Robert B Weiss

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. pmc A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction
    Robert B Weiss
    Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, United States of America
    PLoS Genet 4:e1000125. 2008
  2. pmc Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort
    Kevin M Flanigan
    Departments of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA
    Hum Mutat 30:1657-66. 2009
  3. ncbi request reprint Gene expression profiling reveals unique pathways associated with differential severity of lyme arthritis
    Hillary Crandall
    Department of Pathology, University of Utah School of Medicine, 15 North Medical Drive East, Salt Lake City, UT 84112, USA
    J Immunol 177:7930-42. 2006
  4. pmc DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy
    Kevin M Flanigan
    Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, United States of America
    Neuromuscul Disord 19:743-8. 2009
  5. pmc DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6
    Olga L Gurvich
    Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA
    Hum Mutat 30:633-40. 2009
  6. pmc Clinical and genetic characterization of manifesting carriers of DMD mutations
    Payam Soltanzadeh
    Department of Human Genetics, University of Utah, Salt Lake City, UT, USA
    Neuromuscul Disord 20:499-504. 2010
  7. ncbi request reprint Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies
    Russell J Butterfield
    University of Utah, Departments of Pediatrics and Neurology, Salt Lake City, Utah
    Hum Mutat 34:1558-67. 2013
  8. ncbi request reprint DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy
    Olga L Gurvich
    Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA
    Ann Neurol 63:81-9. 2008
  9. pmc Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping
    Jinchuan Xing
    Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
    Genomics 96:199-210. 2010
  10. pmc Association of the CHRNA4 Neuronal Nicotinic Receptor Subunit Gene with Frequency of Binge Drinking in Young Adults
    Hilary Coon
    Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, Utah
    Alcohol Clin Exp Res 38:930-7. 2014

Research Grants

  1. FULL LENGTH SEQUENCING OF CANCER RELATED CDNAS
    Robert Weiss; Fiscal Year: 1999
  2. FULL LENGTH SEQUENCING OF CANCER RELATED CDNAS
    Robert Weiss; Fiscal Year: 2000
  3. FULL LENGTH SEQUENCING OF CANCER RELATED CDNAS
    Robert Weiss; Fiscal Year: 2000
  4. FULL LENGTH SEQUENCING OF CANCER RELATED CDNAS
    Robert Weiss; Fiscal Year: 2001
  5. MOUSE GENOME SCAFFOLDING
    Robert Weiss; Fiscal Year: 2003

