Research Topics
Genomes and GenesSpecies | Kevin FlaniganSummaryAffiliation: University of Utah Country: USA Publications
Research Grants
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Detail Information
Publications
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...- 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.... 
An unusual pathologic feature associated with dermatomyositisJacinda B Sampson
Department of Neurology, University of Utah, Salt Lake City, UT, USA
Neuromuscul Disord 16:391-3. 2006....- Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codonsMichael 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... - Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiationSara 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... - 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..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... - Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscleMichael 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.... 
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B geneBelen 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....- Proteomic identification of FHL1 as the protein mutated in human reducing body myopathyJoachim 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... - Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophyPatrick 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... - Sarcolemmal reorganization in facioscapulohumeral muscular dystrophyPatrick Reed
Department of Physiology, University of Maryland School of Medicine, Baltimore, MD 21201, USA
Ann Neurol 59:289-97. 2006.... - Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistryMartin Brockington
Dubowitz Neuromuscular Centre, Department of Pediatrics, Hammersmith Hospital, Imperial College London, UK
Prenat Diagn 24:440-4. 2004.... - Readthrough of dystrophin stop codon mutations induced by aminoglycosidesMichael 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... - McArdle's disease presenting as recurrent cryptogenic renal failure due to occult seizuresAdrianne 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 Grants
- Translational Research in the DystrophinopathiesKevin Flanigan; Fiscal Year: 2002..abstract_text> ..
- Translational Research in the DystrophinopathiesKevin 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. ..
- Translational Research in the DystrophinopathiesKevin 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. ..