L D Siracusa

Summary

Affiliation: Thomas Jefferson University
Country: USA

Publications

  1. ncbi request reprint A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation
    L D Siracusa
    Department of Microbiology and Immunology, Jefferson Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania 19107 5541, USA
    Genome Res 6:300-13. 1996
  2. ncbi request reprint Expression pattern and mapping of the murine versican gene (Cspg2) to chromosome 13
    M F Naso
    Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Genomics 29:297-300. 1995
  3. ncbi request reprint The tight skin (Tsk) mutation in the mouse, a model for human fibrotic diseases, is tightly linked to the beta 2-microglobulin (B2m) gene on chromosome 2
    L D Siracusa
    Department of Microbiology and Immunology, Jefferson Cancer Institute, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107 5541
    Genomics 17:748-51. 1993
  4. ncbi request reprint Of mice and Marfan: genetic linkage analyses of the fibrillin genes, Fbn1 and Fbn2, in the mouse genome
    C Goldstein
    Department of Microbiology and Immunology, Jefferson Cancer Institute, Philadelphia, Pennsylvania 19107
    Mamm Genome 5:696-700. 1994
  5. pmc Molecular basis of the pleiotropic phenotype of mice carrying the hypervariable yellow (Ahvy) mutation at the agouti locus
    A C Argeson
    Department of Microbiology and Immunology, Jefferson Medical College, Philadelphia, Pennsylvania 19107 5541, USA
    Genetics 142:557-67. 1996
  6. ncbi request reprint Complete cDNA cloning, genomic organization, chromosomal assignment, functional characterization of the promoter, and expression of the murine Bamacan gene
    G Ghiselli
    Department of Pathology, Anatomy, and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Biol Chem 274:17384-93. 1999
  7. pmc Molecular cloning of Ian4: a BCR/ABL-induced gene that encodes an outer membrane mitochondrial protein with GTP-binding activity
    L Daheron
    Thomas Jefferson University, Department of Microbiology and Immunology, Kimmel Cancer Institute, Philadelphia, PA 19107, USA
    Nucleic Acids Res 29:1308-16. 2001
  8. ncbi request reprint Decorin, epiphycan, and lumican genes are closely linked on murine Chromosome 10 and are deleted in lethal steel mutants
    K G Danielson
    Department of Pathology, Anatomy and Cell Biology, Room 249 Jefferson Alumni Hall, Jefferson Medical College, Thomas Jefferson University, 1020 Locust Street, Philadelphia, Pennsylvania 19107, USA
    Mamm Genome 10:201-3. 1999
  9. ncbi request reprint Influence of a nonfragile FHIT transgene on murine tumor susceptibility
    K A McCorkell
    Department of Microbiology and Immunology, Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA, USA
    Cytogenet Genome Res 118:196-203. 2007
  10. ncbi request reprint The tight skin 2 mouse. An animal model of scleroderma displaying cutaneous fibrosis and mononuclear cell infiltration
    P J Christner
    Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA, USA
    Arthritis Rheum 38:1791-8. 1995

Collaborators

Detail Information

Publications42

  1. ncbi request reprint A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation
    L D Siracusa
    Department of Microbiology and Immunology, Jefferson Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania 19107 5541, USA
    Genome Res 6:300-13. 1996
    ..These findings provide hypotheses to explain some of the phenotypic characteristics of Tskl + mice and the lethality of Tsk/Tsk embryos...
  2. ncbi request reprint Expression pattern and mapping of the murine versican gene (Cspg2) to chromosome 13
    M F Naso
    Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Genomics 29:297-300. 1995
    ..Using interspecific backcross analysis, we assigned the versican gene (Cspg2) to mouse chromosome 13, in a region that is syntenic with the long arm of human chromosome 5 where the human CSPG2 gene is located...
  3. ncbi request reprint The tight skin (Tsk) mutation in the mouse, a model for human fibrotic diseases, is tightly linked to the beta 2-microglobulin (B2m) gene on chromosome 2
    L D Siracusa
    Department of Microbiology and Immunology, Jefferson Cancer Institute, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107 5541
    Genomics 17:748-51. 1993
    ..Our results refine the location of Tsk to a 3-cM region, eliminate several genes from consideration as the Tsk mutation, identify molecular probes tightly linked with Tsk, and suggest candidate genes responsible for the Tsk phenotype...
