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  1. Article ; Online: The electrocardiographic signature of variant transthyretin amyloidosis.

    Slaven, Sarah / Raymer, David S / Mestroni, Luisa

    International journal of cardiology

    2023  Volume 398, Page(s) 131442

    MeSH term(s) Humans ; Amyloid Neuropathies, Familial/diagnosis ; Amyloid Neuropathies, Familial/genetics ; Electrocardiography ; Prealbumin/genetics
    Chemical Substances Prealbumin
    Language English
    Publishing date 2023-10-17
    Publishing country Netherlands
    Document type Editorial
    ZDB-ID 779519-1
    ISSN 1874-1754 ; 0167-5273
    ISSN (online) 1874-1754
    ISSN 0167-5273
    DOI 10.1016/j.ijcard.2023.131442
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  2. Article ; Online: Genetics of Dilated Cardiomyopathy.

    Eldemire, Ramone / Mestroni, Luisa / Taylor, Matthew R G

    Annual review of medicine

    2023  Volume 75, Page(s) 417–426

    Abstract: Dilated cardiomyopathy (DCM) is defined as dilation and/or reduced function of one or both ventricles and remains a common disease worldwide. An estimated 40% of cases of familial DCM have an identifiable genetic cause. Accordingly, there is a fast- ... ...

    Abstract Dilated cardiomyopathy (DCM) is defined as dilation and/or reduced function of one or both ventricles and remains a common disease worldwide. An estimated 40% of cases of familial DCM have an identifiable genetic cause. Accordingly, there is a fast-growing interest in the field of molecular genetics as it pertains to DCM. Many gene mutations have been identified that contribute to phenotypically significant cardiomyopathy. DCM genes can affect a variety of cardiomyocyte functions, and particular genes whose function affects the cell-cell junction and cytoskeleton are associated with increased risk of arrhythmias and sudden cardiac death. Through advancements in next-generation sequencing and cardiac imaging, identification of genetic DCM has improved over the past couple decades, and precision medicine is now at the forefront of treatment for these patients and their families. In addition to standard treatment of heart failure and prevention of arrhythmias and sudden cardiac death, patients with genetic cardiomyopathy stand to benefit from gene mechanism-specific therapies.
    MeSH term(s) Humans ; Cardiomyopathy, Dilated/genetics ; Cardiomyopathy, Dilated/therapy ; Arrhythmias, Cardiac/genetics ; Death, Sudden, Cardiac/etiology ; Death, Sudden, Cardiac/prevention & control ; Mutation/genetics ; Heart Failure
    Language English
    Publishing date 2023-10-03
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 207930-6
    ISSN 1545-326X ; 0066-4219
    ISSN (online) 1545-326X
    ISSN 0066-4219
    DOI 10.1146/annurev-med-052422-020535
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  3. Book: Genetic cardiomyopathies

    Sinagra, Gianfranco / Mestroni, Luisa / Camerini, Fulvio

    a clinical approach

    2012  

    Author's details Gianfranco Sinagra ; Luisa Mestroni ; Fulvio Camerini ed
    Language English
    Size XI, 166 S. : Ill., graph. Darst.
    Publisher Springer
    Publishing place Milan u.a.
    Publishing country Italy
    Document type Book
    HBZ-ID HT017435378
    ISBN 978-88-470-2756-5 ; 9788847027572 ; 88-470-2756-X ; 8847027578
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
    2012 A 4366 order for loan Magazin

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  4. Book ; Online: Current Challenges in Cardiovascular Molecular Diagnostics

    Guffanti, Guia / Napolitano, Carlo / Towbin, Jeffrey A. / Mestroni, Luisa / Novelli, Valeria / Vatta, Matteo

    2017  

    Abstract: The field of cardiovascular genetics has tremendously benefited from the recent application of massive parallel sequencing technology also referred to as next generation sequencing (NGS). However, along with the discovery of additional genes associated ... ...

