M Dean

Summary

Affiliation: National Cancer Institute
Country: USA

Publications

  1. ncbi ABC transporters, drug resistance, and cancer stem cells
    Michael Dean
    Laboratory of Experimental Immunology, Cancer and Inflammation Program, National Cancer Institute, Frederick, MD 21702, USA
    J Mammary Gland Biol Neoplasia 14:3-9. 2009
  2. ncbi The ABC transporter gene family of Daphnia pulex
    Armin Sturm
    Institute of Aquaculture, University of Stirling, Stirling, UK
    BMC Genomics 10:170. 2009
  3. ncbi Evolution of the ATP-binding cassette (ABC) transporter superfamily in vertebrates
    Michael Dean
    Human Genetics Section, Laboratory of Genomic Diversity, National Cancer Institute, Frederick, Maryland 21702, USA
    Annu Rev Genomics Hum Genet 6:123-42. 2005
  4. ncbi Tumour stem cells and drug resistance
    Michael Dean
    Laboratory of Genomic Diversity, National Cancer Institute Frederick, Frederick, Maryland 21702, USA
    Nat Rev Cancer 5:275-84. 2005
  5. ncbi Cancer stem cells: redefining the paradigm of cancer treatment strategies
    Michael Dean
    National Cancer Institute Frederick Cancer Research and Development Center, Bldg 560, Frederick, MD 21702, USA
    Mol Interv 6:140-8. 2006
  6. ncbi Approaches to identify genes for complex human diseases: lessons from Mendelian disorders
    Michael Dean
    Laboratory of Genomic Diversity, National Cancer Institute Frederick, Frederick, Maryland 21702, USA
    Hum Mutat 22:261-74. 2003
  7. ncbi Balanced polymorphism selected by genetic versus infectious human disease
    Michael Dean
    Laboratory of Genomic Diversity, Science Applications International Corporation, National Cancer Institute, Frederick, Maryland 21702 1201, USA
    Annu Rev Genomics Hum Genet 3:263-92. 2002
  8. ncbi The human ATP-binding cassette (ABC) transporter superfamily
    M Dean
    Human Genetics Section, Laboratory of Genomic Diversity, National Cancer Institute Frederick, Frederick, Maryland 21702, USA
    Genome Res 11:1156-66. 2001
  9. ncbi The human ATP-binding cassette (ABC) transporter superfamily
    M Dean
    Human Genetics Section, Laboratory of Genomic Diversity, National Cancer Institute Frederick, Bldg 560, Rm 21 18, Frederick, MD 21702, USA
    J Lipid Res 42:1007-17. 2001
  10. ncbi Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database
    R Allikmets
    Laboratory of Viral Carcinogenesis, National Cancer Institute, Frederick Cancer Research and Development Center, MD 21702, USA
    Hum Mol Genet 5:1649-55. 1996

Collaborators

Detail Information

Publications112 found, 100 shown here

  1. ncbi ABC transporters, drug resistance, and cancer stem cells
    Michael Dean
    Laboratory of Experimental Immunology, Cancer and Inflammation Program, National Cancer Institute, Frederick, MD 21702, USA
    J Mammary Gland Biol Neoplasia 14:3-9. 2009
    ..Gaining a better insight into the mechanisms of stem cell resistance to chemotherapy might therefore lead to new therapeutic targets and better anti-cancer strategies...
  2. ncbi The ABC transporter gene family of Daphnia pulex
    Armin Sturm
    Institute of Aquaculture, University of Stirling, Stirling, UK
    BMC Genomics 10:170. 2009
    ..We report here a genome-wide survey of ABC proteins of Daphnia pulex, providing for the first time information on ABC proteins in crustacea, a primarily aquatic arthropod subphylum of high ecological and economical importance...
  3. ncbi Evolution of the ATP-binding cassette (ABC) transporter superfamily in vertebrates
    Michael Dean
    Human Genetics Section, Laboratory of Genomic Diversity, National Cancer Institute, Frederick, Maryland 21702, USA
    Annu Rev Genomics Hum Genet 6:123-42. 2005
    ..Further characterization of all ABC transporters from the human genome and from model organisms will lead to additional insights into normal physiology and human disease...
  4. ncbi Tumour stem cells and drug resistance
    Michael Dean
    Laboratory of Genomic Diversity, National Cancer Institute Frederick, Frederick, Maryland 21702, USA
    Nat Rev Cancer 5:275-84. 2005
    ..Gaining a better insight into the mechanisms of stem-cell resistance to chemotherapy might therefore lead to new therapeutic targets and better anticancer strategies...
  5. ncbi Cancer stem cells: redefining the paradigm of cancer treatment strategies
    Michael Dean
    National Cancer Institute Frederick Cancer Research and Development Center, Bldg 560, Frederick, MD 21702, USA
    Mol Interv 6:140-8. 2006
    ..This scheme helps explain the failure of many cancer therapies, points out deficiencies in certain research approaches, and focuses the problem on a subset of cells that can be explicitly targeted, leading to more efficient therapy...
  6. ncbi Approaches to identify genes for complex human diseases: lessons from Mendelian disorders
    Michael Dean
    Laboratory of Genomic Diversity, National Cancer Institute Frederick, Frederick, Maryland 21702, USA
    Hum Mutat 22:261-74. 2003
    ..Improved analytical tools, phenotypic characterizations, and functional analyses will enable complete understanding of the genetic basis of complex diseases...
