J W Day

Summary

Affiliation: University of Minnesota
Country: USA

Publications

  1. ncbi request reprint Genetics and molecular pathogenesis of the myotonic dystrophies
    John W Day
    Department of Neurology, Institute of Human Genetics, MMC 206, University of Minnesota School of Medicine, 420 Delaware Street SE, Minneapolis, MN 55455, USA
    Curr Neurol Neurosci Rep 5:55-9. 2005
  2. ncbi request reprint Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum
    J W Day
    Institute of Human Genetics, Department of Neurology, University of Minnesota School of Medicine, Minneapolis, MN 55455, USA
    Neurology 60:657-64. 2003
  3. ncbi request reprint RNA pathogenesis of the myotonic dystrophies
    John W Day
    Institute of Human Genetics, University of Minnesota, School of Medicine, Minneapolis, MN 55455, USA
    Neuromuscul Disord 15:5-16. 2005
  4. ncbi request reprint Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA
    M D Koob
    Department of Neurology, University of Minnesota, Minneapolis 55455, USA
    Nat Genet 18:72-5. 1998
  5. ncbi request reprint Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
    C L Liquori
    Institute of Human Genetics MMC 206, 420 Delaware Street SE, University of Minnesota, Minneapolis, MN 55455, USA
    Science 293:864-7. 2001
  6. ncbi request reprint An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
    M D Koob
    Department of Neurology, Institute of Human Genetics, University of Minnesota, Minneapolis 55455, USA
    Nat Genet 21:379-84. 1999
  7. ncbi request reprint Genetic mapping of a second myotonic dystrophy locus
    L P Ranum
    Department of Neurology and Institute of Human Genetics, University of Minnesota, Minneapolis 55455, USA
    Nat Genet 19:196-8. 1998
  8. ncbi request reprint Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)
    J W Day
    Department of Neurology, University of Minnesota, Minneapolis 55455 0323, USA
    Neuromuscul Disord 9:19-27. 1999
  9. ncbi request reprint Clinical illness due to parvovirus B19 infection after infusion of solvent/detergent-treated pooled plasma
    U F Koenigbauer
    Department of Laboratory Medicine and Pathology and of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA
    Transfusion 40:1203-6. 2000
  10. ncbi request reprint Targeting parents for the treatment of pediatric obesity in boys with Duchenne muscular dystrophy: a case series
    A Arikian
    Department of Psychiatry, University of Minnesota, 606 24th Ave S, Suite 602, Minneapolis, MN 55454, USA
    Eat Weight Disord 15:e161-5. 2010

