Genomes and Genes
Gene Symbol: Hprt
Description: hypoxanthine guanine phosphoribosyl transferase
Alias: C81579, HPGRT, Hprt1, hypoxanthine-guanine phosphoribosyltransferase, HGPRT, HGPRTase, HPRT B, hypoxanthine guanine phosphoribosyl transferase 1
Publications136 found, 100 shown here
- Oxidative stress and dopamine deficiency in a genetic mouse model of Lesch-Nyhan diseaseJasper E Visser
Department of Neurology, Meyer 6 181, Johns Hopkins Hospital, Baltimore, MD 21287, USA
Brain Res Dev Brain Res 133:127-39. 2002..Overall, these data provide evidence for increased oxidative stress, but the failure to protect the knockout mice by over-expressing SOD1 argues that oxidative stress is not the sole process responsible for the loss of striatal dopamine...
- A new positive/negative selectable marker, puDeltatk, for use in embryonic stem cellsY T Chen
Program in Developmental Biology, Baylor College of Medicine, Houston, Texas 77030, USA
Genesis 28:31-5. 2000..Unlike other HSV1 tk transgenes, puDeltatk is readily transmitted through the male germ line. Thus pu(Delta)tk is a convenient positive/negative selectable marker that can be widely used in many ES cell applications...
- A Cre/loxP-deleter transgenic line in mouse strain 129S1/SvImJShih Huey E Tang
Division of Biology, Beckman Research Institute of the City of Hope, Duarte, California 91010 3011, USA
Genesis 32:199-202. 2002A Cre recombinase expression cassette was inserted into the X-linked Hprt locus by gene targeting in a mouse embryonic stem (ES) cell line isogenic to strain 129S1/SvImJ (129S1), then the transgene was introduced into 129S1 mice through ..
- Kalirin-7 is required for synaptic structure and functionXin Ming Ma
Department of Neuroscience, University of Connecticut Health Center, Farmington, Connecticut 06030, USA
J Neurosci 28:12368-82. 2008..Expression of exogenous Kal7 in Kal7(KO) neurons rescued this deficit. Kal7 plays an essential role in synaptic structure and function, affecting a subset of cognitive processes...
- Hypoxia promotes fibrogenesis in vivo via HIF-1 stimulation of epithelial-to-mesenchymal transitionDebra F Higgins
Department of Medicine, Renal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
J Clin Invest 117:3810-20. 2007....
- The BMP antagonist follistatin-like 1 is required for skeletal and lung organogenesisMarc Sylva
Heart Failure Research Center, Academic Medical Center, Amsterdam, The Netherlands
PLoS ONE 6:e22616. 2011..Taken together, these observations show that Fstl1 is a crucial regulator in BMP signalling during mouse development...
- Equilibrative nucleoside transporter 1 (ENT1) regulates postischemic blood flow during acute kidney injury in miceAlmut Grenz
Mucosal Inflammation Program, Department of Anesthesiology, School of Medicine, University of Colorado Denver, Anschutz Medical Campus, Aurora, Colorado, USA
J Clin Invest 122:693-710. 2012..These studies identify ENT1 and adenosine receptors as key to the process of reestablishing renal perfusion following ischemic AKI. If translatable from mice to humans, these data have important therapeutic implications...
- The Down syndrome critical region gene 1 short variant promoters direct vascular bed-specific gene expression during inflammation in miceTakashi Minami
Research Center for Advanced Science and Technology, University of Tokyo, Tokyo, Japan
J Clin Invest 119:2257-70. 2009..of the human DSCR1s promoter coupled to the lacZ reporter to the hypoxanthine guanine phosphoribosyl transferase (Hprt) locus of mice...
- Amphetamine-induced behavioral phenotype in a hypoxanthine-guanine phosphoribosyltransferase-deficient mouse model of Lesch-Nyhan syndromeH A Jinnah
Department of Neurosciences, School of Medicine, University of California, San Diego 92093 0634
Behav Neurosci 105:1004-12. 1991In humans, congenital deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) results in a disorder known as the Lesch-Nyhan syndrome...
- Animal models of Lesch-Nyhan syndromeH A Jinnah
Department of Neurosciences, UCSD School of Medicine, La Jolla 92093
Brain Res Bull 25:467-75. 1990In humans, deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) is associated with a disorder known as Lesch-Nyhan syndrome which includes severe neurobehavioral abnormalities...
- Germ line transmission and expression of a corrected HPRT gene produced by gene targeting in embryonic stem cellsS Thompson
Department of Molecular Biology, University of Edinburgh, Scotland
Cell 56:313-21. 1989The deletion mutation in the HPRT-deficient mouse embryonic stem (ES) cell line E14TG2a has been corrected by gene targeting. The presence of plasmid sequences in the correcting vector DNA did not affect the frequency of correction...
- A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into miceM R Kuehn
Nature 326:295-8. 1987..deficiency in the level of activity of the purine salvage enzyme hypoxanthine-guanosine phosphoribosyl transferase (HPRT)...
