ABCC6

Summary

Gene Symbol: ABCC6
Description: ATP binding cassette subfamily C member 6
Alias: ABC34, ARA, EST349056, GACI2, MLP1, MOAT-E, MOATE, MRP6, PXE, PXE1, URG7, multidrug resistance-associated protein 6, URG7 protein, ATP-binding cassette, sub-family C (CFTR/MRP), member 6, anthracycline resistance-associated protein, multi-specific organic anion transporter E
Species: human

Top Publications

  1. pmc A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1
    S van Soest
    Genome Res 7:830-4. 1997
  2. ncbi Pseudoxanthoma elasticum
    K H Neldner
    Department of Dermatology, Texas Tech University Health Sciences Center, Lubbock 79430
    Clin Dermatol 6:1-159. 1988
  3. pmc MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver
    M G Belinsky
    Division of Medical Sciences, Fox Chase Cancer Center, Philadelphia, PA 19111, USA
    Br J Cancer 80:1342-9. 1999
  4. ncbi Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
    O Le Saux
    Laboratory of Matrix Pathobiology, Pacific Biomedical Research Center, University of Hawai i, Honolulu, Hawai i, USA
    Nat Genet 25:223-7. 2000
  5. ncbi Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum
    L Pulkkinen
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and the Jefferson Institute of Molecular Medicine, Thomas Jefferson University, 233 S 10th Street, Philadelphia, PA 19107, USA
    Hum Genet 109:356-65. 2001
  6. ncbi Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease
    Mieke D Trip
    Department of Cardiology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Circulation 106:773-5. 2002
  7. ncbi ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum
    Xiaofeng Hu
    Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands
    Eur J Hum Genet 11:215-24. 2003
  8. ncbi Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum
    Xiaofeng Hu
    Netherlands Ophthalmic Research Institute, Royal Netherlands Academy of Art and Sciences KNAW, Amsterdam, The Netherlands
    Invest Ophthalmol Vis Sci 44:1824-9. 2003
  9. ncbi Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells
    Emese Sinkó
    Institute of Enzymology, Hungarian Academy of Sciences, Budapest, Hungary
    Biochem Biophys Res Commun 308:263-9. 2003
  10. ncbi ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)
    Dealba Gheduzzi
    Dept Biomedical Sciences, University of Modena and Reggio Emilia, Modena, Italy
    Hum Mutat 24:438-9. 2004

Research Grants

  1. Stanley Pounds; Fiscal Year: 2016
  2. GTI-2040: An anti-sense strategy to reduce ribonucleotide reductase in AML
    GUIDO contact MARCUCCI; Fiscal Year: 2010
  3. IRINOTECAN AND CYTARABINE IN ACUTE MYELOID LEUKEMIA
    Maria Baer; Fiscal Year: 2001
  4. Sharyn D Baker; Fiscal Year: 2016
  5. P I/II Intraventricular DepoCyt (OD # 06-2348) in Glioblastoma (76,730, 11/06)
    BRUCE MICHAEL FRANKEL; Fiscal Year: 2010
  6. Jouni Uitto; Fiscal Year: 2016
  7. Jouni Uitto; Fiscal Year: 2016
  8. KATHLEEN LUCILE BERKNER; Fiscal Year: 2016
  9. Translational Opportunities for the Heritable Disorders of Connective Tissue
    Lynn Y Sakai; Fiscal Year: 2011
  10. Pseudoxanthoma Elasticum Research 2010 Conference
    Sharon F Terry; Fiscal Year: 2011

Detail Information

Publications239 found, 100 shown here

  1. pmc A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1
    S van Soest
    Genome Res 7:830-4. 1997
    Pseudoxanthoma elasticum (PXE) is a heritable systemic disorder characterized by calcification of the elastic fibers of the connective tissue...
  2. ncbi Pseudoxanthoma elasticum
    K H Neldner
    Department of Dermatology, Texas Tech University Health Sciences Center, Lubbock 79430
    Clin Dermatol 6:1-159. 1988
  3. pmc MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver
    M G Belinsky
    Division of Medical Sciences, Fox Chase Cancer Center, Philadelphia, PA 19111, USA
    Br J Cancer 80:1342-9. 1999
    ..In the present study we describe the fourth MRP/cMOAT-related transporter. We analysed ARA, a human cDNA reported to encode a 453 residue MRP-related transporter, and found that it represents a fused ..
  4. ncbi Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
    O Le Saux
    Laboratory of Matrix Pathobiology, Pacific Biomedical Research Center, University of Hawai i, Honolulu, Hawai i, USA
    Nat Genet 25:223-7. 2000
    ..Here we report the exclusion of five of these genes and the identification of the first mutations responsible for the development of PXE in a gene encoding a protein associated with multidrug resistance (ABCC6).
  5. ncbi Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum
    L Pulkkinen
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and the Jefferson Institute of Molecular Medicine, Thomas Jefferson University, 233 S 10th Street, Philadelphia, PA 19107, USA
    Hum Genet 109:356-65. 2001
    ..disorder affecting the skin, eyes, and the cardiovascular system, has recently been linked to mutations in the ABCC6 gene on chromosome 16p13.1...
  6. ncbi Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease
    Mieke D Trip
    Department of Cardiology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Circulation 106:773-5. 2002
    ..Recently, we and others have identified mutations in the gene coding for the ABCC6 transporter in PXE patients with ocular and skin involvement...
  7. ncbi ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum
    Xiaofeng Hu
    Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands
    Eur J Hum Genet 11:215-24. 2003
    ..Recently, we and others showed that PXE is caused by mutations in the ABCC6/MRP6 gene...
  8. ncbi Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum
    Xiaofeng Hu
    Netherlands Ophthalmic Research Institute, Royal Netherlands Academy of Art and Sciences KNAW, Amsterdam, The Netherlands
    Invest Ophthalmol Vis Sci 44:1824-9. 2003
    To characterize the ABCC6 R1141X nonsense mutation, which is implicated in more than 25% of a cohort of patients from The Netherlands with pseudoxanthoma elasticum (PXE).
  9. ncbi Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells
    Emese Sinkó
    Institute of Enzymology, Hungarian Academy of Sciences, Budapest, Hungary
    Biochem Biophys Res Commun 308:263-9. 2003
    Mutations in the gene coding for a human ABC transporter protein, ABCC6 (MRP6), are responsible for the development of pseudoxanthoma elasticum...
  10. ncbi ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)
    Dealba Gheduzzi
    Dept Biomedical Sciences, University of Modena and Reggio Emilia, Modena, Italy
    Hum Mutat 24:438-9. 2004
    ..cardiovascular clinical symptoms, caused by mutations in a gene (ABCC6) that encodes for MRP6 (Multidrug Resistance associated Protein 6), an ATP-binding cassette membrane transporter...
  11. ncbi Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum
    Xiaofeng Hu
    Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands
    Genet Test 8:292-300. 2004
    ..The two most frequent mutations, R1141X and an ABCC6 del exons 23-29, as well as a core set of mutations, were identified by restriction enzyme digestion and size ..
  12. ncbi Identification of a DNA methylation-dependent activator sequence in the pseudoxanthoma elasticum gene, ABCC6
    Tamás Arányi
    Institute of Enzymology, Hungarian Academy of Sciences, H 1113 Budapest, Hungary
    J Biol Chem 280:18643-50. 2005
    b>ABCC6 encodes MRP6, a member of the ABC protein family with an unknown physiological role. The human ABCC6 and its two pseudogenes share 99% identical DNA sequence...
  13. ncbi The gene family of ABC transporters--novel mutations, new phenotypes
    Jouni Uitto
    Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Trends Mol Med 11:341-3. 2005
    ..Recently, mutations in two ABC-transporter genes, ABCC6 and ABCA12, have been demonstrated to underlie phenotypically different diseases affecting the skin (..
  14. ncbi Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6
    Sara Miksch
    Charite, Franz Volhard Clinic, HELIOS Klinikum, Humboldt University, Berlin, Germany
    Hum Mutat 26:235-48. 2005
    ..Mutations in the ABCC6 gene cause PXE...