    Abstract The field of cardiovascular genetics has tremendously benefited from the recent application of massive parallel sequencing technology also referred to as next generation sequencing (NGS). However, along with the discovery of additional genes associated with human cardiac diseases, the analysis of large dataset of genetic information uncovered a much more complex and variegated landscape, which often departs from the comfort zone of the monogenic Mendelian diseases image that clinical molecular geneticists have been well acquainted with for many decades.-

    It is now clear that, in addition to highly penetrant genetic variants, which in isolation are able to recapitulate the full clinical presentation when expressed in animal models, we are now aware that a small but significant fraction of subjects presenting with cardiac muscle diseases such as cardiomyopathies or primary arrhythmias such as long QT syndrome (LQTS), may harbor at least two deleterious variants in the same gene (compound heterozygous) or in different gene (double heterozygous). Although the clinical presentation in subjects with more than one deleterious variant appears to be more severe and with an earlier disease onset, it somehow changes the viewpoint of clinical molecular geneticists whose aim is to identify all possible genetic contributors to a human condition.-

    In this light, the employment in clinical diagnostics of the NGS technology, allowing the simultaneous interrogation of a DNA target spanning from large panel of genes up to the entire genome, will definitely aid at uncovering all such contributors, which will have to be tested functionally to confirm their role in human cardiac conditions. The uncovering of all clinically relevant deleterious changes associated with a cardiovascular disease would probably increase our understanding of the clinical variability commonly occurring among affected family relatives, and potentially provide with unexpected therapeutic targets for the treatment of symptoms related to the presence of "accessory" deleterious genetic variants other than the key molecular culprit.-
    Keywords Medicine (General)
    Size 1 electronic resource (128 p.)
    Publisher Frontiers Media SA
    Document type Book ; Online
    Note English ; Open Access
    HBZ-ID HT020097420
    ISBN 9782889452811 ; 2889452816
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  5. Article ; Online: Hidden Risk: Arrhythmogenic Genes in the General Population.

    Gao, Shanshan / Taylor, Matthew R G / Mestroni, Luisa

    Circulation. Genomic and precision medicine

    2022  Volume 15, Issue 5, Page(s) e003869

    MeSH term(s) Humans ; Arrhythmias, Cardiac/genetics ; Arrhythmogenic Right Ventricular Dysplasia/genetics
    Language English
    Publishing date 2022-08-18
    Publishing country United States
    Document type Editorial ; Comment
    ISSN 2574-8300
    ISSN (online) 2574-8300
    DOI 10.1161/CIRCGEN.122.003869
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  6. Article ; Online: Filamin C Deficiency Impairs Sarcomere Stability and Activates Focal Adhesion Kinase through PDGFRA Signaling in Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

    Gao, Shanshan / He, Lingaonan / Lam, Chi Keung / Taylor, Matthew R G / Mestroni, Luisa / Lombardi, Raffaella / Chen, Suet Nee

    Cells

    2024  Volume 13, Issue 3

    Abstract: Truncating mutations in filamin C ( ...

    Abstract Truncating mutations in filamin C (
    MeSH term(s) Humans ; Cardiomyopathies/metabolism ; Filamins/genetics ; Filamins/metabolism ; Focal Adhesion Protein-Tyrosine Kinases/metabolism ; Induced Pluripotent Stem Cells/metabolism ; Myocytes, Cardiac/metabolism ; Receptor Protein-Tyrosine Kinases/metabolism ; Sarcomeres/metabolism ; Signal Transduction
    Chemical Substances Filamins ; Focal Adhesion Protein-Tyrosine Kinases (EC 2.7.10.2) ; Receptor Protein-Tyrosine Kinases (EC 2.7.10.1) ; FLNC protein, human
    Language English
    Publishing date 2024-02-02
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2661518-6
    ISSN 2073-4409 ; 2073-4409
    ISSN (online) 2073-4409
    ISSN 2073-4409
    DOI 10.3390/cells13030278
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  7. Article ; Online: Precision medicine in laminopathies: insights from the REDLAMINA registry.

    Eldemire, Ramone / Taylor, Matthew R G / Mestroni, Luisa

    Revista espanola de cardiologia (English ed.)

    2020  Volume 74, Issue 3, Page(s) 208–209

    MeSH term(s) Humans ; Laminopathies ; Precision Medicine ; Registries
    Language Spanish
    Publishing date 2020-11-06
    Publishing country Spain
    Document type Journal Article
    ZDB-ID 2592481-3
    ISSN 1885-5857 ; 1885-5857
    ISSN (online) 1885-5857
    ISSN 1885-5857
    DOI 10.1016/j.rec.2020.09.021
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  8. Article ; Online: Genetics of dilated cardiomyopathy.