- Behavioral and neurochemical evaluation of a transgenic mouse model of Lesch-Nyhan syndromeS Finger
Department of Experimental Psychology, University of Cambridge, U K
J Neurol Sci 86:203-13. 1988Two transgenic strains of mutant mice lacking hypoxanthine-guanidine phosphoribosyltransferase (HPRT) activity were examined behaviorally and neurochemically for phenotypic similarity to the human Lesch-Nyhan syndrome...
- HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cellsM Hooper
Nature 326:292-5. 1987..by the selection in vitro of variant ES cells deficient in hypoxanthine guanine phosphoribosyl transferase (HPRT; EC 2.4.2...
- Dopamine deficiency in a genetic mouse model of Lesch-Nyhan diseaseH A Jinnah
Department of Neurosciences, University of California San Diego School of Medicine, La Jolla 92093
J Neurosci 14:1164-75. 1994..a deletion mutation in the gene encoding the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT)...
- HPRT-APRT-deficient mice are not a model for lesch-nyhan syndromeS J Engle
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202 5251, USA
Hum Mol Genet 5:1607-10. 1996Complete hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency in humans results in the Lesch-Nyhan syndrome which is characterized, among other features, by compulsive self-injurious behavior...
- Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan diseaseH A Jinnah
Department of Neurology, Johns Hopkins Hospital, Baltimore, Maryland 21287, USA
J Neurochem 72:225-9. 1999..disorder caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT)...
- A system for rapid generation of coat color-tagged knockouts and defined chromosomal rearrangements in miceB Zheng
Department of Molecular and Human Genetics and Howard Hughes Medical Institute, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX 77030, USA
Nucleic Acids Res 27:2354-60. 1999..By incorporating mouse coat color markers into the vectors, we illustrate a widely applicable method for stock maintenance of ES cell-derived mice with single gene knockouts or more extensive chromosomal rearrangements...
- Appropriate tissue- and cell-specific expression of a single copy human angiotensinogen transgene specifically targeted upstream of the HPRT locus by homologous recombinationB Cvetkovic
Molecular Biology Interdisciplinary Program, The University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
J Biol Chem 275:1073-8. 2000..angiotensinogen transgenic mouse model generated by targeting the human angiotensinogen gene upstream of the mouse HPRT locus by homologous recombination...
- Targeting the Hprt locus in mice reveals differential regulation of Tie2 gene expression in the endotheliumV Evans
Massachusetts Institute of Technology, Department of Biology, Cambridge, Massachusetts 02139, USA
Physiol Genomics 2:67-75. 2000..To study the in vivo expression of the murine Tie2 gene, we have targeted the hypoxanthine phosphoribosyltransferase (Hprt) gene locus to generate two single-copy transgenic mice: T1, containing the 2,100-bp Tie2 promoter upstream from ..
- Targeting of human eNOS promoter to the Hprt locus of mice leads to tissue-restricted transgene expressionP V Guillot
Beth Israel Deaconess Medical Center, Department of Molecular Medicine, Boston 02215, USA
Physiol Genomics 2:77-83. 2000..synthase (eNOS) promoter coupled to the LacZ reporter gene to the X-linked hypoxanthine phosphoribosyltransferase (Hprt) locus of mice by homologous recombination...
- A targeted X-linked CMV-Cre lineHong Su
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Genesis 32:187-8. 2002
- Differential regulation of the von Willebrand factor and Flt-1 promoters in the endothelium of hypoxanthine phosphoribosyltransferase-targeted miceTakashi Minami
Department of Molecular Medicine, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA
Blood 100:4019-25. 2002..of 2 different genes, namely von Willebrand factor (VWF) and Flt-1, to the hypoxanthine phosphoribosyltransferase (Hprt) gene locus...
- Tissue-specific expression of a BAC transgene targeted to the Hprt locus in mouse embryonic stem cellsJason D Heaney
Department of Cellular and Molecular Physiology, The Pennsylvania State University College of Medicine H166, 500 University Drive, Hershey, PA 17033 0850, USA
Genomics 83:1072-82. 2004The hypoxanthine phosphoribosyltransferase (Hprt) locus has been shown to have minimal influence on transgene expression when used as a surrogate site in the mouse genome...
- In vivo pattern of lipopolysaccharide and anti-CD3-induced NF-kappa B activation using a novel gene-targeted enhanced GFP reporter gene mouseScott T Magness
Department of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA
J Immunol 173:1561-70. 2004..In summary, the cis-NF-kappa B(EGFP) mouse will serve as a valuable tool to address multiple questions regarding the cell-specific and real-time activation of NF-kappa B during normal and diseased states...
- Mosaic analysis with double markers in miceHui Zong
Department of Biological Sciences, Stanford University, Stanford, CA 94305, USA
Cell 121:479-92. 2005..To illustrate the utility of MADM, we show that cerebellar granule cell progenitors are fated at an early stage to produce granule cells with axonal projections limited to specific sublayers of the cerebellar cortex...