  4. ncbi request reprint Of mice and Marfan: genetic linkage analyses of the fibrillin genes, Fbn1 and Fbn2, in the mouse genome
    C Goldstein
    Department of Microbiology and Immunology, Jefferson Cancer Institute, Philadelphia, Pennsylvania 19107
    Mamm Genome 5:696-700. 1994
    ..The results position Fbn2 between the D18Mit35 and Pdgfrb loci in the central region of mouse Chr 18. Fbn2 maps near three mutations [bouncy (bc), plucked (pk), and shaker with syndactyly (sy)] and may be a candidate for the pk mutation...
  5. pmc Molecular basis of the pleiotropic phenotype of mice carrying the hypervariable yellow (Ahvy) mutation at the agouti locus
    A C Argeson
    Department of Microbiology and Immunology, Jefferson Medical College, Philadelphia, Pennsylvania 19107 5541, USA
    Genetics 142:557-67. 1996
    ..In addition, the data suggest that the variable phenotype of Ahvy offspring is influenced in part by the phenotype of their Ahvy female parent...
  6. ncbi request reprint Complete cDNA cloning, genomic organization, chromosomal assignment, functional characterization of the promoter, and expression of the murine Bamacan gene
    G Ghiselli
    Department of Pathology, Anatomy, and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Biol Chem 274:17384-93. 1999
    ..These results suggest that bamacan is involved in the control of cell growth and transformation...
  7. pmc Molecular cloning of Ian4: a BCR/ABL-induced gene that encodes an outer membrane mitochondrial protein with GTP-binding activity
    L Daheron
    Thomas Jefferson University, Department of Microbiology and Immunology, Kimmel Cancer Institute, Philadelphia, PA 19107, USA
    Nucleic Acids Res 29:1308-16. 2001
    ..The IAN-4 protein has GTP-binding activity and shares sequence homology with a novel family of putative GTP-binding proteins: the immuno-associated nucleotide (IAN) family...
  8. ncbi request reprint Decorin, epiphycan, and lumican genes are closely linked on murine Chromosome 10 and are deleted in lethal steel mutants
    K G Danielson
    Department of Pathology, Anatomy and Cell Biology, Room 249 Jefferson Alumni Hall, Jefferson Medical College, Thomas Jefferson University, 1020 Locust Street, Philadelphia, Pennsylvania 19107, USA
    Mamm Genome 10:201-3. 1999
  9. ncbi request reprint Influence of a nonfragile FHIT transgene on murine tumor susceptibility
    K A McCorkell
    Department of Microbiology and Immunology, Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA, USA
    Cytogenet Genome Res 118:196-203. 2007
    ..It is likely that the FHIT transgene is more tightly silenced in female transgenic mice, leading to a lack of protection from tumor induction...
  10. ncbi request reprint The tight skin 2 mouse. An animal model of scleroderma displaying cutaneous fibrosis and mononuclear cell infiltration
    P J Christner
    Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA, USA
    Arthritis Rheum 38:1791-8. 1995
    ..To describe the histopathologic and biochemical characteristics of skin from the Tsk2/+ mouse, a mutation with phenotypic features resembling those of systemic sclerosis (SSc), and to report the initial genetic mapping of the Tsk2 locus...
  11. ncbi request reprint A high-resolution linkage map of the tight skin 2 (Tsk2) locus: a mouse model for scleroderma (SSc) and other cutaneous fibrotic diseases
    P J Christner
    Department of Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Mamm Genome 7:610-2. 1996
  12. ncbi request reprint Genomic organization, promoter analysis, and chromosomal mapping of the mouse gene encoding Cdk9
    L Bagella
    Departments of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Cell Biochem 78:170-8. 2000
    ..This study provides the molecular basis for understanding the transcriptional control of the Cdk9 gene, and could serve to facilitate the molecular genetic investigation of Cdk9 function during mouse embryonal development...
