Found: 10

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  • Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2.

    Published in:
    Cells (2073-4409), 2023, v. 12, n. 5, p. 721, doi. 10.3390/cells12050721
    By:
    • Broadway-Stringer, Sophie;
    • Jiang, He;
    • Wadmore, Kirsty;
    • Hooper, Charlotte;
    • Douglas, Gillian;
    • Steeples, Violetta;
    • Azad, Amar J.;
    • Singer, Evie;
    • Reyat, Jasmeet S.;
    • Galatik, Frantisek;
    • Ehler, Elisabeth;
    • Bennett, Pauline;
    • Kalisch-Smith, Jacinta I.;
    • Sparrow, Duncan B.;
    • Davies, Benjamin;
    • Djinovic-Carugo, Kristina;
    • Gautel, Mathias;
    • Watkins, Hugh;
    • Gehmlich, Katja
    Publication type:
    Article

  • Metabolic profiling of aortic stenosis and hypertrophic cardiomyopathy identifies mechanistic contrasts in substrate utilization.

    Published in:
    FASEB Journal, 2024, v. 38, n. 6, p. 1, doi. 10.1096/fj.202301710RR
    By:
    • Pal, Nikhil;
    • Acharjee, Animesh;
    • Ament, Zsuzsanna;
    • Dent, Tim;
    • Yavari, Arash;
    • Mahmod, Masliza;
    • Ariga, Rina;
    • West, James;
    • Steeples, Violetta;
    • Cassar, Mark;
    • Howell, Neil J.;
    • Lockstone, Helen;
    • Elliott, Kate;
    • Yavari, Parisa;
    • Briggs, William;
    • Frenneaux, Michael;
    • Prendergast, Bernard;
    • Dwight, Jeremy S.;
    • Kharbanda, Rajesh;
    • Watkins, Hugh
    Publication type:
    Article

  • Mammalian γ2 AMPK regulates intrinsic heart rate.

    Published in:
    Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01342-5
    By:
    • Yavari, Arash;
    • Bellahcene, Mohamed;
    • Bucchi, Annalisa;
    • Sirenko, Syevda;
    • Pinter, Katalin;
    • Herring, Neil;
    • Jung, Julia J.;
    • Tarasov, Kirill V.;
    • Sharpe, Emily J.;
    • Wolfien, Markus;
    • Czibik, Gabor;
    • Steeples, Violetta;
    • Ghaffari, Sahar;
    • Nguyen, Chinh;
    • Stockenhuber, Alexander;
    • Clair, Joshua R.St.;
    • Rimmbach, Christian;
    • Yosuke Okamoto;
    • Dongmei Yang;
    • Mingyi Wang
    Publication type:
    Article

  • A Mutation in the Mitochondrial Fission Gene Dnm1l Leads to Cardiomyopathy.

    Published in:
    PLoS Genetics, 2010, v. 6, n. 6, p. 1, doi. 10.1371/journal.pgen.1001000
    By:
    • Ashrafian, Houman;
    • Docherty, Louise;
    • Leo, Vincenzo;
    • Towlson, Christopher;
    • Neilan, Monica;
    • Steeples, Violetta;
    • Lygate, Craig A.;
    • Hough, Tertius;
    • Townsend, Stuart;
    • Williams, Debbie;
    • Wells, Sara;
    • Norris, Dominic;
    • Glyn-Jones, Sarah;
    • Land, John;
    • Barbaric, Ivana;
    • Lalanne, Zuzanne;
    • Denny, Paul;
    • Szumska, Dorota;
    • Bhattacharya, Shoumo;
    • Griffin, Julian L.
    Publication type:
    Article

  • Cell-specific proteome analyses of human bone marrow reveal molecular features of age-dependent functional decline.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06353-4
    By:
    • Hennrich, Marco L.;
    • Romanov, Natalie;
    • Horn, Patrick;
    • Jaeger, Samira;
    • Eckstein, Volker;
    • Steeples, Violetta;
    • Ye, Fei;
    • Ding, Ximing;
    • Poisa-Beiro, Laura;
    • Lai, Mang Ching;
    • Lang, Benjamin;
    • Boultwood, Jacqueline;
    • Luft, Thomas;
    • Zaugg, Judith B.;
    • Pellagatti, Andrea;
    • Bork, Peer;
    • Aloy, Patrick;
    • Gavin, Anne-Claude;
    • Ho, Anthony D.
    Publication type:
    Article

  • Functional analysis of a gene‑edited mouse model to gain insights into the disease mechanisms of a titin missense variant.