  7. ncbi Balanced polymorphism selected by genetic versus infectious human disease
    Michael Dean
    Laboratory of Genomic Diversity, Science Applications International Corporation, National Cancer Institute, Frederick, Maryland 21702 1201, USA
    Annu Rev Genomics Hum Genet 3:263-92. 2002
    ..The genome organization of the chemokine receptor and HLA gene clusters and their influence on the HIV/AIDS epidemic provides compelling evidence for the interaction of infectious and genetic diseases in recent human history...
  8. ncbi The human ATP-binding cassette (ABC) transporter superfamily
    M Dean
    Human Genetics Section, Laboratory of Genomic Diversity, National Cancer Institute Frederick, Frederick, Maryland 21702, USA
    Genome Res 11:1156-66. 2001
    ..Complete characterization of all ABC from the human genome and from model organisms will lead to important insights into the physiology and the molecular basis of many human disorders...
  9. ncbi The human ATP-binding cassette (ABC) transporter superfamily
    M Dean
    Human Genetics Section, Laboratory of Genomic Diversity, National Cancer Institute Frederick, Bldg 560, Rm 21 18, Frederick, MD 21702, USA
    J Lipid Res 42:1007-17. 2001
    ..Here, we review the current knowledge of the human ABC genes, their role in inherited disease, and understanding of the topology of these genes within the membrane...
  10. ncbi Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database
    R Allikmets
    Laboratory of Viral Carcinogenesis, National Cancer Institute, Frederick Cancer Research and Development Center, MD 21702, USA
    Hum Mol Genet 5:1649-55. 1996
    ....
  11. ncbi A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
    R Allikmets
    Laboratory of Genomic Diversity, SAIC Frederick, National Cancer Institute Frederick Cancer Research and Development Center, Maryland 21702 1201, USA
    Nat Genet 15:236-46. 1997
    ..Mutational analysis of ABCR in STGD families revealed a total of 19 different mutations including homozygous mutations in two families with consanguineous parentage. These data indicate that ABCR is the causal gene of STGD/FFM...
  12. ncbi An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus
    S Shulenin
    Laboratory of Genomic Diversity, NCI Frederick, Frederick MD, USA
    Cytogenet Cell Genet 92:204-8. 2001
    ..The abundant expression of this gene in the liver suggests that the protein product has an important role in transport of specific molecule(s) into or out of this tissue...
  13. ncbi Novel alleles of the chemokine-receptor gene CCR5
    M Carrington
    Intramural Research Support Program, Scientific Applications International Corporation Frederick, MD 21702, USA
    Am J Hum Genet 61:1261-7. 1997
    ....
  14. ncbi Human and mouse orthologs of a new ATP-binding cassette gene, ABCG4
    T Annilo
    Laboratory of Genomic Diversity, NCI FCRDC, Frederick, MD, USA
    Cytogenet Cell Genet 94:196-201. 2001
    ..The abundant expression of this gene in the brain and close evolutionary relationship to the other members of the subfamily suggests a potential role for ABCG4 in cholesterol transport processes in this tissue...
  15. ncbi An ATP-binding cassette gene (ABCG3) closely related to the multidrug transporter ABCG2 (MXR/ABCP) has an unusual ATP-binding domain
    L Mickley
    Medicine Branch, National Cancer Institute, NIH, Bethesda, Maryland 20892, USA
    Mamm Genome 12:86-8. 2001
  16. ncbi Organization of the ABCR gene: analysis of promoter and splice junction sequences
    R Allikmets
    Intramural Research Support Program, SAIC Frederick, Frederick, MD 21702, USA
    Gene 215:111-22. 1998
    ..These results will be useful in further mutational screening of the ABCR gene in various retinopathies and for determining the substrate and/or function of this photoreceptor-specific ABC transporter...
  17. ncbi Chromosomal localization of the human and murine orthologues of the Drosophila smoothened gene
    A Chidambaram
    Intramural Research Support Program, SAIC Frederick, Frederick, Maryland, 21702, USA
    Genomics 53:416-7. 1998
  18. ncbi Characterization of a human homolog (OVOL1) of the Drosophila ovo gene, which maps to chromosome 11q13
    A Chidambaram
    Intramural Research Support Program, National Cancer Institute, Frederick Cancer Research and Development Center, Maryland 21702, USA
    Mamm Genome 8:950-1. 1997
  19. ncbi Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
    R Allikmets
    Intramural Research Support Program, SAIC Frederick, NCI Frederick Cancer Research and Development Center, Frederick, MD 21702, USA
    Science 277:1805-7. 1997
    ..Identification of ABCR alterations will permit presymptomatic testing of high-risk individuals and may lead to earlier diagnosis of AMD and to new strategies for prevention and therapy...
  20. ncbi Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34
    T Annilo
    Human Genetics Section, Laboratory of Genomic Diversity, SAIC Frederick, NCI Frederick, Frederick, MD 21702, USA
    Cytogenet Genome Res 98:169-76. 2002
    ....
  21. ncbi Statistical estimation and pedigree analysis of CCR2-CCR5 haplotypes
    V J Clark
    Laboratory of Genomic Diversity, NCI at Frederick, MD 21702, USA
    Hum Genet 108:484-93. 2001
    ..For genetic epidemiology studies, CCR2-CCR5 allele and haplotype frequencies were determined in African-American (n=30), Hispanic (n=24) and European-American (n=34) populations...
