• KOL
    • Muscular Dystrophy
    • Michele Hadhazy
    • Michele Hadhazy: Influence Statistics

      Michele Hadhazy

      Michele Hadhazy

      Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, United States of America | Center for Genetic Medicine, Northwestern University, ...

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      Michele Hadhazy:Expert Impact

      Concepts for whichMichele Hadhazyhas direct influence:Muscular dystrophy,Vascular spasm,Genetic modifiers,Sulfonylurea receptor,Skeletal muscle,Skeletal muscular dystrophy,Knockout mice,Latent tgfβ.

      Michele Hadhazy:KOL impact

      Concepts related to the work of other authors for whichfor which Michele Hadhazy has influence:Skeletal muscle,Muscular dystrophy,Nuclear envelope,Myoblast fusion,Mdx mice,Membrane repair,Myostatin gene.

      KOL Resume for Michele Hadhazy

      Year
      2022

      Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, United States of America

      2021

      Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA.

      2019

      Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA

      2018

      Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago IL

      2017

      From Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (D.Y.B., M.J.P., J.U.E., M.H., L.D.-C., E.M.M.); Molecular Pathogenesis and Molecular Medicine, University of Chicago, IL (E.Y.K.); Feinberg Cardiovascular Institute, Northwestern University Feinberg School of Medicine, Chicago, IL (L.D.W.); Committee on Development, Regeneration and Stem Cell Biology, University of Chicago, IL (A.H.V.); Northwestern University Center for Advanced Molecular Imaging, Evanston, IL (E.A.W.); and Computation Institute, University of Chicago, IL (L.L.P.).

      Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

      2016

      Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago Illinois, United States of America

      2015

      Center for Genetic Medicine, Northwestern University, Evanston, Illinois, USA.

      2014

      Department of Medicine, The University of Chicago, Chicago, IL 60637, USA.

      2013

      Department of Medicine, The University of Chicago, Chicago, Illinois

      2012

      Department of Medicine, Section of Cardiology, 5841 S. Maryland, MC 6088, Chicago, IL, 60637, USA

      2010

      Department of Medicine, University of Chicago, Chicago, Illinois; and

      2009

      Department of Medicine, Section of Cardiology, Committee on Cell Physiology, and, Department of Human Genetics, University of Chicago, Chicago, Illinois, USA., Genetics Division, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, USA.

      2008

      Department of Medicine, Section of Cardiology

      2006

      Department of Medicine, Section of Cardiology,

      2005

      Department of Medicine, The University of Chicago, Chicago, IL 60637, USA

      2004

      Department of Molecular Genetics and Cell Biology, Department of Medicine, and, Department of Human Genetics, The University of Chicago, Chicago, Illinois, USA.

      2002

      Department of Medicine, Section of Cardiology, The University of Chicago, Illinois

      2001

      From the Department of Medicine, Section of Cardiology, and Department of Human Genetics,

      2000

      Department of Molecular Genetics and Cell Biology, Section of Cardiology, University of Chicago, Chicago, IL 60637, USA.

      Sample of concepts for which Michele Hadhazy is among the top experts in the world.
      Concept World rank
      deltasarcoglycan #2
      weekly steroid #2
      shorter glucocorticoid pulses #2
      muscular dystrophy figure #2
      521δt reading frame #2
      sexually dimorphic mechanisms #2
      skipping limb #2
      weekly prednisonetreated males #2
      521δt transcript #2
      gammasarcoglycan #2
      male myofibers #2
      sgcg exon #2
      eliciting muscle atrophy #2
      521δt #2
      weekly glucocorticoids #2
      c57b6 strains #2
      antilatent tgfβ #2
      exons fibrosis #2
      increased expression annexins #2
      chronic muscle conditions #2
      gammasarcoglycan mutation #2
      human ltbp4 #2
      muscles weekly #2
      the129sv 129 strain #2
      sgcg mutation #2
      weekly prednisone #2
      human 521δt #2
      female myofibers #2
      weekly glucocorticoid exposure #2
      common sgcg mutation #2
      521δt point #2
      human pathological findings #2
      influences muscular #2
      6 521δt #2
      testing exon #2
      intermittent glucocorticoid #2
      tgfβ ltbp4 #2
      sarcoglycan muscle #2
      521δt point mutation #2
      weekly glucocorticoid #2
      γsarcoglycan sgcg gene #2
      sarcoglycan sgcg #2
      evan 129sv #2

      Prominent publications by Michele Hadhazy

      KOL-Index: 11592

      In the vasculature, ATP-sensitive potassium channels (KATP) channels regulate vascular tone. Mice with targeted gene disruptions of KATP subunits expressed in vascular smooth muscle develop spontaneous coronary vascular spasm and sudden death. From these models, it was hypothesized that the loss of KATP channel activity in arterial vascular smooth muscle was responsible for coronary artery spasm. We now tested this hypothesis using a transgenic strategy where the full-length sulfonylurea ...