    Chen, Suet Nee / Mestroni, Luisa / Taylor, Matthew R G

    Current opinion in cardiology

    2021  Volume 36, Issue 3, Page(s) 288–294

    Abstract: Purpose of review: Dilated cardiomyopathy (DCM), which include genetic and nongenetic forms, is the most common form of cardiomyopathy. DCM is characterized by left ventricular or biventricular dilation with impaired contraction. In the United States, ... ...

    Abstract Purpose of review: Dilated cardiomyopathy (DCM), which include genetic and nongenetic forms, is the most common form of cardiomyopathy. DCM is characterized by left ventricular or biventricular dilation with impaired contraction. In the United States, DCM is a burden to healthcare that accounts for approximately 10,000 deaths and 46,000 hospitalizations annually. In this review, we will focus on the genetic forms of DCM and on recent advances in the understanding of cytoskeletal, sarcomeric, desmosomal, nuclear membrane, and RNA binding genes that contribute to the complexity and genetic heterogeneity of DCM.
    Recent findings: Although mutations in TTN remain the most common identifiable cause of genetic DCM, there is a growing appreciation for arrhythmogenic-prone DCM due to mutations in LMNA, desmosomal genes, and the recently described FLNC gene encoding the structural filamin C protein. Mutations in RBM20 highlight the relevance of RNA splicing regulation in the pathogenesis of DCM. Although expanded genetic testing has improved access to genetic diagnostic studies for many patients, the molecular mechanisms in the pathogenesis of the disease remained largely unknown.
    Summary: : The identification of the molecular causes and subsequent insight into the molecular mechanisms of DCM is expanding our understanding of DCM pathogenesis and highlights the complexity of DCM and the need to develop multifaceted strategies to treat the various causes of DCM.
    MeSH term(s) Arrhythmias, Cardiac/genetics ; Cardiomyopathy, Dilated/genetics ; Genetic Testing ; Heart Ventricles ; Humans ; Mutation
    Language English
    Publishing date 2021-03-17
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 645186-x
    ISSN 1531-7080 ; 0268-4705
    ISSN (online) 1531-7080
    ISSN 0268-4705
    DOI 10.1097/HCO.0000000000000845
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2556: Show issues Location:
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  9. Article ; Online: Arrhythmogenic Cardiomyopathy: Mechanotransduction Going Wrong.

    Mestroni, Luisa / Sbaizero, Orfeo

    Circulation

    2018  Volume 137, Issue 15, Page(s) 1611–1613

    MeSH term(s) Arrhythmogenic Right Ventricular Dysplasia ; Cardiomyopathies ; Cell Membrane ; Desmin/genetics ; Humans ; Mechanotransduction, Cellular ; Mutation
    Chemical Substances Desmin
    Language English
    Publishing date 2018-04-09
    Publishing country United States
    Document type Editorial ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 80099-5
    ISSN 1524-4539 ; 0009-7322 ; 0069-4193 ; 0065-8499
    ISSN (online) 1524-4539
    ISSN 0009-7322 ; 0069-4193 ; 0065-8499
    DOI 10.1161/CIRCULATIONAHA.118.033558
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Understanding the role of titin in dilated cardiomyopathy.

    Eldemire, Ramone / Taylor, Matthew R G / Mestroni, Luisa

    International journal of cardiology

    2020  Volume 316, Page(s) 186–187

    MeSH term(s) Cardiomyopathy, Dilated/diagnostic imaging ; Connectin/genetics ; Humans ; Muscle Proteins ; Prognosis
    Chemical Substances Connectin ; Muscle Proteins ; TTN protein, human
    Language English
    Publishing date 2020-07-04
    Publishing country Netherlands
    Document type Editorial ; Comment
    ZDB-ID 779519-1
    ISSN 1874-1754 ; 0167-5273
    ISSN (online) 1874-1754
    ISSN 0167-5273
    DOI 10.1016/j.ijcard.2020.06.064
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