dystrophin

Summary

Gene Symbol: dystrophin
Description: dystrophin
Alias: BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85, dystrophin
Species: human

Top Publications

  1. ncbi Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy
    J E Brenman
    Department of Physiology, University of California, San Francisco School of Medicine 94143 0444, USA
    Cell 82:743-52. 1995
  2. ncbi Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy
    D L Sherman
    Department of Preclinical Veterinary Sciences, University of Edinburgh, EH9 1QH, Edinburgh, United Kingdom
    Neuron 30:677-87. 2001
  3. pmc A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy
    Arjan P M de Brouwer
    1 Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 2 Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 3 Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands
    Eur J Hum Genet 22:480-5. 2014
  4. ncbi Apo-dystrophin-3: a 2.2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site
    J M Tinsley
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Hum Mol Genet 2:521-4. 1993
  5. ncbi Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy
    C Bastianutto
    Ontario Cancer Institute, Princess Margaret Hospital, University Health Network and Department of Medical Biophysics, University of Toronto, 610 University Avenue, Toronto, Ontario, M5G 2M9, Canada
    Hum Mol Genet 10:2627-35. 2001
  6. pmc Point mutations in the dystrophin gene
    R G Roberts
    Paediatric Research Unit, United Medical School, Guy s Campus, London, United Kingdom
    Proc Natl Acad Sci U S A 89:2331-5. 1992
  7. ncbi Characterisation of alpha-dystrobrevin in muscle
    R Nawrotzki
    Genetics Unit, Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK
    J Cell Sci 111:2595-605. 1998
  8. 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
  9. pmc Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy
    Peter J Taylor
    Molecular and Cytogenetics Unit, Department of Haematology and Genetics, Prince of Wales Hospital, Randwick, Sydney, New South Wales, Australia
    PLoS ONE 5:e8803. 2010
  10. doi Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up
    Francesca Magri
    Department of Neurological Sciences, Dino Ferrari Centre, University of Milan, I R C C S Foundation Ca Granda, Ospedale Maggiore Policlinico, Padiglione Ponti, Via Francesco Sforza 35, 20122 Milan, Italy
    J Neurol 258:1610-23. 2011

Research Grants

  1. Salivary-based Bone-loss Marker Detection Platform for Point-of-Care Screening
    MANAL BESHAY; Fiscal Year: 2012
  2. Epidemiologic Study of Bone Marrow Fat and Osteoporosis
    Jane Cauley; Fiscal Year: 2010
  3. Todd T Brown; Fiscal Year: 2014
  4. Early effects of PTH on the proximal femur
    Felicia Cosman; Fiscal Year: 2013
  5. Roger Bedimo; Fiscal Year: 2015
  6. Clinical Validation of BCT - Phase II
    DAVID KOPPERDAHL; Fiscal Year: 2010
  7. Targeted Sequencing of 3 Loci Associated with BMD in the Framingham Osteoporosis
    Douglas P Kiel; Fiscal Year: 2012
  8. Osteoporosis and Bone Augmentation/Implant Outcomes: An Observational Study
    Martin A Freilich; Fiscal Year: 2010
  9. Anjali Sharma; Fiscal Year: 2016
  10. Felix W Wehrli; Fiscal Year: 2014

Detail Information

Publications284 found, 100 shown here

  1. ncbi Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy
    J E Brenman
    Department of Physiology, University of California, San Francisco School of Medicine 94143 0444, USA
    Cell 82:743-52. 1995
    ..We show that nNOS partitions with skeletal muscle membranes owing to association of nNOS with dystrophin, the protein mutated in Duchenne muscular dystrophy (DMD)...
  2. ncbi Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy
    D L Sherman
    Department of Preclinical Veterinary Sciences, University of Edinburgh, EH9 1QH, Edinburgh, United Kingdom
    Neuron 30:677-87. 2001
    Dystroglycan-dystrophin complexes are believed to have structural and signaling functions by linking extracellular matrix proteins to the cytoskeleton and cortical signaling molecules...
  3. pmc A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy
    Arjan P M de Brouwer
    1 Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 2 Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 3 Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands
    Eur J Hum Genet 22:480-5. 2014
    We have identified a deletion of 3 base pairs in the dystrophin gene (DMD), c.9711_9713del, in a family with nonspecific X-linked intellectual disability (ID) by sequencing of the exons of 86 known X-linked ID genes...
  4. ncbi Apo-dystrophin-3: a 2.2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site
    J M Tinsley
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Hum Mol Genet 2:521-4. 1993
    ..dystrophy is well established as being due to mutations at Xp21 which disrupt the normal synthesis of the 14kb dystrophin mRNA. More recently, several groups have identified a 4...
  5. ncbi Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy
    C Bastianutto
    Ontario Cancer Institute, Princess Margaret Hospital, University Health Network and Department of Medical Biophysics, University of Toronto, 610 University Avenue, Toronto, Ontario, M5G 2M9, Canada
    Hum Mol Genet 10:2627-35. 2001
    ..Several XLDC patients have been described with mutations that abolish dystrophin muscle (M) isoform expression...
  6. pmc Point mutations in the dystrophin gene
    R G Roberts
    Paediatric Research Unit, United Medical School, Guy s Campus, London, United Kingdom
    Proc Natl Acad Sci U S A 89:2331-5. 1992
    ..of Duchenne muscular dystrophy patients remain unknown as they do not involve gross rearrangements of the dystrophin gene. The size and complexity of the gene have prohibited the systematic definition of point mutations...
  7. ncbi Characterisation of alpha-dystrobrevin in muscle
    R Nawrotzki
    Genetics Unit, Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK
    J Cell Sci 111:2595-605. 1998
    b>Dystrophin-related and associated proteins are important for the formation and maintenance of the mammalian neuromuscular junction...
  8. 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
    Mutations in the dystrophin gene result in both Duchenne and Becker muscular dystrophy (DMD and BMD), as well as X-linked dilated cardiomyopathy...
  9. pmc Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy
    Peter J Taylor
    Molecular and Cytogenetics Unit, Department of Haematology and Genetics, Prince of Wales Hospital, Randwick, Sydney, New South Wales, Australia
    PLoS ONE 5:e8803. 2010
    ..In this study we report correlations between standardised measures of intelligence and mutational class, mutation size, mutation location and the involvement of dystrophin isoforms.
  10. doi Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up
    Francesca Magri
    Department of Neurological Sciences, Dino Ferrari Centre, University of Milan, I R C C S Foundation Ca Granda, Ospedale Maggiore Policlinico, Padiglione Ponti, Via Francesco Sforza 35, 20122 Milan, Italy
    J Neurol 258:1610-23. 2011
    ..presentations and severity determined by mutations in the gene DMD, which encodes the sarcolemmal protein dystrophin. Diagnosis is based on clinical aspects and muscle protein analysis, followed by molecular confirmation...
  11. ncbi Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene
    Christophe Beroud
    Institut Cochin and Laboratory of Molecular Genetics, Cochin Hospital, Paris, France
    Neuromuscul Disord 14:10-8. 2004
    In the course of a mutation search performed by muscle dystrophin transcript analysis in 72 Duchenne and Becker Muscular Dystrophies (DMD/BMD) patients without gross gene defect, we encountered four unrelated cases with additional out-of-..
  12. pmc Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy
    N Narita
    Department of Pediatrics, Kobe University School of Medicine, Japan
    J Clin Invest 91:1862-7. 1993
    We report here the second evidence of retrotransposition of L1, which was found inserted into the dystrophin gene of a patient, causing Duchenne muscular dystrophy (DMD)...