  15. pmc Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
    Ellen G Pfendner
    GeneDx Inc, 207 Perry Parkway, Gaithersburg, Maryland 20877, USA
    J Med Genet 44:621-8. 2007
    ..It is caused by mutations in the ABCC6 (ATP binding cassette family C member 6) gene, which encodes MRP6 (multidrug resistance-associated protein 6).
  16. doi Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches
    Robert P Finger
    Department of Ophthalmology, University of Bonn, Bonn, Germany
    Surv Ophthalmol 54:272-85. 2009
    ..Its prevalence has been estimated to be 1:25,000-100,000. Very recently, the ABCC6 gene on chromosome 16p13.1 was found to be associated with the disease...
  17. doi Liver-specific enhancer in ABCC6 promoter-Functional evidence from natural polymorphisms
    Marcin Ratajewski
    Institute of Medical Biology, Polish Academy of Sciences, Lodowa, Lodz, Poland
    Biochem Biophys Res Commun 383:73-7. 2009
    Pseudoxanthoma elasticum (PXE) is a heritable connective tissue disease caused by mutations in the ABCC6 gene that encodes a transmembrane transporter of unknown function, expressed mainly in the liver...
  18. pmc The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease
    Gabriella Koblos
    Institute of Enzymology, Hungarian Academy of Sciences, Budapest, Hungary
    Genet Test Mol Biomarkers 14:75-8. 2010
    Loss-of-function mutations of ABCC6 cause pseudoxanthoma elasticum (PXE)...
  19. pmc The ERK1/2-hepatocyte nuclear factor 4alpha axis regulates human ABCC6 gene expression in hepatocytes
    Hugues de Boussac
    Institute of Enzymology, Hungarian Academy of Sciences, Karolina ut 29, 1113 Budapest, Hungary
    J Biol Chem 285:22800-8. 2010
    b>ABCC6 mutations are responsible for the development of pseudoxanthoma elasticum, a rare recessive disease characterized by calcification of elastic fibers...
  20. pmc ABCC6 does not transport vitamin K3-glutathione conjugate from the liver: relevance to pathomechanisms of pseudoxanthoma elasticum
    Krisztina Fülöp
    Institute of Enzymology, Hungarian Academy of Sciences, Budapest, Hungary
    Biochem Biophys Res Commun 415:468-71. 2011
    ..It has been suggested that ABCC6 may have a role in transporting vitamin K or its derivatives from the liver to the periphery...
  21. pmc Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6
    Yvonne Nitschke
    Department of General Pediatrics, Münster University Children s Hospital, Germany
    Am J Hum Genet 90:25-39. 2012
    ..GACI is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause PXE. However, the genetic basis in subsets of both disease phenotypes remains elusive...
  22. pmc ABCC6 is a basolateral plasma membrane protein
    Viola Pomozi
    Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Budapest, Hungary
    Circ Res 112:e148-51. 2013
    b>ABCC6 plays a crucial role in ectopic calcification; mutations of the gene cause pseudoxanthoma elasticum and general arterial calcification of infancy...
  23. ncbi Mutations in ABCC6 cause pseudoxanthoma elasticum
    A A Bergen
    The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands
    Nat Genet 25:228-31. 2000
    ..Here we describe homozygosity mapping in five PXE families and the detection of deletions or mutations in ABCC6 (formerly MRP6) associated with all genetic forms of PXE in seven patients or families.
  24. pmc A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum
    O Le Saux
    Pacific Biomedical Research Center, University of Hawai i, Honolulu, HI 96822, USA
    Am J Hum Genet 69:749-64. 2001
    ..pseudoxanthoma elasticum (PXE), we performed a mutational analysis of ATP-binding cassette subfamily C member 6 (ABCC6) in 122 unrelated patients with PXE, the largest cohort of patients yet studied...
  25. ncbi ABCC6 gene polymorphism associated with variation in plasma lipoproteins
    J Wang
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, London, ON, Canada
    J Hum Genet 46:699-705. 2001
    ..b>ABCC6 is another member of the ABC gene family, and mutations in ABCC6 were recently shown to cause pseudoxanthoma ..
  26. ncbi Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6)
    Attila Iliás
    Institute of Enzymology, Hungarian Academy of Sciences, 1113 Budapest, Hungary
    J Biol Chem 277:16860-7. 2002
    Mutations in the ABCC6 (MRP6) gene cause pseudoxanthoma elasticum (PXE), a rare heritable disorder resulting in the calcification of elastic fibers...
  27. ncbi Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update
    Xiaofeng Hu
    Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands
    Surv Ophthalmol 48:424-38. 2003
    ..Using linkage analysis and mutation detection techniques, mutations in the ABCC6 gene were recently implicated in the etiology of pseudoxanthoma elasticum...
  28. ncbi Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum
    Veronika Schulz
    Institut fur Laboratoriums und Transfusionsmedizin, Herz und Diabeteszentrum Nordrhein Westfalen, Universitatsklinik der Ruhr Universitat Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany
    Hum Biol 77:367-84. 2005
    ..Recently, the PXE candidate gene ABCC6 was identified and a limited number of ABCC6 mutations were observed in different PXE cohorts...
  29. ncbi Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro
    Olivier Le Saux
    Department of Cell and Molecular Biology, John A Burns School of Medicine, University of Hawaii, Honolulu, Hawaii, USA
    J Invest Dermatol 126:1497-505. 2006
    ..PXE is caused by mutations in ABCC6, a gene encoding an ABC transporter predominantly expressed in liver and kidneys...
  30. ncbi Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients
    Nicolas Chassaing
    INSERM, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, F 31300 France
    Hum Mutat 28:1046. 2007
    ..PXE is caused by mutations in ABCC6 encoding a multidrug resistance protein (ABCC6, also known as MRP6)...
  31. doi How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes
    Orsolya Symmons
    Institute of Enzymology, Hungarian Academy of Sciences, Budapest, Hungary
    Mol Biol Evol 25:2601-13. 2008
    ..We focused on PKD1 and ABCC6 duplications because mutations affecting these genes are responsible for the Mendelian disorders autosomal ..
  32. pmc Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 129:553-63. 2009
    ..feature of classic pseudoxanthoma elasticum (PXE), an autosomal recessive disorder caused by mutations in the ABCC6 gene, is aberrant mineralization of connective tissues, particularly the elastic fibers...
  33. doi Clustering of disease-causing mutations on the domain-domain interfaces of ABCC6
    Krisztina Fülöp
    Institute of Enzymology, Hungarian Academy of Sciences, Karolina ut 29, Budapest, Hungary
    Biochem Biophys Res Commun 379:706-9. 2009
    Mutations in ABCC6 are responsible for pseudoxanthoma elasticum (PXE), a rare genetic disease affecting the elastic tissues of the body. ABCC6 encodes a 1503 amino acid long ABC transporter, ABCC6/MRP6...
  34. pmc Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    J Invest Dermatol 130:661-70. 2010
    ..The classic forms of PXE are due to loss-of-function mutations in the ABCC6 gene, which encodes ABCC6, a transmembrane efflux transporter expressed primarily in the liver...
  35. doi Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region
    Laura M F Costrop
    Center for Medical Genetics, Ghent University, Belgium
    J Hum Genet 55:112-7. 2010
    Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a heritable disease that affects elastic fibers...
  36. doi Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease
    Louise S Hornstrup
    Department of Clinical Biochemistry, Rigshospitalet, Copenhagen, Denmark
    Circ Cardiovasc Genet 4:534-41. 2011
    Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease caused by loss-of-function mutations in ABCC6 and characterized by elastic calcification leading to dermal, ocular, and ischemic vascular disease...
  37. ncbi Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells
    M Kool
    Division of Molecular Biology, The Netherlands Cancer Institute, Amsterdam
    Cancer Res 59:175-82. 1999
    ..encoding the canalicular multispecific organic anion transporter; and four homologues, called MRP3, MRP4, MRP5, and MRP6. The most recently discovered member of the family, MRP6, is analyzed in this report...
  38. ncbi Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE)
    Veronika Schulz
    Institut fur Laboratoriums und Transfusionsmedizin, Herz und Diabeteszentrum Nordrhein Westfalen, Universitatsklinik der Ruhr Universitat Bochum, Bad Oeynhausen, Germany
    Hum Mutat 27:831. 2006
    ..Recently, ABCC6 mutations were identified as causing PXE...