      Known for Coronary Vasospasm | Mutant Mice | Smooth Muscle | Katp Channels | Sulfonylurea Receptor
      KOL-Index: 10429

      Muscle growth occurs during embryonic development and continues in adult life as regeneration. During embryonic muscle growth and regeneration in mature muscle, singly nucleated myoblasts fuse to each other to form myotubes. In muscle growth, singly nucleated myoblasts can also fuse to existing large, syncytial myofibers as a mechanism of increasing muscle mass without increasing myofiber number. Myoblast fusion requires the alignment and fusion of two apposed lipid bilayers. The repair ...

      Known for Fusion Myoblasts | Muscle Growth | Embryonic Development | Protein Dysferlin | Null Mice
      KOL-Index: 9984

      Most single-gene diseases, including muscular dystrophy, display a nonuniform phenotype. Phenotypic variability arises, in part, due to the presence of genetic modifiers that enhance or suppress the disease process. We employed an unbiased mapping approach to search for genes that modify muscular dystrophy in mice. In a genome-wide scan, we identified a single strong locus on chromosome 7 that influenced two pathological features of muscular dystrophy, muscle membrane permeability and ...

      Known for Muscular Dystrophy | Latent Tgf | Knockout Mice | Binding Protein | Muscle Fibrosis
      KOL-Index: 9924

      Sarcoglycan is a multimeric, integral membrane glycoprotein complex that associates with dystrophin. Mutations in individual sarcoglycan subunits have been identified in inherited forms of muscular dystrophy. To evaluate the contributions of sarcoglycan and dystrophin to muscle membrane stability and muscular dystrophy, we compared muscle lacking specific sarcoglycans or dystrophin. Here we report that mice lacking (delta)-sarcoglycan developed muscular dystrophy and cardiomyopathy ...

      Known for Glycoprotein Complex | Knockout Models | Mdx Mice | Muscle Membrane | Muscular Dystrophy
      KOL-Index: 9706

      Latent TGFβ binding proteins (LTBPs) regulate the extracellular availability of latent TGFβ. LTBP4 was identified as a genetic modifier of muscular dystrophy in mice and humans. An in-frame insertion polymorphism in the murine Ltbp4 gene associates with partial protection against muscular dystrophy. In humans, nonsynonymous single nucleotide polymorphisms in LTBP4 associate with prolonged ambulation in Duchenne muscular dystrophy. To better understand LTBP4 and its role in modifying ...

      Known for Muscular Dystrophy | Latent Tgfβ | Binding Protein | Muscle Mass | Mdx Mice
      KOL-Index: 9427

      Dysferlin is a membrane-associated protein implicated in muscular dystrophy and vesicle movement and function in muscles. The precise role of dysferlin has been debated, partly because of the mild phenotype in dysferlin-null mice (Dysf). We bred Dysf mice to mice lacking myoferlin (MKO) to generate mice lacking both myoferlin and dysferlin (FER). FER animals displayed progressive muscle damage with myofiber necrosis, internalized nuclei, and, at older ages, chronic remodeling and ...

      Known for Dysferlin Myoferlin | Muscular Dystrophy | Dysf Mice | Transverse Tubule | Sarcoplasmic Reticulum
      KOL-Index: 9195

      Mutations in the gene encoding the inner nuclear membrane proteins lamins A and C produce cardiac and skeletal muscle dysfunction referred to as Emery Dreifuss muscular dystrophy. Lamins A and C participate in the LINC complex that, along with the nesprin and SUN proteins, LInk the Nucleoskeleton with the Cytoskeleton. Nesprins 1 and 2 are giant spectrin-repeat containing proteins that have large and small forms. The nesprins contain a transmembrane anchor that tethers to the nuclear ...

      Known for Muscular Dystrophy | Emery Dreifuss | Linc Complex | Nuclear Membrane | Inbred C57bl Mice
      KOL-Index: 8902

      Glucocorticoid steroids such as prednisone are prescribed for chronic muscle conditions such as Duchenne muscular dystrophy, where their use is associated with prolonged ambulation. The positive effects of chronic steroid treatment in muscular dystrophy are paradoxical because these steroids are also known to trigger muscle atrophy. Chronic steroid use usually involves once-daily dosing, although weekly dosing in children has been suggested for its reduced side effects on behavior. In ...

      Known for Muscle Atrophy | Steroid Dosing | Muscular Dystrophy | Inbred Dba Mice | Intermittent Glucocorticoid
      KOL-Index: 8041

      The sarcoglycan complex is found normally at the plasma membrane of muscle. Disruption of the sarcoglycan complex, through primary gene mutations in dystrophin or sarcoglycan subunits, produces membrane instability and muscular dystrophy. Restoration of the sarcoglycan complex at the plasma membrane requires reintroduction of the mutant sarcoglycan subunit in a manner that will permit normal assembly of the entire sarcoglycan complex. To study sarcoglycan gene replacement, we introduced ...

