Kevin Flanigan

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. 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
  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 An unusual pathologic feature associated with dermatomyositis
    Jacinda B Sampson
    Department of Neurology, University of Utah, Salt Lake City, UT, USA
    Neuromuscul Disord 16:391-3. 2006
  4. pmc Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codons
    Michael T Howard
    Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
    EMBO J 24:1596-607. 2005
  5. ncbi request reprint Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation
    Sara T Winokur
    Department of Biological Chemistry, 202 Sprague Hall, University of California, Irvine, CA 92697, USA
    Hum Mol Genet 12:2895-907. 2003
  6. 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
  7. pmc Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle
    Michael J Jurynec
    Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
    Proc Natl Acad Sci U S A 105:12485-90. 2008
  8. doi request reprint Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene
    Belen Bornstein
    Departamento de Bioquimica, Hospital Universitario Puerta de Hierro, Instituto de Investigaciones Biomedicas, CSIC UAM, CIBERER, ISCIII, Madrid, Spain
    Neuromuscul Disord 18:453-9. 2008
  9. pmc Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
    Joachim Schessl
    Division of Neurology, The Children s Hospital of Philadelphia, Pennsylvania Muscle Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    J Clin Invest 118:904-12. 2008
  10. ncbi request reprint Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy
    Patrick W Reed
    Department of Physiology, University of Maryland School of Medicine, 660 W Redwood Street, Baltimore, MD 21201, USA
    Exp Neurol 205:583-6. 2007

Research Grants

  1. Translational Research in the Dystrophinopathies
    Kevin Flanigan; Fiscal Year: 2002
  2. Translational Research in the Dystrophinopathies
    Kevin Flanigan; Fiscal Year: 2007
  3. Translational Research in the Dystrophinopathies
    Kevin Flanigan; Fiscal Year: 2009

Collaborators

Detail Information

Publications14

  1. 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...
  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 An unusual pathologic feature associated with dermatomyositis
    Jacinda B Sampson
    Department of Neurology, University of Utah, Salt Lake City, UT, USA
    Neuromuscul Disord 16:391-3. 2006
    ....
  4. pmc Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codons
    Michael T Howard
    Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
    EMBO J 24:1596-607. 2005
    ..Sequences capable of forming strong RNA structures were also identified 3' adjacent to, or near, selenocysteine-encoding UGA codons in the Sps2, SelH, SelO, and SelT selenoprotein genes...
  5. ncbi request reprint Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation
    Sara T Winokur
    Department of Biological Chemistry, 202 Sprague Hall, University of California, Irvine, CA 92697, USA
    Hum Mol Genet 12:2895-907. 2003
    ..Improper nuclear localization of 4qter is discussed as an alternative model for FSHD gene regulation and pathogenesis...
  6. 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
    ..quot; 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...
  7. pmc Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle
    Michael J Jurynec
    Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
    Proc Natl Acad Sci U S A 105:12485-90. 2008
    ....
  8. doi request reprint Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene
    Belen Bornstein
    Departamento de Bioquimica, Hospital Universitario Puerta de Hierro, Instituto de Investigaciones Biomedicas, CSIC UAM, CIBERER, ISCIII, Madrid, Spain
    Neuromuscul Disord 18:453-9. 2008
    ....
  9. pmc Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
    Joachim Schessl
    Division of Neurology, The Children s Hospital of Philadelphia, Pennsylvania Muscle Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    J Clin Invest 118:904-12. 2008
    ..Thus, a novel laser microdissection/proteomics approach has helped identify both inherited and de novo mutations in FHL1, thereby defining a new X-linked protein aggregation disorder of muscle...
  10. ncbi request reprint Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy
    Patrick W Reed
    Department of Physiology, University of Maryland School of Medicine, 660 W Redwood Street, Baltimore, MD 21201, USA
    Exp Neurol 205:583-6. 2007
    ..It is also linked to retinal and inner ear defects, common in FSHD, suggesting that its up-regulation may play a specific and important role in pathogenesis of FSHD...
  11. ncbi request reprint Sarcolemmal reorganization in facioscapulohumeral muscular dystrophy
    Patrick Reed
    Department of Physiology, University of Maryland School of Medicine, Baltimore, MD 21201, USA
    Ann Neurol 59:289-97. 2006
    ....
  12. ncbi request reprint Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry
    Martin Brockington
    Dubowitz Neuromuscular Centre, Department of Pediatrics, Hammersmith Hospital, Imperial College London, UK
    Prenat Diagn 24:440-4. 2004
    ..We undertook two prenatal diagnoses for UCMD in a consanguineous family where the disease was consistent with linkage to the COL6A3 locus and immunolabelling of collagen VI in the proband's skeletal muscle was severely reduced...
  13. ncbi request reprint Readthrough of dystrophin stop codon mutations induced by aminoglycosides
    Michael T Howard
    Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
    Ann Neurol 55:422-6. 2004
    ..Readthrough levels do not substantially vary between different sources of gentamicin, and, for this set of mutations, the efficiency of termination at the premature stop codon mutation does not appear to correlate with disease severity...
  14. ncbi request reprint McArdle's disease presenting as recurrent cryptogenic renal failure due to occult seizures
    Adrianne R Walker
    Department of Neurology, University of Utah, Salt Lake City, Utah 84112, USA
    Muscle Nerve 28:640-3. 2003
    ..In the absence of a clear exertional cause for myoglobinuria, an occult seizure disorder should be suspected...

Research Grants9

  1. Translational Research in the Dystrophinopathies
    Kevin Flanigan; Fiscal Year: 2002
    ..abstract_text> ..
  2. Translational Research in the Dystrophinopathies
    Kevin Flanigan; Fiscal Year: 2007
    ..Although we do not propose to perform treatment trials at present, this proposed study will identify cohorts of patients who may be candidates for any future trials here or at other institutions. ..
  3. Translational Research in the Dystrophinopathies
    Kevin Flanigan; Fiscal Year: 2009
    ..Although we do not propose to perform treatment trials at present, this proposed study will identify cohorts of patients who may be candidates for any future trials here or at other institutions. ..