  13. ncbi request reprint The secretory phospholipase A2 gene is a candidate for the Mom1 locus, a major modifier of ApcMin-induced intestinal neoplasia
    M MacPhee
    Department of Microbiology and Immunology, Jefferson Cancer Center, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA
    Cell 81:957-66. 1995
    ..Our results indicate that Pla2s acts as a novel gene that modifies polyp number by altering the cellular microenvironment within the intestinal crypt...
  14. pmc Muir-Torre-like syndrome in Fhit-deficient mice
    L Y Fong
    Department of Microbiology and Immunology, Christiana Care Health Systems, Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Proc Natl Acad Sci U S A 97:4742-7. 2000
    ..The visceral and sebaceous tumors, which lacked Fhit protein, were similar to those characteristic of Muir-Torre familial cancer syndrome...
  15. ncbi request reprint The murine decorin. Complete cDNA cloning, genomic organization, chromosomal assignment, and expression during organogenesis and tissue differentiation
    T Scholzen
    Department of Pathology and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107
    J Biol Chem 269:28270-81. 1994
    ..In contrast, the major parenchymal organs were only weakly positive for decorin mRNA. These findings suggest that decorin may play a role in epithelial/mesenchymal interactions during organ development and shaping...
  16. ncbi request reprint The pituitary hormones arginine vasopressin-neurophysin II and oxytocin-neurophysin I show close linkage with interleukin-1 on mouse chromosome 2
    J C Marini
    Jefferson Cancer Institute, Department of Microbiology and Immunology, Philadelphia, Pennsylvania 19107 5541
    Genomics 15:200-2. 1993
    ..This map position confirms and extends the known region of linkage conservation between mouse chromosome 2 and human chromosome 20...
  17. ncbi request reprint The mouse tight skin (Tsk) phenotype is not dependent on the presence of mature T and B lymphocytes
    L D Siracusa
    Department of Microbiology and Immunology, Kimmel Cancer Center, Jefferson Medical College, Thomas Jefferson University, 233 South 10th Street, Philadelphia, Pennsylvania 19107 5541, USA
    Mamm Genome 9:907-9. 1998
  18. ncbi request reprint The murine Fhit locus: isolation, characterization, and expression in normal and tumor cells
    Y Pekarsky
    Kimmel Cancer Institute, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA
    Cancer Res 58:3401-8. 1998
    ..Several tumorigenic mouse cell lines exhibited homozygous deletions of Fhit exons. We conclude that the murine Fhit gene, like its human counterpart, is a target of alterations involved in murine carcinogenesis...
  19. ncbi request reprint The agouti gene: turned on to yellow
    L D Siracusa
    Jefferson Cancer Institute, Thomas Jefferson University, Department of Microbiology and Immunology, Philadelphia, PA 19107
    Trends Genet 10:423-8. 1994
    ....
  20. ncbi request reprint Genomic organization and molecular genetics of the agouti locus in the mouse
    L D Siracusa
    Department of Microbiology and Immunology, Jefferson Cancer Institute, Philadelphia, Pennsylvania 19107
    Ann N Y Acad Sci 642:419-30. 1991
    ....
  21. pmc Mechanisms for the pleiotropic effects of the agouti gene
    J Manne
    Jefferson Cancer Institute, Thomas Jefferson University, Department of Microbiology and Immunology, Philadelphia, PA 19107, USA
    Proc Natl Acad Sci U S A 92:4721-4. 1995
  22. ncbi request reprint Characterization of a novel receptor that maps near the natural killer gene complex: demonstration of carbohydrate binding and expression in hematopoietic cells
    M J Fernandes
    Thomas Jefferson University, Department of Microbiology and Immunology, Kimmel Cancer Institute, Philadelphia, Pennsylvania 19107, USA
    Cancer Res 59:2709-17. 1999
    ..Moreover, its expression is not restricted to natural killer cells, as reported for the majority of group V lectins. Nkcl is expressed in pluripotent myeloid precursors, precursor and mature macrophages, and neutrophils...
