S Das

Summary

Affiliation: University of Chicago
Country: USA

Publications

  1. doi request reprint Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory
    S Das
    Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA
    Genet Med 10:332-6. 2008
  2. pmc Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities
    S Das
    Department of Human Genetics, The University of Chicago, Chicago, IL, 60637, USA
    Am J Hum Genet 67:1586-91. 2000
  3. ncbi request reprint Phenotype-genotype correlation of in vitro SN-38 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissue with UGT1A1 promoter polymorphism
    L Iyer
    Department of Human Genetics, Cancer Research Center, University of Chicago, IL 60637, USA
    Clin Pharmacol Ther 65:576-82. 1999
  4. ncbi request reprint Hepatocyte nuclear factor-1 alpha is associated with UGT1A1, UGT1A9 and UGT2B7 mRNA expression in human liver
    J Ramirez
    Department of Medicine, University of Chicago, Chicago, IL 60637, USA
    Pharmacogenomics J 8:152-61. 2008
  5. ncbi request reprint Phase I clinical and pharmacogenetic study of weekly TAS-103 in patients with advanced cancer
    R B Ewesuedo
    Committee on Clinical Pharmacology, Section of Pediatric Hematology-Oncology, Department of Pediatrics, University of Chicago, IL 60637, USA
    J Clin Oncol 19:2084-90. 2001
  6. doi request reprint The 1200 patients project: creating a new medical model system for clinical implementation of pharmacogenomics
    P H O'Donnell
    Department of Medicine, The University of Chicago, Chicago, Illinois, USA
    Clin Pharmacol Ther 92:446-9. 2012
  7. pmc Prediction of CYP3A4 enzyme activity using haplotype tag SNPs in African Americans
    M A Perera
    Committee on Clinical Pharmacology and Pharmacogenomics, Division of Biological Sciences, University of Chicago, Chicago, IL, USA
    Pharmacogenomics J 9:49-60. 2009
  8. doi request reprint Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13
    D K Nolan
    Committee on Genetics, University of Chicago, Chicago, Illinois 60637, USA
    Am J Med Genet A 146:1414-22. 2008
  9. ncbi request reprint UGT1A1*28 polymorphism as a determinant of irinotecan disposition and toxicity
    L Iyer
    Department of Medicine, The University of Chicago, IL, USA
    Pharmacogenomics J 2:43-7. 2002
  10. ncbi request reprint Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia
    N Matsumoto
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Eur J Hum Genet 9:5-12. 2001