  13. ncbi An alternative dystrophin transcript specific to peripheral nerve
    T J Byers
    Howard Hughes Medical Institute, Children s Hospital Medical Center, Boston, Massachusetts
    Nat Genet 4:77-81. 1993
    Transcription of the 2.5 megabase dystrophin gene gives rise to multiple isoforms. We describe a 5...
  14. ncbi De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases
    Monisha Mukherjee
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, India
    Exp Mol Med 35:113-7. 2003
    ..The loss of heterozygosity of polymorphic dinucleotide loci at "deletional hotspot" of dystrophin gene can provide direct evidence of carrier status in female relatives of affected DMD patients with overlapped ..
  15. ncbi Two distinct mutations in a single dystrophin gene: chance occurrence or premutation?
    N G Laing
    Australian Neuromuscular Research Institute, QEII Medical Centre, Nedlands, Western Australia
    Am J Med Genet 42:688-92. 1992
    We report on a kindred segregating 2 distinct mutations of a dystrophin gene...
  16. pmc Dystrophin is transcribed in brain from a distant upstream promoter
    F M Boyce
    Division of Genetics, Children s Hospital, Boston, MA 02115
    Proc Natl Acad Sci U S A 88:1276-80. 1991
    b>Dystrophin, the protein product of the Duchenne muscular dystrophy gene, is expressed in brain as well as muscle...
  17. ncbi Identification and characterization of the dystrophin anchoring site on beta-dystroglycan
    D Jung
    Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242, USA
    J Biol Chem 270:27305-10. 1995
    b>Dystrophin, the product of the Duchenne muscular dystrophy gene, is tightly associated with the sarcolemmal membrane to a large glycoprotein complex...
  18. pmc A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart
    F Muntoni
    Department of Paediatrics and Neonatal Medicine, Hammersmith Hospital, London, UK
    J Clin Invest 96:693-9. 1995
    We have previously shown in a large X-linked pedigree that a deletion removing the dystrophin muscle promoter, the first muscle exon and part of intron 1 caused a severe dilated cardiomyopathy with no associated muscle weakness...
  19. ncbi Dp140: a novel 140 kDa CNS transcript from the dystrophin locus
    H G Lidov
    Department of Pathology, Harvard Medical School, Boston, MA 02115, USA
    Hum Mol Genet 4:329-35. 1995
    We have identified a 7.5 kb transcript from the dystrophin locus which encodes a novel 140 kDa protein (Dp140)...
  20. pmc Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter
    H Nishio
    Department of Pediatrics, Kobe University School of Medicine, Japan
    J Clin Invest 94:1037-42. 1994
    The dystrophin gene, which is mutated in patients with Duchenne and Becker muscular dystrophies, is the largest known human gene. Five alternative promoters have been characterized until now...
  21. ncbi Expression and regulation of the dystrophin Purkinje promoter in human skeletal muscle, heart, and brain
    E Holder
    Cardiology Division, Temple Hoyne Buell Laboratories, University of Colorado Health Sciences Center, Denver, USA
    Hum Genet 97:232-9. 1996
    b>Dystrophin mRNA transcripts from the P (Purkinje) promoter were shown to be differentially expressed in human skeletal muscle, heart, and brain. The expression pattern was characteristic of tissue type and developmental stage...
  22. ncbi A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy
    J Milasin
    International Centre for Genetic Engineering and Biotechnology, Trieste, Italy
    Hum Mol Genet 5:73-9. 1996
    ..This condition has recently been linked to the dystrophin gene in some families and deletions encompassing the genomic region coding for the first muscle exon have been ..
  23. ncbi Dp140: alternatively spliced isoforms in brain and kidney
    H G Lidov
    Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA
    Genomics 45:132-9. 1997
    Dp140, a protein composed of the distal rod domain and carboxy-terminal domain of dystrophin, is expressed only in brain and kidney; transcription is initiated at a unique first exon located in dystrophin intron 44...
  24. ncbi Regulation of the cardiac L-type Ca2+ channel by the actin-binding proteins alpha-actinin and dystrophin
    Abbas Sadeghi
    Department of Physiology and Neurobiology, University of Connecticut, Storrs, Connecticut 06269
    Am J Physiol Cell Physiol 282:C1502-11. 2002
    The actin-binding proteins dystrophin and alpha-actinin are members of a family of actin-binding proteins that may link the cytoskeleton to membrane proteins such as ion channels...
  25. ncbi The 3'-untranslated region of the dystrophin gene - conservation and consequences of loss
    Marc J Greener
    Division of Medical and Molecular Genetics, GKT Medical School, Guy s Hospital, London, UK
    Eur J Hum Genet 10:413-20. 2002
    The 3'-untranslated region (3'UTR) of some vertebrate dystrophin genes shows an extraordinary degree and extent of conservation (better than that of many coding regions), a phenomenon that remains unexplained...
  26. ncbi Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy
    Annemieke Aartsma-Rus
    Department of Human Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    Neuromuscul Disord 12:S71-7. 2002
    ..dystrophy is primarily caused by frame-disrupting mutations in the Duchenne muscular dystrophy gene which abort dystrophin synthesis...
  27. ncbi Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy
    Sylvie Tuffery-Giraud
    Laboratoire de Genetique Moleculaire, CNRS UPR 1042, Institut Universitaire de Recherche Clinique and CHU, Montpellier, France
    Hum Mutat 21:608-14. 2003
    ..The detection of these residual full length transcripts is consistent with the clinical presentation and dystrophin analyses...
  28. ncbi Dystrophin and mutations: one gene, several proteins, multiple phenotypes
    Francesco Muntoni
    Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, London, UK
    Lancet Neurol 2:731-40. 2003
    A large and complex gene on the X chromosome encodes dystrophin. Many mutations have been described in this gene, most of which affect the expression of the muscle isoform, the best-known protein product of this locus...
  29. pmc Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations
    Xiaozhu Wang
    Peking University Center of Medical Genetics, Peking University, Beijing, China
    Behav Brain Funct 4:20. 2008
    DNA deletion and duplication were determined as the major mutation underlying Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD).
  30. doi Small mutations of the DMD gene in Taiwanese families
    Hsiao Lin Hwa
    Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan
    J Formos Med Assoc 107:463-9. 2008
    ..Duchenne/Becker muscular dystrophies are X-linked recessive disorders caused by mutations in the Duchenne muscular dystrophy (DMD) gene. We aimed to demonstrate the small mutation patterns of the DMD gene in Taiwanese subjects...
  31. pmc Stability of dystrophin STR fragments in relation to junction helicity
    Ahmed Mirza
    Department of Biological, Chemical and Physical Sciences, Illinois Institute of Technology, 3101 South Dearborn, Chicago, IL 60616, USA
    Biochim Biophys Acta 1784:1301-9. 2008
    b>Dystrophin is a rod shaped protein consisting of amino- and carboxy-terminal binding domains linked by a large central rod composed of 24 homologous copies of the STR motif and 4 non-homologous regions termed hinges...
  32. pmc A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
    Matteo Bovolenta
    Sezione di Genetica Medica, University of Ferrara, Italy
    BMC Genomics 9:572. 2008
    ..2 Mb DMD gene...
