Genomes and Genes
Affiliation: University of Chicago
- Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratoryS Das
Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA
Genet Med 10:332-6. 2008....
- Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalitiesS 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...
- Phenotype-genotype correlation of in vitro SN-38 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissue with UGT1A1 promoter polymorphismL 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...
- Hepatocyte nuclear factor-1 alpha is associated with UGT1A1, UGT1A9 and UGT2B7 mRNA expression in human liverJ 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...
- Phase I clinical and pharmacogenetic study of weekly TAS-103 in patients with advanced cancerR 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...
- The 1200 patients project: creating a new medical model system for clinical implementation of pharmacogenomicsP 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...
- Prediction of CYP3A4 enzyme activity using haplotype tag SNPs in African AmericansM 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...
- Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13D 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...
- UGT1A1*28 polymorphism as a determinant of irinotecan disposition and toxicityL 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...
- Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopiaN 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...
- Mosaic mutations of the LIS1 gene cause subcortical band heterotopiaF 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...
- Molecular differences between RER+ and RER- sporadic endometrial carcinomas in a large population-based seriesN 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....
- Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicusR Guerrini
Department of Pediatric Neurosciences, Pediatric Hospital A Meyer and University of Florence, Firenze, Italy
Neurology 69:427-33. 2007....
- A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndromeB 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...
- Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmentiS Das
Am J Hum Genet 54:922-5. 1994
- Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouseS 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...
- Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidusY 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...