Collaborators

Detail Information

Publications26

  1. ncbi request reprint Genetics and molecular pathogenesis of the myotonic dystrophies
    John W Day
    Department of Neurology, Institute of Human Genetics, MMC 206, University of Minnesota School of Medicine, 420 Delaware Street SE, Minneapolis, MN 55455, USA
    Curr Neurol Neurosci Rep 5:55-9. 2005
    ..Clinical and molecular characterization of myotonic dystrophy types 1 and 2 have now demonstrated a novel disease mechanism involving pathogenic effects of repeat expansions that are expressed in RNA but are not translated into protein...
  2. ncbi request reprint Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum
    J W Day
    Institute of Human Genetics, Department of Neurology, University of Minnesota School of Medicine, Minneapolis, MN 55455, USA
    Neurology 60:657-64. 2003
    ..The authors have characterized the clinical and molecular features of DM2/PROMM, which is caused by a CCTG repeat expansion in intron 1 of the zinc finger protein 9 (ZNF9) gene...
  3. ncbi request reprint RNA pathogenesis of the myotonic dystrophies
    John W Day
    Institute of Human Genetics, University of Minnesota, School of Medicine, Minneapolis, MN 55455, USA
    Neuromuscul Disord 15:5-16. 2005
    ..Although other mechanisms may underlie the differences between DM1 and DM2, the pathogenic effects of the RNA mechanism are now clear, which will facilitate development of appropriate treatments...
  4. ncbi request reprint Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA
    M D Koob
    Department of Neurology, University of Minnesota, Minneapolis 55455, USA
    Nat Genet 18:72-5. 1998
    ..We have used this technique to clone the pathogenic SCA7 CAG expansion from an archived DNA sample of an individual affected with ataxia and retinal degeneration...
  5. ncbi request reprint Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
    C L Liquori
    Institute of Human Genetics MMC 206, 420 Delaware Street SE, University of Minnesota, Minneapolis, MN 55455, USA
    Science 293:864-7. 2001
    ..Parallels between these mutations indicate that microsatellite expansions in RNA can be pathogenic and cause the multisystemic features of DM1 and DM2...
  6. ncbi request reprint An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
    M D Koob
    Department of Neurology, Institute of Human Genetics, University of Minnesota, Minneapolis 55455, USA
    Nat Genet 21:379-84. 1999
    ..SCA8 patients have expansions similar in size (107-127 CTG repeats) to those found among adult-onset DM patients. SCA8 is the first example of a dominant SCA not caused by a CAG expansion translated as a polyglutamine tract...
  7. ncbi request reprint Genetic mapping of a second myotonic dystrophy locus
    L P Ranum
    Department of Neurology and Institute of Human Genetics, University of Minnesota, Minneapolis 55455, USA
    Nat Genet 19:196-8. 1998
    ..Understanding the common molecular features of two different forms of the disease should shed light on the mechanisms responsible for the broad constellation of seemingly unrelated clinical features present in both diseases...
  8. ncbi request reprint Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)
    J W Day
    Department of Neurology, University of Minnesota, Minneapolis 55455 0323, USA
    Neuromuscul Disord 9:19-27. 1999
    ..This second form of myotonic dystrophy may help resolve the confusion that remains about how the CTG repeat expansion in the 3' untranslated portion of the myotonin protein kinase gene causes the multisystem involvement of DM...
  9. ncbi request reprint Clinical illness due to parvovirus B19 infection after infusion of solvent/detergent-treated pooled plasma
    U F Koenigbauer
    Department of Laboratory Medicine and Pathology and of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA
    Transfusion 40:1203-6. 2000
    ..A patient is described who developed a clinical illness due to parvovirus B19 infection after the infusion of S/D plasma...
  10. ncbi request reprint Targeting parents for the treatment of pediatric obesity in boys with Duchenne muscular dystrophy: a case series
    A Arikian
    Department of Psychiatry, University of Minnesota, 606 24th Ave S, Suite 602, Minneapolis, MN 55454, USA
    Eat Weight Disord 15:e161-5. 2010
    ..Participant ratings of treatment suitability and satisfaction were generally favorable. These preliminary findings support the use of parent-focused psychoeducation for the treatment of obesity in children with DMD...
  11. pmc Myotonic dystrophy: RNA pathogenesis comes into focus
    Laura P W Ranum
    Institute of Human Genetics, University of Minnesota, Minneapolis, MN 55455, USA
    Am J Hum Genet 74:793-804. 2004
    ....
  12. pmc White matter abnormalities and neurocognitive correlates in children and adolescents with myotonic dystrophy type 1: a diffusion tensor imaging study
    Jeffrey R Wozniak
    Department of Psychiatry, University of Minnesota, Twin Cities, Minneapolis, MN 55454, USA
    Neuromuscul Disord 21:89-96. 2011
    ..Results indicate that significant white matter abnormality is characteristic of young patients with myotonic dystrophy type 1 and that the white matter abnormality seen with neuroimaging has implications for cognitive functioning...
  13. ncbi request reprint Autoimmune rippling muscle
    Suraj Ashok Muley
    Department of Neurology, University of Minnesota, Minneapolis, USA