  33. pmc A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin
    Sébastien Legardinier
    UMR CNRS 6026 Interactions Cellulaires et Moléculaires, Equipe RMN et Interactions Lipides Protéines and UMR CNRS 6061 Génétique et Développement, Universite de Rennes 1, IFR 140, FacultédeMédecine, CS 34317, 35043 Rennes Cedex, France
    J Biol Chem 284:8822-32. 2009
    Lack of functional dystrophin causes severe Duchenne muscular dystrophy...
  34. doi Regional genomic instability predisposes to complex dystrophin gene rearrangements
    Junko Oshima
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
    Hum Genet 126:411-23. 2009
    Mutations in the dystrophin gene (DMD) cause Duchenne and Becker muscular dystrophies and the majority of cases are due to DMD gene rearrangements...
  35. doi Gene diagnosis for nine Chinese patients with DMD/BMD by multiplex ligation-dependent probe amplification and prenatal diagnosis for one of them
    Yupeng Wu
    Anhui Research Institute for Family Planning, Hefei, Anhui, China
    J Clin Lab Anal 23:380-6. 2009
    ..DMD-1, DMD-2, DMD-4, DMD-8, and DMD-9) with DMD/BMD were found to have several hemizygous exon deletions in the dystrophin gene. The other patients and the fetus did not have any hemizygous deletion or duplication of any exons...
  36. doi Exon edited dystrophin rods in the hinge 3 region
    Neha Sahni
    Division of Biology, Illinois Institute of Technology, Chicago IL, USA
    Biochim Biophys Acta 1824:1080-9. 2012
    ..of envisioned exon skipping therapy by antisense oligonucleotides, AONs, directed at exon 51 applied to relevant dystrophin defects causing Duchenne muscular dystrophy, DMD...
  37. pmc The N-terminal actin-binding tandem calponin-homology (CH) domain of dystrophin is in a closed conformation in solution and when bound to F-actin
    Surinder M Singh
    Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA
    Biophys J 103:1970-8. 2012
    Deficiency of the vital muscle protein dystrophin triggers Duchenne/Becker muscular dystrophy, but the structure-function relationship of dystrophin is poorly understood...
  38. ncbi Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability
    S V Hodgson
    Paediatric Research Unit, UMDS, Guy s Hospital, London, U K
    Neuromuscul Disord 2:269-76. 1992
    We report the results of screening for molecular deletions in 164 boys with DMD and BMD and correlation of deletions with clinical features...
  39. ncbi Point mutation in the human dystrophin gene: identification through western blot analysis
    D E Bulman
    Genetics Department, Hospital for Sick Children, Toronto, Ontario, Canada
    Genomics 10:457-60. 1991
    Using antibodies directed against the amino-terminus of dystrophin, we identified a truncated protein in a Duchenne muscular dystrophy patient...
  40. ncbi Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies
    J Chelly
    INSERM U129, Institut Cochin de Genetique Moleculaire, Paris, France
    Cell 63:1239-48. 1990
    Muscle dystrophin mRNAs from Duchenne (DMD) and Becker (BMD) patients with internal deletion of the DMD gene were quantitated and sequenced...
  41. pmc Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
    J S Chamberlain
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030
    Nucleic Acids Res 16:11141-56. 1988
    ..We demonstrate the application of this multiplex reaction for prenatal and postnatal diagnosis of DMD...
  42. ncbi Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    M Koenig
    Cell 50:509-17. 1987
    ..The majority of deletions are concentrated in a single genomic segment corresponding to only 2 kb of the transcript...
  43. ncbi Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation
    S Tuffery
    Laboratoire de Biochimie Genetique, INSERM U249 CNRS UPR 9008, Institut de Biologie, Montpellier, France
    Hum Mutat 6:126-35. 1995
    ..of the mutations responsible for Duchenne muscular dytrophy (DMD) do not involve gross rearrangements of the dystrophin gene...
  44. ncbi A novel dystrophin isoform is required for normal retinal electrophysiology
    V N D'Souza
    Department of Genetics and Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
    Hum Mol Genet 4:837-42. 1995
    b>Dystrophin is present in the outer plexiform layer of the retina and is required for normal retinal function as measured by electroretinography...
  45. pmc Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy
    F Muntoni
    Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital, London, United Kingdom
    Am J Hum Genet 56:151-7. 1995
    We recently described a family where a deletion of the dystrophin gene was associated with a severe dilated cardiomyopathy without skeletal muscle weakness...
  46. pmc Syntrophin binds to an alternatively spliced exon of dystrophin
    A H Ahn
    Program in Neuroscience, Harvard Medical School, Boston, Massachusetts 02115
    J Cell Biol 128:363-71. 1995
    b>Dystrophin, the protein product of the Duchenne muscular dystrophy locus, is a protein of the membrane cytoskeleton that associates with a complex of integral and membrane-associated proteins...
  47. ncbi Novel small mutations along the DMD/BMD gene associated with different phenotypes
    V Nigro
    Istituto di Patologia Generale ed Oncologia, Facolta di Medicina, II Universita di Napoli, Italy
    Hum Mol Genet 3:1907-8. 1994
  48. ncbi Identification of alpha-syntrophin binding to syntrophin triplet, dystrophin, and utrophin
    B Yang
    Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242
    J Biol Chem 270:4975-8. 1995
    Syntrophin represents three cytoplasmic components of the dystrophin-glycoprotein complex that links the cytoskeleton to the extracellular matrix in skeletal muscle...
  49. ncbi Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations
    R G Roberts
    Paediatric Research Unit, Guy s Hospital, London, England
    Hum Mutat 4:1-11. 1994
    The past few years have seen a rapid increase in our knowledge of naturally occurring mutations in the dystrophin gene...
  50. ncbi Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family
    S D Wilton
    Australian Neuromuscular Research Institute, QE II Medical Centre, Nedlands
    Hum Mutat 3:133-40. 1994
    ..4 Mb) dystrophin gene at Xp21...
  51. ncbi Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy
    F Muntoni
    Istituto di Neuropsichiatria Infantile, Cagliari, Italy
    N Engl J Med 329:921-5. 1993
  52. ncbi A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient
    T W Prior
    Department of Pathology, Ohio State University, Columbus 43210
    Nat Genet 4:357-60. 1993
    ..We now describe what we believe to be the first dystrophin missense mutation in a DMD patient...
  53. ncbi Cloning and characterization of alternatively spliced isoforms of Dp71
    R C Austin
    Department of Pathology, McMaster University, Hamilton, Ontario, Canada
    Hum Mol Genet 4:1475-83. 1995
    Dp71, a C-terminal isoform of dystrophin, has been identified as the major DMD gene product in many nonmuscle tissues...
  54. ncbi Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy
    R Ortiz-Lopez
    Department of Pediatrics, Baylor College of Medicine, Houston, Tex 77030, USA
    Circulation 95:2434-40. 1997
    X-linked dilated cardiomyopathy (XLCM) has previously been shown to be due to mutations in the dystrophin gene, which is located at Xp21...
  55. ncbi beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations
    M F Peters
    Department of Physiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599 7545, USA
    J Biol Chem 272:31561-9. 1997
    b>Dystrophin, the protein disrupted in Duchenne muscular dystrophy, is one of several related proteins that are key components of the submembrane cytoskeleton...
  56. pmc Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy
    N Shiga
    Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, Japan
    J Clin Invest 100:2204-10. 1997
    ..mutation (E1211X) due to a G to T transversion at the 28th nucleotide of exon 27 (G3839T) was identified in the dystrophin gene of a Japanese Becker muscular dystrophy case...