  22. ncbi Use of denaturing HPLC to map human and murine genes and to validate single-nucleotide polymorphisms
    L M Schriml
    National Cancer Institute Frederick Cancer Research and Development Center, MD, USA
    Biotechniques 28:740-5. 2000
    ..The same approach has been applied to the mapping of murine genes in interspecies backcross animals. This strategy is rapid, accurate and superior in several respects to other technologies...
  23. ncbi Characterization of a YAC contig containing the NBCCS locus and a novel Kruppel-type zinc finger sequence on chromosome segment 9q22.3
    A Chidambaram
    Intramural Research Support Program, SAIC Frederick, National Cancer Institute, Frederick Cancer Research and Development Center, Frederick, Maryland, USA
    Genes Chromosomes Cancer 18:212-8. 1997
    ..We used the YAC contigs to identify a new zinc finger gene containing a highly informative microsatellite locus...
  24. ncbi Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies
    R Allikmets
    Intramural Research Support Program, SAIC Frederick, National Cancer Institute Frederick Cancer Research and Development Center, MD 21702 1201, USA
    Hum Genet 104:449-53. 1999
    ....
  25. ncbi Acquired mutations in the MXR/BCRP/ABCP gene alter substrate specificity in MXR/BCRP/ABCP-overexpressing cells
    Y Honjo
    Cancer Therapeutics Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland 20892, USA
    Cancer Res 61:6635-9. 2001
    ..These results suggest that amino acid 482 has a crucial role in MXR/BCRP/ABCP function and that mutation of a single amino acid residue significantly changes substrate specificity, thus altering the drug resistance phenotype...
  26. ncbi Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients
    A Chidambaram
    Intramural Research Support Program, Scientific Application International Corp, Frederick, Maryland 21702, USA
    Cancer Res 56:4599-601. 1996
    ..We report several mutations in this gene in NBCCS patients and present the clinical phenotypes of the individuals in whom these mutations were identified...
  27. ncbi Molecular cloning of cDNAs which are highly overexpressed in mitoxantrone-resistant cells: demonstration of homology to ABC transport genes
    K Miyake
    Medicine Branch, National Cancer Institute, NIH, Bethesda, Maryland 20892, USA
    Cancer Res 59:8-13. 1999
    ....
  28. ncbi Contrasting genetic influence of CCR2 and CCR5 variants on HIV-1 infection and disease progression. Hemophilia Growth and Development Study (HGDS), Multicenter AIDS Cohort Study (MACS), Multicenter Hemophilia Cohort Study (MHCS), San Francisco City Cohort
    M W Smith
    Science Applications International Corp Frederick, National Cancer Institute, Frederick, MD 21702 1201, USA
    Science 277:959-65. 1997
    ....
  29. ncbi Evolution of ATP-binding cassette transporter genes
    M Dean
    National Cancer Institute Frederick Cancer Research and Development Center, MD 21702 1201, USA
    Curr Opin Genet Dev 5:779-85. 1995
    ..By using gene disruption techniques and by studying homologous genes in model organisms, significant progress has been made during the last few years in evaluating the physiological functions of ABC proteins in higher eukaryotes...
  30. ncbi Naturally occurring CCR5 extracellular and transmembrane domain variants affect HIV-1 Co-receptor and ligand binding function
    O M Howard
    Intramural Research Support Program, SAIC Frederick, National Cancer Institute Frederick Cancer Research and Development Center, Frederick, Maryland 21702, USA
    J Biol Chem 274:16228-34. 1999
    ....
  31. ncbi A human placenta-specific ATP-binding cassette gene (ABCP) on chromosome 4q22 that is involved in multidrug resistance
    R Allikmets
    Intramural Research Support Program, Science Applications International Corporation Frederick, National Cancer Institute Frederick Cancer Research and Development Center, Maryland 21702 1201, USA
    Cancer Res 58:5337-9. 1998
    ..The abundant expression of this gene in the placenta suggests that the protein product has an important role in transport of specific molecule(s) into or out of this tissue...
  32. ncbi Identification of 18 mouse ABC genes and characterization of the ABC superfamily in Mus musculus
    L M Schriml
    Human Genetics Section, Laboratory of Genomic Diversity, National Cancer Institute Frederick Cancer Research and Development Center, Frederick, MD 21702, USA
    Genomics 64:24-31. 2000
    ..The mouse ABC genes could be grouped into the seven previously described human ABC subfamilies. Three mouse ABC genes mapped to regions implicated in cholesterol gallstone susceptibility...
  33. ncbi Mutational spectra of PTEN/MMAC1 gene: a tumor suppressor with lipid phosphatase activity
    I U Ali
    I U Ali, Division of Cancer Prevention, National Cancer Institute, Bethesda, MD 20892 7332, USA
    J Natl Cancer Inst 91:1922-32. 1999
    ..Further understanding of PTEN/MMAC1 gene mutations in different tumors and the physiologic consequences of these mutations is likely to open up new therapeutic opportunities for targeting this critical gene...
  34. ncbi Three ATP-binding cassette transporter genes, Abca14, Abca15, and Abca16, form a cluster on mouse Chromosome 7F3
    Zhang qun Chen
    Basic Research Program, SAIC Frederick, NCI Frederick, Maryland 21702, USA
    Mamm Genome 15:335-43. 2004
    ....