- A Golgi study of neuronal architecture in a genetic mouse model for Lesch-Nyhan diseaseIvan Mikolaenko
Department of Neurology, Meyer Room 6 181, Johns Hopkins Hospital, Baltimore, MD 21287, USA
Neurobiol Dis 20:479-90. 2005..LND) is an inherited disorder associated with deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT), an enzyme essential for purine recycling...
- Renal cyst development in mice with conditional inactivation of the von Hippel-Lindau tumor suppressorErinn B Rankin
Department of Medicine and Cell and Molecular Biology Graduate Group, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6144, USA
Cancer Res 66:2576-83. 2006....
- Mutagenesis in mice of nuclear hormone receptor binding sites in the Igf2/H19 imprinting control regionP E Szabo
Division of Biology, Beckman Research Institute of the City of Hope, Duarte, CA 91010 3011, USA
Cytogenet Genome Res 113:238-46. 2006..No effect was obtained--in the female and male germ lines the mutant ICR remained hypomethylated and hypermethylated, respectively. The ICR imprinting mechanism remains undefined...
- Transgenic mice expressing the p75 CCAAT-displacement protein/Cut homeobox isoform develop a myeloproliferative disease-like myeloid leukemiaChantal Cadieux
Molecular Oncology Group, McGill University Health Center, Department of Biochemistry, McGill University, Montreal, Quebec, Canada
Cancer Res 66:9492-501. 2006..The transgene was introduced into the hprt locus of 129/Ola embryonic stem cells and, following germ line passage, was backcrossed onto the FVB and C57BL/6 ..
- Modeling sporadic loss of heterozygosity in mice by using mosaic analysis with double markers (MADM)Mandar Deepak Muzumdar
Howard Hughes Medical Institute and Department of Biological Sciences, Stanford University, Stanford, CA 94305, USA
Proc Natl Acad Sci U S A 104:4495-500. 2007..These studies establish MADM as a high-resolution method for modeling sporadic loss of heterozygosity in mice, providing insights into TSG function...
- Gnotobiotic IL-10-/-;NF-kappa B(EGFP) mice reveal the critical role of TLR/NF-kappa B signaling in commensal bacteria-induced colitisThomas Karrasch
Department of Medicine and Center for Gastrointestinal Biology and Disease, University of North Carolina, Chapel Hill, NC 27510, USA
J Immunol 178:6522-32. 2007..Blocking TLR-induced NF-kappaB activity may represent an attractive strategy to treat immune-mediated intestinal inflammation...
- The mouse polyubiquitin gene UbC is essential for fetal liver development, cell-cycle progression and stress toleranceKwon Yul Ryu
Department of Biological Sciences, Stanford University, Stanford, CA 94305 5020, USA
EMBO J 26:2693-706. 2007..can be rescued by providing additional Ub from a poly hemagglutinin-tagged Ub minigene expressed from the Hprt locus. We propose that UbC is regulated by a process that senses Ub pool dynamics...
- Toward simpler and faster genome-wide mutagenesis in miceSen Wu
Howard Hughes Medical Institute, University of Utah, Salt Lake City, Utah 84112, USA
Nat Genet 39:922-30. 2007....
- A global double-fluorescent Cre reporter mouseMandar Deepak Muzumdar
Howard Hughes Medical Institute, Stanford University, Stanford, California 94305, USA
Genesis 45:593-605. 2007..In addition to serving as a global Cre reporter, the mT/mG mouse may also be used as a tool for lineage tracing, transplantation studies, and analysis of cell morphology in vivo...
- Consequences of impaired purine recycling in dopaminergic neuronsJ C Lewers
Department of Neurology, Meyer Room 6 181, 600 North Wolfe Street, Johns Hopkins University, Baltimore, MD 21287, USA
Neuroscience 152:761-72. 2008..or mice with inherited defects of the purine recycling enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), the most prominent defect is loss of basal ganglia dopamine...
- Temporally controlled prostate epithelium-specific gene alterationsH Artee Luchman
Department of Biochemistry and Molecular Biology, The McCaig Institute for Bone and Joint Health, University of Calgary, Calgary, Alberta, Canada
Genesis 46:229-34. 2008Employing the Hprt locus as the site for targeted transgenesis we have developed mice expressing the tamoxifen-inducible Cre-ER(T2) fusion protein under the control of the ARR2-rat probasin promoter...
- SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivationMarnie E Blewitt
The Division of Molecular Medicine, Walter and Eliza Hall Institute of Medical Research, Melbourne, and The Department of Medical Biology, The University of Melbourne, VIC 3050, Australia
Nat Genet 40:663-9. 2008..MommeD1 shows homozygous female-specific mid-gestation lethality and hypomethylation of the X-linked gene Hprt1, suggestive of a defect in X inactivation...