  39. pmc Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
    F Ringpfeil
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107 and Department of Dermatology, Mt Sinai School of Medicine, New
    Proc Natl Acad Sci U S A 97:6001-6. 2000
    ..1, without evidence for locus heterogeneity. In this study, we report pathogenetic mutations in MRP6, a member of the ABC transporter gene family, in eight kindreds with PXE...
  40. ncbi Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?
    J Uitto
    Depts of Dermatology and Cutaneous Biology, and Biochemistry and Molecular Pharmacology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Trends Mol Med 7:13-7. 2001
    ..Recently, PXE has been linked to mutations in the MRP6/ABCC6 gene, a member of the ABC transporter family, expressed primarily in the liver and the kidneys...
  41. pmc Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
    N Chassaing
    Department of Medical Genetics, INSERM U563, Purpan Hospital, Toulouse, France
    J Med Genet 42:881-92. 2005
    ..PXE was recently associated with mutations in the ABCC6 (ATP binding cassette subtype C number 6) gene. At least one ABCC6 mutation is found in about 80% of patients...
  42. ncbi Atrial septal aneurysm in a patient with pseudoxanthoma elasticum
    G Bertulezzi
    Divisione di Medicina Generale, Ospedale Pesenti Fenaroli, Alzano Lombardo, Italy
    Acta Cardiol 53:223-5. 1998
    Pseudoxanthoma elasticum (PXE) is a rare heritable disorder of the connective tissue characterized by marked clinical heterogeneity...
  43. ncbi Juvenile pseudoxanthoma elasticum: recognition and management
    S M Hacker
    Division of Dermatology and Cutaneous Surgery, University of Florida College of Medicine, Gainesville 32610-0277
    Pediatr Dermatol 10:19-25. 1993
    An 8-year-old girl had pseudoxanthoma elasticum (PXE) with the characteristic skin and ocular findings. She had no associated systemic symptoms and no family history of PXE...
  44. ncbi Basic and therapeutic trial results obtained in the spontaneous AK leukemia (lymphoma) model-end of 1971
    H E Skipper
    Kettering-Meyer Laboratory, Southern Research Institute, Birmingham, AL, USA
    Cancer Chemother Rep 56:273-87, 289-314. 1972
    ..is presently the most effective single agent against spontaneous AK lymphoma, with arabinosylcytosine or palmO-ara-C a close second...
  45. ncbi Pregnancy and obstetrical outcomes in pseudoxanthoma elasticum
    L Bercovitch
    Department of Dermatology, Brown Medical School, Providence, RI, USA
    Br J Dermatol 151:1011-8. 2004
    Pseudoxanthoma elasticum (PXE) is a genetic multisystem disorder characterized by calcified dystrophic elastic fibres in skin, retina and arteries...
  46. pmc Magnesium carbonate-containing phosphate binder prevents connective tissue mineralization in Abcc6(-/-) mice-potential for treatment of pseudoxanthoma elasticum
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    Clin Transl Sci 2:398-404. 2009
    ..PXE is caused by mutations in the ABCC6 gene...
  47. ncbi Chondroitin sulfate in normal human plasma is modified depending on the age. Its evaluation in patients with pseudoxanthoma elasticum
    Nicola Volpi
    Department of Biologia Animale University of Modena and Reggio Emilia Via Campi 213 D, 41100 Modena, Italy
    Clin Chim Acta 370:196-200. 2006
    ..amount and charge density were determined in 45 healthy volunteers (control group), 45 pseudoxanthoma elasticum (PXE)-affected patients and 19 healthy carriers by using fluorophore-assisted carbohydrate electrophoresis (FACE) and ..
  48. ncbi [Increased haemoglobin A2 levels in pseudoxanthoma elasticum]
    L Martin
    Consultation Multidisciplinaire PXE, CHR d Orleans, Cedex, France
    Ann Dermatol Venereol 133:645-51. 2006
    Pseudoxanthoma elasticum (PXE) is normally associated with mutations in the ABCC6 gene. A PXE phenotype without mutations in ABCC6 has been described in Greek and Italian patients presenting with beta thalassemia...
  49. ncbi Does the absence of ABCC6 (multidrug resistance protein 6) in patients with Pseudoxanthoma elasticum prevent the liver from providing sufficient vitamin K to the periphery?
    Piet Borst
    The Netherlands Cancer Institute, Division of Molecular Biology, Amsterdam, The Netherlands
    Cell Cycle 7:1575-9. 2008
    ..Classical PXE is caused by mutations in the ABCC6 gene, which encodes a member of the ABCC (MRP) family of organic anion transporters...
  50. doi Relationship between the distribution of pseudoxanthoma elasticum skin and mucous membrane lesions and cardiovascular involvement
    Atsushi Utani
    Department of Dermatology, Graduate School of Medicine, Kyoto University, Kyoto, Japan
    J Dermatol 37:130-6. 2010
    Pseudoxanthoma elasticum (PXE) primarily affects organs that are abundant in elastic fibers, such as the skin, eye and blood vessels, and may eventually cause loss of vision or cardiovascular disease (CVD)...
  51. ncbi ABCC6 and pseudoxanthoma elasticum
    Arthur A B Bergen
    Department of Clinical and Molecular Ophthalmogenetics, Amsterdam, The Netherlands
    Pflugers Arch 453:685-91. 2007
    b>ABCC6 belongs to the adenosine triphosphate-binding cassette (ABC) gene subfamily C...
  52. doi Gene expression profiling of ABC transporters in dermal fibroblasts of pseudoxanthoma elasticum patients identifies new candidates involved in PXE pathogenesis
    Doris Hendig
    Institut fur Laboratoriums und Transfusionsmedizin, Herz und Diabeteszentrum Nordrhein Westfalen, Universitatsklinik der Ruhr Universitat Bochum, Bad Oeynhausen, Germany
    Lab Invest 88:1303-15. 2008
    Mutations in the ABCC6 gene, encoding the multidrug resistance-associated protein 6 (MRP6), cause pseudoxanthoma elasticum (PXE). This heritable disorder leads to pathological alterations in connective tissues...
  53. pmc The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, 233 South 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA
    J Mol Med (Berl) 88:173-81. 2010
    ..PXE is caused by mutations in the ABCC6 gene, and targeted ablation of Abcc6 in mouse recapitulates PXE...
  54. pmc Overexpression of fetuin-a counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6(-/-))
    Qiujie Jiang
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    J Invest Dermatol 130:1288-96. 2010
    ..factor in circulation, and the serum levels of fetuin-A in patients with PXE as well as in a mouse model of PXE (Abcc6(-/-)) have been shown to be reduced by up to 30%...
  55. ncbi Prevalence of symptomatic intracranial aneurysm and ischaemic stroke in pseudoxanthoma elasticum
    J S van den Berg
    Department of Neurology, University Hospital Nijmegen, The
    Cerebrovasc Dis 10:315-9. 2000
    Pseudoxanthoma elasticum (PXE) is an heritable connective tissue disorder with clinical manifestations of the ocular, dermal, and cardiovascular system...
  56. ncbi Nucleotide binding and nucleotide hydrolysis properties of the ABC transporter MRP6 (ABCC6)
    Jie Cai
    Department of Biochemistry, McGill Cancer Center, McGill University, 3655 Sir William Osler Promenade, Montreal, Quebec, Canada H3G 1Y6
    Biochemistry 41:8058-67. 2002
    Mutations in the MRP gene family member MRP6 cause pseudoxanthoma elasticum (PXE) in humans, a disease affecting elasticity of connective tissues. The normal function of MRP6, including its physiological substrate(s), remains unknown...
  57. pmc Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues
    John F Klement
    Department of Dermatology, Jefferson Medical College, 233 S 10th Street, Suite 322 BLSB, Philadelphia, PA 19107, USA
    Mol Cell Biol 25:8299-310. 2005
    ..by connective tissue mineralization of the skin, eyes, and cardiovascular system, is caused by mutations in the ABCC6 gene...
