A Chakravarti

Summary

Affiliation: Case Western Reserve University
Country: USA

Publications

  1. ncbi Population genetics--making sense out of sequence
    A Chakravarti
    Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Ohio 44106, USA
    Nat Genet 21:56-60. 1999
  2. ncbi Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient
    M Angrist
    Department of Genetics, Case Western Reserve University, Cleveland, Ohio, USA
    Nat Genet 14:341-4. 1996
  3. pmc A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
    S Bolk
    Department of Genetics, Case Western Reserve University School of Medicine, Cleveland OH 44106, USA
    Proc Natl Acad Sci U S A 97:268-73. 2000
  4. ncbi Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility
    M Angrist
    Department of Genetics, Case Western Reserve University, Cleveland, Ohio 44106 4955, USA
    Genomics 48:354-62. 1998
  5. ncbi Lack of association between a biallelic polymorphism in the adducin gene and blood pressure in whites and African Americans
    N J Schork
    Department of Epidemiology, Case Western Reserve University School of Medicine, Cleveland, Ohio 44109 1998, USA
    Am J Hypertens 13:693-8. 2000
  6. ncbi Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease
    M Angrist
    Department of Genetics, Case Western Reserve University, Cleveland, OH, USA
    Hum Mol Genet 4:821-30. 1995
  7. pmc Linkage disequilibrium analysis of biallelic DNA markers, human quantitative trait loci, and threshold-defined case and control subjects
    N J Schork
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44109, USA
    Am J Hum Genet 67:1208-18. 2000
  8. ncbi Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis
    M K Halushka
    Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Ohio 44106, USA
    Nat Genet 22:239-47. 1999
  9. pmc Sequence variation within the fragile X locus
    D J Mathews
    Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA
    Genome Res 11:1382-91. 2001
  10. ncbi Genomic structure of the gene for the SH2 and pleckstrin homology domain-containing protein GRB10 and evaluation of its role in Hirschsprung disease
    M Angrist
    Department of Genetics, Case Western Reserve University and University Hospitals of Cleveland, Ohio 44106 4955, USA
    Oncogene 17:3065-70. 1998