- Generation of mice with conditionally activated transforming growth factor beta signaling through the TbetaRI/ALK5 receptorLaurent Bartholin
INSERM, U590, INSERM Avenirgroup, Oncogenèse et progression tumorale, Centre Leon Berard, 28 rue Laennec, Lyon Cedex 08, France
Genesis 46:724-31. 2008..TbetaRI/ALK5) by using a knock-in strategy into the X chromosome-linked hypoxanthine phosphoribosyl-transferase (Hprt) locus...
- Next generation tools for high-throughput promoter and expression analysis employing single-copy knock-ins at the Hprt1 locusG S Yang
Canada s Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia, Canada
Genomics 93:196-204. 2009..engineered a set of useful tools that facilitate targeted single copy knock-in (KI) at the hypoxanthine guanine phosphoribosyl transferase 1 (Hprt1) locus...
- Targeted transgenesis at the HPRT locus: an efficient strategy to achieve tightly controlled in vivo conditional expression with the tet systemG Palais
Institut National de la Sante et de la Recherche Medicale INSERM, U772, Paris, France
Physiol Genomics 37:140-6. 2009..stem (ES) cell line supporting efficient germ-line transmission, we used hypoxanthine phosphoribosyltransferase (HPRT) targeting to insert a single copy tet-inducible construct designed to allow both glucocorticoid receptor (GR) and ..
- Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesisIrene Ceballos-Picot
School of Medicine, Paris Descartes University, 75006 Paris, France
Hum Mol Genet 18:2317-27. 2009Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency results in Lesch-Nyhan disease (LND), where affected individuals exhibit a characteristic neurobehavioral disorder that has been linked with dysfunction of dopaminergic ..
- Mouse mammary tumor virus p75 and p110 CUX1 transgenic mice develop mammary tumors of various histologic typesChantal Cadieux
Goodman Cancer Centre and Department of Biochemistry, McGill University, Montreal, Quebec, Canada
Cancer Res 69:7188-97. 2009..of these short CUX1 isoforms in driving mammary tumor development, we used site-specific transgenesis into the Hprt locus to generate transgenic mice expressing p75 or p110 CUX1 under the control of the mouse mammary tumor virus-..
- Targeted deletion of Dicer from proximal tubules protects against renal ischemia-reperfusion injuryQingqing Wei
Department of Cellular Biology and Anatomy, Medical College of Georgia and Charlie Norwood VA Medical Center, Augusta, GA 30912, USA
J Am Soc Nephrol 21:756-61. 2010..Microarray analysis showed altered expression of specific microRNAs during renal IRI. Taken together, these results demonstrate evidence for a pathogenic role of Dicer and associated microRNAs in renal IRI...
- Conversion of adult pancreatic alpha-cells to beta-cells after extreme beta-cell lossFabrizio Thorel
Department of Cell Physiology and Metabolism, University of Geneva Faculty of Medicine, 1 rue Michel Servet, CH 1211 Geneva 4, Switzerland
Nature 464:1149-54. 2010..Such inter-endocrine spontaneous adult cell conversion could be harnessed towards methods of producing beta-cells for diabetes therapies, either in differentiation settings in vitro or in induced regeneration...
- A regulatory toolbox of MiniPromoters to drive selective expression in the brainElodie Portales-Casamar
Centre for Molecular Medicine and Therapeutics at the Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada V5Z4H4
Proc Natl Acad Sci U S A 107:16589-94. 2010..knockins" in embryonic stem cells, each MiniPromoter reporter is integrated immediately 5' of the Hprt locus in the mouse genome...
- A regulatory archipelago controls Hox genes transcription in digitsThomas Montavon
National Research Centre, Frontiers in Genetics, School of Life Sciences, Ecole Polytechnique Federale, Lausanne, Switzerland
Cell 147:1132-45. 2011....
- Retina restored and brain abnormalities ameliorated by single-copy knock-in of human NR2E1 in null miceJ F Schmouth
Centre for Molecular Medicine and Therapeutics at the Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada
Mol Cell Biol 32:1296-311. 2012..This is the first time a separation of regulatory mechanisms governing NR2E1 has been demonstrated. Furthermore, candidate genomic regions controlling expression in proliferating cells during neurogenesis were identified...
- The role of sphingosine-1-phosphate transporter Spns2 in immune system functionAnastasia Nijnik
Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, United Kingdom
J Immunol 189:102-11. 2012..Other components of the S1P signaling network are investigated as drug targets for immunosuppressive therapy, but the selective action of Spns2 may present an advantage in this regard...
- Novel role of the IGF-1 receptor in endothelial function and repair: studies in endothelium-targeted IGF-1 receptor transgenic miceHelen Imrie
Division of Cardiovascular and Diabetes Research, Multidisciplinary Cardiovascular Research Centre, University of Leeds, Leeds, UK
Diabetes 61:2359-68. 2012..The IGF-1R, although reducing NO bioavailability, enhances in situ endothelium regeneration. Manipulating IGF-1R in the endothelium may be a useful strategy to treat disorders of vascular growth and repair...
