S L Dabora

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
    S L Dabora
    Genetics Laboratory, Division of Hematology, Brigham and Women s Hospital, Boston, MA, 02115, USA
    Am J Hum Genet 68:64-80. 2001
  2. ncbi Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients
    Sandra L Dabora
    Division of Hematology, Brigham and Women Hospital, Boston, MA 02115, USA
    Am J Hum Genet 71:750-8. 2002
  3. ncbi Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2
    Y S Choy
    Division of Hematology, Brigham and Women Hospital, Boston, Massachussetts 02115, USA
    Ann Hum Genet 63:383-91. 1999
  4. ncbi Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE
    S L Dabora
    Division of Hematology, Brigham and Women s Hospital, Boston, MA 02115, USA
    Ann Hum Genet 62:491-504. 1998
  5. ncbi Tuberous sclerosis preclinical studies: timing of treatment, combination of a rapamycin analog (CCI-779) and interferon-gamma, and comparison of rapamycin to CCI-779
    Michael P Messina
    Translational Medicine Division, Department of Medicine, Brigham and Women s Hospital, Karp Family Research Laboratories, Boston, MA, USA
    BMC Pharmacol 7:14. 2007
  6. ncbi Combination of a rapamycin analog (CCI-779) and interferon-gamma is more effective than single agents in treating a mouse model of tuberous sclerosis complex
    Laifong Lee
    Hematology Division, Department of Medicine, Brigham and Women's Hospital, Karp Family Research Laboratories, Boston, MA 02115, USA
    Genes Chromosomes Cancer 45:933-44. 2006
  7. ncbi Efficacy of a rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models
    Laifong Lee
    Division of Hematology, Brigham and Women s Hospital, Boston, MA 02115, USA
    Genes Chromosomes Cancer 42:213-27. 2005
  8. ncbi SNP identification, haplotype analysis, and parental origin of mutations in TSC2
    Penelope S Roberts
    Hematology Division, Brigham and Women's Hospital, Harvard Medical School, 221 Longwood Ave, Boston, MA 02115, USA
    Hum Genet 111:96-101. 2002
  9. ncbi PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR
    Hongbing Zhang
    Department of Physiology, National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People s Republic of China
    J Clin Invest 117:730-8. 2007
  10. ncbi Topical rapamycin inhibits tuberous sclerosis tumor growth in a nude mouse model
    Aubrey Rauktys
    Translational Medicine Division, Department of Medicine, Brigham and Women s Hospital, One Blackfan Circle, Karp Research Building, Boston, MA, 02115 USA
    BMC Dermatol 8:1. 2008

Collaborators

Detail Information

Publications10

  1. ncbi Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
    S L Dabora
    Genetics Laboratory, Division of Hematology, Brigham and Women s Hospital, Boston, MA, 02115, USA
    Am J Hum Genet 68:64-80. 2001
    ....
  2. ncbi Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients
    Sandra L Dabora
    Division of Hematology, Brigham and Women Hospital, Boston, MA 02115, USA
    Am J Hum Genet 71:750-8. 2002
    ..Although these results should be replicated in other populations with TSC, the present study suggests that modifier genes play a role in the variable expression of TSC and also suggests a potential therapy for KAMLs in patients with TSC...
  3. ncbi Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2
    Y S Choy
    Division of Hematology, Brigham and Women Hospital, Boston, Massachussetts 02115, USA
    Ann Hum Genet 63:383-91. 1999
    ..We conclude that DHPLC is superior to both CSGE and SSCP for detection of DNA sequence variation in TSC2, particularly for single base substitution mutations...
  4. ncbi Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE
    S L Dabora
    Division of Hematology, Brigham and Women s Hospital, Boston, MA 02115, USA
    Ann Hum Genet 62:491-504. 1998
    ..During this study, we identified 2 new mutations (exon 8 and exon 15), a new polymorphism (intron 4), and the first variant identified in a non-coding exon (exon 2)...
  5. ncbi Tuberous sclerosis preclinical studies: timing of treatment, combination of a rapamycin analog (CCI-779) and interferon-gamma, and comparison of rapamycin to CCI-779
    Michael P Messina
    Translational Medicine Division, Department of Medicine, Brigham and Women s Hospital, Karp Family Research Laboratories, Boston, MA, USA
    BMC Pharmacol 7:14. 2007
    ..A high-expressing IFN-gamma allele has been associated with reduced disease severity in human TSC patients and it has been shown in mouse models that treatment with exogenous IFN-gamma reduces disease severity...
  6. ncbi Combination of a rapamycin analog (CCI-779) and interferon-gamma is more effective than single agents in treating a mouse model of tuberous sclerosis complex
    Laifong Lee
    Hematology Division, Department of Medicine, Brigham and Women's Hospital, Karp Family Research Laboratories, Boston, MA 02115, USA
    Genes Chromosomes Cancer 45:933-44. 2006
    ....
  7. ncbi Efficacy of a rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models
    Laifong Lee
    Division of Hematology, Brigham and Women s Hospital, Boston, MA 02115, USA
    Genes Chromosomes Cancer 42:213-27. 2005
    ..These results constitute definitive preclinical data that justify proceeding with clinical trials using these agents in selected patients with TSC and related disorders...
  8. ncbi SNP identification, haplotype analysis, and parental origin of mutations in TSC2
    Penelope S Roberts
    Hematology Division, Brigham and Women's Hospital, Harvard Medical School, 221 Longwood Ave, Boston, MA 02115, USA
    Hum Genet 111:96-101. 2002
    ..The observations have implications for genetic counseling in TSC...
  9. ncbi PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR
    Hongbing Zhang
    Department of Physiology, National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People s Republic of China
    J Clin Invest 117:730-8. 2007
    ..In conclusion, PDGFR is a major target of negative feedback regulation in cells with activated mTOR, which limits the growth potential of TSC tumors...
  10. ncbi Topical rapamycin inhibits tuberous sclerosis tumor growth in a nude mouse model
    Aubrey Rauktys
    Translational Medicine Division, Department of Medicine, Brigham and Women s Hospital, One Blackfan Circle, Karp Research Building, Boston, MA, 02115 USA
    BMC Dermatol 8:1. 2008
    ..Here we investigate topical rapamycin in a mouse model for TSC-related tumors...