  57. ncbi Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins
    S H Gee
    Department of Physiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599 7545, USA
    J Neurosci 18:128-37. 1998
    Syntrophins are cytoplasmic peripheral membrane proteins of the dystrophin-associated protein complex (DAPC). Three syntrophin isoforms, alpha1, beta1, and beta2, are encoded by distinct genes...
  58. pmc beta-dystrobrevin, a member of the dystrophin-related protein family
    D J Blake
    Genetics Unit, Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, United Kingdom
    Proc Natl Acad Sci U S A 95:241-6. 1998
    The importance of dystrophin and its associated proteins in normal muscle function is now well established. Many of these proteins are expressed in nonmuscle tissues, particularly the brain...
  59. pmc A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy
    A Ferlini
    Department of Paediatrics and Neonatal Medicine, Imperial College School of Medicine, London W12 ONN, United Kingdom
    Am J Hum Genet 63:436-46. 1998
    ..and characterized a genomic sequence with some features typical of Alu-like mobile elements rearranged into the dystrophin gene in a family affected by X-linked dilated cardiomyopathy. The Alu-like sequence rearrangement occurred 2...
  60. pmc Different dystrophin-like complexes are expressed in neurons and glia
    D J Blake
    Department of Human Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, United Kingdom
    J Cell Biol 147:645-58. 1999
    ..Accordingly, dystrophin is found at the muscle sarcolemma and at postsynaptic sites in neurons...
  61. ncbi Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA)
    S Eraslan
    Division of Molecular Genetics, Diizen Laboratories, Istanbul Turkey
    Eur J Hum Genet 7:765-70. 1999
    ..The identification of point mutations in the dystrophin gene is considered to be very important, because it may provide new insights into the function of dystrophin and ..
  62. ncbi Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells
    G Piluso
    Istituto di Patologia Generale ed Oncologia, Facolta di Medicina, Seconda Universita degli Studi di Napoli, 80138 Napoli, Italy
    J Biol Chem 275:15851-60. 2000
    b>Dystrophin is the scaffold of a protein complex, disrupted in inherited muscular dystrophies. At the last 3' terminus of the gene, a protein domain is encoded, where syntrophins are tightly bound...
  63. ncbi The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy
    F L Norwood
    Structural Studies Division, Medical Research Council Laboratory of Molecular Biology, Cambridge, CB2 2QH, UK
    Structure 8:481-91. 2000
    b>Dystrophin is an essential component of skeletal muscle cells. Its N-terminal domain binds to F-actin and its C terminus binds to the dystrophin-associated glycoprotein (DAG) complex in the membrane...
  64. ncbi Structure of a WW domain containing fragment of dystrophin in complex with beta-dystroglycan
    X Huang
    Department of Cancer Biology, Dana Farber Cancer Institute, 44 Binney Street, Boston, Massachusetts 02115, USA
    Nat Struct Biol 7:634-8. 2000
    b>Dystrophin and beta-dystroglycan are components of the dystrophin-glycoprotein complex (DGC), a multimolecular assembly that spans the cell membrane and links the actin cytoskeleton to the extracellular basal lamina...
  65. ncbi Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family
    I B Ginjaar
    Department of Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
    Eur J Hum Genet 8:793-6. 2000
    ..In the muscle biopsy specimen of patient2 one out of four antibodies (NCL-DYS1) showed absence of dystrophin. The protein truncation test detected a truncated dystrophin for both muscle tissue and lymphocytes of this ..
  66. ncbi Interaction of gamma 1-syntrophin with diacylglycerol kinase-zeta. Regulation of nuclear localization by PDZ interactions
    A Hogan
    Department of Cellular and Molecular Medicine, Center for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario K1H 8M5, Canada
    J Biol Chem 276:26526-33. 2001
    Syntrophins are modular adapter proteins that link ion channels and signaling proteins to dystrophin and its homologues...
  67. pmc In vivo requirement of the alpha-syntrophin PDZ domain for the sarcolemmal localization of nNOS and aquaporin-4
    M E Adams
    Department of Physiology and Biophysics, University of Washington, Seattle, WA 98195, USA
    J Cell Biol 155:113-22. 2001
    ..The COOH-terminal half of alpha-syntrophin binds to dystrophin and related proteins, leaving the PSD-95, discs-large, ZO-1 (PDZ) domain free to recruit other proteins to the ..
  68. pmc Comparative analysis of the human dystrophin and utrophin gene structures
    Uberto Pozzoli
    IRCCS E Medea, Associazione La Nostra Famiglia, 23842 Bosisio Parini, LC, Italy
    Genetics 160:793-8. 2002
    ..Out-of-frame rod-domain exons have stronger splice sites and are separated by significantly longer introns as compared to in-frame exons. These features are unique for the two homologs and not shared by other spectrin superfamily genes...
  69. ncbi Function and genetics of dystrophin and dystrophin-related proteins in muscle
    Derek J Blake
    Medical Research Council, Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, Oxford, United Kingdom
    Physiol Rev 82:291-329. 2002
    The X-linked muscle-wasting disease Duchenne muscular dystrophy is caused by mutations in the gene encoding dystrophin. There is currently no effective treatment for the disease; however, the complex molecular pathology of this disorder ..
  70. ncbi Identification of Dp71 isoforms in the platelet membrane cytoskeleton. Potential role in thrombin-mediated platelet adhesion
    Richard C Austin
    Department of Pathology, McMaster University and the Henderson Research Centre, Hamilton, Ontario L8V 1C3, Canada
    J Biol Chem 277:47106-13. 2002
    ..F., Zuerbig, S., and Fox, J. E. B. (1995) J. Biol. Chem. 270, 27259-27265). Although platelets do not contain dystrophin, the identification of smaller C-terminal isoforms of dystrophin, including Dp71, which are expressed in a wide ..
  71. ncbi Comparative study on deletions of the dystrophin gene in three Asian populations
    Poh San Lai
    Division of Human Genetics, Department of Paediatrics, National University of Singapore, Singapore
    J Hum Genet 47:552-5. 2002
    ..of deletions of 19 deletion-prone exons clustered in two hot spots in the proximal and central regions of the dystrophin gene were compared in three populations from Singaporean, Japan, and Vietnam...
  72. ncbi The milder phenotype of the dystrophin gene double deletions
    A A El-Harouni
    Human Genetics Department, National Research Center, Cairo, Egypt
    Acta Neurol Scand 107:400-4. 2003
    ..This study aimed to examine the genotypephenotype correlation in Duchenne muscular dystrophy (MD) patients with double deletion (Ddel) mutations in comparison with those having single deletions (Sdel)...
  73. ncbi MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls
    B Janssen
    Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120, Heidelberg, Germany
    Neurogenetics 6:29-35. 2005
    ..and Becker muscular dystrophy (BMD) are common X-chromosomal recessive disorders caused by mutations in the dystrophin gene...
  74. ncbi A novel cryptic exon identified in the 3' region of intron 2 of the human dystrophin gene
    Van Khanh Tran
    Department of Pediatrics, Kobe University Graduate School of Medicine, 7 5 1 Kusunokicho, Chuo, Kobe 650 0017, Japan
    J Hum Genet 50:425-33. 2005
    The dystrophin gene, which is mutated in Duchenne muscular dystrophy (DMD), is the largest known human gene and is characterized by the huge size of its introns...
  75. ncbi Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy
    Edo M Hoogerwaard
    Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands
    Neurology 65:1984-6. 2005
    Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne (DMD) and Becker muscular dystrophy (BMD) were investigated...