- An olfactory subsystem that mediates high-sensitivity detection of volatile aminesRodrigo Pacifico
Department of Neurobiology, Northwestern University, Evanston, IL 60208, USA
Cell Rep 2:76-88. 2012..Our data uncover a hard-wired, parallel input stream in the main olfactory pathway that is specialized for the detection of volatile amines...
- Impact of copy number variations (CNVs) on long-range gene regulation at the HoxD locusThomas Montavon
National Research Centre Frontiers in Genetics, School of Life Sciences, Ecole Polytechnique Federale, 1015 Lausanne, Switzerland
Proc Natl Acad Sci U S A 109:20204-11. 2012..These results illustrate the detrimental consequences of interrupting highly conserved regulatory landscapes and reveal a mechanism where genomic duplications lead to partial loss of function of nearby located genes...
- Conditional allelic replacement applied to genes encoding the histone variant H3.3 in the mouseMichelle C W Tang
Theme of Genetic Disorders, Murdoch Childrens Research Institute, The Royal Children s Hospital, Victoria, 3052, Australia
Genesis 51:142-6. 2013..3 protein. Such vectors will allow for the conditional substitution of specific residues in order to dissect the roles of H3.3 post-translational modifications in development and disease...
- An integrated holo-enhancer unit defines tissue and gene specificity of the Fgf8 regulatory landscapeMirna Marinić
Developmental Biology Unit, EMBL, Meyerhofstrasse 1, Heidelberg 69117, Germany
Dev Cell 24:530-42. 2013..We discuss the implications of such regulatory systems regarding the evolution of gene expression and the impact of human genomic structural variations...
- A switch between topological domains underlies HoxD genes collinearity in mouse limbsGuillaume Andrey
School of Life Sciences, Federal Institute of Technology, Lausanne, 1015 Lausanne, Switzerland
Science 340:1234167. 2013..This regulatory strategy accounts for collinear Hox gene regulation in land vertebrate appendages...
- Deficiency of the purine metabolic gene HPRT dysregulates microRNA-17 family cluster and guanine-based cellular functions: a role for EPAC in Lesch-Nyhan syndromeGhiabe Henri Guibinga
Department of Pediatrics, Division of Genetics Rady Children s Hospital and
Hum Mol Genet 22:4502-15. 2013..by mutations in the gene encoding the purine metabolic enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT)...
- Single-copy transgenic mice with chosen-site integrationS K Bronson
Department of Pathology, University of North Carolina, Chapel Hill 27599 7525, USA
Proc Natl Acad Sci U S A 93:9067-72. 1996..In vitro and in vivo, the human beta-actin promoter consistently directed a higher level of transgene expression than the chicken beta-actin promoter...
- A DNA insulator prevents repression of a targeted X-linked transgene but not its random or imprinted X inactivationDominic Ciavatta
Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA
Proc Natl Acad Sci U S A 103:9958-63. 2006..To test whether DNA insulators can act as boundaries on the X chromosome, we inserted into the mouse X-linked Hprt locus a GFP transgene flanked with zero, one, or two copies of a prototypic vertebrate insulator from the chicken ..
- A mouse model for monitoring calpain activity under physiological and pathological conditionsMarc Bartoli
Généthon CNRS UMR8115, 1 rue de l Internationale 91000 Evry, France
J Biol Chem 281:39672-80. 2006..Altogether, our results present evidence that CAFI mice could be a valuable tool in which to follow calpain activity at physiological levels and in disease states...
- The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arcPaul L Greer
Department of Neurobiology, Harvard Medical School, 220 Longwood Avenue, Boston, MA 02115, USA
Cell 140:704-16. 2010..We propose that this deregulation of AMPA receptor expression at synapses may contribute to the cognitive dysfunction that occurs in Angelman Syndrome and possibly other ASDs...
- Using targeted transgenic reporter mice to study promoter-specific p53 transcriptional activityAmanda M Goh
p53 Laboratory, Agency for Science, Technology, Singapore 138648
Proc Natl Acad Sci U S A 109:1685-90. 2012..5. The data from this study demonstrate that these reporter mice could serve as powerful tools to answer questions related to basic biology of the p53 pathway, as well as cancer therapy and drug discovery...
- Targeting of >1.5 Mb of human DNA into the mouse X chromosome reveals presence of cis-acting regulators of epigenetic silencingChristine Yang
Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences Institute, University of British Columbia, Vancouver, BC, V6T 1Z3, Canada
Genetics 192:1281-93. 2012..Knock-ins directed to the Mus musculus Hprt locus offer a unique opportunity to analyze the spread of silencing into different human DNA sequences in the ..
- Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severityKatharina Hopp
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota 55905, USA
J Clin Invest 122:4257-73. 2012..Altogether, this study highlights the role that in trans variants at the disease locus can play in phenotypic modification of dominant diseases and provides a truly orthologous PKD1 model, optimal for therapeutic testing...