Detail Information

Publications29

  1. pmc A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction
    Robert B Weiss
    Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, United States of America
    PLoS Genet 4:e1000125. 2008
    ..The identification of an age-dependent susceptibility haplotype reinforces the importance of preventing early exposure to tobacco through public health policies...
  2. pmc Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort
    Kevin M Flanigan
    Departments of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA
    Hum Mutat 30:1657-66. 2009
    ....
  3. ncbi request reprint Gene expression profiling reveals unique pathways associated with differential severity of lyme arthritis
    Hillary Crandall
    Department of Pathology, University of Utah School of Medicine, 15 North Medical Drive East, Salt Lake City, UT 84112, USA
    J Immunol 177:7930-42. 2006
    ..The gene expression profiles identified in this study add to the current understanding of the host response to B. burgdorferi and identify two novel pathways that may be involved in regulating the severity of Lyme arthritis...
  4. pmc DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy
    Kevin M Flanigan
    Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, United States of America
    Neuromuscul Disord 19:743-8. 2009
    ..The discovery of the first DMD founder mutation, associated with a mild Becker phenotype, suggests that the prevalence of hypomorphic dystrophin mutations should be re-examined with the use of improved genomic analysis...
  5. pmc DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6
    Olga L Gurvich
    Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA
    Hum Mutat 30:633-40. 2009
    ....
  6. pmc Clinical and genetic characterization of manifesting carriers of DMD mutations
    Payam Soltanzadeh
    Department of Human Genetics, University of Utah, Salt Lake City, UT, USA
    Neuromuscul Disord 20:499-504. 2010
    ..Our results demonstrate that improved molecular diagnostic methods facilitate the identification of DMD mutations in manifesting carriers, and confirm the heterogeneity of mutational mechanisms as well as the wide spectrum of phenotypes...
  7. ncbi request reprint Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies
    Russell J Butterfield
    University of Utah, Departments of Pediatrics and Neurology, Salt Lake City, Utah
    Hum Mutat 34:1558-67. 2013
    ..We hypothesize that this region may represent a functional domain within the triple helix. ..
  8. ncbi request reprint DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy
    Olga L Gurvich
    Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA
    Ann Neurol 63:81-9. 2008
    ..We sought to test the hypothesis that the clinical phenotype correlates with splicing efficiency of these mutations, and to test the feasibility of antisense oligonucleotide (AON)-mediated pseudoexon skipping...
  9. pmc Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping
    Jinchuan Xing
    Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
    Genomics 96:199-210. 2010
    ..We also found a substantial affinity between populations from central Asia (Kyrgyzstani and Mongolian Buryat) and America, suggesting a central Asian contribution to New World founder populations...
  10. pmc Association of the CHRNA4 Neuronal Nicotinic Receptor Subunit Gene with Frequency of Binge Drinking in Young Adults
    Hilary Coon
    Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, Utah
    Alcohol Clin Exp Res 38:930-7. 2014
    ..Knowledge of genetic aspects of this behavior, particularly as it emerges in young adulthood, could lead to improved treatment and prevention programs...
  11. pmc A human polymorphism affects NEDD4L subcellular targeting by leading to two isoforms that contain or lack a C2 domain
    Nicholas F Garrone
    Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, USA
    BMC Cell Biol 10:26. 2009
    ..We previously identified a common variant in human NEDD4L that generates isoforms that contain or lack a C2 domain...
  12. pmc Effect of Neuronal Nicotinic Acetylcholine Receptor Genes (CHRN) on Longitudinal Cigarettes per Day in Adolescents and Young Adults
    Dale S Cannon
    Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, UT
    Nicotine Tob Res 16:137-44. 2014
    ..Few studies have sought to identify specific genetic markers associated with cigarettes per day (CPD) during adolescence and young adulthood, the period of greatest vulnerability for the development of nicotine dependence...
  13. pmc Down-regulation of hepcidin in porphyria cutanea tarda
    Richard S Ajioka
    Division of Hematology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    Blood 112:4723-8. 2008
    ..These data indicate that the hepatic siderosis associated with PCT likely results from dysregulated HAMP...
  14. pmc A strong signature of balancing selection in the 5' cis-regulatory region of CCR5
    Michael J Bamshad
    Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA
    Proc Natl Acad Sci U S A 99:10539-44. 2002
    ....
  15. pmc EGO, a novel, noncoding RNA gene, regulates eosinophil granule protein transcript expression
    Lori A Wagner
    School of Medicine, Department of Dermatology, University of Utah, Salt Lake City, Utah 84132, USA
    Blood 109:5191-8. 2007
    ..Therefore, EGO is a novel ncRNA gene expressed during eosinophil development and is necessary for normal MBP and EDN transcript expression...
  16. pmc Rapid direct sequence analysis of the dystrophin gene
    Kevin M Flanigan
    Department of Neurology, University of Utah, Salt Lake City, UT, USA
    Am J Hum Genet 72:931-9. 2003
    ..This same method, termed "SCAIP" (single condition amplification/internal primer) sequencing, is applicable to other genes and should allow the development of widely available assays for any number of large, multiexon genes...
  17. doi request reprint From genetics to mechanism of disease liability
    Andreas Rohrwasser
    Department of Human Genetics, The University of Utah School of Medicine, Salt Lake City, Utah, USA
    Adv Genet 60:701-26. 2008
    ..While this is still work in progress, we think it abundantly illustrates what is ahead of us in delineating genetic variation that underlie complex disease...
  18. pmc Fine-scaled human genetic structure revealed by SNP microarrays
    Jinchuan Xing
    Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
    Genome Res 19:815-25. 2009
    ..Our results emphasize the correlation of genetic and geographic distances and highlight other elements, including social factors that have contributed to population structure...
  19. pmc Bb2Bb3 regulation of murine Lyme arthritis is distinct from Ncf1 and independent of the phagocyte nicotinamide adenine dinucleotide phosphate oxidase
    Hillary Crandall
    Department of Pathology, University of Utah School of Medicine, 30 North 1900 East, Salt Lake City, UT 84132
    Am J Pathol 167:775-85. 2005
    ..Together, these results argue that Ncf1 is not a candidate gene for regulation of Lyme arthritis and reveal Lyme arthritis to be independent of NADPH oxidase activity, distinguishing it from other models of rheumatoid arthritis...
  20. pmc Global expression profiling identifies a novel biosignature for protein aggregation R120GCryAB cardiomyopathy in mice
    Namakkal S Rajasekaran
    Departments of Internal Medicine, Division of Cardiology, Center for Cardiovascular Translational Biomedicine, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA
    Physiol Genomics 35:165-72. 2008
    ....
  21. pmc Altered localization of CXCL13 expressing cells in mice deficient in Pactolus following an inflammatory stimulus
    Andrias Hojgaard
    Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    Immunology 119:212-23. 2006
    ..These data suggest that during an inflammatory response, Pactolus may help retain CXCL13-expressing cells within the peritoneal environment...
  22. pmc A novel human-infection-derived bacterium provides insights into the evolutionary origins of mutualistic insect-bacterial symbioses
    Adam L Clayton
    Department of Biology, University of Utah, Salt Lake City, Utah, United States of America
    PLoS Genet 8:e1002990. 2012
    ..They also elucidate the role of degenerative evolutionary processes in shaping the gene inventories of symbiotic bacteria at a very early stage in these mutualistic associations...
  23. ncbi request reprint Independent evolution of bitter-taste sensitivity in humans and chimpanzees
    Stephen Wooding
    Department of Human Genetics, University of Utah, 15 North 2030 East, Salt Lake City, Utah 84112 5330, USA
    Nature 440:930-4. 2006
    ..Humans and chimpanzees share variable taste sensitivity to bitter compounds mediated by PTC receptor variants, but the molecular basis of this variation has arisen twice, independently, in the two species...
  24. ncbi request reprint Common variant of human NEDD4L activates a cryptic splice site to form a frameshifted transcript
    Diane M Dunn
    Department of Human Genetics, Rm 308 BPRB, 20 South 2030 East, University of Utah, Salt Lake City, UT 84112, USA
    J Hum Genet 47:665-76. 2002
    ..Differential function of NEDD4L isoforms could prove significant in blood pressure regulation through an effect on ENaC-dependent sodium reabsorption...
  25. ncbi request reprint Initial sequencing and comparative analysis of the mouse genome
    Robert H Waterston
    Genome Sequencing Center, Washington University School of Medicine, Campus Box 8501, 4444 Forest Park Avenue, St Louis, Missouri 63108, USA
    Nature 420:520-62. 2002
    ....
  26. ncbi request reprint Genome sequence of the Brown Norway rat yields insights into mammalian evolution
    Richard A Gibbs
    Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, MS BCM226, One Baylor Plaza, Houston, Texas 77030, USA lt http www hgsc bcm tmc edu
    Nature 428:493-521. 2004
    ....
  27. pmc Replication of chimeric human immunodeficiency virus type 1 (HIV-1) containing HIV-2 integrase (IN): naturally selected mutations in IN augment DNA synthesis
    Marcus Padow
    Departments of Microbiology Medicine Center for Biophysical Sciences and Engineering, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    J Virol 77:11050-9. 2003
    ..Moreover, they implicate specific regions on the surface of IN that may help to elucidate mechanisms by which the HIV-1 IN protein augments the initiation of HIV-1 reverse transcription in vivo...
  28. ncbi request reprint Further evidence of a quantitative trait locus on chromosome 18 influencing postural change in systolic blood pressure: the Hypertension Genetic Epidemiology Network (HyperGEN) Study
    James S Pankow
    Division of Epidemiology and Community Health, University of Minnesota, Minneapolis, Minnesota 55454, USA
    Am J Hypertens 18:672-8. 2005
    ..The objective of this study was to characterize further a possible quantitative trait locus on chromosome 18q21 influencing SBP response to a postural challenge...
  29. pmc Pattern of sequence variation across 213 environmental response genes
    Robert J Livingston
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195 7730, USA
    Genome Res 14:1821-31. 2004
    ..The implications for the use of these data in direct and indirect association studies of environmentally induced diseases are discussed...