  76. ncbi Role of dystrophin and utrophin for assembly and function of the dystrophin glycoprotein complex in non-muscle tissue
    T Haenggi
    Institute of Pharmacology and Toxicology, University of Zurich, Winterthurerstrasse 190, 8057, Zurich, Switzerland
    Cell Mol Life Sci 63:1614-31. 2006
    The dystrophin glycoprotein complex (DGC) is a multimeric protein assembly associated with either the X-linked cytoskeletal protein dystrophin or its autosomal homologue utrophin...
  77. ncbi Interactions of intermediate filament protein synemin with dystrophin and utrophin
    Rahul C Bhosle
    Muscle Biology Group, Department of Biochemistry, Iowa State University, Ames, IA 50011 3260, USA
    Biochem Biophys Res Commun 346:768-77. 2006
    ..We show herein that tissue-purified avian synemin directly interacts with both dystrophin and utrophin, and that specific expressed regions of both of the mammalian (human) synemin isoforms (alpha-..
  78. ncbi Duplications in the DMD gene
    S J White
    Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Hum Mutat 27:938-45. 2006
    The detection of duplications in Duchenne (DMD)/Becker Muscular Dystrophy (BMD) has long been a neglected issue. However, recent technological advancements have significantly simplified screening for such rearrangements...
  79. pmc Dystrophin Dp71f associates with the beta1-integrin adhesion complex to modulate PC12 cell adhesion
    Joel Cerna
    Departmento de Genetica y Biologia Molecular, Centro de Investigación y de Estudios Avanzados del I P N, Av Instituto Politecnico Nacional 2508, Col San Pedro Zacatenco, Mexico, D F 07360, Mexico
    J Mol Biol 362:954-65. 2006
    b>Dystrophin Dp71 is the main product of the Duchenne muscular dystrophy gene in the brain; however, its function is unknown...
  80. ncbi Digital karyotyping reveals frequent inactivation of the dystrophin/DMD gene in malignant melanoma
    Henrike Körner
    Molecular Oncology, Independent Max Planck Research Group, Max Planck Institute of Biochemistry, Martinsried, Germany
    Cell Cycle 6:189-98. 2007
    ..Thereby, we identified a somatic, homozygous deletion of 570 kbp removing exons 3-29 of the dystrophin (DMD, Duchenne muscular dystrophy) gene...
  81. pmc Red-green color vision impairment in Duchenne muscular dystrophy
    Marcelo Fernandes Costa
    Departamento Psicologia Experimental, Universidade de Sao Paulo, Sao Paulo, Brazil
    Am J Hum Genet 80:1064-75. 2007
    ..Patients were divided into two groups according to the region of deletion in the dystrophin gene: upstream of exon 30 (n=12) and downstream of exon 30 (n=32)...
  82. ncbi Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human
    Marcella Neri
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
    Neuromuscul Disord 17:913-8. 2007
    Mutations in the dystrophin gene give rise to Duchenne and Becker muscular dystrophies (DMD and BMD), in which both skeletal and cardiac muscles are affected, but also to X-linked dilated cardiomyopathy (XLDC), a condition characterised ..
  83. ncbi 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
    ..diseases Duchenne (DMD) and Becker muscular dystrophy result from mutations in the DMD gene, which encodes the dystrophin protein...
  84. doi Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization
    Daniela del Gaudio
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 29:1100-7. 2008
    ..and X-linked dilated cardiomyopathy, are X-linked recessive neuromuscular disorders caused by mutations in the dystrophin gene (DMD)...
  85. doi Transcriptional behavior of DMD gene duplications in DMD/BMD males
    F Gualandi
    Dipartimento di Medicina Sperimentale e Diagnostica, Sezione di Genetica Medica, Universita di Ferrara, Italia
    Hum Mutat 30:E310-9. 2009
    DMD gene exons duplications account for up to 5-10 % of Duchenne (DMD) and up to 5-19% of Becker (BMD) muscular dystrophies; as for the more common deletions, the genotype-phenotype correlation and the genetic prognosis are generally ..
  86. 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
    ..within the first exon of the DMD gene, encoding the unique N-terminus of the 427-kDa muscle isoform of the dystrophin protein...
  87. doi Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression
    Fatma Daoud
    Institut Cochin, Universite Paris Descartes, INSERM, CNRS UMR, France
    Hum Mol Genet 18:3779-94. 2009
    ..muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) bearing mutations predicted to affect either all dystrophin products, including Dp71 or all dystrophin products, except Dp71...
  88. 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.
  89. 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
    Mutations in the DMD gene, encoding the dystrophin protein, are responsible for the dystrophinopathies Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and X-linked Dilated Cardiomyopathy (XLDC)...
  90. pmc Mice lacking dystrophin or alpha sarcoglycan spontaneously develop embryonal rhabdomyosarcoma with cancer-associated p53 mutations and alternatively spliced or mutant Mdm2 transcripts
    Karen Fernandez
    Division of Hematology Oncology, Nationwide Children s Hospital, Columbus, Ohio 43205, USA
    Am J Pathol 176:416-34. 2010
    Altered expression of proteins in the dystrophin-associated glycoprotein complex results in muscular dystrophy and has more recently been implicated in a number of forms of cancer...
  91. pmc Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy
    Rita Wen Kaspar
    Center for Gene Therapy, The Research Institute at Nationwide Children s Hospital College of Nursing, The Ohio State University, Columbus, Ohio, USA
    Circ Cardiovasc Genet 2:544-51. 2009
    Becker muscular dystrophy (BMD) and X-linked dilated cardiomyopathy often result from deletion mutations in the dystrophin gene that may lead to expression of an altered dystrophin protein in cardiac muscle...
  92. doi Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
    Yasuhiro Takeshima
    Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan
    J Hum Genet 55:379-88. 2010
    ..Remarkably, two retrotransposon insertion events were also identified. Dystrophin cDNA analysis successfully revealed novel transcripts with a pseudoexon created by a single-nucleotide change ..
  93. 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...
  94. pmc Missense mutations in dystrophin that trigger muscular dystrophy decrease protein stability and lead to cross-beta aggregates
    Surinder M Singh
    Department of Pharmaceutical Sciences, Center for Pharmaceutical Biotechnology, School of Pharmacy, Aurora, CO 80045, USA
    Proc Natl Acad Sci U S A 107:15069-74. 2010
    A deficiency of functional dystrophin protein in muscle cells causes muscular dystrophy (MD). More than 50% of missense mutations that trigger the disease occur in the N-terminal actin binding domain (N-ABD or ABD1)...
  95. pmc Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene
    Arunkanth Ankala
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genome Res 22:25-34. 2012
    ....
  96. doi Dystrophin Dp71: the smallest but multifunctional product of the Duchenne muscular dystrophy gene
    Ramin Tadayoni
    Ophthalmology Department, Hopital Lariboisiere, AP HP, Universite Paris Diderot, Paris, France
    Mol Neurobiol 45:43-60. 2012
    b>Dystrophin Dp71 is expressed in all tissues, with the exception of skeletal muscle, and is the main Duchenne muscular dystrophy (DMD) gene product in brain...
  97. pmc Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy
    Gyula Acsadi
    Connecticut Children s Medical Center, Hartford, Connecticut 06106, USA
    J Biol Chem 287:18153-62. 2012
    Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish...