  23. ncbi request reprint Phospholipase C gamma-2 (Plcg2) and phospholipase C gamma-1 (Plcg1) map to distinct regions in the human and mouse genomes
    A C Argeson
    Jefferson Cancer Institute, Thomas Jefferson University, Department of Microbiology and Immunology, Philadelphia, Pennsylvania 19107 5541, USA
    Genomics 25:29-35. 1995
    ..Plcg2 does not map near its most closely related family member, Plcg1, in either genome, indicating that the mammalian Plcg genes belong to a dispersed family...
  24. ncbi request reprint Identification of a sequence-specific single-stranded DNA binding protein that suppresses transcription of the mouse myelin basic protein gene
    S Haas
    Jefferson Institute of Molecular Medicine, Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Biol Chem 270:12503-10. 1995
    ..The myef-2 gene maps to mouse chromosome 2. The relevance of these findings for regulation of MBP gene expression and oligodendrocyte differentiation is discussed...
  25. ncbi request reprint Hypervariable yellow (Ahvy), a new murine agouti mutation: Ahvy displays the largest variation in coat color phenotypes of all known agouti alleles
    L D Siracusa
    Department of Microbiology and Immunology, Jefferson Cancer Institute, Philadelphia, PA 19107, USA
    J Hered 86:121-8. 1995
    ..The Ahvy mutation is responsible for the largest range of coat color phenotypes yet identified for any single agouti mutation...
  26. ncbi request reprint Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration
    O Reiner
    Department of Molecular Genetics and Virology, Weizmann Institute of Science, Rehovot, Israel
    J Neurosci 15:3730-8. 1995
    ..The direct correlation between cortical defects in MDS patients and Lis1 expression in the murine cortex suggest that the mouse is a model system suitable to study the mechanistic basis of this intriguing genetic disease...
  27. ncbi request reprint Skeletal dysplasia and male infertility locus on mouse chromosome 9
    K B Cha
    Department of Human Genetics, University of Michigan Medical School, 1500 W Medical Center Drive, 4301 MSRB 3, Ann Arbor, MI 48019 0638, USA
    Genomics 83:951-60. 2004
    ..This location is consistent with chagun defining a novel locus. Identification of the mutant gene will uncover the basis for another type of skeletal dysplasia and male infertility...
  28. ncbi request reprint Localization of phospholipase C-gamma 1 to mouse chromosome 2
    K K Nelson
    Jefferson Cancer Institute, Department of Microbiology and Immunology, Philadelphia, Pennsylvania 19107
    Mamm Genome 3:597-600. 1992
  29. pmc Interspecific backcross mice show sex-specific differences in allelic inheritance
    L D Siracusa
    Mammalian Genetics Laboratory, NCI Frederick Cancer Research and Development Center, Maryland 21702
    Genetics 128:813-21. 1991
    ..These studies provide evidence for sex-specific differences in allelic inheritance for chromosome 2 and suggest biological explanations for this form of transmission distortion...
  30. ncbi request reprint A molecular genetic linkage map of mouse chromosome 2
    L D Siracusa
    Mammalian Genetics Laboratory, NCI Frederick Cancer Research Facility, Maryland 21701
    Genomics 6:491-504. 1990
    ..Comparisons between the mouse and the human genomes indicate that mouse chromosome 2 contains regions homologous to at least six human chromosomes. Mouse models for human diseases are discussed...
  31. pmc Recombinant inbred strain and interspecific backcross analysis of molecular markers flanking the murine agouti coat color locus
    L D Siracusa
    Mammalian Genetics Laboratory, NCI Frederick Cancer Research Facility, Maryland 21701
    Genetics 122:669-79. 1989
    ..The Psp-2 locus maps to mouse chromosome 14. The Hck-2 locus maps near the centromere of mouse chromosome 4 and may identify the Lyn locus. The Hck-3 locus maps near the distal end of mouse chromosome 4 and may identify the Lck locus...
  32. ncbi request reprint A molecular genetic linkage map of mouse chromosome 4 including the localization of several proto-oncogenes
    J D Ceci
    Mammalian Genetics Laboratory, BRI Basic Research Program, NCI Frederick Cancer Research Facility, Maryland 21701
    Genomics 5:699-709. 1989
    ..This linkage map will provide a framework for identifying homologous genes in mice and humans that may be involved in various disease processes...