Research Grants5

  1. FULL LENGTH SEQUENCING OF CANCER RELATED CDNAS
    Robert Weiss; Fiscal Year: 1999
    ..The sequencing goals are 800 full IMAGE clone contigs and 250 full-length sequences completed per year. This new sequence will facilitate the efforts of researchers studying the molecular and cellular biology of cancer. ..
  2. FULL LENGTH SEQUENCING OF CANCER RELATED CDNAS
    Robert Weiss; Fiscal Year: 2000
    ..The sequencing goals are 800 full IMAGE clone contigs and 250 full-length sequences completed per year. This new sequence will facilitate the efforts of researchers studying the molecular and cellular biology of cancer. ..
  3. FULL LENGTH SEQUENCING OF CANCER RELATED CDNAS
    Robert Weiss; Fiscal Year: 2000
    ..The sequencing goals are 800 full IMAGE clone contigs and 250 full-length sequences completed per year. This new sequence will facilitate the efforts of researchers studying the molecular and cellular biology of cancer. ..
  4. FULL LENGTH SEQUENCING OF CANCER RELATED CDNAS
    Robert Weiss; Fiscal Year: 2001
    ..The sequencing goals are 800 full IMAGE clone contigs and 250 full-length sequences completed per year. This new sequence will facilitate the efforts of researchers studying the molecular and cellular biology of cancer. ..
  5. MOUSE GENOME SCAFFOLDING
    Robert Weiss; Fiscal Year: 2003
    ..This effort will contribute to completion of the mouse genome by providing a finishing resource, and will contribute to analyzing the human genome by accelerating the assembly and finishing of the mouse working draft. ..