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, ...

Michele Hadhazy: Expert Impact

Concepts for which Michele Hadhazy has direct influence: Muscular dystrophy , Vascular spasm , Genetic modifiers , Sulfonylurea receptor , Skeletal muscle , Skeletal muscular dystrophy , Knockout mice .

Michele Hadhazy: KOL impact

Concepts related to the work of other authors for which for 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.

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 ...
Known for Coronary Vasospasm | Mutant Mice | Smooth Muscle | Katp Channels
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 ...
Known for Fusion Myoblasts | Muscle Growth | Embryonic Development | Protein Dysferlin
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 ...
Known for Muscular Dystrophy | Latent Tgf | Knockout Mice | Binding Protein
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 ...
Known for Glycoprotein Complex | Knockout Models | Mdx Mice | Muscle Membrane
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 ...
Known for Muscular Dystrophy | Latent Tgfβ | Binding Protein | Muscle Mass
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 ...
Known for Dysferlin Myoferlin | Muscular Dystrophy | Dysf Mice | Transverse Tubule
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 ...
Known for Muscular Dystrophy | Emery Dreifuss | Linc Complex | Nuclear Membrane
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, ...
Known for Muscle Atrophy | Steroid Dosing | Muscular Dystrophy | Inbred Dba Mice
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 ...
Known for Muscular Dystrophy | Sarcoglycan Complex | Plasma Membrane | Dystrophin Gene
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 ...
Known for Muscle Myostatin | Dominant Negative | Hypertrophy Hyperplasia | Transgenic Mice
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 ...
Known for Muscular Dystrophy | Genetic Modifiers | Knockout Muscle | Latent Tgfβ
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 ...
Known for Dilated Cardiomyopathy | Mybphl Mice | Ventricular Function | Atria Heart
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, ...
Known for Muscular Dystrophy | Exon Skipping | Transgenic Muscle | Γ Sarcoglycan
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 ...
Known for Muscular Dystrophy | Latent Tgfβ | Hinge Region | Transgenic Mice
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 ...
Known for Smooth Muscle | Vascular Spasm | Cardiac Myocytes | Sarcoglycan Complex

Key People For Muscular Dystrophy

Top KOLs in the world
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Eric P Hoffman
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#2
Louis M Kunkel
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Francesco Francesco
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Kevin P Campbell
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#5
Volker W Straub
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Jerry R Mendell
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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