    Neurology 61:869-70. 2003
  14. ncbi request reprint Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2
    Laura P W Ranum
    Institute of Human Genetics, University of Minnesota, MMC 206, 420 Delaware Street SE, Minneapolis, MN 55455, USA
    Curr Neurol Neurosci Rep 2:465-70. 2002
    ....
  15. ncbi request reprint Dominantly inherited, non-coding microsatellite expansion disorders
    Laura P W Ranum
    Institute of Human Genetics, University of Minnesota, MMC 206, 420 Delaware Street SE, Minneapolis, Minnesota 55455, USA
    Curr Opin Genet Dev 12:266-71. 2002
    ..Pathogenic repeat expansions in RNA may also be involved in spinocerebellar ataxia types 8, 10 and 12, and Huntington's disease-like type 2...
  16. ncbi request reprint Pathogenic RNA repeats: an expanding role in genetic disease
    Laura P W Ranum
    Institute of Human Genetics, MMC 206, 420 Delaware St S E, University of Minnesota, Minneapolis, MN 55455, USA
    Trends Genet 20:506-12. 2004
    ..This review will detail recent developments on the molecular mechanisms of RNA pathogenesis in DM, and the growing number of expansion disorders that might involve similar pathogenic RNA mechanisms...
  17. ncbi request reprint DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression
    Jamie M Margolis
    Department of Genetics, Cell Biology and Development, University of Minnesota, 420 Delaware Street SE, Minneapolis, MN 55455, USA
    Hum Mol Genet 15:1808-15. 2006
    ..These data suggest that the downstream molecular effects of the DM2 mutation are triggered by the accumulation of CCUG repeat tract alone...
  18. ncbi request reprint Molecular genetics of spinocerebellar ataxia type 8 (SCA8)
    A K Mosemiller
    Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN 55455, USA
    Cytogenet Genome Res 100:175-83. 2003
    ..This slowly progressive form of ataxia is characterized by dramatic repeat instability and a high degree of reduced penetrance. The clinical and genetic features of the disease are discussed below...
  19. pmc Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia
    Yoshio Ikeda
    Institute of Human Genetics and Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, 55455, USA
    Am J Hum Genet 75:3-16. 2004
    ....
  20. pmc Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract
    Christina L Liquori
    Institute of Human Genetics, and Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN 55455, USA
    Am J Hum Genet 73:849-62. 2003
    ..The complex repeat motif and flanking sequences within intron 1 are conserved among human, chimpanzee, gorilla, mouse, and rat, suggesting a conserved biological function...
  21. ncbi request reprint Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8
    Melinda L Moseley
    Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, Minnesota 55455, USA
    Nat Genet 38:758-69. 2006
    ....
  22. ncbi request reprint A transgenic mouse model of the slow-channel syndrome
    C M Gomez
    Department of Neurology, University of Minnesota, Minneapolis, USA
    Muscle Nerve 19:79-87. 1996
    ..Furthermore these data support the hypothesis that the electrophysiological findings in the neuromuscular disorder, the slow-channel syndrome, are due to mutant AChRs...
  23. ncbi request reprint Spectrin mutations cause spinocerebellar ataxia type 5
    Yoshio Ikeda
    Department of Genetics, Cell Biology, and Development, University of Minnesota, 321 Church St SE, Minneapolis, Minnesota 55455 USA
    Nat Genet 38:184-90. 2006
    ..Spectrin mutations are a previously unknown cause of ataxia and neurodegenerative disease that affect membrane proteins involved in glutamate signaling...
  24. pmc SNP haplotype mapping in a small ALS family
    Katherine A Dick Krueger
    Department of Genetics, University of Minnesota, Minneapolis, Minnesota, United States of America
    PLoS ONE 4:e5687. 2009
    ..Our study illustrates how genetic information can be maximized using readily available tools as a first step in mapping single-gene disorders in small families...
  25. ncbi request reprint Force assessment in periodic paralysis after electrical muscle stimulation
    John W Day
    Department of Neurology, University of Minnesota School of Medicine, Minneapolis 55455, USA
    Mayo Clin Proc 77:232-40. 2002
    ..Manual strength assessment was simultaneously performed in a blinded fashion. Standardized provocation procedures were used...
  26. doi request reprint Congenital muscular dystrophy in a new age
    John W Day
    Neurology 71:308-9. 2008

Research Grants5

  1. Structural and Functional CNS Changes in Myotonic Dystrophy Types 1 and 2
    John Day; Fiscal Year: 2007
    ..Our large population of DM subjects, and our unique imaging and neuropsychological capabilities, will now help us understand the devastating CNS features of DM. ..
  2. Structural and Functional CNS Changes in Myotonic Dystrophy Types 1 and 2
    John Day; Fiscal Year: 2009
    ..Our large population of DM subjects, and our unique imaging and neuropsychological capabilities, will now help us understand the devastating CNS features of DM. ..
  3. Structural and Functional CNS Changes in Myotonic Dystrophy Types 1 and 2
    John W Day; Fiscal Year: 2010
    ..Our large population of DM subjects, and our unique imaging and neuropsychological capabilities, will now help us understand the devastating CNS features of DM. ..