  58. pmc Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder--a preliminary study
    Jennifer Larusso
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Exp Dermatol 17:203-7. 2008
    Pseudoxanthoma elasticum (PXE), a heritable multisystem disorder, is caused by mutations in the ABCC6 gene. We have developed a murine model for PXE by targeted inactivation of the corresponding mouse gene...
  59. pmc Parabiotic heterogenetic pairing of Abcc6-/-/Rag1-/- mice and their wild-type counterparts halts ectopic mineralization in a murine model of pseudoxanthoma elasticum
    Qiujie Jiang
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA 19107, USA
    Am J Pathol 176:1855-62. 2010
    ..This disease is caused by mutations in the ABCC6 gene, which is expressed primarily in the baso-lateral surface of hepatocytes, and Abcc6(-/-) mice develop ..
  60. pmc DNA methylation and Sp1 binding determine the tissue-specific transcriptional activity of the mouse Abcc6 promoter
    Vanessa Douet
    Department of Cell and Molecular Biology, John A Burns School of Medicine, University of Hawaii, Honolulu, HI 96813, USA
    Biochem Biophys Res Commun 354:66-71. 2007
    The gene encoding the ABCC6 protein, an ABC transporter of the multidrug resistance-associated protein (MRP), is mainly expressed in liver and kidney...
  61. ncbi Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6)
    Martin G Belinsky
    Medical Science Division, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA
    Cancer Res 62:6172-7. 2002
    Mutations in human multidrug resistance protein 6 (MRP6, ABCC6), a member of the MRP family of drug efflux pumps, are the genetic basis of Pseudoxanthoma elasticum, a disease that affects elastin fibers in the skin, retina, and blood ..
  62. ncbi Abnormal phenotype of in vitro dermal fibroblasts from patients with Pseudoxanthoma elasticum (PXE)
    D Quaglino
    Department of Biomedical Sciences General Pathology, University of Modena and Reggio Emilia, Via Campi 287, 41100, Modena, Italy
    Biochim Biophys Acta 1501:51-62. 2000
    Pseudoxanthoma elasticum (PXE) is a genetic connective tissue disease, whose gene and pathogenesis are still unknown...
  63. ncbi Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum
    Theo G M F Gorgels
    Department of Molecualr and Clinical Ophthalmogenetics, The Netherlands Ophthalmic Research Institute NORI, Amsterdam, The Netherlands
    Hum Mol Genet 14:1763-73. 2005
    ..The condition is caused by loss of function mutations in ABCC6. We generated Abcc6 deficient mice (Abcc6-/-) by conventional gene targeting...
  64. ncbi Elevated xylosyltransferase I activities in pseudoxanthoma elasticum (PXE) patients as a marker of stimulated proteoglycan biosynthesis
    Christian Gotting
    Institut fur Laboratoriums und Transfusionsmedizin, Herz und Diabeteszentrum Nordrhein Westfalen, Universitatsklinik der Ruhr Universitat Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany
    J Mol Med (Berl) 83:984-92. 2005
    ..The occurrence of the frequent ABCC6 gene mutation c...
  65. pmc Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course
    S Schon
    Institut fur Laboratoriums und Transfusionsmedizin, Herz und Diabeteszentrum Nordrhein Westfalen, Universitatsklinik der Ruhr Universitat Bochum, Bad Oeynhausen, Germany
    J Med Genet 43:745-9. 2006
    Pseudoxanthoma elasticum (PXE) is a heritable connective tissue disorder caused by mutations in the ABCC6 gene. Fragmentation of elastic fibres and deposition of proteoglycans result in a highly variable clinical picture...
  66. pmc Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms
    Qiaoli Li
    Departments of Dermatology and Cutaneous Biology, and Biochemistry and Molecular Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Exp Dermatol 18:1-11. 2009
    ..The causative gene was initially identified as ABCC6 which encodes an ABC transporter protein (ABCC6) expressed primarily in the liver and the kidneys...
  67. doi Manifestations of pseudoxanthoma elasticum in childhood
    M Naouri
    PXE Consultation Centre, Orleans Hospital, Orleans, France
    Br J Dermatol 161:635-9. 2009
    Pseudoxanthoma elasticum (PXE) affects the skin, retina and cardiovascular system. Most cases are related to mutations in the ABCC6 gene. The diagnosis is most often made late in the second or third decade of life.
  68. pmc Dietary magnesium, not calcium, prevents vascular calcification in a mouse model for pseudoxanthoma elasticum
    Theo G M F Gorgels
    Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience, Meibergdreef 47, 1105 BA, Amsterdam, The Netherlands
    J Mol Med (Berl) 88:467-75. 2010
    ..PXE is caused by mutations in the ABCC6 gene, but the exact etiology is still unknown...
  69. ncbi Tissue-specific expression of the ABCC6 gene
    Yasushi Matsuzaki
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 125:900-5. 2005
    The ABCC6 gene encodes MRP6, a member of the multidrug resistance-associated protein (MRP) family...
  70. ncbi Targeted ablation of Abcc1 or Abcc3 in Abcc6(-/-) mice does not modify the ectopic mineralization process
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Exp Dermatol 16:853-9. 2007
    ..PXE is caused by mutations in the ABCC6 gene, which encodes a transporter protein, MRP6, and targeted ablation of Abcc6 in mice recapitulates the ..
  71. pmc Pseudoxanthoma elasticum: reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6-/-)
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA 19107, USA
    Biochem Biophys Res Commun 364:208-13. 2007
    ..disorder manifesting with ectopic mineralization of soft connective tissues, is caused by mutations in the ABCC6/MRP6 gene/protein system, but the mechanisms how the ABCC6 mutations lead to aberrant mineralization are currently ..
  72. doi Parameters of oxidative stress are present in the circulation of PXE patients
    Maria Inmaculada Garcia-Fernandez
    Department of Human Physiology, University of Malaga, Spain
    Biochim Biophys Acta 1782:474-81. 2008
    ..The severity of the disease is independent from the type of mutation in the ABCC6 gene, and it has been suggested that local and/or systemic factors may contribute to the occurrence of clinical ..
  73. ncbi Biochemical characterization and NMR study of the region E748-A785 of the human protein MRP6/ABCC6
    Angela Ostuni
    Department of Chemistry, University of Basilicata, Potenza, Via Nazario Sauro 85, 85100, Italy
    Protein Pept Lett 17:861-6. 2010
    Multidrug-resistance-associated protein 6 (MRP6/ABCC6) is a protein belonging to the ABC transporter family which couple ATP hydrolysis with the transport of molecules across biological membranes...
  74. doi Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome
    Olivier M Vanakker
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Lab Invest 90:895-905. 2010
    ..Because of the resemblance with pseudoxanthoma elasticum (PXE), a prototype disorder of elastic fiber mineralization, it was coined the PXE-like syndrome...
  75. ncbi A systematic overview of chemotherapy effects in acute myeloid leukaemia
    E Kimby
    Department of Haematology, University Hospital, Huddinge, Sweden
    Acta Oncol 40:231-52. 2001
    ..into the following points: Standard induction therapy for patients with AML, consisting of daunorubicin and ara-C in conventional doses, results in a complete remission (CR) rate of 50-60% in an unselected population and a long-..
  76. ncbi Transport function and hepatocellular localization of mrp6 in rat liver
    J Madon
    Division of Clinical Pharmacology, Department of Medicine, University Hospital, Zurich, Switzerland
    Mol Pharmacol 57:634-41. 2000
    ..We investigated the transport function and subcellular localization of mrp6, a novel member of the mrp family, in rat liver...
  77. ncbi Evaluation of the effect of medroxyprogesterone acetate on bone marrow progenitor cells
    P Pedrazzoli
    Divisione di Oncologia, Fondazione Clinica del Lavoro, Pavia, Italy
    Tumori 77:399-402. 1991
    ..with various doses of MPA and subsequently treated with or without the S-phase-specific drug arabinoside-cytosine (Ara-C)...
  78. ncbi [Prevention of infections in a case with myelodysplastic syndrome by an intermittent subcutaneous administration of G-CSF]
    Y Saburi
    Department of Internal Medicine, Almeida Hospital of Oita City Medical Association, Japan
    Kansenshogaku Zasshi 70:506-11. 1996
    ..with excess of blasts (RAEB) of the myelodysplastic syndrome (MDS) was made and therapy with low dose Cytarabine (Ara-C) was initiated in April 1993. The patient had two episodes of severe pneumonia in June and July...
