Genomes and Genes
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
Publications199 found, 100 shown here
- The promyelocytic leukemia protein PML interacts with the proline-rich homeodomain protein PRH: a RING may link hematopoiesis and growth controlZ 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...
- Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese populationFumihiko 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...
- Polymorphisms identified through genome-wide association studies and their associations with type 2 diabetes in Chinese, Malays, and Asian-Indians in SingaporeJonathan 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...
- Genetic variant in the IGF2BP2 gene may interact with fetal malnutrition to affect glucose metabolismMandy 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...
- Genotype score in addition to common risk factors for prediction of type 2 diabetesJames 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...
- 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.
- The inhibitory effect of recent type 2 diabetes risk loci on insulin secretion is modulated by insulin sensitivityAxel 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 ..
- HEX acts as a negative regulator of angiogenesis by modulating the expression of angiogenesis-related gene in endothelial cells in vitroTomowaki Nakagawa
Department of Vascular Biology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan
Arterioscler Thromb Vasc Biol 23:231-7. 2003The 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.
- The proline-rich homeodomain protein recruits members of the Groucho/Transducin-like enhancer of split protein family to co-repress transcription in hematopoietic cellsTracey E Swingler
Department of Biochemistry, University of Bristol, University Walk, Bristol BS8 1TD, United Kingdom
J Biol Chem 279:34938-47. 2004The 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...
- HEX expression and localization in normal mammary gland and breast carcinomaCinzia Puppin
Dipartimento di Scienze e Tecnologie Biomediche, Universita di Udine, Italy
BMC Cancer 6:192. 2006The 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...
- Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetesEleftheria 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...
- Polymorphisms within novel risk loci for type 2 diabetes determine beta-cell functionHarald 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...
- Polymorphisms in the IDE-KIF11-HHEX gene locus are reproducibly associated with type 2 diabetes in a Japanese populationYasushi Furukawa
The First Department of Medicine, Wakayama Medical University, 811 1 Kimiidera, Wakayama 641 8509, Japan
J Clin Endocrinol Metab 93:310-4. 2008A 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.
- 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)...
- Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention programAllan F Moore
Center for Human Genetic Research, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA
Diabetes 57:2503-10. 2008....
- Variants of the PPARG, IGF2BP2, CDKAL1, HHEX, and TCF7L2 genes confer risk of type 2 diabetes independently of BMI in the German KORA studiesC 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...
- Variants of CDKAL1 and IGF2BP2 affect first-phase insulin secretion during hyperglycaemic clampsM 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...
- The PRH/Hex repressor protein causes nuclear retention of Groucho/TLE co-repressorsCecile Desjobert
Department of Biochemistry, Medical School, University of Bristol, University Walk, Bristol BS81TD, UK
Biochem J 417:121-32. 2009The 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 ..
- Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean populationY 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)...
- PRH/Hhex controls cell survival through coordinate transcriptional regulation of vascular endothelial growth factor signalingPeter Noy
Institute for Biomedical Research, Birmingham University Medical School, Edgbaston, Birmingham B15 2TT, United Kingdom
Mol Cell Biol 30:2120-34. 2010The proline-rich homeodomain protein (PRH) plays multiple roles in the control of gene expression during embryonic development and in the adult...
- Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese populationXueyao 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...
- Variations in/nearby genes coding for JAZF1, TSPAN8/LGR5 and HHEX-IDE and risk of type 2 diabetes in Han ChineseDai 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. 2010Several 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...
- Identification of a novel vertebrate homeobox gene expressed in haematopoietic cellsM R Crompton
Chester Beatty Laboratories, Institute of Cancer Research, London, UK
Nucleic Acids Res 20:5661-7. 1992This 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...
- Differential expression of a novel proline-rich homeobox gene (Prh) in human hematolymphopoietic cellsG Manfioletti
Dipartimento di Biochimica, Biofisica Chimica delle Macromolecole, Universita di Trieste, Italy
Blood 85:1237-45. 1995Proline-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...
- HEX: a novel homeobox gene expressed during haematopoiesis and conserved between mouse and humanF 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)...