Collaborators

Detail Information

Publications30

  1. ncbi Population genetics--making sense out of sequence
    A Chakravarti
    Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Ohio 44106, USA
    Nat Genet 21:56-60. 1999
    ..These studies, besides rejuvenating population genetics and our interest in how genetic variation is created and maintained, will provide the intellectual basis for understanding the genetic basis for complex diseases and traits...
  2. ncbi Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient
    M Angrist
    Department of Genetics, Case Western Reserve University, Cleveland, Ohio, USA
    Nat Genet 14:341-4. 1996
    ..However, it may be that in rare instances, RET and GDNF mutations act in concert to produce an enteric phenotype...
  3. pmc A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
    S Bolk
    Department of Genetics, Case Western Reserve University School of Medicine, Cleveland OH 44106, USA
    Proc Natl Acad Sci U S A 97:268-73. 2000
    ..These observations imply that identification of new susceptibility factors in a complex disease may depend on classification of families by mutational type at known susceptibility genes...
  4. ncbi Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility
    M Angrist
    Department of Genetics, Case Western Reserve University, Cleveland, Ohio 44106 4955, USA
    Genomics 48:354-62. 1998
    ....
  5. ncbi Lack of association between a biallelic polymorphism in the adducin gene and blood pressure in whites and African Americans
    N J Schork
    Department of Epidemiology, Case Western Reserve University School of Medicine, Cleveland, Ohio 44109 1998, USA
    Am J Hypertens 13:693-8. 2000
    ..This does not suggest, however, that the alpha-adducin gene does not have a role in blood pressure regulation and hypertension susceptibility...
  6. ncbi Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease
    M Angrist
    Department of Genetics, Case Western Reserve University, Cleveland, OH, USA
    Hum Mol Genet 4:821-30. 1995
    ....
  7. pmc Linkage disequilibrium analysis of biallelic DNA markers, human quantitative trait loci, and threshold-defined case and control subjects
    N J Schork
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44109, USA
    Am J Hum Genet 67:1208-18. 2000
    ..Finally, we consider possible extensions of the proposed methods, as well as areas for further consideration and improvement...
  8. ncbi Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis
    M K Halushka
    Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Ohio 44106, USA
    Nat Genet 22:239-47. 1999
    ..Overall, the degree of nucleotide polymorphism across these human genes, and orthologous great ape sequences, is highly variable and is correlated with the effects of functional conservation on gene sequences...
  9. pmc Sequence variation within the fragile X locus
    D J Mathews
    Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA
    Genome Res 11:1382-91. 2001
    ..Linkage disequilibrium (LD) at the FMR1 locus, evaluated by conventional LD analysis and by the length of segment shared between any two chromosomes, is extensive across the region...
  10. ncbi Genomic structure of the gene for the SH2 and pleckstrin homology domain-containing protein GRB10 and evaluation of its role in Hirschsprung disease
    M Angrist
    Department of Genetics, Case Western Reserve University and University Hospitals of Cleveland, Ohio 44106 4955, USA
    Oncogene 17:3065-70. 1998
    ..No evidence of linkage was detected in HSCR kindreds and no mutations were found in patients. These data suggest that while GRB10 may be important for signal transduction in developing embryos, it does not play an obvious role in HSCR...
  11. ncbi Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (ch/Mf1) arise from a winged helix/forkhead transcriptionfactor gene
    H K Hong
    Department of Genetics BRB 721 and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, 10900 Euclid Avenue, Cleveland, OH 44106 4955, USA
    Hum Mol Genet 8:625-37. 1999
    ..We also localized a second member of this gene family ( Hfh1 ), a candidate for other developmental defects, approximately 470 kb proximal to Mf1...
  12. ncbi Chromosomal localization of the mouse Src-like adapter protein (Slap) gene and its putative human homolog SLA
    M Angrist
    Department of Genetics, Case Western Reserve University, Cleveland, Ohio 44106 4955, USA
    Genomics 30:623-5. 1995
    ..In this report, the Slap gene was mapped by linkage analysis to mouse chromosome 15, while its putative human homolog (SLA) was identified and mapped to human 8q22.3-qter using a panel of somatic cell hybrids...
  13. ncbi Testing for colon neoplasia susceptibility variants at the human COX2 locus
    G L Wiesner
    Department of Genetics, Center for Human Genetics, Case Western Reserve University, Cleveland, OH, USA
    J Natl Cancer Inst 93:635-9. 2001
    ..In humans, use of pharmacologic inhibitors of COX2 enzyme activity are associated with reduced risk of colon neoplasia. This study examined whether the human COX2 locus may be linked to colon neoplasia in humans...
  14. ncbi Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations
    M M Carrasquillo
    Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland OH 44106, USA
    Hum Mol Genet 6:2163-72. 1997
    ..Importantly, we demonstrate that in small populations with high rates of consanguinity, as compared with large outbred populations, recessive mutations may have very recent origin and show allelic diversity...