- Acid sphingomyelinase-ceramide system mediates effects of antidepressant drugsErich Gulbins
Department of Molecular Biology, University of Duisburg Essen, Essen, Germany
Nat Med 19:934-8. 2013..The decrease of ceramide abundance achieved by antidepressant-mediated inhibition of Asm normalized these effects. Lowering ceramide abundance may thus be a central goal for the future development of antidepressants. ..
- Mapping pathological phenotypes in a mouse model of CDKL5 disorderElena Amendola
Mouse Biology Unit, European Molecular Biology Laboratory EMBL, Monterotondo, Italy
PLoS ONE 9:e91613. 2014..These findings identify physiological and molecular deficits in specific forebrain neuron populations as possible pathological substrates in CDKL5 disorder. ..
- Toll-like receptors 2 and 4 modulate the contractile response induced by serotonin in mouse ileum: analysis of the serotonin receptors involvedR Forcen
Departamento de Farmacología y Fisiología, Facultad de Veterinaria, Instituto de Investigación Sanitaria de Aragón IIS, Universidad de Zaragoza, Zaragoza, Spain
Neurogastroenterol Motil 27:1258-66. 2015..We evaluated the influence of TLR2 and TLR4 in the spontaneous contractions and serotonin (5-HT)-induced motor response in mouse ileum, and the 5-HT receptors involved...
- Generation of a mouse model for a conditional inactivation of Gtf2i alleleBadam Enkhmandakh
Center for Regenerative Medicine and Skeletal Development, Department of Reconstructive Sciences, University of Connecticut Health Center, Farmington, Connecticut
Genesis 54:407-12. 2016..Crossing the floxed line with the Hprt-Cre transgenic mice resulted in inactivation of Gtf2i in one-cell embryo...
- Conditional knockout of protein O-mannosyltransferase 2 reveals tissue-specific roles of O-mannosyl glycosylation in brain developmentHuaiyu Hu
Department of Neuroscience and Physiology, Upstate Medical University, Syracuse, New York 13210, USA
J Comp Neurol 519:1320-37. 2011..Thus, normal brain development requires protein O-mannosylation activity in neural tissue but not the meninges. These results suggest that gene therapy should be directed to the neural tissue instead of the meninges...
- Mutation of the dyslexia-associated gene Dcdc2 impairs LTM and visuo-spatial performance in miceL A Gabel
Department of Psychology, Lafayette College, Easton, PA 18042, USA
Genes Brain Behav 10:868-75. 2011..Dcdc2 mutant mice should prove useful in future studies designed to further dissect the underlying neural mechanisms that are impaired following Dcdc2 mutation...
- Nuclear receptor binding protein 1 regulates intestinal progenitor cell homeostasis and tumour formationCatherine H Wilson
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK
EMBO J 31:2486-97. 2012..Thus NRBP1 is a conserved regulator of cell fate, that plays an important role in tumour suppression...
- NF-κB inhibition delays DNA damage-induced senescence and aging in miceJeremy S Tilstra
Department of Microbiology and Molecular Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
J Clin Invest 122:2601-12. 2012..IKK/NF-κB inhibitors are sufficient to attenuate this damage and could provide clinical benefit for degenerative changes associated with accelerated aging disorders and normal aging...
- Reference genes in the developing murine brain and in differentiating embryonic stem cellsNadine Kraemer
Institute of Neuroanatomy and Cell Biology, Charite Universitatsmedizin Berlin, Germany
Neurol Res 34:664-8. 2012..The aim of the present study was to identify suitable reference genes for gene expression analysis in the developing murine brain neocortex in vivo and in mouse embryonic stem cells (mESC) throughout differentiation in vitro...
- Evaluation of reference genes for quantitative PCR analysis of mouse lymphocytesTina C Albershardt
Fred Hutchinson Cancer Research Center, Seattle, WA, USA
J Immunol Methods 384:196-9. 2012..We provide a shortlist of reference genes to use for normalization and recommend freely available software programs as a rapid approach to validate potential reference genes...
- The transformation suppressor gene Reck is required for postaxial patterning in mouse forelimbsMako Yamamoto
Department of Molecular Oncology Global COE Program
Biol Open 1:458-66. 2012..Our findings illustrate a role for Reck in the mesenchymal-epithelial interactions essential for mammalian development...
- The snail family gene snai3 is not essential for embryogenesis in miceCara K Bradley
Center for Molecular Medicine, Maine Medical Center Research Institute, Scarborough, Maine, United States of America
PLoS ONE 8:e65344. 2013..Snai3 null mutant homozygous mice are viable and fertile, and exhibit no obvious phenotypic defects. These results demonstrate that Snai3 gene function is not essential for embryogenesis in mice...
- Somatic cell genetic evidence for X-chromosome linkage of three enzymes in the mouseV M Chapman
Nature 259:665-7. 1976
- Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndromeH A Jinnah
Department of Neurosciences, University of California San Diego School of Medicine, La Jolla
J Pharmacol Exp Ther 263:596-607. 1992..caused by congenital deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT)...