  35. ncbi C306A single nucleotide polymorphism in the human CEBPD gene that maps at 8p11.1-p11.2
    D Angeloni
    Laboratory of Immunobiology, National Cancer Institute at Frederick, Frederick, MD 21702, USA
    Mol Cell Probes 15:395-7. 2001
  36. ncbi Identification of P-glycoprotein/multidrug resistance genes from model organisms
    R Allikmets
    Laboratory of Viral Carcinogenesis, Program Resources Inc DynCorp, National Cancer Institute, Frederick Cancer Research and Development Center, MD 21702
    Leukemia 7:S13-7. 1993
    ..While the function of these sequences has not been determined, they may prove to be useful for developing a model to study the function of P-glycoproteins...
  37. ncbi Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)
    R Allikmets
    Intramural Research Support Program, SAIC Frederick and Laboratory of Genomic Diversity, National Cancer Institute, Building 560, Room 21 18, Frederick Cancer Research and Development Center, Frederick, MD 21702 1201, USA
    Hum Mol Genet 8:743-9. 1999
    ..These data indicate that ABC7 is the causal gene of XLSA/A and that XLSA/A is a mitochondrial disease caused by a mutation in the nuclear genome...
  38. ncbi Single-nucleotide polymorphism (SNP) analysis in the ABC half-transporter ABCG2 (MXR/BCRP/ABCP1)
    Yasumasa Honjo
    Cancer Therapeutics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA
    Cancer Biol Ther 1:696-702. 2002
    ..We conclude that ABCG2 is well conserved and that described amino acid polymorphisms seem unlikely to alter transporter stability or function...
  39. ncbi Fine mapping and functional analysis of a common variant in MSMB on chromosome 10q11.2 associated with prostate cancer susceptibility
    Hong Lou
    Laboratory of Experimental Immunology, Cancer and Inflammation Program, National Cancer Institute, Frederick, MD 21702, USA
    Proc Natl Acad Sci U S A 106:7933-8. 2009
    ..Further investigation is warranted to determine whether rs10993994 alone or in combination with additional variants contributes to prostate cancer susceptibility...
  40. ncbi Characterisation of SNP haplotype structure in chemokine and chemokine receptor genes using CEPH pedigrees and statistical estimation
    Vanessa J Clark
    Laboratory of Genomic Diversity, Human Genetics Section, National Cancer Institute, Frederick, MD 21702, USA
    Hum Genomics 1:195-207. 2004
    ....
  41. ncbi Haplotype structure and linkage disequilibrium in chemokine and chemokine receptor genes
    Vanessa J Clark
    Laboratory of Genomic Diversity, Human Genetics Section, National Cancer Institute, Frederick, MD 21702, USA
    Hum Genomics 1:255-73. 2004
    ....
  42. ncbi Evolution of the vertebrate ABC gene family: analysis of gene birth and death
    Tarmo Annilo
    Laboratory of Genomic Diversity, Building 560, Room 21-18, NCI-Frederick, Frederick, MD 21702, USA
    Genomics 88:1-11. 2006
    ..As many ABC genes are involved in human genetic diseases, and important drug transport phenotypes, the understanding of ABC gene evolution is important to the development of animal models and functional studies...
  43. ncbi Characterization and mapping of three new mammalian ATP-binding transporter genes from an EST database
    R Allikmets
    Laboratory of Viral Carcinogenesis, National Cancer Institute, Frederick Cancer Research and Development Center, Maryland 21702 1201, USA
    Mamm Genome 6:114-7. 1995
    ..Some drawbacks of using EST databases, including chimerism of cDNA clones, are discussed...
  44. ncbi Cancer as a complex developmental disorder--nineteenth Cornelius P. Rhoads Memorial Award Lecture
    M Dean
    Human Genetics Section, Laboratory of Genomic Diversity, National Cancer Institute Frederick Cancer Research and Development Center, Maryland 21702, USA
    Cancer Res 58:5633-6. 1998
    ..Approaches to identify common alleles in cancer-associated genes promise to increase our understanding of the disease and aid the rational design of preventative and therapeutic strategies...
  45. ncbi Cloning and organization of the abc and mdl genes of Escherichia coli: relationship to eukaryotic multidrug resistance
    R Allikmets
    Laboratory of Viral Carcinogenesis, National Cancer Institute, Frederick Cancer Research and Development Center, MD 21702
    Gene 136:231-6. 1993
    ..9 of the chromosome, encodes a single ATP-binding domain, and is most homologous to ftsE, a cell division control gene of E. coli. The abc gene product also shows aa sequence homology to several E. coli permeases...
  46. ncbi A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities
    H Hahn
    Human Genetics Section, Scientific Applications International Corporation Frederick, National Cancer Institute Frederick Cancer Research and Development Center, Maryland 21702, USA
    J Biol Chem 271:12125-8. 1996
    ..Human PATCHED maps to human chromosome 9q22.3, the candidate region for the nevoid basal cell carcinoma syndrome. Patched expression is compatible with the congenital defects observed in the nevoid basal cell carcinoma syndrome...
  47. ncbi Variants of CCR5, which are permissive for HIV-1 infection, show distinct functional responses to CCL3, CCL4 and CCL5
    H F Dong
    Basic Research Program, SAIC Frederick, MD 21702, USA
    Genes Immun 6:609-19. 2005
    ..In conclusion, our results support earlier studies showing that these naturally occurring point mutations do not limit HIV-1 infection, and indicated that single amino-acid changes can have unexpected functional consequences...
  48. ncbi Evolutionary analysis of a cluster of ATP-binding cassette (ABC) genes
    Tarmo Annilo
    Human Genetics Section, Laboratory of Genomic Diversity, NCI Frederick, Frederick, MD 21702, USA
    Mamm Genome 14:7-20. 2003
    ..In addition, we found that both mouse and human clusters show evidence of a number of gene conversions, in several cases involving intron sequences...
