Genomes and Genes
Robert B Weiss
Affiliation: University of Utah
- A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addictionRobert 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...
- Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohortKevin M Flanigan
Departments of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA
Hum Mutat 30:1657-66. 2009....
- Gene expression profiling reveals unique pathways associated with differential severity of lyme arthritisHillary 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...
- DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophyKevin 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...
- DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6Olga L Gurvich
Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA
Hum Mutat 30:633-40. 2009....
- Clinical and genetic characterization of manifesting carriers of DMD mutationsPayam 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...
- DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapyOlga 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...
- Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotypingJinchuan 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...
- A human polymorphism affects NEDD4L subcellular targeting by leading to two isoforms that contain or lack a C2 domainNicholas 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...
- Effect of Neuronal Nicotinic Acetylcholine Receptor Genes (CHRN) on Longitudinal Cigarettes per Day in Adolescents and Young AdultsDale 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...
- Down-regulation of hepcidin in porphyria cutanea tardaRichard 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...
- Rapid direct sequence analysis of the dystrophin geneKevin 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...
- EGO, a novel, noncoding RNA gene, regulates eosinophil granule protein transcript expressionLori 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...
- A strong signature of balancing selection in the 5' cis-regulatory region of CCR5Michael 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....
- From genetics to mechanism of disease liabilityAndreas 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...
- Fine-scaled human genetic structure revealed by SNP microarraysJinchuan 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...
- Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathiesRussell 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. ..
- Altered localization of CXCL13 expressing cells in mice deficient in Pactolus following an inflammatory stimulusAndrias 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...
- Bb2Bb3 regulation of murine Lyme arthritis is distinct from Ncf1 and independent of the phagocyte nicotinamide adenine dinucleotide phosphate oxidaseHillary 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...
- Global expression profiling identifies a novel biosignature for protein aggregation R120GCryAB cardiomyopathy in miceNamakkal 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....
- A novel human-infection-derived bacterium provides insights into the evolutionary origins of mutualistic insect-bacterial symbiosesAdam 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...
- Independent evolution of bitter-taste sensitivity in humans and chimpanzeesStephen 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...
- Common variant of human NEDD4L activates a cryptic splice site to form a frameshifted transcriptDiane 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...
- Genome sequence of the Brown Norway rat yields insights into mammalian evolutionRichard 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....
- Initial sequencing and comparative analysis of the mouse genomeRobert 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....
- Further evidence of a quantitative trait locus on chromosome 18 influencing postural change in systolic blood pressure: the Hypertension Genetic Epidemiology Network (HyperGEN) StudyJames 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...
- Replication of chimeric human immunodeficiency virus type 1 (HIV-1) containing HIV-2 integrase (IN): naturally selected mutations in IN augment DNA synthesisMarcus 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...
- Pattern of sequence variation across 213 environmental response genesRobert 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...
- FULL LENGTH SEQUENCING OF CANCER RELATED CDNASRobert 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. ..
- MOUSE GENOME SCAFFOLDINGRobert 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. ..