cardiac myogenesis...
  24. The Homeoprotein Hex Regulates Hemangioblast Differentiation
    Robert Hromas; Fiscal Year: 2007
    ..We and others isolated a divergent Hox gene termed Hex (or Prh) that in the adult is preferentially expressed in all myeloid and B-cells but not T-cells...
  25. Methylphenidate & gene expression in the rat brain.
    JOAN BAIZER; Fiscal Year: 2004
    ..abstract_text> ..
  26. Hhex-a Homeobox Gene Necessary for Liver Development
    Clifford W Bogue; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Mice with a null mutation of the homeobox gene Hhex die mid-gestation with multiple developmental defects, including complete absence of the liver...
  27. Hex - a Homeobox Gene Essential for Liver Development
    CLIFFORD BOGUE; Fiscal Year: 2007
    Both we and others have shown that mice with a null mutation of the homeobox gene Hhex die mid-gestation with multiple developmental defects, including complete absence of the liver (REF)...
  28. Soyfood, gene polymorphisms and endometrial cancer risk
    Xiao Ou Shu; Fiscal Year: 2010
    ..abstract_text> ..
  29. BIOLOGICAL STUDIES OF PIPERIDINE ANALOGS OF COCAINE
    Alan Kozikowski; Fiscal Year: 2001
    ..4. For compounds meeting set criteria, to further evaluate their behavioral pharmacological profile in animals using intravenous drug self-administration and drug discrimination procedures. ..
  30. MALIGNANT GERM CELL TUMORS IN CHILDREN
    Xiao Shu; Fiscal Year: 2001
    ..The relatively large sample size will provide sufficient statistical power to address the hypotheses being investigated. ..
  31. GLYCOPROTEIN HORMONE BIOSYNTHESIS AND ACTION
    JOEL HABENER; Fiscal Year: 2002
    ..These studies have potential relevance to understanding the molecular mechanisms controlling spermatogenesis and fertility. ..
  32. PANCREATIC ISLET-DERIVED STEM CELLS
    JOEL HABENER; Fiscal Year: 2002
    ..As proposed in this application, transplantation of NIPs directly into the pancreata of STZ-induced and NOD diabetic mice will differentiate NIPs into Beta-cells and permanently cure the diabetes. ..
  33. TRANSCRIPTION FACTORS AND THE ENDOCRINE PANCREAS
    JOEL HABENER; Fiscal Year: 2003
    ....
  34. NEURONAL FUNCTION IN CRANIOFACIAL DEVELOPMENT
    Stephanos Kyrkanides; Fiscal Year: 2004
    ..abstract_text> ..
  35. Gene therapy for treatment of craniofacial dysplasia
    Stephanos Kyrkanides; Fiscal Year: 2004
    ..feline immunodeficiency viral vector developed in our laboratory for beta-hexosaminidase gene therapy, FIV(Hex), we will test whether restoration of the underlying genetic deficiency in hexA-/-/hexB-/- mice will result in ..
  36. Early T cell checkpoint violation in NOD mice
    Mary A Yui; Fiscal Year: 2010
    ..Identifying genes and pathways affectingT cells, which predispose NOD mice to T1D will help in the understanding of immune deviations that can lead to disease in humans. ..
  37. CHEMICAL AND PHARMACOLOGICAL STUDIES OF COCAINE ANALOGS
    Alan Kozikowski; Fiscal Year: 2004
    ....
  38. DESIGN OF LIGANDS SELECTIVE FOR THE DAG SUPERFAMILY
    Alan Kozikowski; Fiscal Year: 2002
    ..To assess the effect of alterations in the ligand's hydrophobic side chain on its tumor promoting activity, studies of skin hyperplasia will be conducted. ..
  39. Phenotype-Genotype Interactions and Type 2 Diabetes
    James Meigs; Fiscal Year: 2005
    ..Results will provide a foundation for future laboratory efforts and will increase understanding of phenotype-genotype interactions in diabetes pathogenesis. ..
  40. Recombinant FIV vectors for the delivery of siRNA therapy to joints
    Stephanos Kyrkanides; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  41. Breast Cancer Survival: Lifestyle and Genetic Determinants
    Xiao Ou Shu; Fiscal Year: 2010
    ..The proposed study, built on successfully implemented cohort studies, will be extremely timely and cost-efficient. ..
  42. Chemistry and Biology of 5-HT2C Receptor Ligands for Drug Abuse
    ALAN PAUL KOZIKOWSKI; Fiscal Year: 2010
    ....
  43. Comparison of LCD vs CRT displays for mammography
    David Channin; Fiscal Year: 2006
    ..The knowledge garnered under the auspices of this project will help further advance our understanding of optimized medical image display. ..
  44. Joint degeneration: Somatic mosaic analysis in a transgenic mouse
    Stephanos Kyrkanides; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  45. Chemistry and Pharmacology of a New Nicotine Ligands
    Alan Kozikowski; Fiscal Year: 2007
    ..Functional activity will be evaluated using established 86RbC1 efflux assays and/or whole cell patch clamp measurements. ..
  46. Long-Term Neural Determinants of Cardiovascular Diseases
    John Osborn; Fiscal Year: 2009
    ..abstract_text> ..
  47. Soy Food and Coronary Heart Disease in Women
    Xiao Ou Shu; Fiscal Year: 2008
    ....
  48. PKC Modulators for the Treatment of Alzheimer's disease
    Alan Kozikowski; Fiscal Year: 2008
    ..For the best compounds from Aim 2, perform studies in triple transgenic mice to ascertain effects on Abeta and sAPPalpha levels and plaque formation in vivo. ..
  49. Does peripheral localized chronic inflammation predispose to neurodegeneration?
    Stephanos Kyrkanides; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  50. NEURAL MECHANISMS OF LONG-TERM CARDIOVASCULAR CONTROL
    John Osborn; Fiscal Year: 2007
    ..Taken together, this integrative physiological approach will advance our understanding of the neural mechanisms for long-term control of arterial pressure and pathogenesis of neurogenic hypertension. [unreadable] [unreadable]..
  51. GLUCAGON BIOSYNTHESIS AND METABOLISM
    JOEL HABENER; Fiscal Year: 2008
    ....