  98. doi Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne/Becker muscular dystrophy patients
    Van Khanh Tran
    Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam
    J Neurogenet 27:170-5. 2013
    ..Becker muscular dystrophies (DMD/BMD) are the most common inherited muscle diseases caused by mutations in the dystrophin gene. The reading frame rule explains the genotype-phenotype relationship in DMD/BMD...
  99. ncbi [A two-year-old clinically manifesting carrier of Duchenne muscular dystrophy]
    T Yamamoto
    Division of Child Neurology, Tottori University School of Medicine, Yonago
    No To Hattatsu 23:384-8. 1991
    A two-year-old symptomatic carrier of Duchenne muscular dystrophy (DMD) confirmed by dystrophin immunohistochemical study was reported. She had mild proximal muscular weakness and elevated serum creatine kinase (CK) level...
  100. ncbi [A case of severe Becker muscular dystrophy diagnosed in early childhood--correlation between clinical severity and dystrophin testing]
    Y Ishikawa
    Department of Pediatrics, National Sanatorium Yakumo Hospital, Hokkaido
    No To Hattatsu 27:53-7. 1995
    Since the 14kb human Duchenne muscular dystrophy (DMD) cDNA was cloned and its protein product "dystrophin" was discovered, immunochemical, biochemical and genetic analyses of dystrophin (dystrophin testing) have provided an accurate ..
  101. ncbi [Clinical significance of dystrophin test for patients with various neuromuscular diseases--immunofluorescence and immunoblot analyses of dystrophin abnormalities]
    K Ikeya
    Department of Pediatrics, Tokyo Women's Medical College
    No To Hattatsu 25:328-34. 1993
    The dystrophin test was performed on skeletal muscle specimens from 81 cases with various neuromuscular diseases by using two new monoclonal antibodies. The results were compared with those obtained by using four polyclonal antibodies...

Research Grants78

  1. Salivary-based Bone-loss Marker Detection Platform for Point-of-Care Screening
    MANAL BESHAY; Fiscal Year: 2012
    ..Currently, the most reliable methods for bone mineral density (BMD) measurements are imaging techniques such as dual photon absorptiometry (DPA), quantitative computed tomography (..
  2. Epidemiologic Study of Bone Marrow Fat and Osteoporosis
    Jane Cauley; Fiscal Year: 2010
    ..knowledge, only a handful of studies have directly examined the connection between BMF and bone mineral density (BMD), and these studies have largely focused on Chinese men and women...
  3. Todd T Brown; Fiscal Year: 2014
    ..in HIV-infected patients have relied on dual- energy x-ray absorptiometry (DXA) to evaluate bone mineral density (BMD). Although clinically useful, BMD accounts for only about 50% of fracture risk...
  4. Early effects of PTH on the proximal femur
    Felicia Cosman; Fiscal Year: 2013
    ..Teriparatide (TPTD), the aminoterminal fragment of parathyroid hormone, increases BMD and bone strength and reduces fracture incidence throughout the skeleton, but data confirming specific efficacy ..
  5. Roger Bedimo; Fiscal Year: 2015
    ..For a given decrease in bone mineral density (BMD), the fracture risk increases dramatically with age in the general population...
  6. Clinical Validation of BCT - Phase II
    DAVID KOPPERDAHL; Fiscal Year: 2010
    ..Due to limitations in areal BMD measures obtained from 2D DXA scans - the current clinical standard for diagnosis of osteoporosis - it has recently ..
  7. Targeted Sequencing of 3 Loci Associated with BMD in the Framingham Osteoporosis
    Douglas P Kiel; Fiscal Year: 2012
    ..we have performed genome-wide association meta-analyses on bone phenotypes including bone mineral density (BMD) and osteoporotic fractures in adult Caucasian subjects1 Although more than 30 loci reached genome-wide ..
  8. Osteoporosis and Bone Augmentation/Implant Outcomes: An Observational Study
    Martin A Freilich; Fiscal Year: 2010
    ..estimating alveolar bone augmentation/implant placement success in postmenopausal women with bone mineral density (BMD) ranging from normal to osteoporotic...
  9. Anjali Sharma; Fiscal Year: 2016
    ..While there is evidence that increased marrow fat, like low bone mineral density (BMD), predicts vertebral fracture in the elderly, and data suggest a relationship between increased marrow adiposity ..
  10. Felix W Wehrli; Fiscal Year: 2014
    ..that structural measures of bone quality are more strongly associated with osteoporotic fractures than areal BMD and that these structural measures are sensitive indicators of drug intervention efficacy in patients with impaired ..
  11. Genome Wide Association Study of Bone Mineral Accretion During Childhood
    Babette S Zemel; Fiscal Year: 2013
    ..Most of what is known about childhood bone health is based on measures of bone mineral content (BMC) or density (BMD)...
  12. A Study of Reduced Bone Quality as a Cause of Fractures
    Robert Roy Recker; Fiscal Year: 2012
    ..Controls will include 60 post-menopausal women with similar BMD and age who are not fracturing, do not have a history of low-trauma fracture and are healthy...
  13. Jonathan Kaufman; Fiscal Year: 2016
    ..device which in conjunction with CyberLogic's NTD technology to accurately and reproducibly estimate BMD at the calcaneus...
  14. IMPACT OF A PROTEIN SUPPLEMENT ON BONE MASS IN OLDER WOMEN
    KARL LEONARD INSOGNA; Fiscal Year: 2010
    ..Secondary outcomes will include BMD at the spine and hip measured by QCT, serum measures of mineral homeostasis and bone turnover, and an assessment of ..
  15. Clinical Implications of Serotonin in Bone
    Elizabeth M Haney; Fiscal Year: 2010
    ..and increase fracture risk in patients with depression as compared with those without depression suggest that BMD and depression are related...
  16. Catherine M Gordon; Fiscal Year: 2015
    ..investigate this question through a novel clinical trial of combined therapy with DHEA+ERT on bone mineral density (BMD) and bone marrow composition, examining the role of hormonal factors in the conversion of red to yellow marrow and ..
  17. Multi-view, Photon Counting DXA Scanner for Quantitative Musculoskeletal Imaging
    Thomas J Beck; Fiscal Year: 2011
    ..However DXA scanners are designed to measure bone mineral density (BMD) and not structural geometry...
  18. Sogol Mostoufi-Moab; Fiscal Year: 2016
    ..The applicant recently published the first comprehensive studies of trabecular bone mineral density (BMD), cortical structure, and body composition in 55 long-term survivors of childhood HSCT...
  19. Effect of Chronic Proton Pump Inhibitor Therapy on Bone Mineral Density and Bone
    Yu Xiao Yang; Fiscal Year: 2013
    ..both calcium malabsorption and vitamin B12 deficiency are associated with reduced bone mineral density (BMD) and increased osteoporotic fracture risk...
  20. Pamela U Freda; Fiscal Year: 2014
    ..Fractures are increased in acromegaly, but bone mineral density (BMD) is not reduced...
  21. The Effects of Iron Status on FGF23 Metabolism and Bone Health.
    Michael J Econs; Fiscal Year: 2012
    ..Iron deficiency has been reported to decrease BMD in animal models and in vitro studies have demonstrated that iron deficiency affects osteoblast function...
  22. Chris Newman; Fiscal Year: 2016
    ..In patients with age-related bone loss, bone mineral density (BMD) estimates are a helpful predictor of fracture development. In CKD, however, the picture is unclear...