  49. ncbi Multidrug efflux pumps and cancer stem cells: insights into multidrug resistance and therapeutic development
    K Moitra
    Laboratory of Experimental Immunology, Human Genetics Section, Cancer and Inflammation Program, National Cancer Institute at Frederick, Frederick, Maryland, USA
    Clin Pharmacol Ther 89:491-502. 2011
    ....
  50. ncbi Complete characterization of the human ABC gene family
    M Dean
    Human Genetics Section, Laboratory of Genomic Diversity, NCI-Frederick, Maryland, USA
    J Bioenerg Biomembr 33:475-9. 2001
    ..Many ABC genes play a role in human genetic diseases, and several are critical drug transport proteins overexpressed in drug resistant cells. Analysis of the gene products allows the genes to be grouped into seven different subfamilies...
  51. ncbi cDNA cloning and mapping of mouse pleckstrin (Plek), a gene upregulated in transformation-resistant cells
    J L Cmarik
    Basic Research Laboratory, National Cancer Institute, Frederick, Maryland, 21702, USA
    Genomics 66:204-12. 2000
    ..We report the complete mouse cDNA sequence of pleckstrin and the localization of the gene to chromosome 11, its expression in a nonhematopoetic cell line, and its potential role in blocking neoplastic transformation...
  52. ncbi Two rare confounding polymorphisms proximal to the factor V Leiden mutation
    B Gold
    Quest Diagnostics, Van Nuys, CA, USA
    Mol Diagn 6:137-40. 2001
    ..Unfortunately, because this common mutation is 11 bp from the 3' end of exon 10, one PCR primer often anneals within intron 10. As a consequence, polymorphism can confound test results...
  53. ncbi The essential vertebrate ABCE1 protein interacts with eukaryotic initiation factors
    Zhang-qun Chen
    Basic Research Program, SAIC-Frederick Inc, National Cancer Institute, National Institutes of Health, Frederick, MD 21702, USA
    J Biol Chem 281:7452-7. 2006
    ..The evolutionary analysis supports a model in which an ancestral eukaryote had large number of introns and that many of these introns were lost in non-vertebrate lineages...
  54. ncbi The livestock photosensitizer, phytoporphyrin (phylloerythrin), is a substrate of the ATP-binding cassette transporter ABCG2
    Robert W Robey
    Medical Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA
    Res Vet Sci 81:345-9. 2006
    ..ABCG2 expression was confirmed by immunohistochemistry in the hepatocytes of cow, pig and sheep livers. We conclude that phytoporphyrin is a substrate for ABCG2 and that the transporter is likely responsible for its biliary excretion...
  55. ncbi Estrogen receptor genotypes and haplotypes associated with breast cancer risk
    Bert Gold
    Human Genetics Section, Laboratory of Genomic Diversity, National Cancer Institute at Frederick, Frederick, Maryland, USA
    Cancer Res 64:8891-900. 2004
    ..Genetic epidemiology study replication and functional assays of the haplotypes should permit a better understanding of the role of steroid receptor genetic variants and breast cancer risk...
  56. ncbi Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33
    Bert Gold
    Laboratory of Genomic Diversity, Human Genetics Section, National Cancer Institute Frederick, Frederick, MD 21702, USA
    Proc Natl Acad Sci U S A 105:4340-5. 2008
    ..Candidate genes in the 6q22.33 region include ECHDC1, which encodes a protein involved in mitochondrial fatty acid oxidation, and also RNF146, which encodes a ubiquitin protein ligase, both known pathways in breast cancer pathogenesis...
  57. ncbi A high-throughput cell-based assay for inhibitors of ABCG2 activity
    Curtis J Henrich
    Basic Research Program, SAIC Frederick, Inc, NCI Frederick, Frederick, MD 21702, USA
    J Biomol Screen 11:176-83. 2006
    ..2 microM) and, like FTC, restored sensitivity of resistant cells to mitoxantrone. Application of this assay to other libraries of synthetic compounds and natural products is expected to identify novel inhibitors of ABCG2 activity...
  58. ncbi Degeneration of an ATP-binding cassette transporter gene, ABCC13, in different mammalian lineages
    Tarmo Annilo
    Human Genetics Section, Laboratory of Genomic Diversity, National Cancer Institute Frederick, Building 560, Room 21 31, Frederick, MD 21702, USA
    Genomics 84:34-46. 2004
    ....
  59. ncbi Multilocus analysis of age-related macular degeneration
    Julie Bergeron-Sawitzke
    SAIC Frederick, Basic Science Program, Human Genetics Section, Frederick, MD 21702 1201, USA
    Eur J Hum Genet 17:1190-9. 2009
    ..These results also support previous findings that variants in the region of 10q26 exert an independent risk for AMD...
  60. ncbi ABCG2: a perspective
    Robert W Robey
    Medical Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Adv Drug Deliv Rev 61:3-13. 2009
    ..Work in pharmacology may eventually lead us to a greater understanding of the physiologic role of ABCG2...
  61. ncbi Comparison of 1D and 2D NMR spectroscopy for metabolic profiling
    Que N Van
    Laboratory of Proteomics and Analytical Technologies, Advanced Technology Program, SAIC Frederick, Inc, National Cancer Institute at Frederick, Frederick, Maryland 21702, USA
    J Proteome Res 7:630-9. 2008
    ..While acquisition of the 2D data require more time, the data obtained resulted in a more meaningful and comprehensive metabolic profile, aided in metabolite identifications, and minimized ambiguities in peak assignments...