  79. ncbi Sub-ambient temperature effects on the separation of monosaccharides by high-performance anion-exchange chromatography with pulse amperometric detection. Application to marine chemistry
    C Panagiotopoulos
    Laboratoire de Microbiologie Marine, CNRS-INSU UMR 6117, , , France
    J Chromatogr A 920:13-22. 2001
    ..C and an eluent concentration of 19 mM are the more appropriate conditions for an acceptable separation (R(s rha/ara) = 1.02, R(s man/xyl) = 0.70) in a short analytical run time (35 min)...
  80. ncbi Quality of life during induction treatment of acute myeloid leukaemia. A comparison of three intensive chemotherapy regimens using three instruments for quality of life assessment
    A M Stalfelt
    Orebro Medical Center Hospital, Sweden
    Acta Oncol 33:477-85. 1994
    ..AML) over time, 22 patients who had received induction treatment with POCAL (prednisone, vincristine, doxorubicin, Ara-C, thioguanine), MEA (mitoxantrone, etoposide, Ara-C) or TAD (daunorubicin, Ara-C, thioguanine) chemotherapy ..
  81. ncbi Pharmacology of combination chemotherapy of cytosine arabinoside (ara-C) and uracil arabinoside (ara-U) or tetrahydrouridine (THU) against murine leukemia L1210/0 in tumor-bearing mice
    V I Avramis
    Department of Pediatrics, USC School of Medicine, Childrens Hospital of Los Angeles 90027
    Cancer Invest 5:293-9. 1987
    Deamination of cytosine arabinoside (ara-C) by cytidine deaminase (Cyt DA) is the main mode of the inactivation of this drug in vivo...
  82. ncbi Visual, cognitive, and language assessments at 39 months: a follow-up study of children fed formulas containing long-chain polyunsaturated fatty acids to 1 year of age
    Nancy Auestad
    Ross Products Division, Abbott Laboratories, Columbus, Ohio 43215, USA
    Pediatrics 112:e177-83. 2003
    Docosahexaenoic acid (DHA) and arachidonic acid (ARA) are long-chain polyunsaturated fatty acids found in breast milk and recently added to infant formulas...
  83. ncbi Pharmacokinetics of nimustine, cytosine arabinoside, and methotrexate in cerebrospinal fluid during cerebrospinal fluid perfusion chemotherapy
    N Morikawa
    Department of Clinical Pharmacy, Oita Medical University, Japan
    Biol Pharm Bull 24:436-8. 2001
    This report investigates the pharmacokinetics of nimustine (ACNU), cytosine arabinoside (Ara-C), and methotrexate (MTX) in cerebrospinal fluid (CSF) during CSF perfusion chemotherapy...
  84. ncbi Apoptosis- and necrosis-inducing potential of cladribine, cytarabine, cisplatin, and 5-fluorouracil in vitro: a quantitative pharmacodynamic model
    H J Guchelaar
    Department of Pharmacy, Academic Medical Center, University of Amsterdam, The Netherlands
    Cancer Chemother Pharmacol 42:77-83. 1998
    ..The purpose of this study was to characterize the concentration-dependent induction of apoptosis by anticancer drugs in vitro...
  85. ncbi Phase II trial of cytarabine, cisplatin and vindesine for advanced non-small cell lung cancer
    A Bianco
    , Mar del Plata, Argentina
    Tumori 76:35-7. 1990
    ..v.) on days 1-3; vindesine (V) 3 mg/m2 i.v. on day 1, and cytarabine (ara-C) 15 mg/m2 subcutaneously every 12 hours on days 1-3 (total dose: 90 mg/m2)...
  86. ncbi Pharmacokinetics of cytosine arabinoside, methotrexate, nimustine and valproic acid in cerebrospinal fluid during cerebrospinal fluid perfusion chemotherapy
    N Morikawa
    Department of Clinical Pharmacy, Oita Medical University, Japan
    Biol Pharm Bull 23:784-7. 2000
    This report investigates the pharmacokinetics of cytosine arabinoside (Ara-C), methotrexate (MTX), nimustine (ACNU) and valproic acid (VPA) in cerebrospinal fluid (CSF) during CSF perfusion chemotherapy...
  87. ncbi The role of cytidine deaminase and GATA1 mutations in the increased cytosine arabinoside sensitivity of Down syndrome myeloblasts and leukemia cell lines
    Yubin Ge
    Experimental and Clinical Therapeutics Program, Barbara Ann Karmanos Cancer Institute, Division of Pediatric Hematology Oncology, Children s Hospital of Michigan, Detroit, Michigan, USA
    Cancer Res 64:728-35. 2004
    ..with acute myeloid leukemia (AML) are significantly more sensitive in vitro to 1-beta-D-arabinofuranosylcytosine (ara-C) and generate higher 1-beta-D-arabinofuranosylcytosine 5'-triphosphate (ara-CTP) than non-DS AML myeloblasts...
  88. ncbi Effect of dietary lipids on plasma fatty acid profiles and prostaglandin and leptin production in gilthead seabream (Sparus aurata)
    R Ganga
    Grupo de Investigación en Acuicultura ULPGC and ICCM P O Box 56, 35200, Telde, Las Palmas, Canary Islands, Spain
    Comp Biochem Physiol B Biochem Mol Biol 142:410-8. 2005
    ..Fatty acid composition of plasma lipids was markedly affected by the inclusion of vegetable oils (VO). ARA (arachidonate), EPA (eicosapentaenoate) and DHA (docosahexaenoate) were preferentially incorporated into polar ..
  89. ncbi Cellular and clinical pharmacology of fludarabine
    Varsha Gandhi
    Department of Experimental Therapeutics, The University of Texas M D Anderson Cancer Center, Houston, Texas 77030, USA
    Clin Pharmacokinet 41:93-103. 2002
    ..Fludarabine is a prodrug that is converted to the free nucleoside 9-beta-D-arabinosyl-2-fluoroadenine (F-ara-A) which enters cells and accumulates mainly as the 5'-triphosphate, F-ara-ATP...
  90. doi Intracellular cytarabine triphosphate production correlates to deoxycytidine kinase/cytosolic 5'-nucleotidase II expression ratio in primary acute myeloid leukemia cells
    Takahiro Yamauchi
    Department of Hematology and Oncology, Faculty of Medical Sciences, University of Fukui, Eiheiji, Fukui, Japan
    Biochem Pharmacol 77:1780-6. 2009
    Cytarabine (ara-C) is the key agent for treating acute myeloid leukemia (AML)...
  91. ncbi Mutagenicity testing in Salmonella typhimurium strains possessing both the His reversion and Ara forward mutation systems and different levels of classical nitroreductase or O-acetyltransferase activities
    J Jurado
    , Facultad de Ciencias, , Spain
    Environ Mol Mutagen 23:286-93. 1994
    ..The BA bacteria carry the araD531 allele required for the Ara assay and a his auxotrophy (hisD3052 or hisG46) required for the His assay...
  92. ncbi Clinical pharmacology of 1-beta-D-arabinofuranosylcytosine-5'-stearylphosphate, an orally administered long-acting derivative of low-dose 1-beta-D-arabinofuranosylcytosine
    T Ueda
    First Department of Medicine, Fukui Medical School, Japan
    Cancer Res 54:109-13. 1994
    1-beta-D-Arabinofuranosylcytosine-5'-stearylphosphate (cytarabine ocfosfate, stearyl-ara-CMP) is a newly synthesized 5'-alkylphosphate derivative of 1-beta-D-arabinofuranosylcytosine (ara-C), which is lipophilic, resistant to ..
  93. ncbi Treatment of primary or metastatic pleural effusion with intracavitary cytosine arabinoside and cisplatin. A phase II study
    E Aitini
    Department of Medical Oncology, Ospedale Carlo Poma, Mantova, Italy
    Acta Oncol 33:191-4. 1994
    ..The treatment was based on biochemical and clinical studies which show a synergy between cytosine-arabinoside (Ara-C) and cisplatin...