Collaborators

Detail Information

Publications17

  1. doi request reprint Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory
    S Das
    Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA
    Genet Med 10:332-6. 2008
    ....
  2. pmc Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities
    S Das
    Department of Human Genetics, The University of Chicago, Chicago, IL, 60637, USA
    Am J Hum Genet 67:1586-91. 2000
    ..This finding has clinical implications, since somatic mosaicism for uniparental disomy of chromosome 6 should also be considered in patients with transient neonatal diabetes mellitus...
  3. ncbi request reprint Phenotype-genotype correlation of in vitro SN-38 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissue with UGT1A1 promoter polymorphism
    L Iyer
    Department of Human Genetics, Cancer Research Center, University of Chicago, IL 60637, USA
    Clin Pharmacol Ther 65:576-82. 1999
    ..The presence of an additional TA repeat [(TA)7TAA] in the TATA sequence of UGT1A1 has been associated with Gilbert's syndrome...
  4. ncbi request reprint Hepatocyte nuclear factor-1 alpha is associated with UGT1A1, UGT1A9 and UGT2B7 mRNA expression in human liver
    J Ramirez
    Department of Medicine, University of Chicago, Chicago, IL 60637, USA
    Pharmacogenomics J 8:152-61. 2008
    ..However, the amount of UGT intergenotype variability explained by HNF1alpha expression appears to be modest, and further studies should investigate the role of multiple transcription factors...
  5. ncbi request reprint Phase I clinical and pharmacogenetic study of weekly TAS-103 in patients with advanced cancer
    R B Ewesuedo
    Committee on Clinical Pharmacology, Section of Pediatric Hematology-Oncology, Department of Pediatrics, University of Chicago, IL 60637, USA
    J Clin Oncol 19:2084-90. 2001
    ..Further studies to characterize the pharmacodynamics and pharmacogenetics of TAS-103 are warranted...
  6. doi request reprint The 1200 patients project: creating a new medical model system for clinical implementation of pharmacogenomics
    P H O'Donnell
    Department of Medicine, The University of Chicago, Chicago, Illinois, USA
    Clin Pharmacol Ther 92:446-9. 2012
    ..We describe our institutional pharmacogenomics-implementation project, "The 1200 Patients Project," a model designed to overcome these barriers and facilitate the availability of pharmacogenomic information for personalized prescribing...
  7. pmc Prediction of CYP3A4 enzyme activity using haplotype tag SNPs in African Americans
    M A Perera
    Committee on Clinical Pharmacology and Pharmacogenomics, Division of Biological Sciences, University of Chicago, Chicago, IL, USA
    Pharmacogenomics J 9:49-60. 2009
    ..This study marks the first systematic evaluation of coding and noncoding variation that may contribute to CYP3A phenotypic variability...
  8. doi request reprint Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13
    D K Nolan
    Committee on Genetics, University of Chicago, Chicago, Illinois 60637, USA
    Am J Med Genet A 146:1414-22. 2008
    ..However, no mutations in the coding region of this gene are present in the family we describe. These results suggest that another gene causing autosomal recessive nonsyndromic MR (ARNSMR) is located within this genomic region...
  9. ncbi request reprint UGT1A1*28 polymorphism as a determinant of irinotecan disposition and toxicity
    L Iyer
    Department of Medicine, The University of Chicago, IL, USA
    Pharmacogenomics J 2:43-7. 2002
    ..The results suggest that screening for UGT1A1*28 polymorphism may identify patients with lower SN-38 glucuronidation rates and greater susceptibility to irinotecan induced gastrointestinal and bone marrow toxicity...
  10. ncbi request reprint Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia
    N Matsumoto
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Eur J Hum Genet 9:5-12. 2001
    ..Maternal germline mosaicism was found in one family. Significant differences in genotype were found in relation to band thickness and familial vs sporadic status...
  11. ncbi request reprint Mosaic mutations of the LIS1 gene cause subcortical band heterotopia
    F Sicca
    Division of Child Neurology and Psychiatry, University of Pisa, Italy
    Neurology 61:1042-6. 2003
    ..The authors identified mosaic mutations of LIS1 in two patients (Patients 1 and 2) with predominantly posterior SBH...
  12. ncbi request reprint Molecular differences between RER+ and RER- sporadic endometrial carcinomas in a large population-based series
    N D MacDonald
    The Gynaecological Oncology Unit, St Bartholomew s and The London Hospitals, Queen Mary School of Medicine and Dentistry, Charterhouse Square, London, UK
    Int J Gynecol Cancer 14:957-65. 2004
    ....
  13. ncbi request reprint Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus
    R Guerrini
    Department of Pediatric Neurosciences, Pediatric Hospital A Meyer and University of Florence, Firenze, Italy
    Neurology 69:427-33. 2007
    ....
  14. ncbi request reprint A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome
    B Levinson
    Howard Hughes Medical Institute, University of California, San Francisco 94143, USA
    Hum Mol Genet 5:1737-42. 1996
    ..Other experiments revealed no effect on the site of transcription initiation, termination or on splicing...
  15. pmc Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti
    S Das
    Am J Hum Genet 54:922-5. 1994
  16. pmc Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse
    S Das
    Department of Pediatrics, University of California, San Francisco 94143 0724
    Am J Hum Genet 56:570-6. 1995
    ..These findings contrast with the more debilitating mutations observed in Menkes disease and suggest that low amounts of an otherwise normal protein product could result in the relatively mild phenotype of OHS and of the blotchy mouse...
  17. ncbi request reprint Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus
    Y Pan
    Howard Hughes Medical Institute, University of California, San Francisco 94143
    Nat Genet 2:103-6. 1992
    ..Other mutations include three missense mutations, a frameshift and one small in-frame deletion. These results represent one of the first examples of recessive mutations affecting a G protein-coupled receptor...