  33. pmc Allelic variation within the Emv-15 locus defines genomic sequences closely linked to the agouti locus on mouse chromosome 2
    L D Siracusa
    Mammalian Genetics Laboratory, NCI Frederick Cancer Research Facility, Maryland 21701
    Genetics 117:85-92. 1987
    ..However, we found some exceptions which suggest that the Emv-15 locus is closely linked to, but genetically separable from, the agouti locus...
  34. pmc Genetic organization of the agouti region of the mouse
    L D Siracusa
    Mammalian Genetics Laboratory, NCI Frederick Cancer Research Facility, Maryland 21701
    Genetics 117:93-100. 1987
    ..These experiments provide a conceptual framework for initiating chromosome walking experiments designed to retrieve sequences from the agouti locus and give new insight into the genetic organization of the agouti region...
  35. ncbi request reprint A homozygous deletion within the carbonic anhydrase-like domain of the Ptprg gene in murine L-cells
    K K Wary
    Jefferson Cancer Institute, Thomas Jefferson Medical College, Philadelphia, Pennsylvania 19107
    Cancer Res 53:1498-502. 1993
    ..Thus, mouse L-cells have lost one Ptprg allele and sustained an intragenic deletion in the other; such allele loss and mutation frequently occur at tumor suppressor gene loci...
  36. ncbi request reprint Human homologue of a candidate for the Mom1 locus, the secretory type II phospholipase A2 (PLA2S-II), maps to 1p35-36.1/D1S199
    C Praml
    Department of Cytogenetics 0130, German Cancer Research Center, Heidelberg, Germany
    Cancer Res 55:5504-6. 1995
    ....
  37. pmc Molecular genetic characterization of six recessive viable alleles of the mouse agouti locus
    C M Hustad
    Mammalian Genetics Laboratory, NCI Frederick Cancer Research and Development Center, Maryland 21702, USA
    Genetics 140:255-65. 1995
    ..Cloning the breakpoints of this putative inversion should allow us to identify the gene that confers this interesting immunological disorder...
  38. ncbi request reprint A high-resolution linkage map of the lethal spotting locus: a mouse model for Hirschsprung disease
    W J Pavan
    Laboratory for Genetic Disease Research, National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland 20892
    Mamm Genome 6:1-7. 1995
    ..Only Edn3 and Gnas did not recombine with the ls mutation. Mutational analysis of the Edn3 and Gnas genes will determine whether either gene is responsible for the neural crest deficiencies observed in ls/ls mice...
  39. ncbi request reprint Physical and genetic localization of the gene encoding the AP-2 transcription factor to mouse chromosome 13
    G Warren
    Department of Genetics, Yale University, New Haven, Connecticut 06511, USA
    Genomics 31:234-7. 1996
    ..We have also extended this analysis by placing Tcfap2 on the mouse genetic map, and we discuss the candidate mouse mutations that map in the vicinity of this transcription factor...
  40. ncbi request reprint Genomic structure and chromosomal mapping of the mouse VE-cadherin gene (Cdh5)
    P Huber
    CEA, INSERM unité 217, Département de Biolgie Moléculaire et Structurale, Grenoble, France
    Genomics 32:21-8. 1996
    ....
  41. pmc Analysis of the murine All-1 gene reveals conserved domains with human ALL-1 and identifies a motif shared with DNA methyltransferases
    Q Ma
    Jefferson Cancer Institute, Jefferson Medical College, Philadelphia, PA 19107 5541
    Proc Natl Acad Sci U S A 90:6350-4. 1993
    ..Finally, we report that All-1 resides in the proximal portion of mouse chromosome 9 and is a candidate for a mutation that results in skeletal transformations during embryonic development...
  42. pmc The Tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils
    C M Kielty
    School of Biological Sciences, University of Manchester, Manchester, M13 9PT, United Kingdom
    J Cell Biol 140:1159-66. 1998
    ..These data indicate that Tsk fibrillin-1 polymerizes and becomes incorporated into a discrete population of beaded microfibrils with altered molecular organization...