  94. ncbi Synergistic cytotoxicity of recombinant human TNF and various anti-cancer drugs
    N Watanabe
    Department of Internal Medicine, Sapporo Medical College, Japan
    Immunopharmacol Immunotoxicol 10:117-27. 1988
    ..of rH-TNF against L-M cells in combination with Mitomycin C (MMC), Adriamycin (ADM), Cytosine arabinoside (Ara-C), Actinomycin D (ACD), Daunomycin (DM), Cisplatin (CDDP), Vincristine (VCR), and 5-Fluorouracil (5FU), based on ..
  95. ncbi Antileukemic activity studies and cellular pharmacology of the analogues of 2-hydroxy-1H-isoindole-1,3-dione (HISD) alone and in combination with cytosine arabinoside (ara-C) against human leukemia cells CEM/0
    P Nandy
    School of Pharmacy, Department of Pharmaceutical Sciences, University of Southern California, Los Angeles
    Acta Oncol 33:953-61. 1994
    ..seven new compounds of the PL series, three were found to be active in cell lines sensitive (CEM/0) or resistant to ara-C (CEM/ara-C/7A; CEM/dCk[-]...
  96. ncbi Pharmacodynamic and DNA methylation studies of high-dose 1-beta-D-arabinofuranosyl cytosine before and after in vivo 5-azacytidine treatment in pediatric patients with refractory acute lymphocytic leukemia
    V I Avramis
    Department of Pediatrics, School of Medicine, University of Southern California, Childrens Hospital of Los Angeles 90027
    Cancer Chemother Pharmacol 24:203-10. 1989
    The primary development of clinical resistance to 1-beta-D-arabinofuranosyl cytosine (ara-C) in leukemic blast cells is expressed as decreased cellular concentrations of its active anabolite...
  97. ncbi Modulation of 1-[beta-D-arabinofuranosyl] cytosine-induced apoptosis in human myeloid leukemia cells by staurosporine and other pharmacological inhibitors of protein kinase C
    S Grant
    Department of Medicine, Medical College of Virginia, Richmond 23298 0230
    Oncol Res 6:87-99. 1994
    ..inhibitors of protein kinase C (PKC) on the capacity of a 6-h exposure to 1-[beta-D-arabinofuranosyl]cytosine (ara-C; 10 microM) to induce apoptotic DNA fragmentation and cell death in the human myeloid leukemia cell lines HL-60 ..
  98. ncbi Granulocyte-macrophage colony-stimulating factor and interleukin-3 enhance the incorporation of cytosine arabinoside into the DNA of leukemic blasts and the cytotoxic effect on clonogenic cells from patients with acute myeloid leukemia
    W Hiddemann
    Department of Internal Medicine, University of Munster, Germany
    Semin Oncol 19:31-7. 1992
    ..on the intracellular metabolism and cytotoxic efficacy of a subsequent 12-hour application of cytosine arabinoside (ara-C) at doses of 0.1, 1.0, 10.0, and 100...
  99. ncbi Taxotere and vincristine inhibit the secretion of the angiogenesis inducing vascular endothelial growth factor (VEGF) by wild-type and drug-resistant human leukemia T-cell lines
    I A Avramis
    Department of Pediatrics, USC Keck School of Medicine, Childrens Hospital Los Angeles, CA 90027, USA
    Anticancer Res 21:2281-6. 2001
    ..model consisting of T-lymphoblastic CEM/0, 7 monoclonal refractory clones resistant to both cytosine arabinoside (ara-C) and L-asparaginase (ASNase), Jurkat/E6-1 and U937, representing the leukemic blasts from relapsed patients with ..
  100. ncbi Modulation of metabolism and cytotoxicity of cytosine arabinoside with N-(phosphon)-acetyl-L-aspartate in human leukemic blast cells and cell lines
    P Noordhuis
    Department of Oncology, Free University Hospital, Amsterdam, The Netherlands
    Leuk Res 20:127-34. 1996
    Cytosine arabinoside (Ara-C) activation to cytosine arabinoside triphosphate (Ara-CTP) and subsequent incorporation into DNA is regulated by the pyrimidine nucleotides UTP, CTP and dCTP...
  101. ncbi Accumulation of arabinosyluracil 5'-triphosphate during arabinosylcytosine therapy in circulating blasts of patients with acute myelogenous leukemia
    V Gandhi
    Department of Clinical Investigation, The University of Texas M D Anderson Cancer Center, Houston 77030, USA
    Clin Cancer Res 4:1719-26. 1998
    Arabinosylcytosine (ara-C) is the most effective nucleoside analogue for treatment of acute myelogenous leukemia. The cytotoxicity of ara-C depends on its conversion to the triphosphate ara-CTP...

Research Grants66

  1. Stanley Pounds; Fiscal Year: 2016
    The nucleoside analog cytarabine (ara-C) has been the mainstay of acute myeloid leukemia (AML) chemotherapy for more than 40 years and is one of the most important drugs used to induce remission in patients with AML...
  2. GTI-2040: An anti-sense strategy to reduce ribonucleotide reductase in AML
    GUIDO contact MARCUCCI; Fiscal Year: 2010
    ..newly synthesized DNA and, when over expressed in leukemia cells, induces resistance to cytarabine arabinoside (Ara-C), a nucleoside analog and backbone component of several up-front and salvage regimens in AML...
  3. IRINOTECAN AND CYTARABINE IN ACUTE MYELOID LEUKEMIA
    Maria Baer; Fiscal Year: 2001
    ..synergistic drug interaction which has been found for CPT-11 and 5-FU also applies to CPT-11 in combination with Ara-C...
  4. Sharyn D Baker; Fiscal Year: 2016
    ..Since cytarabine (Ara-C) is one of the most effective agents for the treatment of AML and is therefore included in every modern AML ..
  5. P I/II Intraventricular DepoCyt (OD # 06-2348) in Glioblastoma (76,730, 11/06)
    BRUCE MICHAEL FRANKEL; Fiscal Year: 2010
    ..future recurrences of GBM and propose targeting SVZ progenitor cells with intraventricular liposomal encapsulated Ara-C (DepoCyt)...
  6. Jouni Uitto; Fiscal Year: 2016
    ..PXE is caused by mutations in the ABCC6 gene, encoding an efflux transporter expressed primarily in the liver...
  7. Jouni Uitto; Fiscal Year: 2016
    ..Our research in the past, supported by this NIH grant, has led to identification of ABCC6 as the gene harboring mutations in PXE...
  8. KATHLEEN LUCILE BERKNER; Fiscal Year: 2016
    ..Mutations have recently also been shown to cause a second disease, pseudoxanthoma elasticum (PXE), where bleeding is mild but calcification is defective...
  9. Translational Opportunities for the Heritable Disorders of Connective Tissue
    Lynn Y Sakai; Fiscal Year: 2011
    ..Others in the Coalition include the Osteogenesis Imperfecta Foundation, Pseudoxanthoma Elasticum (PXE) International, Dystrophic Epidermolysis Bullosa Research Association of America (DebRA), the Ehlers-Danlos ..
  10. Pseudoxanthoma Elasticum Research 2010 Conference
    Sharon F Terry; Fiscal Year: 2011
    DESCRIPTION (provided by applicant): This grant application requests partial support for a Conference, entitled "PXE Research 2010"...
  11. Pseudoxanthoma elasticum: Elastic fibers alterations and characterization of seru
    Olivier Le Saux; Fiscal Year: 2010
    ..long thought to be a prototypic connective tissue disease but the PXE phenotype was unexpectedly linked to a gene (ABCC6) apparently unrelated to elastic fibers...
  12. Stem-cell Based Therapy for Pseudoxanthoma Elasticum
    Qiujie Jiang; Fiscal Year: 2013
    ..This heritable disease is caused by mutations in the ABCC6 gene, which is highly expressed in the liver and the kidneys and serves as a metabolic transmembrane transporter...
  13. Olivier Le Saux; Fiscal Year: 2015
    ..Loss-of-function mutations in the ABCC6 gene cause chronic or acute forms of dystrophic mineralization in diseases such as Pseudoxanthoma elasticum (PXE) ..