    Published in:
    Basic Research in Cardiology, 2021, v. 116, n. 1, p. 1, doi. 10.1007/s00395-021-00853-z
    By:
    • He Jiang;
    • Hooper, Charlotte;
    • Kelly, Matthew;
    • Steeples, Violetta;
    • Simon, Jillian N.;
    • Beglov, Julia;
    • Azad, Amar J.;
    • Leinhos, Lisa;
    • Bennett, Pauline;
    • Ehler, Elisabeth;
    • Kalisch‑Smith, Jacinta I.;
    • Sparrow, Duncan B.;
    • Fischer, Roman;
    • Heilig, Raphael;
    • Isackson, Henrik;
    • Ehsan, Mehroz;
    • Patone, Giannino;
    • Huebner, Norbert;
    • Davies, Benjamin;
    • Watkins, Hugh
    Publication type:
    Article

  • The U2AF1S34F mutation induces lineage-specific splicing alterations in myelodysplastic syndromes.

    Published in:
    2017
    By:
    • Yip, Bon Ham;
    • Steeples, Violetta;
    • Repapi, Emmanouela;
    • Armstrong, Richard N;
    • Llorian, Miriam;
    • Roy, Swagata;
    • Shaw, Jacqueline;
    • Dolatshad, Hamid;
    • Taylor, Stephen;
    • Verma, Amit;
    • Bartenstein, Matthias;
    • Vyas, Paresh;
    • Cross, Nicholas Cp;
    • Malcovati, Luca;
    • Cazzola, Mario;
    • Hellström-Lindberg, Eva;
    • Ogawa, Seishi;
    • Smith, Christopher Wj;
    • Pellagatti, Andrea;
    • Boultwood, Jacqueline
    Publication type:
    journal article

  • The U2AF1S34F mutation induces lineage-specific splicing alterations in myelodysplastic syndromes.

    Published in:
    2017
    By:
    • Bon Ham Yip;
    • Steeples, Violetta;
    • Repapi, Emmanouela;
    • Armstrong, Richard N.;
    • Llorian, Miriam;
    • Roy, Swagata;
    • Shaw, Jacqueline;
    • Dolatshad, Hamid;
    • Taylor, Stephen;
    • Verma, Amit;
    • Bartenstein, Matthias;
    • Vyas, Paresh;
    • Cross, Nicholas C. P.;
    • Malcovati, Luca;
    • Cazzola, Mario;
    • Hellström-Lindberg, Eva;
    • Seishi Ogawa;
    • Smith, Christopher W. J.;
    • Pellagatti, Andrea;
    • Boultwood, Jacqueline
    Publication type:
    journal article

  • Activation of targetable inflammatory immune signaling is seen in myelodysplastic syndromes with SF3B1 mutations.

    Published in:
    eLife, 2022, p. 1, doi. 10.7554/eLife.78136
    By:
    • Choudhary, Gaurav S.;
    • Pellagatti, Andrea;
    • Agianian, Bogos;
    • Smith, Molly A.;
    • Bhagat, Tushar D.;
    • Gordon-Mitchell, Shanisha;
    • Sahu, Srabani;
    • Pandey, Sanjay;
    • Shah, Nishi;
    • Aluri, Srinivas;
    • Aggarwal, Ritesh;
    • Aminov, Sarah;
    • Schwartz, Leya;
    • Steeples, Violetta;
    • Booher, Robert N.;
    • Ramachandra, Murali;
    • Samson, Maria;
    • Carbajal, Milagros;
    • Pradhan, Kith;
    • Bowman, Teresa V.
    Publication type:
    Article

  • The role of vascular myoglobin in nitrite-mediated blood vessel relaxation.

    Published in:
    Cardiovascular Research, 2011, v. 89, n. 3, p. 560, doi. 10.1093/cvr/cvq299
    By:
    • Ormerod, Julian O.M.;
    • Ashrafian, Houman;
    • Maher, Abdul R.;
    • Arif, Sayqa;
    • Steeples, Violetta;
    • Born, Gustav V.R.;
    • Egginton, Stuart;
    • Feelisch, Martin;
    • Watkins, Hugh;
    • Frenneaux, Michael P.
    Publication type:
    Article