  62. ncbi New inhibitors of ABCG2 identified by high-throughput screening
    Curtis J Henrich
    Basic Research Program, Science Applications International Corporation Frederick, Inc, Building 560, Room 32 63A, NCI Frederick, Frederick, MD 21702, USA
    Mol Cancer Ther 6:3271-8. 2007
    ..These five novel inhibitors of ABCG2 activity may provide a basis for further investigation of ABCG2 function and its relevance in multidrug resistance...
  63. ncbi Targeted therapy for cancer stem cells: the patched pathway and ABC transporters
    H Lou
    National Cancer Institute Frederick, Frederick, MD 21702, USA
    Oncogene 26:1357-60. 2007
    ..Efforts to target the Hedgehog/Patched pathway, critical to embryonic growth and differentiation, and the ABCG2 drug efflux transporter will be presented...
  64. ncbi Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype
    F Chen
    Program Resources, Inc DynCorp, National Cancer Institute Frederick Cancer Research and Development Center, Maryland 21702 1201, USA
    Hum Mutat 5:66-75. 1995
    ..The mutations identified in these families will be useful in presymptomatic diagnosis. The identification of mutations associated with phenotypes contributes to the understanding of fundamental genetic mechanisms of VHL disease...
  65. ncbi Characterization of a class 3 tyrosine kinase
    O M Howard
    Biological Carcinogenesis and Development Program, Program Resources, Inc DynCorp, Frederick, Maryland 21702
    Oncogene 7:895-900. 1992
    ..A human-hamster somatic cell hybrid panel and linkage mapping was used to assign JAK1 (aml-116) to human chromosome 1...
  66. ncbi Analysis of Mdr50: a Drosophila P-glycoprotein/multidrug resistance gene homolog
    B Gerrard
    Biological Carcinogenesis and Development Program, National Cancer Institute, Frederick Cancer Research and Development Center, Maryland 21702 1201
    Genomics 17:83-8. 1993
    ..Mdr50 represents the third MDR homolog identified in Drosophila. Conservation in the position of intervening sequences between Mdr50 and the human MDR genes provides further evidence for their common origin...
  67. ncbi An exhaustive DNA micro-satellite map of the human genome using high performance computing
    Jack R Collins
    Advanced Biomedical Computing Center, NCI-Frederick, Frederick, MD, USA
    Genomics 82:10-9. 2003
    ..Several of these are non-polyglutamine triplet repeats. Other examinations of the STR database demonstrated repeats spanning splice junctions and identified SNPs within repeat elements...
  68. ncbi C to A single nucleotide polymorphism in intron 18 of the human MST1R (RON) gene that maps at 3p21.3
    Debora Angeloni
    Laboratory of Immunobiology, National Cancer Institute at Frederick, Frederick, MD 21702 1201, USA
    Mol Cell Probes 17:55-7. 2003
    ..28 among African-American, 0.25 among Caucasian CEPH and 0.09 among Asian healthy individuals. During these studies, an alternatively spliced cDNA of MST1R, lacking exon 19, was also found that may result from this change...
  69. ncbi ABCA3 gene mutations in newborns with fatal surfactant deficiency
    Sergey Shulenin
    Human Genetics Section, Laboratory of Genomic Diversity, National Cancer Institute Frederick, Frederick, MD, USA
    N Engl J Med 350:1296-303. 2004
    ..The gene for ATP-binding cassette transporter A3 (ABCA3) is expressed in alveolar type II cells, and the protein is localized to lamellar bodies, suggesting that it has an important role in surfactant metabolism...
  70. ncbi Mutational analysis of ABCG2: role of the GXXXG motif
    Orsolya Polgar
    Cancer Therapeutics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, 9000 Rockville Pike, Bethesda, Maryland 20892, USA
    Biochemistry 43:9448-56. 2004
    ..These studies support a hypothesis that the GXXXG motif promotes proper packing of the transmembrane segments in the functional ABCG2 homodimer, although it does not solely arbitrate dimerization...
  71. ncbi Genetic factors leading to chronic Epstein-Barr virus infection and nasopharyngeal carcinoma in South East China: study design, methods and feasibility
    Xiu Chan Guo
    Laboratory of Genomic Diversity, SAIC Frederick, National Cancer Institute-Frederick, Frederick, MD 21702, USA
    Hum Genomics 2:365-75. 2006
    ....
  72. ncbi Microsomal epoxide hydrolase polymorphisms and risk for advanced colorectal adenoma
    Wen Yi Huang
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, EPS 8113, MSC 7240, Bethesda, MD 20892, USA
    Cancer Epidemiol Biomarkers Prev 14:152-7. 2005
    ..02). In conclusion, EPHX1 variants at codon 113 and 139 associated with high predicted enzymatic activity appear to increase risk for colorectal adenoma, particularly among recent and current smokers...
  73. ncbi CYP1A1 and GSTM1 polymorphisms in relation to lung cancer risk in Chinese women
    Xiaohong R Yang
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, 6120 Executive Blvd, Bethesda MD 20892, USA
    Cancer Lett 214:197-204. 2004
    ..In summary, our case-control study of lung cancer among women in northeast China revealed an elevated risk associated with the CYP1A1 I462V genotype, but no interaction with smoking or indoor air pollution was found...