  14. ELASTIC FIBER DEFECTS IN PSEUDOXANTHOMA ELASTICUM
    Charles Boyd; Fiscal Year: 2002
    ..elastic fiber defects in a heritable disorder of cutaneous, vascular and ocular tissue, pseudoxanthoma elasticum (PXE)...
  15. PXE 2004 Research Meeting
    Sharon Terry; Fiscal Year: 2004
    This grant application requests partial support for a Symposium, entitled "PXE Research 2004". The meeting will be held October 13 and 14, 2004 at the Pooks Hill Marriott, Bethesda, MD, a handicapped accessible hotel...
  16. Harvey J Murff; Fiscal Year: 2014
    ..This ratio is important because the n-6 PUFA, arachidonic acid (ARA), is converted via the cyclo-oxygenase pathway to prostaglandin E2 (PGE2), an inflammatory eicosanoid aberrantly ..
  17. Plerixafor/G-CSF with Sorafenib for Acute Myelogenous Leukemia with FLT3-ITD Muta
    MICHAEL W ANDREEFF; Fiscal Year: 2012
    ..IC502nM) with high clinical activity in Phase 1 studies as a single agent, and in combination with Idarubicin and Ara-C3...
  18. Acute Coronary Syndrome animal model
    Hongyu Qiu; Fiscal Year: 2012
    ..Our preliminary data indicate that an adenylyl cyclase type 5 (AC5) inhibitor, vidarabine (also known as Ara-A, AraAde, and Vira-A) appears to reduce infarct size when administered after coronary artery reperfusion (see ..
  19. Ahmet B Inceoglu; Fiscal Year: 2014
    ..The arachidonic acid (ARA) cascade is a pivotal inflammatory pain pathway, and many studies addressed the cyclooxygenase (cox) and ..
  20. Stephen C Dreskin; Fiscal Year: 2015
    ..will capitalize on three significant findings from our group: 1) the related and complementary 2S albumins, Ara h 2 and Ara h 6, are the most potent peanut allergens, 2) binding of IgE to two specific linear epitopes (one on ..
  21. RADIATION CYTOGENETICS
    Joel Bedford; Fiscal Year: 1993
    ..Studies on the inhibition of rejoining or increased expression of x-ray induced PCC breaks using anisotonic salt, ara-A, and caffeine treatments would also be undertaken with emphasis on the relationship of the effects observed to ..
  22. IONTOPHORESIS OF ANTIVIRALS TO HERPES EYE INFECTIONS
    James Hill; Fiscal Year: 1980
    ..We have found that iontophoresis of 9-beta-D-arabinofuranosyladenine-5'-monophsophate (Ara-AMP) to herpes simplex virus (HSV) lesions in animals has superior drug efficacy compared to topical application of ..
  23. AZIDE TECHNOLOGY FOR DRUG DEVELOPMENT
    Kyoichi Watanabe; Fiscal Year: 2001
    ..arabinoside can be reduced by NADPH- cytochrome P450 reductase to adenine arabinoside (arabinosyl adenine, ara-A or Vidarabine)...
  24. BIOSYNTHESIS OF ARA-A, 2'-DEOXYCOFORMYCIN AND ANALOGUES
    David Baker; Fiscal Year: 1992
    ..Suhadolnik to elucidate the biosynthetic pathways to a group of medicinally important nucleosides, which includes ara-A and 2'- deoxycoformycin (2'-dCF)...
  25. DISRUPTION OF DNA FUNCTION BY TG INCORPORATION
    Jonathan Maybaum; Fiscal Year: 1990
    ..In addition to TG, substitutions will be performed using ara-C, ara-A or bromodeoxyuridine. 2. Testing the biological effects of sequence-specific substitution...
  26. SYNTHETIC MASKED NUCLEOSIDES FOR ANTICANCER STUDIES
    Kyoichi Watanabe; Fiscal Year: 1992
    On the basis of findings at this Institute that: (a) several 2'- fluoro-5-substitute ara-C nucleosides designed and synthesized under this grant exhibited exceptionally marked and selective antiherpetic activity, both in vitro and in ..
  27. NEW SOURCE OF ARACHIDONIC ACID FOR INFANT FORMULA
    DAVID KYLE; Fiscal Year: 1992
    ..Consequently, this is a period of peak demand for arachidonic acid (ARA), a long chain polyunsaturated fatty acid (PUFA) that is a major structural lipid in peripheral and organ tissues...
  28. THE ACTION OF ARA-C AND 5-AZA-C ON MEMBRANE SYNTHESIS
    CAROLE JELSEMA; Fiscal Year: 1980
    ..Current mechanisms for the cytotoxic action of these cytosine analogs implicate the phosphorylated intermediates ara-CTP and 5-aza-CTP as the active agents...
  29. Clofarabine: Cytarabine Activation for Leukemia Response
    Stefan Faderl; Fiscal Year: 2004
    The goal of this proposal is to further characterize the role of clofarabine in combination with cytarabine (ara-C) in the treatment of patients with acute leukemias who have relapsed or have become refractory to conventional therapy...
  30. Visualization of Pelvic Floor Reflexes
    CHRISTOS EURIPIDES CONSTANTINOU; Fiscal Year: 2010
    ..the activities of an anatomical triangle comprising of the Urethra-Vesical Junction (UVJ), Ano-Rectal Angle (ARA) and Symphysis Pubis (SP)...
  31. WILLIAM BRYSON CAMPBELL; Fiscal Year: 2014
    ..We have identified a 15-lipoxygenase (LO) metabolite of ara- chidonic acid, 11(R),12(S),15(S)-trihydroxy-eicosatrienoic acid (11,12,15-THETA), that acts as an EDHF...
  32. Ribonucleotide Reductase Antisense Strategy in AML
    Guido Marcucci; Fiscal Year: 2004
    ..to explore the activity of a novel ribonucleotide reductase (RR) antisense, GTI-2040, in combination with high-dose ARA-C (cytarabine arabinoside) in refractory or relapsed AML...
  33. Masato Nakafuku; Fiscal Year: 2016
    ..5-bromo-2'deoxyuridine (BrdU) combined with treatment with the anti-mitotic agent b-D-arabinofuranoside (Ara-C) and various growth factors, and 3) clonal cell culture assays...
  34. John F DiPersio; Fiscal Year: 2015
    ..G-CSF+AMD3100 will be administered prior to mitoxantrone-etoposide-high dose Ara-C (MEC) salvage chemotherapy to optimally mobilize leukemic blasts, thus sensitizing the AML blasts to MEC ..
  35. William B Rizzo; Fiscal Year: 2016
    ..Patient support organizations (Smith Lemli Opitz/RSH Foundation, Hide and Seek Foundation, Ara Parseghian Medical Research Foundation, Dana's Angels Research Trust, Foundation for Ichthyosis and Related ..
  36. Stem Cells in the Adult Hippocampus
    Nathan A DeCarolis; Fiscal Year: 2010
    ..proliferation by voluntary exercise or after chemical ablation of cell proliferation by an anti-mitotic compound, Ara-C...
  37. Pharmacogenomics of cytosine arabinoside (Ara-C) and acute myelogenous leukemia
    Richard M Weinshilboum; Fiscal Year: 2013
    ABSTRACT Cytosine arabinoside (Ara-C) is the single most effective drug used in the treatment of acute myelogenous leukemia (AML). However, Ara-C efficacy and toxicity vary widely among patients with this disease...
  38. Biosynthesis and function of ABC transporters
    Patrick H Thibodeau; Fiscal Year: 2010
    ..purification and biophysical characterization of the isolated NBD proteins from CFTR and two homologues (human ABCC6 and the bacterial Mj0796)...
  39. Mark Lebwohl; Fiscal Year: 2014
    ..is to assess the efficacy of magnesium oxide on the reversal of elastic fiber calcification and clinical lesions of PXE. To achieve this goal, this proposal outlines three specific aims...
  40. Function of the MRP Family
    James M Gallo; Fiscal Year: 2013
    ..on the analysis of the in vivo functions of MRP3 and MRP4, and on the elucidation of the functional properties of MRP6, MRP7 and MRP8...
  41. Function of the MRP Family
    Gary D Kruh; Fiscal Year: 2010
    ..on the analysis of the in vivo functions of MRP3 and MRP4, and on the elucidation of the functional properties of MRP6, MRP7 and MRP8...