      Known for Muscular Dystrophy | Sarcoglycan Complex | Plasma Membrane | Dystrophin Gene | Transgenic Muscle
      KOL-Index: 6956

      Myostatin, a TGF-beta family member, is a negative regulator of muscle growth. Here, we generated transgenic mice that expressed myostatin mutated at its cleavage site under the control of a muscle specific promoter creating a dominant negative myostatin. These mice exhibited a significant (20-35%) increase in muscle mass that resulted from myofiber hypertrophy and not from myofiber hyperplasia. We also evaluated the role of myostatin in muscle degenerative states, such as muscular ...

      Known for Muscle Myostatin | Dominant Negative | Hypertrophy Hyperplasia | Transgenic Mice | Muscular Dystrophy
      KOL-Index: 6952

      Genetic disruption of the dystrophin complex produces muscular dystrophy characterized by a fragile muscle plasma membrane leading to excessive muscle degeneration. Two genetic modifiers of Duchenne Muscular Dystrophy implicate the transforming growth factor β (TGFβ) pathway, osteopontin encoded by the SPP1 gene and latent TGFβ binding protein 4 (LTBP4). We now evaluated the functional effect of these modifiers in the context of muscle injury and repair to elucidate their mechanisms of ...

      Known for Muscular Dystrophy | Genetic Modifiers | Knockout Muscle | Latent Tgfβ | Beta Binding
      KOL-Index: 6480

      BACKGROUND: Cardiomyopathy and arrhythmias are under significant genetic influence. Here, we studied a family with dilated cardiomyopathy and associated conduction system disease in whom prior clinical cardiac gene panel testing was unrevealing.

      METHODS: Whole-genome sequencing and induced pluripotent stem cells were used to examine a family with dilated cardiomyopathy and atrial and ventricular arrhythmias. We also characterized a mouse model with heterozygous and homozygous deletion of ...

      Known for Dilated Cardiomyopathy | Mybphl Mice | Ventricular Function | Atria Heart | Mouse Model
      KOL-Index: 6324

      Exon skipping uses antisense oligonucleotides as a treatment for genetic diseases. The antisense oligonucleotides used for exon skipping are designed to bypass premature stop codons in the target RNA and restore reading frame disruption. Exon skipping is currently being tested in humans with dystrophin gene mutations who have Duchenne muscular dystrophy. For Duchenne muscular dystrophy, the rationale for exon skipping derived from observations in patients with naturally occurring ...

      Known for Muscular Dystrophy | Exon Skipping | Transgenic Muscle | Γ Sarcoglycan | Antisense Oligonucleotides
      KOL-Index: 6218

      Latent transforming growth factor-β (TGFβ) binding proteins (LTBPs) bind to inactive TGFβ in the extracellular matrix. In mice, muscular dystrophy symptoms are intensified by a genetic polymorphism that changes the hinge region of LTBP, leading to increased proteolytic susceptibility and TGFβ release. We have found that the hinge region of human LTBP4 was also readily proteolysed and that proteolysis could be blocked by an antibody to the hinge region. Transgenic mice were generated to ...

      Known for Muscular Dystrophy | Latent Tgfβ | Hinge Region | Transgenic Mice | Muscle Damage
      KOL-Index: 6140

      Vascular spasm is a poorly understood but critical biomedical process because it can acutely reduce blood supply and tissue oxygenation. Cardiomyopathy in mice lacking gamma-sarcoglycan or delta-sarcoglycan is characterized by focal damage. In the heart, sarcoglycan gene mutations produce regional defects in membrane permeability and focal degeneration, and it was hypothesized that vascular spasm was responsible for this focal necrosis. Supporting this notion, vascular spasm was noted in ...

      Known for Smooth Muscle | Vascular Spasm | Cardiac Myocytes | Sarcoglycan Complex | Mice Mice

      Key People For Muscular Dystrophy

      Top KOLs in the world
      #1
      Eric P Hoffman
      muscular dystrophy skeletal muscle gene expression
      #2
      Louis M Kunkel
      muscular dystrophy skeletal muscle gene expression
      #3
      Francesco Francesco
      muscular dystrophy skeletal muscle dystrophin gene
      #4
      Kevin P Campbell
      skeletal muscle muscular dystrophy sarcoplasmic reticulum
      #5
      Volker W Straub
      muscular dystrophy alglucosidase alfa pompe disease
      #6
      Jerry R Mendell
      duchenne muscular dystrophy gene therapy spinal muscular atrophy

      Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, United States of America | Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA. | Center for Genetic Medicine, Northwestern University

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