  15. ncbi A genetic linkage map of 27 markers on human chromosome 21
    M B Petersen
    Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
    Genomics 9:407-19. 1991
    ..Approximately one-half of the crossovers in either sex occur distally, in terminal band 21q22.3, which also contains 16 of the markers studied. The average distance between adjacent markers was 6 cM...
  16. ncbi Genomic variation in multigenic traits: Hirschsprung disease
    A S McCallion
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Cold Spring Harb Symp Quant Biol 68:373-81. 2003
  17. ncbi Assignment of persephin (PSPN), a human neurotrophic factor, to chromosome 19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR
    B P Chadwick
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown MA, USA
    Cytogenet Cell Genet 83:236-7. 1998
  18. ncbi The winged helix/forkhead transcription factor Foxq1 regulates differentiation of hair in satin mice
    H K Hong
    Genesis 29:163-71. 2001
    ..We show instead that the immune defects are attributable to genetic background differences...
  19. ncbi The fate of 12 recessive mutations in a single village
    J Zlotogora
    Department of Genetic Community Public Health Services, Health Ministry and Hebrew University Jerusalem, Israel
    Ann Hum Genet 71:202-8. 2007
    ..In the case of those frequent ancient mutations, the risk for a relative of an affected individual will be similar whether he marries a close relative or any random individual in the village...
  20. ncbi Comparative analyses of multi-species sequences from targeted genomic regions
    J W Thomas
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nature 424:788-93. 2003
    ..Analysis of transposable element insertions highlights the variation in genome dynamics among these species and confirms the placement of rodents as a sister group to the primates...
  21. ncbi EDNRB/EDN3 and Hirschsprung disease type II
    A S McCallion
    Johns Hopkins University, McKusick-Nathans Institute of Genetic Medicine, Baltimore, Maryland 21287, USA
    Pigment Cell Res 14:161-9. 2001
    ..5 days post-coitum. We review the present understanding of pigment cell development in the context of EDNRB/EDN3--a receptor-mediated pathway with pleiotropic effects...
  22. ncbi The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome
    E M Southard-Smith
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health NIH, Bethesda, Maryland 20892 4472 USA
    Genome Res 9:215-25. 1999
    ..Structural analysis of the HMG DNA-binding domain was performed to evaluate the effect of human mutations in this region...
  23. ncbi Linkage mapping of the AML1 gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region
    D Avramopoulos
    Department of Pediatrics and Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
    Genomics 14:506-7. 1992
    ..Informative CEPH families were genotyped for this polymorphism and used to localize the gene on the linkage map of human chromosome 21. The AML1 gene is located between the markers D21S216 and D21S211, in chromosomal band 21q22.3...
  24. ncbi A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q
    Z Kibar
    Centre for Research in Neurosciences, Montreal General Hospital Research Institute, Montreal, Quebec, H3G 1A4, Canada
    Genomics 56:127-30. 1999
    ..We also describe the isolation of 8 new chromosome 13q polymorphic (CA)n markers that have an average PIC value of 0.67. These data and mapping reagents will facilitate the isolation of disease genes from this region...
  25. ncbi Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3
    H Chen
    Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Genomics 41:193-200. 1997
    ..Targeted disruption of the PKNOX1 homolog in mice will enhance our understanding of its biological function in normal mammalian development...
  26. ncbi Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome
    S Bolk
    Nat Genet 13:395-6. 1996
  27. pmc Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3
    H Chen
    Laboratory of Human Molecular Genetics, Department of Genetics and Microbiology, University of Geneva Medical School, Switzerland
    Am J Hum Genet 59:66-75. 1996
    ..The gene is expressed at various levels in many human tissues. The contributions of this gene to the Down syndrome phenotypes, to human eye color, and to the resulting phenotypes of null or missense mutations are presently unknown...
  28. ncbi A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
    R M Hofstra
    Department of Medical Genetics, University of Groningen, The Netherlands
    Nat Genet 12:445-7. 1996
    ..Depigmentation and deafness were present in other relatives. Moreover, we present a further indication for the involvement of EDNRB in HSCR by reporting a novel mutation detected in one of 40 unselected HSCR patients...
  29. ncbi DNA duplication associated with Charcot-Marie-Tooth disease type 1A
    J R Lupski
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Cell 66:219-32. 1991
    ..We have demonstrated that failure to recognize the molecular duplication can lead to misinterpretation of marker genotypes for affected individuals, identification of false recombinants, and incorrect localization of the disease locus...
  30. ncbi Hirschsprung disease, associated syndromes and genetics: a review
    J Amiel
    Université Paris 5 Descartes, Faculte de Medecine, INSERM U 781, AP HP, Hopital Necker Enfant Malades, Paris, France
    J Med Genet 45:1-14. 2008
    ..Hitherto, 10 genes and five loci have been found to be involved in HSCR development...