Michele Hadhazy

Michele Hadhazy

Department Of Medicine, Section Of Cardiology, And Department Of Human Genetics, University Of Chicago, 5841 S. Maryland, Mc 6088, Chicago, Il 60637, Usa

Direct Impact

Concepts for which Michele Hadhazy has direct influence:

muscular dystrophy
exon skipping
skeletal muscle
vascular spasm
genetic modifiers
sulfonylurea receptor
newborn heart

External impact

Concepts related to the work of other authors for which Michele Hadhazy has influence:

ltbp-4 isoforms
muscle growth
autosomal recessive cutis laxa
muscular dystrophy
reduced myostatin
distinct functions
mouse model

Prominent publications by Michele Hadhazy

KOL-Index: 32 Like other single-gene disorders, muscular dystrophy displays a range of phenotypic heterogeneity even with the same primary mutation. Identifying genetic modifiers capable of altering the course of muscular dystrophy is one approach to deciphering gene-gene interactions that can be exploited for therapy development. To this end, we used an intercross strategy in mice to map modifiers of ...
Known for
Met62ile | Enhanced Proliferation | Broadly Expressed Dual-Specificity Phosphatase | Modifiers
KOL-Index: 31 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
Increased Inflammatory Infiltrate | Duchenne Muscular Dystrophy | Mdx Mouse Model | Bacterial Artificial Chromosome
KOL-Index: 29 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
Truncated Mybp-Hl Protein | Cardiomyopathy Arrhythmias | Mybphl Atria | Cardiac Conduction Abnormalities
KOL-Index: 24 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 ...
Known for
Entire Sarcoglycan Complex | Reintroduction | Greatly Reduced Muscle Mass | Sarcoglycan Overexpression
KOL-Index: 22 The adult myocardium relies on oxidative metabolism. In ischemic myocardium, such as the embryonic heart, glycolysis contributes more prominently as a fuel source. The sulfonylurea receptor 2 (SUR2) was previously implicated in the normal myocardial transition from glycolytic to oxidative metabolism that occurs during adaptation to postnatal life. This receptor was now selectively deleted in ...
Known for
Ischemic Myocardium | Major Glucose Transporter | Ischemia Reperfusion Injury | Normal Myocardial Transition
KOL-Index: 21 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
Muscle Ameliorates | Gdf11 | Mature Myofibers | Ltbp4 Associate
KOL-Index: 19 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 ...
Known for
Dystrophin Glycoprotein | Individual Sarcoglycan Subunits | Delta-Sarcoglycan-Deficient Muscle | Eccentric Contraction-Induced Disruption
KOL-Index: 19 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 ...
Known for
Nesprin Sun Proteins | Skeletal Muscle Dysfunction | Coimmunoprecipitation | C-Terminus
KOL-Index: 15 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
Concert | Genetic Manipulation | Key Components | Dystrophy Sarcolemmal
KOL-Index: 15 Sulfonylurea receptor-containing ATP-sensitive potassium (K(ATP)) channels have been implicated in cardioprotection, but the cell type and constitution of channels responsible for this protection have not been clear. Mice deleted for the first nucleotide binding region of sulfonylurea receptor 2 (SUR2) are referred to as SUR2 null since they lack full-length SUR2 and glibenclamide-responsive ...
Known for
Nucleotide Binding Region | Elevation Sulfonylurea | Cardiac Sur2-Katp Channels | Postischemia Reperfusion Period

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

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