- Expression and function of the homeodomain-containing protein Hex in thyroid cellsL Pellizzari
Dipartimento di Scienze e Tecnologie Biomediche, Universita di Udine, Italy
Nucleic Acids Res 28:2503-11. 2000The 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...
- Functional interaction of Jun and homeodomain proteinsL 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 ..
- Genomic organization and chromosome mapping of the human homeobox gene HHEXM Morgutti
Servizio di Genetica Medica, IRCCS Burlo Garofalo, Trieste, Italy
Cytogenet Cell Genet 94:30-2. 2001In 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...
- Expression and localization of the homeodomain-containing protein HEX in human thyroid tumorsAngela 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 ..
- The proline-rich homeodomain protein, PRH, is a tissue-specific inhibitor of eIF4E-dependent cyclin D1 mRNA transport and growthIvan 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 ..
- The transcriptional repressor protein PRH interacts with the proteasomeKirstin L Bess
Department of Biochemistry, University of Bristol, University Walk, Bristol BS81TD, UK
Biochem J 374:667-75. 2003PRH (proline-rich homeodomain protein)/Hex is important in the control of cell proliferation and differentiation...
- The homeobox gene Hex induces T-cell-derived lymphomas when overexpressed in hematopoietic precursor cellsAlex 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...
- Interaction between hex and GATA transcription factors in vascular endothelial cells inhibits flk-1/KDR-mediated vascular endothelial growth factor signalingTakashi 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...
- Oligomerisation of the developmental regulator proline rich homeodomain (PRH/Hex) is mediated by a novel proline-rich dimerisation domainAbdenour 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...
- A genome-wide association study identifies novel risk loci for type 2 diabetesRobert 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)...
- Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levelsRicha 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...
- A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variantsLaura 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...
- Variation in the HHEX-IDE gene region predisposes to type 2 diabetes in the prospective, population-based EPIC-Potsdam cohortM B Schulze
Diabetologia 50:2405-7. 2007
- Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell functionLaura 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...
- 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 studiesNiels 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 ..
- Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese populationM 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 ..
- A candidate type 2 diabetes polymorphism near the HHEX locus affects acute glucose-stimulated insulin release in European populations: results from the EUGENE2 studyHarald Staiger
Internal Medicine IV, Medical Clinic Tübingen, Otfried Muller Str 10, D 72076 Tubingen, Germany
Diabetes 57:514-7. 2008In 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...
- Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese populationShintaro 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....
- Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. studyStephane 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)...
- HHEX gene polymorphisms are associated with type 2 diabetes in the Dutch Breda cohortJana 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. 2008Recently, 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...
- Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetesEleftheria 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...
- Leukemogenic mechanisms and targets of a NUP98/HHEX fusion in acute myeloid leukemiaDragana 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)...
- Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive valueStephane 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...
- Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 AsiansMaggie 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...
- Replication of genome-wide association studies of type 2 diabetes susceptibility in JapanYukio 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.
- Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes riskHana 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...
- Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant riskDharambir 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 ..
- 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 populationYing 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. 2008Genome-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...
- Beta cell glucose sensitivity is decreased by 39% in non-diabetic individuals carrying multiple diabetes-risk alleles compared with those with no risk allelesL 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...
- DNA wrapping and distortion by an oligomeric homeodomain proteinHannah 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 ..
- Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean populationYong 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...
- 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 IndiansRong 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. 2009In 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...
- Clinical risk factors, DNA variants, and the development of type 2 diabetesValeriya 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...
- Replication study of candidate genes associated with type 2 diabetes based on genome-wide screeningYasuharu 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.
- Association between insulin secretion, insulin sensitivity and type 2 diabetes susceptibility variants identified in genome-wide association studiesStephanie 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 ..
- The influence of genetic variations in HHEX gene on insulin metabolism in the German MESYBEPO cohortOlga 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)...
- Risk prediction of prevalent diabetes in a Swiss population using a weighted genetic score--the CoLaus StudyX Lin
Discovery Analytics, GlaxoSmithKline, Collegeville, PA, USA
Diabetologia 52:600-8. 2009....