  23. The Effects of CFTR Dysfunction on Bone Formation
    Marie E Egan; Fiscal Year: 2012
    ..By clarifying the exact nature and evolution of the low BMD, and elucidating whether there is a primary defect in bone cell activity, more evidence-based intervention trials ..
  24. Dietary and serum phytoestrogens and women's health conditions in midlife
    Gail A Greendale; Fiscal Year: 2012
    ..dietary &serum measures of phytoestrogens and phytoestrogen metabolites and 4 outcomes: bone mineral density (BMD), vasomotor symptoms (VMS), urinary incontinence (UI) and cognitive performance...
  25. CHANGES IN SKELETAL MICROARCHITECTURE FOLLOWING RENAL TRANSPLANTATION
    MARY BETH LEONARD; Fiscal Year: 2011
    ..of studies of changes in bone mass following transplantation relied on DXA estimates of bone mineral density (BMD);however, DXA BMD does not distinguish between opposing disease effects on trabecular and cortical bone and does ..
  26. Long-term impact of primary hyperparathyroidism on bone density in the elderly
    Michael W Yeh; Fiscal Year: 2012
    ..Limited data are available regarding the long-term effect of PHPT on bone mineral density (BMD)...
  27. Peter J Snyder; Fiscal Year: 2015
    ..and strength-to-density ratio in the spine and hip by finite element analysis determined from the QCT data;areal BMD of the lumbar spine, proximal hip and distal radius by DXA;serum markers of bone turnover;and clinical fractures...
  28. Michael T Yin; Fiscal Year: 2016
    ..applicant): While skeletal abnormalities, including decreased bone mineral content (BMC) and bone mineral density (BMD), are well described among HIV-infected children and adolescents in highly developed nations, no studies have been ..
  29. Elise F Morgan; Fiscal Year: 2016
    ..Average measures of bone mineral density (BMD) explain only 50-70% of the variance in vertebral strength, a result that is not surprising given the heterogeneous ..
  30. Mary L Bouxsein; Fiscal Year: 2016
    ..There is strong evidence that factors other than low bone mineral density (BMD) influence VF risk. Yet, the biomechanical factors that contribute to fractures are poorly understood...
  31. BONE DENSITY IN CHILDHOOD STUDY - CLINICAL CENTER
    Margaret M Frederick; Fiscal Year: 2009
    ..These data will serve as an extremely valuable standard pediatric BMD database...
  32. BONE DENSITY IN CHILDHOOD - CLINICAL CENTER
    Vincente Gilsanz; Fiscal Year: 2010
    ..These data will serve as an extremely valuable standard pediatric BMD database...
  33. A Novel Long-Lived 41Ca Marker To Assess Bone Turnover For Breast Cancer Patients
    Susanta Hui; Fiscal Year: 2009
    ..The currently much-used method of monitoring bone mineral density (BMD) is neither sensitive to small changes in bone density, nor suitable for frequent assesments of bone density...
  34. Clinical Validation of BCT
    DAVID KOPPERDAHL; Fiscal Year: 2007
    ..Due to limitations in areal BMD measures obtained from 2D DXA scans - which is the current clinical standard for diagnosis of osteoporosis - it has ..
  35. PROSPECTIVE STUDY OF OSTEOPOROSIS & RISK FACTORS IN JRA
    C Rabinovich; Fiscal Year: 2000
    ..derived from the course of skeletal development obtained through sequential measurements of bone mineral density (BMD)...
  36. GENETIC AND DYNAMIC ANALYSES OF PEAK BONE DENSITY IN MICE
    Leah Rae Donahue; Fiscal Year: 2009
    ..and determine cellular actions of genes on mouse Chromosomes (Chr) 1 and 4 that regulate bone mineral density (BMD)...
  37. Marian T Hannan; Fiscal Year: 2015
    ..The most common tool for diagnosis of osteoporosis and prediction of fracture risk is bone mineral density (BMD) measured by dual- energy X-ray absorptiometry...
  38. Adi Cohen; Fiscal Year: 2015
    ..levels did not respond to teriparatide (TPTD), an osteo-anabolic medication that increases bone mineral density (BMD) by stimulating bone formation via IGF-1-dependant mechanisms...
  39. ANNE LOUISE SCHAFER; Fiscal Year: 2015
    ..bypass can have negative effects on the skeleton, increasing bone turnover and decreasing bone mineral density (BMD). This is of critical concern given the tremendous impact of osteoporosis and fracture in both men and women...
  40. Genetic Determinants of Physiological Responses to Fluoride in Bone
    Eric T Everett; Fiscal Year: 2012
    ..Additionally, selected bones will be phenotyped for BMD (microCT). A genome scan with an average SNP density of 3 Mb across the autosomes and 7 Mb across Chr...
  41. Ginger Extracts in the Prevention of Metabolic Bone Disease
    LAURA ELIZABETH WRIGHT; Fiscal Year: 2011
    ..Endpoints of analysis include bone mineral density (BMD) by dual energy x-ray absorptometry (DXA), serum markers for bone turnover, bone histomorphometry, changes in ..
  42. Douglas P Kiel; Fiscal Year: 2016
    ..We will measure volumetric BMD, bone microarchitecture and bone strength at the distal radius and distal tibia using three-dimensional HR-pQCT in ..
  43. Imaging evidence: Is there competition between marrow fat and bone?
    Wei Shen; Fiscal Year: 2010
    ..shown that there is an inverse relationship between bone marrow adipose tissue (BMAT) and bone mineral density (BMD)...
  44. Ultra-high Resolution pQCT as a Biomarker of Bone Strength in Osteoporosis Trials
    ELIZABETH J SHANE; Fiscal Year: 2010
    ..Measurement of bone mineral density (BMD) by dual energy x-ray absorptiometry (DXA) has important limitations in diagnosis of osteoporosis, prediction of ..
  45. Chronic Kidney Disease and PTH: Effects on the Postmenopausal Skeleton
    EMILY MARGARET STEIN; Fiscal Year: 2013
    ..We will use a cross-sectional, in-depth analysis of bone mineral density (BMD), microarchitecture, calciotropic hormones and biochemical markers of remodeling in women, with and without stage 3 ..
  46. Jiang Du; Fiscal Year: 2014
    ..Routine clinical evaluation of osteoporosis (OP) has been limited to the assessment of bone mineral density (BMD) using dual energy X-ray absorptiometry (DEXA) and/or CT...
  47. Fredric D Wolinsky; Fiscal Year: 2014
    DESCRIPTION (provided by applicant): Bone mineral density (BMD) peaks in early adulthood and declines progressively with aging...
  48. Modeling fracture prediction in spinal cord injury and disease
    Laura D Carbone; Fiscal Year: 2013
    ..Tools which incorporate clinical factors and bone mineral density (BMD) measurements to estimate fracture risk have recently been developed for persons without SCI/D...
  49. PHILIP MAGNUS GRANT; Fiscal Year: 2016
    ..will help define the underlying causes and appropriate clinical management of ART-associated bone mineral density (BMD) loss in HIV...
  50. Enhancing Bone Quality Assessment Using Quantitative Ultrasound
    JAMES GEGAN MILLER; Fiscal Year: 2012
    ..treatment is Dual Energy X-ray Absorptiometry (DEXA), which provides a measure of bone mineral density (BMD)...
  51. Todd Anthony Astorino; Fiscal Year: 2014
    ..Consequently, the primary aim of this study is to examine changes in bone mineral density (BMD), bone health, body composition, and quality of life in response to a rigorous, multi-modal training program ..