- Altered turnover of allelic variants of hypoxanthine phosphoribosyltransferase is associated with N-terminal amino acid sequence variationG G Johnson
Department of Biology, San Diego State University, California 92182
J Biol Chem 263:9079-82. 1988..we also show that these amino acid substitutions are associated with differences in processing of the proteins; HPRT B, which is encoded as N-terminal Met-Pro, has a free N-terminal proline residue; HPRT A, which is encoded as N-..
- Hypoxanthine-guanine phosphoribosyltransferase genes of mouse and Chinese hamster: construction and sequence analysis of cDNA recombinantsD S Konecki
Nucleic Acids Res 10:6763-75. 1982..plasmids containing DNA inserts complementary to mRNA coding for hypoxanthine-guanine phosphoribosyltransferase (HPRT) from mouse and Chinese hamster cell lines have been isolated from cDNA libraries and characterized by DNA sequence ..
- Essential functions of synapsins I and II in synaptic vesicle regulationT W Rosahl
Department of Molecular Genetics, University of Texas Southwestern Medical School, Dallas 75235, USA
Nature 375:488-93. 1995....
- Mosaic expression of an Hprt transgene integrated in a region of Y heterochromatinD D Pravtcheva
Pediatric Research Institute, St Louis University School of Medicine, Missouri 63110
J Exp Zool 268:452-68. 1994..We have produced a transgenic line that carries a mouse Hprt minigene on the Y chromosome. In situ hybridization localized the transgene to the heterochromatic portion of the Y...
- Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient miceC L Wu
Institute of Cell and Molecular Biology, Edinburgh University, Scotland
Nat Genet 3:235-40. 1993..disease Lesch-Nyhan syndrome, which is caused by a deficiency of the enzyme hypoxanthine phosphoribosyltransferase (HPRT), is characterized by behavioural alterations, including self-injurious behaviour and mental retardation...
- Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouseJ M Ordway
Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham, 35294, USA
Cell 91:753-63. 1997..context, we have introduced a 146-unit CAG repeat into the mouse hypoxanthine phosphoribosyltransferase gene (Hprt). Mutant mice express a form of the HPRT protein that contains a long polyglutamine repeat...
- The influence of chromosomal location on the expression of two transgenes in miceS Hatada
Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina 27599 7525, USA
J Biol Chem 274:948-55. 1999..simplex thymidine kinase promoter with polyoma enhancers, inserted into two defined chromosomal locations, the Hprt locus on the X-chromosome and the apolipoprotein (apo) AI-CIII gene cluster on chromosome 9...
- Temporal, spatial and tissue-specific expression of a myogenin-lacZ transgene targeted to the Hprt locus in miceJ L Vivian
University of Texas M D Anderson Cancer Center, Houston, USA
Biotechniques 27:154-62. 1999..expressed by the myogenin promoter, was introduced into the mouse hypoxanthine phosphoribosyltransferase (Hprt) locus by gene targeting in embryonic stem cells. Embryos between E10.5-E18...
- Bone morphogenetic protein 2/4 signaling regulates early thymocyte differentiationAriadne L Hager-Theodorides
Department of Biological Sciences, Imperial College of Science Technology and Medicine, London SW7 2AZ, UK
J Immunol 169:5496-504. 2002..Our study suggests that the BMP2/4 pathway may function in thymic homeostasis by regulating T cell lineage commitment and differentiation...
- A gammaGT-AT1A receptor transgene protects renal cortical structure in AT1 receptor-deficient miceThu H Le
Department of Medicine, Duke University and Durham Veterans Affairs Medical Centers, Durham 27705, USA
Physiol Genomics 18:290-8. 2004..targeting to produce mice with a single-copy transgene insertion at the hypoxanthine phosphoribosyl transferase (Hprt) locus on the X chromosome...
- Mammalian polycomb-mediated repression of Hox genes requires the essential spliceosomal protein Sf3b1Kyoichi Isono
Developmental Genetics Group, RIKEN Research Center for Allergy and Immunology, Tsurumi ku, Yokohama 230 0045, Japan
Genes Dev 19:536-41. 2005..Importantly, the levels of Sf3b1 in PcG complexes were decreased in Sf3b1-heterozygous embryos. These findings suggest that Sf3b1-PcG protein interaction is essential for true PcG-mediated repression of Hox genes...
- Comparison of PCR-based mutation detection methods and application for identification of mouse Sult1a1 mutant embryonic stem cell clones using pooled templatesBoris Greber
Max Planck Institute of Molecular Genetics, Berlin, Germany
Hum Mutat 25:483-90. 2005..Using a set of defined mutations in the Hprt1 gene of mouse embryonic stem (ES) cells, we have systematically compared several PCR-based point mutation and ..