- The risk allele load accelerates the age-dependent decline in beta cell functionA 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. 2009Among the novel type 2 diabetes risk loci identified by genome-wide association studies, TCF7L2, HHEX, SLC30A8 and CDKAL1 appear to affect beta cell function...
- Interaction between prenatal growth and high-risk genotypes in the development of type 2 diabetesN 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.
- Type 2 diabetes risk alleles are associated with reduced size at birthRachel 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...
- CK2 phosphorylation of the PRH/Hex homeodomain functions as a reversible switch for DNA bindingAbdenour Soufi
Institute for Biomedical Research, Birmingham University Medical School, Edgbaston, Birmingham, B15 2TT, UK
Nucleic Acids Res 37:3288-300. 2009The 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...
- Joint effects of common genetic variants on the risk for type 2 diabetes in U.S. men and women of European ancestryMarilyn 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...
- 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 menAlena 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...
- Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight geneJianhua 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...
- HHEX-IDE polymorphism is associated with low birth weight in offspring with a family history of type 1 diabetesChristiane 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.
- PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese populationCheng 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...
- Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMIJianhua 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...
- Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family StudyS 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....
- Impact of common variants of PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 on the risk of type 2 diabetes in 5,164 IndiansGanesh Chauhan
Functional Genomics Unit, Institute of Genomics and Integrative Biology CSIR, Delhi, India
Diabetes 59:2068-74. 2010Common 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...
- Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese populationYing 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 ..
- Replication of recently described type 2 diabetes gene variants in a South Indian populationManickam 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...
- A validation study of type 2 diabetes-related variants of the TCF7L2, HHEX, KCNJ11, and ADIPOQ genes in one endogamous ethnic group of north IndiaVipin Gupta
South Asia Network for Chronic Disease, Public Health Foundation of India, Delhi 110016
Ann Hum Genet 74:361-8. 2010The 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 ..
- Quantitative assessment of the influence of hematopoietically expressed homeobox variant (rs1111875) on type 2 diabetes riskYudong 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. 2011Hematopoietically 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 ..
- Meta-analysis of the effect of HHEX gene polymorphism on the risk of type 2 diabetesYu 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...
- Heterogeneity of genetic associations of CDKAL1 and HHEX with susceptibility of type 2 diabetes mellitus by genderHyunju 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 (..
- Association of genetic variations in TCF7L2, SLC30A8, HHEX, LOC387761, and EXT2 with Type 2 diabetes mellitus in TunisiaChamseddine 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. 2011In recent genome-wide association studies, genetic variants in TCF7L2, SLC30A8, HHEX, LOC387761, and EXT2 were associated with risk for type 2 diabetes mellitus (T2DM)...
- PCR cloning of an orphan homeobox gene (PRH) preferentially expressed in myeloid and liver cellsR 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, ..
- ZD1542, a potent thromboxane A2 synthase inhibitor and receptor antagonist in vitroR 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...
- [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-..
- II. Characterization and development of the regional- and cellular-specific abnormalities in the epididymis of mice with beta-hexosaminidase A deficiencyH I Adamali
Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, Canada
J Androl 20:803-24. 1999Beta-hexosaminidase (Hex) is a lysosomal enzyme that exists as two isoenzymes: Hex A (subunit structure alphabeta) and Hex B (betabeta)...
- 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...
- The four hexamerin genes in the honey bee: structure, molecular evolution and function deduced from expression patterns in queens, workers and dronesJuliana 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....
- 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...
- Nicotine activates cell-signaling pathways through muscle-type and neuronal nicotinic acetylcholine receptors in non-small cell lung cancer cellsDiane 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...
- Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseasesJ 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...
- Enhanced transglucosylation/hydrolysis ratio of mutants of Pyrococcus furiosus beta-glucosidase: effects of donor concentration, water content, and temperature on activity and selectivity in hexanolT 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 ..
- [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.
- [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...
- Kidney sulfatides in mouse models of inherited glycosphingolipid disorders: determination by nano-electrospray ionization tandem mass spectrometryRoger 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...
