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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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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1673: Show issues Location:
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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. Article ; Online: A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter release.

    van Boven, Maaike A / Mestroni, Marta / Zwijnenburg, Petra J G / Verhage, Matthijs / Cornelisse, L Niels

    Molecular psychiatry

    2024  

    Abstract: Synaptotagmin-1 (Syt1) is a presynaptic calcium sensor with two calcium binding domains, C2A and C2B, that triggers action potential-induced synchronous neurotransmitter release, while suppressing asynchronous and spontaneous release. We identified a de ... ...

    Abstract Synaptotagmin-1 (Syt1) is a presynaptic calcium sensor with two calcium binding domains, C2A and C2B, that triggers action potential-induced synchronous neurotransmitter release, while suppressing asynchronous and spontaneous release. We identified a de novo missense mutation (P401L) in the C2B domain in a patient with developmental delay and autistic symptoms. Expressing the orthologous mouse mutant (P400L) in cultured Syt1 null mutant neurons revealed a reduction in dendrite outgrowth with a proportional reduction in synapses. This was not observed in single Syt1
    Language English
    Publishing date 2024-02-06
    Publishing country England
    Document type Journal Article
    ZDB-ID 1330655-8
    ISSN 1476-5578 ; 1359-4184
    ISSN (online) 1476-5578
    ISSN 1359-4184
    DOI 10.1038/s41380-024-02444-5
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  4. 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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  5. 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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  6. 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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    Zs.A 2556: Show issues Location:
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  7. Article ; Online: New perspective for the upscaling of plant functional response to flooding stress in salt marshes using remote sensing.

    Vuerich, Marco / Cingano, Paolo / Trotta, Giacomo / Petrussa, Elisa / Braidot, Enrico / Scarpin, Dora / Bezzi, Annelore / Mestroni, Michele / Pellegrini, Elisa / Boscutti, Francesco

    Scientific reports

    2024  Volume 14, Issue 1, Page(s) 5472

    Abstract: ... stress due to flooding in lagoon salt marshes. We studied the response of Salicornia fruticosa (L.) L ...

    Abstract Understanding the response of salt marshes to flooding is crucial to foresee the fate of these fragile ecosystems, requiring an upscaling approach. In this study we related plant species and community response to multispectral indices aiming at parsing the power of remote sensing to detect the environmental stress due to flooding in lagoon salt marshes. We studied the response of Salicornia fruticosa (L.) L. and associated plant community along a flooding and soil texture gradient in nine lagoon salt marshes in northern Italy. We considered community (i.e., species richness, dry biomass, plant height, dry matter content) and individual traits (i.e., annual growth, pigments, and secondary metabolites) to analyze the effect of flooding depth and its interplay with soil properties. We also carried out a drone multispectral survey, to obtain remote sensing-derived vegetation indices for the upscaling of plant responses to flooding. Plant diversity, biomass and growth all declined as inundation depth increased. The increase of soil clay content exacerbated flooding stress shaping S. fruticosa growth and physiological responses. Multispectral indices were negatively related with flooding depth. We found key species traits rather than other community traits to better explain the variance of multispectral indices. In particular stem length and pigment content (i.e., betacyanin, carotenoids) were more effective than other community traits to predict the spectral indices in an upscaling perspective of salt marsh response to flooding. We proved multispectral indices to potentially capture plant growth and plant eco-physiological responses to flooding at the large scale. These results represent a first fundamental step to establish long term spatial monitoring of marsh acclimation to sea level rise with remote sensing. We further stressed the importance to focus on key species traits as mediators of the entire ecosystem changes, in an ecological upscaling perspective.
    MeSH term(s) Wetlands ; Ecosystem ; Remote Sensing Technology ; Acclimatization ; Soil
    Chemical Substances Soil
    Language English
    Publishing date 2024-03-05
    Publishing country England
    Document type Journal Article
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-024-56165-4
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  8. 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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    Ui IV Zs.60: Show issues Location:
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  9. Article: Modifications of Titin Contribute to the Progression of Cardiomyopathy and Represent a Therapeutic Target for Treatment of Heart Failure.

    Tharp, Charles / Mestroni, Luisa / Taylor, Matthew

    Journal of clinical medicine

    2020  Volume 9, Issue 9

    Abstract: Titin is the largest human protein and an essential component of the cardiac sarcomere. With multiple immunoglobulin(Ig)-like domains that serve as molecular springs, titin contributes significantly to the passive tension, systolic function, and ... ...

    Abstract Titin is the largest human protein and an essential component of the cardiac sarcomere. With multiple immunoglobulin(Ig)-like domains that serve as molecular springs, titin contributes significantly to the passive tension, systolic function, and diastolic function of the heart. Mutations leading to early termination of titin are the most common genetic cause of dilated cardiomyopathy. Modifications of titin, which change protein length, and relative stiffness affect resting tension of the ventricle and are associated with acquired forms of heart failure. Transcriptional and post-translational changes that increase titin's length and extensibility, making the sarcomere longer and softer, are associated with systolic dysfunction and left ventricular dilation. Modifications of titin that decrease its length and extensibility, making the sarcomere shorter and stiffer, are associated with diastolic dysfunction in animal models. There has been significant progress in understanding the mechanisms by which titin is modified. As molecular pathways that modify titin's mechanical properties are elucidated, they represent therapeutic targets for treatment of both systolic and diastolic dysfunction. In this article, we review titin's contribution to normal cardiac physiology, the pathophysiology of titin truncation variations leading to dilated cardiomyopathy, and transcriptional and post-translational modifications of titin. Emphasis is on how modification of titin can be utilized as a therapeutic target for treatment of heart failure.
    Language English
    Publishing date 2020-08-26
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm9092770
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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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    Zs.A 1673: Show issues Location:
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