  42. Alan M Fogelman; Fiscal Year: 2016
    ..Project 3 will focus on Matrix Gla Protein (MGP) and the hepatic ABC transporter 6 (Abcc6) to determine the molecular mechanisms regulating vascular calcification and atherosclerosis...
  43. Identification Of Proteins Responsible For Peanut Allergenicity
    Fred Finkelman; Fiscal Year: 2009
    ..that may contribute to its allergenicity: resistance to digestion and the ability of the major peanut allergen, Ara h1 to promote a Th2 response by binding to ICAM-1-grabbing non-integrin on dendritic cells...
  44. MOLECULAR MECHANISM OF REGULATION OF THE LUX REGULON
    Thomas Baldwin; Fiscal Year: 1991
    ..While there are similarities between the design of the lux system and other systems in E. coli, especially the ara C-BAD, mal T-PQ, and asn C-A regulons of E...
  45. Allergen???Fc-gamma1 proteins to treat food allergy
    NOLAN contact SIGAL; Fiscal Year: 2010
    ..We propose to develop and test a peanut allergen (Ara h2)-human Fc(1 chimeric fusion protein as the prototype model for an entire platform of novel allergen-Fc(1 ..
  46. MECHANISM UNDERLYING DCYVD MEDIATED PREFERENTIAL STIMULA
    Kapil Bhalla; Fiscal Year: 1993
    ..the former from the lethal actions of certain pyrimidine antagonists, particularly 1-B- D-arabinofuranosylcytosine (Ara-C)...
  47. RHEUMATOID ARTHRITIS
    C Kwoh; Fiscal Year: 1993
    ..e., having RA by 1987 ARA criteria)...
  48. REPRESSION OF T CELL ACTIVATION BY ENDOCANNABINOIDS
    Norbert Kaminski; Fiscal Year: 2003
    ..with respect to immune modulation are arachidonylethanolamide (anandamide; Ana) and 2-arachidonyl- glycerol (2-Ara-Gl). Both ligands bind to CB1 and CB2 and induce a variety of cannabimimetic responses...
  49. DEVELOPMENT OF POTENTIAL NEW AGENTS AGAINST MELANOMA
    Andre Rosowsky; Fiscal Year: 1980
    ..Classes of agents that will be synthesized and studied include: (1) Analogs of ara-C for use against ara-C resistant melanomas in which resistance is linked to an unfavorable ratio of kinase to ..
  50. Enhancing the efficacy of nucleoside analogs
    Arnon Lavie; Fiscal Year: 2009
    ..Nucleoside analogues (NAs), including arabinosyl cytosine (ara-C), fludarabine, cladribine, pentostatin, and more recently gemcitabine, troxcitabine and arabinosyl guanine (ara-G)..
  51. CLINICAL BIOCHEMICAL PHARMACOLOGY IN CANCER THERAPEUTICS
    Patrick Creaven; Fiscal Year: 1991
    ..Determinants of response to cytosine arabinoside (Ara-C) including high dose Ara- C and related antimetabolites will be evaluated in patients receiving this drug for the ..
  52. ARE 'CRYPTIC MUTAGENS' MUTAGENIC IN THE ARA TEST?
    HERMAN BROCKMAN; Fiscal Year: 1991
    ..in another short-term test for genotoxicity in Salmonella-- a forward-mutation test for arabinose resistance (Ara test)...
  53. Cystathionine B Synthase and ARA C Therapy for Leukemia
    JEFFREY TAUB; Fiscal Year: 2005
    ..of the chromosome 21-localized gene, cystathionine-beta- synthase (CBS) and response to cytosine arabinoside (ara-C)-based therapy...
  54. GENETICS OF ALZHEIMER'S DISEASE IN ISRAELI ARABS
    ROBERT FRIEDLAND; Fiscal Year: 2004
    ..from the Applicant's Abstract): In a population based study of AD, we have screened all elderly residents of Wadi Ara, an Arab community near Tel Aviv in northern Israel, and observed an unusually high prevalence (20...
  55. CELLULAR MECHANISMS OF DRUG TRANSPORT IN CHOROID PLEXUS
    Kathleen Giacomini; Fiscal Year: 2002
    Nucleosides (e.g., adenosine) and synthetic nucleoside analogs (e.g., cytosine arabinoside (Ara-C) and 2',3'-dideoxyinosine (ddI)) are being used in the treatment of a wide array of disease states including cancer, viral infections, and ..
  56. IONTOPHORESIS OF ARA-AMP TO HERPES VIRUS LESIONS
    James Hill; Fiscal Year: 1980
    To determine the therapeutic efficacy of iontophoretic application of Ara-AMP, Ara-T, Ara-TMP, and ACG for the treatment of HSV-1 iritis (uveitis) in rabbit eyes...
  57. NUCLEOSIDE TRANSPORTERS--STRUCTURE/FUNCTION AND REGULATI
    Chung Ming Tse; Fiscal Year: 2004
    ..Nucleoside drugs are used in chemotherapy (eg. Ara C in leukemia) and as antiviral agents (eg. AZT in the treatment of AIDS)...
  58. IMMUNOMODULATION OF FOOD ALLERGY BY DNA BASED IMMUNITY
    Hugh Sampson; Fiscal Year: 2002
    ..b>Ara h 2 (17kD) is a major allergen in peanuts, and the T- cell response to Ara h2 appears to be dominant and common in ..
  59. Nucleoside Transporters: Pharmacology of hENT3 and hCNT3
    Chung Ming Tse; Fiscal Year: 2007
    ..Nucleoside drugs are clinically used in the treatment of cancer (eg. Ara C in leukemia) and viral diseases (eg AZT in AIDS)...
  60. ENHANCED CANCER THERAPEUTIC ACTIVITY BY HOST PROTECTION
    LYNN DANHAUSER; Fiscal Year: 1991
    ..b>Ara-C will be used as a model drug because of the gastrointestinal toxicity that is associated with its antitumor ..
  61. ADHERENCE IN RHEUMATOID ARTHRITIS--NURSING INTERVENTIONS
    Jacqueline Dunbar Jacob; Fiscal Year: 1992
    ..Two hundred and ten outpatients age 50 and over with RA of at least two years duration, according to 1987 ARA diagnostic criteria, adhering less than 80% will be randomized into one of three groups: Adherence Intervention ..
  62. P53 AND REPAIR OF DNA DAMAGE BY ANTICANCER DRUGS
    Peng Huang; Fiscal Year: 2002
    DESCRIPTION: (Applicant's Abstract) The incorporation of therapeutic nucleoside analogs (ara-C, gemcitabine, fludarabine) into DNA is the critical event in causing cytotoxicity to cancer cells...
  63. Phase II and Correlative Studies of Bryo/HiDAC
    Steven Grant; Fiscal Year: 2002
    ..the serine/threonine kinase protein kinase C, sensitizes human leukemia cells to 1 -B-D-arabinofuranosylcytosine (ara-C)-induced apoptosis in a dose- and schedule-dependent manner, resulting in synergistic antileukemic effects for ..
  64. DEOXYCYTIDINE KINASE CONTROL AND ARA-C RESISTANCE
    Vassilios Avramis; Fiscal Year: 1991
    ..3. Identify important genomic sequences involved in the transcriptional regulation of human dCK. 4. Determine whether sensitivity to araC is related to the level of dCK expression in human cell lines...
  65. TARGETING THE CXCR4-SDF1 AXIS AS THERAPY FOR RELAPSED/REFRACTORY AML
    John F DiPersio; Fiscal Year: 2010
    ..AMD3100 will be administered immediately prior to mitoxantrone-etoposide-high dose Ara-C (MEC) salvage chemotherapy, thus sensitizing the AML blasts to MEC chemotherapy...
  66. Incorporation of microRNA expression in pharmacogenetic prediction models
    Rong Stephanie Huang; Fiscal Year: 2010
    ..classes of cytotoxic agents: platinating agents (cisplatin and carboplatin) and antimetabolites (capecitabine and Ara-C), of which significant inter-ethnic differences in cellular sensitivity have been observed in vitro...