  52. Repair of large osteoporotic rat calvarial defects with autologous adipose stem c
    Ming Pei; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Osteoporosis contributes to decreased bone mass and bone mineral density (BMD) as well as compromised fracture healing rates and bone repair quality...
  53. Tensor Scale-based Methods for Assessment of Trabecular Bone Quality
    PUNAM KUMAR SAHA; Fiscal Year: 2012
    ..Bone's mechanical competence can only be partly explained by variations in bone mineral density (BMD), which led to the notion of bone quality, chief among which is architecture as a determinant of TB strength...
  54. Identification of Proteins Important for Male Osteoporosis
    Hong Wen Deng; Fiscal Year: 2013
    ..Male Osteoporosis Osteoporosis is a major public health problem, mainly characterized by low bone mineral density (BMD). Variation of BMD is largely genetically determined (heritability of >60%)...
  55. MERYL SUSAN LEBOFF; Fiscal Year: 2016
    ..data support a positive relationship between 25-hydroxyvitamin D [25(OH) D] levels and bone mineral density (BMD)...
  56. Novel Drug VS-105 for Treatment of Osteoporosis
    Jinshyun Ruth Wu-Wong; Fiscal Year: 2013
    ..better efficacy than calcitriol in stimulating anabolic bone formation and also in increasing bone mineral density (BMD) with less hypercalcemic side effects...
  57. Underserved Men's Understanding of Androgen Deprivation Therapy Related Risks
    Sally L Maliski; Fiscal Year: 2012
    ..symptoms, depression, fatigue, diminished health-related quality of life (HRQOL), decreased bone mineral density (BMD), sexual dysfunction, metabolic syndrome, increased fat mass, along with decreased lean muscle mass, increased ..
  58. Establishing the Precursors of Osteoporosis in Children
    Xiping Xu; Fiscal Year: 2010
    ..bone mass as measured by DEXA, including bone mineral content (BMC), bone area (BA) and bone mineral density (BMD) in relation to a wide range of putative precursors of osteoporosis...
  59. John L Fowlkes; Fiscal Year: 2015
    ..mellitus (T1D) is associated with several disorders of skeletal health, including decreased bone mineral density (BMD) and an increased risk for osteoporosis and fragility fracture...
  60. Role of Darc-Chemokine Interaction in the Trafficking of Osteoclast Precursors
    Bouchra Edderkaoui; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Osteoporosis is a disease characterized by low bone mineral density (BMD), the strongest predictor of fracture risk...
  61. Joseph M Zmuda; Fiscal Year: 2014
    ..to continue our Tobago Bone Health Study (R01-AR049747), a unique population-based study of bone mineral density (BMD) in 2,424 black men aged e40 years...
  62. Adele L Boskey; Fiscal Year: 2016
    ..While reduced bone mineral density (BMD) relative to young individuals is routinely used clinically to predict fracture risk, BMD is not a strong predictor,..
  63. Joint Determinants of Bone Density and CVD Calcification
    Braxton Mitchell; Fiscal Year: 2004
    ..Recent studies document that bone mineral density (BMD) is inversely correlated with severity of aortic and coronary artery calcification, markers of atherosclerosis...
  64. Infant Screening and Diagnosis of Duchenne Muscular Dys*
    Paul Fernhoff; Fiscal Year: 2007
    ..probe amplification (MLPA) techniques to detect deletions and duplications in all 79 exons of the dystrophin gene...
  65. Depo-provera & BMD: Continuing Observations
    M Clark; Fiscal Year: 2005
    ..The ongoing parent study is longitudinal, comparing changes in bone mineral density (BMD) every 3 months for 24 months between women newly initiating DMPA for contraception and women using no hormonal ..
  66. DEPO PROVERA AND BONE MINERAL DENSITY IN ADOLESCENTS
    Barbara Cromer; Fiscal Year: 2003
    ..Recent research in adults has suggested a negative effect of DMPA on bone mineral density (BMD)...
  67. Role of murine induced pluripotent stem cells on the correction of cardiac and sk
    Diego Fraidenraich; Fiscal Year: 2010
    ..Rather than factor secretion, the main mechanism of the rescue in this case is spreading of ES-derived dystrophin (the protein absent in DMD) throughout most of the musculature to stabilize the muscle...
  68. Intravenous Protein Therapy for the Treatment of Duchenne Muscular Dystrophy
    BRADLEY HODGES; Fiscal Year: 2009
    ..DMD is caused by a deficiency of dystrophin, a cytoskeletal protein which tethers the contractile apparatus to the membrane and basal lamina of skeletal and ..
  69. Dystrophin restoration in two animal models of Duchenne Muscular Dystrophy
    LOUISE RODINO; Fiscal Year: 2009
    ..It causes muscle weakness due to a defective gene that results in the loss of an important muscle protein called Dystrophin. Presently there is no effective cure for DMD and only limited treatment options...
  70. Identification of Enhancers of Therapeutic Exon Skipping for DMD
    MELISSA JAN SPENCER; Fiscal Year: 2010
    ..Based on the structure of dystrophin, as well as the mutational profile of patients with DMD, this disease is potentially amenable to an exon ..
  71. Gene Therapy for Muscular Dystrophy
    Hengjun Chao; Fiscal Year: 2009
    ..Duchenne muscular dystrophy (DMD) is an X-linked recessive muscular disease resulting from mutation of dystrophin gene...
  72. Does sleep apnea exacerbate respiratory muscle dysfunction in muscular dystrophy?
    GASPAR FARKAS; Fiscal Year: 2009
    ..dystrophy (DMD), a fatal and crippling disease, results from a mutation of the membrane stabilizing protein dystrophin. Dystrophin-deficient muscles are more susceptible than normal to a variety of stresses...
  73. COGNITIVE & GENETIC ASPECTS: DUCHENNE MUSCULAR DYSTROPHY
    Veronica Hinton; Fiscal Year: 2000
    ..has been hypothesized that mentally retarded boys with DMD may have mutations that disrupt the DMD gene's brain- dystrophin as well as muscle-dystrophin production; and that some regions of the gene may be necessary, but not sufficient, ..
  74. Jeffrey S Chamberlain; Fiscal Year: 2016
    ..Duchenne muscular dystrophy (DMD) is an X-linked recessive, lethal disorder caused by mutations in the dystrophin gene...
  75. GENE THERAPY FOR DUCHENNE MUSCULAR DYSTROPHY
    JEFFREY LEIDEN; Fiscal Year: 1999
    ..Duchenne Muscular Dystrophy is a progressive and lethal X-linked myopathy caused by mutations and deletions in the Dystrophin gene located at Xp21...
  76. Exploring systemic AAV gene delivery in the dystrophic dog
    Dongsheng Duan; Fiscal Year: 2009
    ..It is caused by dystrophin gene mutation. Numerous progresses have been made in the last decade in developing DMD gene therapy...
  77. Cognitive Genetic Aspects of Duchenne Muscular Dystrophy
    Veronica Hinton; Fiscal Year: 2006
    ..DMD is a single-gene disorder that interferes with the expression of the protein dystrophin and its isoforms...
  78. MR Monitoring of PTC124 Treatment in DMD
    KRISTA H VANDENBORNE; Fiscal Year: 2010
    ..is one of the most devastating genetically linked neuromuscular diseases and is characterized by the absence of dystrophin, resulting in progressive muscle weakness, loss of walking ability and premature death...