- Effects of CAG repeat length, HTT protein length and protein context on cerebral metabolism measured using magnetic resonance spectroscopy in transgenic mouse models of Huntington's diseaseBruce G Jenkins
MGH NMR Center, Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts 02129, USA
J Neurochem 95:553-62. 2005..of gene context in mice with an approximate 146 CAG repeat on the hypoxanthine phosphoribosyltransferase gene (HPRT). HPRT mice developed an obese phenotype in contrast to weight loss in the R6/2 and N171-82Q mice...
- Expression of Pitx2 in stromal cells is required for normal hematopoiesisAurelie Kieusseian
Institut Cochin, Departement d Hematologie, Paris, France
Blood 107:492-500. 2006..Altogether these data showed that Pitx2 has major functions in the hematopoietic supportive capacity of fetal liver and adult bone marrow stromal cells...
- The neurofibromin GAP-related domain rescues endothelial but not neural crest development in Nf1 miceFraz A Ismat
Division of Cardiology, Department of Pediatrics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
J Clin Invest 116:2378-84. 2006....
- Basal ganglia dopamine loss due to defect in purine recyclingKiyoshi Egami
Department of Neurology, Meyer Room 6 181, 600 North Wolfe Street, Johns Hopkins Hospital, Baltimore, MD 21287, USA
Neurobiol Dis 26:396-407. 2007..In both humans and mice, deficiency of hypoxanthine-guanine phosphoribosyl transferase (HPRT) is associated with profound loss of striatal dopamine, with relative preservation of other neurotransmitters...
- A conditional mouse model of synovial sarcoma: insights into a myogenic originMalay Haldar
Department of Human Genetics, The Center for Children, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA
Cancer Cell 11:375-88. 2007..We also show that early widespread expression of the fusion protein disrupts normal embryogenesis, causing lethality...
- Requirement of bic/microRNA-155 for normal immune functionAntony Rodriguez
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
Science 316:608-11. 2007..Our work suggests that bic/microRNA-155 plays a key role in the homeostasis and function of the immune system...
- A three-kilobase fragment of the human Robo4 promoter directs cell type-specific expression in endotheliumYoshiaki Okada
Center for Vascular Biology Research and Division of Molecular and Vascular Medicine, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA
Circ Res 100:1712-22. 2007..The 3-kb Robo4 promoter was coupled to LacZ, and the resulting cassette was introduced into the Hprt locus of mice by homologous recombination...
- Tissue-specific aberrations of gene expression in HPRT-deficient mice: functional complexity in a monogenic disease?Shaochun Song
Department of Pediatrics, University of California, San Diego School of Medicine, La Jolla, California 92093, USA
Mol Ther 15:1432-43. 2007We have used the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme-deficient mouse model of human Lesch-Nyhan disease (LND) to examine the tissue-specificity of altered global gene expression in a genetically "simple" monogenic ..
- In vivo characterization of human APOA5 haplotypesNadav Ahituv
Genomics Division, MS 84 171, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA
Genomics 90:674-9. 2007..on ApoAV plasma levels through the precise insertion of single-copy APOA5 haplotypes at a targeted location (Hprt) in the mouse genome...
- Discordant on/off switching of gene expression in myocytes during cardiac hypertrophy in vivoKumar Pandya
Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC 27599, USA
Proc Natl Acad Sci U S A 105:13063-8. 2008....
- De novo DNA methylation independent establishment of maternal imprint on X chromosome in mouse oocytesHatsune Chiba
Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Research Organization of Information and Systems, 1111 Yata, Mishima, Japan
Genesis 46:768-74. 2008..This underscores the difference between imprinted XCI and autosomal imprinting...
- Impaired Bub1 function in vivo compromises tension-dependent checkpoint function leading to aneuploidy and tumorigenesisMark Schliekelman
Curriculum in Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA
Cancer Res 69:45-54. 2009..Thus, Bub1 is essential for proper chromosome segregation, a defect that can lead to severe phenotypes, including perinatal lethality and a predisposition to cancer...
- Titin-based force modulation in cardiac muscleHenk Granzier; Fiscal Year: 2004..This is expected to result in a more complete understanding of muscle contraction and to lay the basis for a better understanding of muscle disease. ..
- Role of titin in heart function and diseaseHenk Granzier; Fiscal Year: 2007..We will test the hypothesis that titin's M-line region is critically important for the structural integrity of contracting sarcomere. [unreadable] [unreadable]..
- NEURONAL MIGRATION IN THE DEVELOPING BRAINHuaiyu Hu; Fiscal Year: 2003....
- Molecular Studies of Brain MalformationsHuaiyu Hu; Fiscal Year: 2007....
- Combined MRI/PET Imager for Simultaneous Acquisition of PET/MRI DataBruce Jenkins; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- Imaging Dopamine Mediated Neurovascular CouplingBruce Jenkins; Fiscal Year: 2010..Finally, we will improve both our quantitative ability to acquire the data using higher contrast to noise techniques as well as model the signal changes using dopaminergic release and reuptake curves. ..