- Antinociceptive effect of Zanthoxylum rhoifolium Lam. (Rutaceae) in models of acute pain in rodentsS 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.
- Effects of ganglionic blocking agents on behavioral responses to centrally administered CRFD R Britton
University of Health Sciences Chicago Medical School, IL
Brain Res 478:205-10. 1989The 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)...
- A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff diseaseY 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...
- Mutations that confer resistance to 2-deoxyglucose reduce the specific activity of hexokinase from Myxococcus xanthusP 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...
- Biochemical characterization of the GM2 gangliosidosis B1 variantJ C Tutor
Laboratorio Central, Hospital Clinico Universitario, Santiago de Compostela, Spain
Braz J Med Biol Res 37:777-83. 2004The 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 ..
- Effects of bovine polymerized hemoglobin on coagulation in controlled hemorrhagic shock in swineFrancoise 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...
- 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-subunitI 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...
- TRANSCRIPTIONAL CONTROL OF PANCREATIC DEVELOPMENTKlaus 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)...
- Molecular genetic control of the immature female mosquito vectorHelen 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)...
- GM2 Gangliosidosis Therapy Using Neurotropic EnzymeKostantin 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...
- 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...
- Novel multivalent/multifunctional agents derived from a humanized anti-insulin-liThomas M Cardillo; Fiscal Year: 2010..The resulting hexavalent hR1 reagent (Hex-hR1) will be composed of hR1 IgG linked to four hR1 Fabs...
- Generation of monoclonal and polyclonal antibodies to neolacto-series gangliosideAmjad 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...
- Emotional learning-induced changes of neuronal representations in the hippocampalAlmira 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)...
- Longitudinal Imaging of Frontal Cortex Afferents in a Mouse Model of AnxietyLINDA 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 ..
- GLYCOSPHINGOLIPIDS IN MURINE NEURODEGENERATIVE DISEASESThomas N Seyfried; Fiscal Year: 2012..The studies will be largely conducted in [unreadable]-gal -/-, and Hex[unreadable] -/- mice that accumulate GM1 and GM2, respectively...
- AAV-mediated gene therapy for GM2-gangliodosesMIGUEL S ESTEVES; Fiscal Year: 2012..lysosomal storage diseases resulting from deficient activity of the enzyme yS-N-acetlyhexosaminidase (Hex)...
- 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 ..
- A Phase l Study of Pyrimethamine in patients with GM-2 GangliosidosisBijan Almassian; Fiscal Year: 2007..TSD) and Sandhoff disease (SD) result from a deficiency of lysosomal heterodimeric [unreadable]-hexosaminidase A (Hex A, a[unreadable])...
- Design and Study of New Nicotinic Analogs for Use in DepressionALAN 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...
- HEX EXPRESSION AND REGULATION IN DEVELOPING LUNGCLIFFORD 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 ..
- LUNG INFLAMMATIONGerald 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 ..
- AIRWAY MYOCYTE PROLIFERATION AND LYSOSOMAL HYDROLASEDUKHEE 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 ..
- DNA MISMATCH REPAIR IN TRANSFORMATION AND MUTAGENESISSanford Lacks; Fiscal Year: 1991..A number of chromosomal mutations, called hex, block action of the repair system...
- REGULATION OF SEX-SPECIFIC CHEMOSENSITIVITYMARC 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...
- Molecular Genetic Basis of Mouse B Cell LymphomaMonica Justice; Fiscal Year: 2005..Two genes proximal to Lvisl are misexpressed: the hematopoietic homeobox gene, Hex, and a kinesin-related spindle protein, Eg5...
- MOLECULAR MECHANISMS OF PML MEDIATED GROWTH CONTROLKATHERINE 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...
- DEVELOPMENT OF NOCICEPTIN-BASED ANALGESICSAMRIT 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...
- The Role of the Homeobox Gene Hex in Hematopoietic DifferentiationHelicia Paz; Fiscal Year: 2009..The hematopoietically expressed homeobox gene, Hex, is an interesting candidate gene in the study of early hematopoietic differentiation...