  74. ncbi Allellic variants in regulatory regions of cyclooxygenase-2: association with advanced colorectal adenoma
    I U Ali
    Division for Cancer Prevention, National Cancer Institute, 6130 Executive Blvd, Bethesda, MD 20892, USA
    Br J Cancer 93:953-9. 2005
    ..Our analysis underscores the significance of the overall allelic architecture of Cox-2 as an important determinant for risk assessment...
  75. ncbi DHPLC screening of cystic fibrosis gene mutations
    Metka Ravnik-Glavac
    Human Genetics Section, Laboratory of Genomic Diversity, National Cancer Institute at Frederick, Frederick, Maryland, USA
    Hum Mutat 19:374-83. 2002
    ..Hum Mutat 19:374-383, 2002. Published 2002 Wiley-Liss, Inc...
  76. ncbi SMUCKLER/TIM4 is a distinct member of TIM family expressed by stromal cells of secondary lymphoid tissues and associated with lymphotoxin signaling
    Alexander N Shakhov
    Basic Research Program, SAIC Frederick, Inc, National Cancer Institute, Frederick, USA
    Eur J Immunol 34:494-503. 2004
    ..b1 and 5q33, respectively) and shows coding sequence variations between BALB/c and DBA mice. Therefore, SMUCKLER/TIM4 may be considered as a candidate disease-predisposition gene for asthma...
  77. ncbi Mutational studies of G553 in TM5 of ABCG2: a residue potentially involved in dimerization
    Orsolya Polgar
    Medical Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, 9000 Rockville Pike, Building 10, Room 13N240, Bethesda, Maryland 20892, USA
    Biochemistry 45:5251-60. 2006
    ..These data show that glycine 553 is important for protein trafficking and are consistent with, but do not yet prove, its involvement in ABCG2 homodimerization...
  78. ncbi Population distribution of the functional caspase-12 allele
    Kritika Kachapati
    Center for Cancer Research, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
    Hum Mutat 27:975. 2006
    ..In this study, Csp 12-L allele frequency ranged from 3.6% to 60.7% among populations from sub-Saharan Africa and was also present at low frequency among North African, Middle Eastern, and South Asian populations...
  79. ncbi Arginine 383 is a crucial residue in ABCG2 biogenesis
    Orsolya Polgar
    Medical Oncology Branch, National Cancer Institute, NIH, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Biochim Biophys Acta 1788:1434-43. 2009
    ..In conclusion, arginine 383 is a crucial residue for ABCG2 biogenesis, where even the most conservative mutations have a large impact...
  80. ncbi Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration
    Bert Gold
    Laboratory of Genomic Diversity, National Cancer Institute, Frederick, Maryland 21702, USA
    Nat Genet 38:458-62. 2006
    ..These data expand and refine our understanding of the genetic risk for AMD...
  81. ncbi Characterization of a new SNP c767A/T (Arg222Trp) in the candidate TSG FUS2 on human chromosome 3p21.3: prevalence in Asian populations and analysis of association with nasopharyngeal cancer
    Fuh Mei Duh
    Basic Research Program, SAIC Frederick, Inc, NCI Frederick, Frederick, MD 21702, USA
    Mol Cell Probes 18:39-44. 2004
    ..Our analysis, albeit limited, suggests no likely association between NPC and the FUS2 gene polymorphism. Further large-scale case-control studies are necessary and warranted to prove the strength of this contention...
  82. ncbi The genetics of ATP-binding cassette transporters
    Michael Dean
    Human Genetics Section, Laboratory of Genomic Diversity, National Cancer Institute, Frederick, Maryland, USA
    Methods Enzymol 400:409-29. 2005
    ..Further characterization of all ABC genes from humans and model organisms will lead to additional insights into normal physiology and human disease...
  83. ncbi UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy
    Michael L Nickerson
    Cancer and Inflammation Program, National Cancer Institute, National Institutes of Health, Frederick, Maryland, USA
    PLoS ONE 5:e10760. 2010
    ..We characterized lesions in the UBIAD1 gene in new SCD families and examined protein homology, localization, and structure...
  84. ncbi Molecular cloning of a brain-specific, developmentally regulated neuregulin 1 (NRG1) isoform and identification of a functional promoter variant associated with schizophrenia
    Wei Tan
    SAIC Frederick, NCI, National Institutes of Health, Frederick, Maryland 21702, USA
    J Biol Chem 282:24343-51. 2007
    ....
  85. ncbi Structural analogues of smoothened intracellular loops as potent inhibitors of Hedgehog pathway and cancer cell growth
    Jarrett R Remsberg
    Molecular Aspects of Drug Design Section, Structural Biophysics Laboratory, National Cancer Institute Frederick, Frederick, Maryland 21702, USA
    J Med Chem 50:4534-8. 2007
    ..Palmitoylated peptides as short as 10 residues inhibited melanoma cells growth with IC50 in the low nanomolar range. The compounds are promising drug candidates and convenient tools for solving mechanisms of Hedgehog signaling...
  86. ncbi ATM mutations and protein expression are not associated with familial B-CLL cases
    Naoko Ishibe
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 6120 Executive Blvd, MSC 7236, Bethesda, MD 20892, USA
    Leuk Res 27:973-5. 2003
  87. ncbi Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia
    Susanne Heimerl
    Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Germany
    Hum Mutat 20:151. 2002
    ..In addition, we identified for the first time a mutation in the ABCG5 gene of a European Sitosterolemia patient...
  88. ncbi Natural animal models of human genetic diseases
    Jeffrey J Wine
    Cystic Fibrosis Research Laboratory, Stanford University, Stanford, CA, USA
    Methods Mol Med 70:31-46. 2002
  89. ncbi Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings
    Paul S Bernstein
    Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA
    Invest Ophthalmol Vis Sci 43:466-73. 2002
    ..This genetically related population provides a cohort of subjects with similar age and ethnic background for genotype-phenotype comparison to the original probands...
  90. ncbi The multidrug resistance transporter ABCG2 (breast cancer resistance protein 1) effluxes Hoechst 33342 and is overexpressed in hematopoietic stem cells
    Min Kim
    Eppley Institute for Cancer Research, University of Nebraska Medical Center, Omaha, Nebraska 68198, USA
    Clin Cancer Res 8:22-8. 2002
    ..These results suggest that Hoechst 33342 is a substrate for the ABCG2 transporter and that ABCG2/Bcrp1 expression may serve as a marker for hematopoietic stem cells in hematopoietic cells...
  91. ncbi Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications
    Gregory S Hageman
    Department of Ophthalmology and Visual Sciences, Cell Biology and Functional Genomics Laboratory, The University of Iowa, 11190E PFP, 200 Hawkins Drive, Iowa City, Iowa 52240, USA
    Ann Med 38:592-604. 2006
    ..Aims and Methods. In this study, the structural and evolutionary relationships between these genes and AMD was refined using a combined genetic, molecular and immunohistochemical approach...
  92. ncbi HCV infection clearance with functional or non-functional caspase-12
    Kritika Kachapati
    Scand J Gastroenterol 42:416-7. 2007
  93. ncbi Common germline MDR1/ABCB1 functional polymorphisms and haplotypes modify susceptibility to colorectal cancers with high microsatellite instability
    Uros Potocnik
    Center for Human Molecular Genetics and Pharmacogenomics, Medical Faculty, University of Maribor, Slomskov trg 15, 2000 Maribor, Slovenia
    Cancer Genet Cytogenet 183:28-34. 2008
    ..The present study provides additional evidence for the role that the MDR1/ABCB1 gene plays in the initiation and progression of MSI-H CRC development...
  94. ncbi The B30.2(SPRY) domain of the retroviral restriction factor TRIM5alpha exhibits lineage-specific length and sequence variation in primates
    Byeongwoon Song
    Dana Farber Cancer Institute, 44 Binney Street, JFB 824, Boston, MA 02115, USA
    J Virol 79:6111-21. 2005
    ..The results are consistent with a role for TRIM5alpha in innate immunity against retroviruses...
  95. ncbi Effects of human TRIM5alpha polymorphisms on antiretroviral function and susceptibility to human immunodeficiency virus infection
    Hassan Javanbakht
    Department of Cancer Immunology and AIDS, Dana Farber Cancer Institute, Division of AIDS, Harvard Medical School, Boston, MA 02115, USA
    Virology 354:15-27. 2006
    ..05 for both SNPs and haplotypes. Thus, polymorphism in human TRIM5 may influence susceptibility to HIV-1 infection, a possibility that merits additional evaluation in independent cohorts...
  96. ncbi A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration
    Gregory S Hageman
    Department of Ophthalmology and Visual Sciences, Cell Biology and Functional Genomics Laboratory, University of Iowa, Iowa City, IA 52240, USA
    Proc Natl Acad Sci U S A 102:7227-32. 2005
    ..We propose that genetic variation in a regulator of the alternative complement pathway, when combined with a triggering event, such as infection, underlie a major proportion of AMD in the human population...
  97. ncbi ABCA3 mutations associated with pediatric interstitial lung disease
    Janine E Bullard
    Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Am J Respir Crit Care Med 172:1026-31. 2005
    ..Mutations in the gene encoding ABCA3 were recently identified in full-term neonates with fatal surfactant deficiency...
  98. ncbi HIV-1 infection in individuals with the CCR5-Delta32/Delta32 genotype: acquisition of syncytium-inducing virus at seroconversion
    Haynes W Sheppard
    Viral and Rickettsial Disease Laboratory, California Department of Health Services, Richmond, California 94804, USA
    J Acquir Immune Defic Syndr 29:307-13. 2002
    ..The pathogenic potential of these viruses may be different from late-stage X4 virus or early X4 virus acquired by individuals with other CCR5 genotypes...
  99. ncbi Risk for HIV-1 infection associated with a common CXCL12 (SDF1) polymorphism and CXCR4 variation in an African population
    Desiree C Petersen
    Department of Medical Virology, University of Stellenbosch, Tygerberg Medical School, South Africa
    J Acquir Immune Defic Syndr 40:521-6. 2005
    ..Comprehensive mutation analysis of the CXCR4 gene confirmed a high degree of genetic conservation within the coding region of this ancient population...
  100. ncbi Evolution of a cytoplasmic tripartite motif (TRIM) protein in cows that restricts retroviral infection
    Zhihai Si
    Department of Cancer Immunology and AIDS, Dana Farber Cancer Institute, Division of AIDS, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 103:7454-9. 2006
    ..Particular features of this subset of cytoplasmic TRIM proteins may be conducive to the convergent evolution of virus-restricting factors...
  101. ncbi Surfactant composition and function in patients with ABCA3 mutations
    Tami H Garmany
    Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, St Louis, Missouri, 63110, USA
    Pediatr Res 59:801-5. 2006
    ..We conclude that mutations in ABCA3 are associated with surfactant that is deficient in phosphatidylcholine and has decreased function, suggesting that ABCA3 plays an important role in pulmonary surfactant phospholipid homeostasis...