- REGULATION OF CARDIAC MYOGENESISPARKER 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...
- The Homeoprotein Hex Regulates Hemangioblast DifferentiationRobert 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...
- Methylphenidate & gene expression in the rat brain.JOAN BAIZER; Fiscal Year: 2004..abstract_text> ..
- Hhex-a Homeobox Gene Necessary for Liver DevelopmentClifford W Bogue; Fiscal Year: 2010DESCRIPTION (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...
- Hex - a Homeobox Gene Essential for Liver DevelopmentCLIFFORD BOGUE; Fiscal Year: 2007Both 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)...
- Soyfood, gene polymorphisms and endometrial cancer riskXiao Ou Shu; Fiscal Year: 2010..abstract_text> ..
- BIOLOGICAL STUDIES OF PIPERIDINE ANALOGS OF COCAINEAlan 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. ..
- MALIGNANT GERM CELL TUMORS IN CHILDRENXiao Shu; Fiscal Year: 2001..The relatively large sample size will provide sufficient statistical power to address the hypotheses being investigated. ..
- GLYCOPROTEIN HORMONE BIOSYNTHESIS AND ACTIONJOEL HABENER; Fiscal Year: 2002..These studies have potential relevance to understanding the molecular mechanisms controlling spermatogenesis and fertility. ..
- PANCREATIC ISLET-DERIVED STEM CELLSJOEL 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. ..
- TRANSCRIPTION FACTORS AND THE ENDOCRINE PANCREASJOEL HABENER; Fiscal Year: 2003....
- NEURONAL FUNCTION IN CRANIOFACIAL DEVELOPMENTStephanos Kyrkanides; Fiscal Year: 2004..abstract_text> ..
- Gene therapy for treatment of craniofacial dysplasiaStephanos 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 ..
- Early T cell checkpoint violation in NOD miceMary 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. ..
- CHEMICAL AND PHARMACOLOGICAL STUDIES OF COCAINE ANALOGSAlan Kozikowski; Fiscal Year: 2004....
- DESIGN OF LIGANDS SELECTIVE FOR THE DAG SUPERFAMILYAlan 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. ..
- Phenotype-Genotype Interactions and Type 2 DiabetesJames Meigs; Fiscal Year: 2005..Results will provide a foundation for future laboratory efforts and will increase understanding of phenotype-genotype interactions in diabetes pathogenesis. ..
- Recombinant FIV vectors for the delivery of siRNA therapy to jointsStephanos Kyrkanides; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- Breast Cancer Survival: Lifestyle and Genetic DeterminantsXiao Ou Shu; Fiscal Year: 2010..The proposed study, built on successfully implemented cohort studies, will be extremely timely and cost-efficient. ..
- Chemistry and Biology of 5-HT2C Receptor Ligands for Drug AbuseALAN PAUL KOZIKOWSKI; Fiscal Year: 2010....
- Comparison of LCD vs CRT displays for mammographyDavid Channin; Fiscal Year: 2006..The knowledge garnered under the auspices of this project will help further advance our understanding of optimized medical image display. ..
- Joint degeneration: Somatic mosaic analysis in a transgenic mouseStephanos Kyrkanides; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- Chemistry and Pharmacology of a New Nicotine LigandsAlan Kozikowski; Fiscal Year: 2007..Functional activity will be evaluated using established 86RbC1 efflux assays and/or whole cell patch clamp measurements. ..
- Long-Term Neural Determinants of Cardiovascular DiseasesJohn Osborn; Fiscal Year: 2009..abstract_text> ..
- Soy Food and Coronary Heart Disease in WomenXiao Ou Shu; Fiscal Year: 2008....
- PKC Modulators for the Treatment of Alzheimer's diseaseAlan 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. ..
- Does peripheral localized chronic inflammation predispose to neurodegeneration?Stephanos Kyrkanides; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- NEURAL MECHANISMS OF LONG-TERM CARDIOVASCULAR CONTROLJohn 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]..
- GLUCAGON BIOSYNTHESIS AND METABOLISMJOEL HABENER; Fiscal Year: 2008....