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

Authors: Gaurav S Choudhary, Andrea Pellagatti, Bogos Agianian, Molly A Smith, Tushar D Bhagat, Shanisha Gordon-Mitchell, Srabani Sahu, Sanjay Pandey, Nishi Shah, Srinivas Aluri, Ritesh Aggarwal, Sarah Aminov, Leya Schwartz, Violetta Steeples, Robert N Booher, Murali Ramachandra, Maria Samson, Milagros Carbajal, Kith Pradhan, Teresa V Bowman, Manoj M Pillai, Britta Will, Amittha Wickrema, Aditi Shastri, Robert K Bradley, Robert E Martell, Ulrich G Steidl, Evripidis Gavathiotis, Jacqueline Boultwood, Daniel T Starczynowski, Amit Verma

Source: eLife, Vol 11 (2022)

Subject Terms: IRAK4, SF3B1, MDS, AML, CA4948, Emavusertib, Medicine, Science, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://elifesciences.org/articles/78136; https://doaj.org/toc/2050-084X

Access URL: https://doaj.org/article/530c5c84de264ae68b3135c39fce561b

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

Authors: Sophie Broadway-Stringer, He Jiang, Kirsty Wadmore, Charlotte Hooper, Gillian Douglas, Violetta Steeples, Amar J. Azad, Evie Singer, Jasmeet S. Reyat, Frantisek Galatik, Elisabeth Ehler, Pauline Bennett, Jacinta I. Kalisch-Smith, Duncan B. Sparrow, Benjamin Davies, Kristina Djinovic-Carugo, Mathias Gautel, Hugh Watkins, Katja Gehmlich

Source: Cells, Vol 12, Iss 5, p 721 (2023)

Subject Terms: alpha-actinin, embryonic heart, sarcomere, cardiomyopathy, proteomics, mitochondria, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/12/5/721; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/0ba42ffd89aa445d9501041c0b0f406d

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

Authors: Marco L. Hennrich, Natalie Romanov, Patrick Horn, Samira Jaeger, Volker Eckstein, Violetta Steeples, Fei Ye, Ximing Ding, Laura Poisa-Beiro, Mang Ching Lai, Benjamin Lang, Jacqueline Boultwood, Thomas Luft, Judith B. Zaugg, Andrea Pellagatti, Peer Bork, Patrick Aloy, Anne-Claude Gavin, Anthony D. Ho

Source: Nature Communications, Vol 9, Iss 1, Pp 1-18 (2018)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/86524845718d4cb59745f4c377ff0da5

Mammalian γ2 AMPK regulates intrinsic heart rate

Authors: Arash Yavari, Mohamed Bellahcene, Annalisa Bucchi, Syevda Sirenko, Katalin Pinter, Neil Herring, Julia J. Jung, Kirill V. Tarasov, Emily J. Sharpe, Markus Wolfien, Gabor Czibik, Violetta Steeples, Sahar Ghaffari, Chinh Nguyen, Alexander Stockenhuber, Joshua R. St. Clair, Christian Rimmbach, Yosuke Okamoto, Dongmei Yang, Mingyi Wang, Bruce D. Ziman, Jack M. Moen, Daniel R. Riordon, Christopher Ramirez, Manuel Paina, Joonho Lee, Jing Zhang, Ismayil Ahmet, Michael G. Matt, Yelena S. Tarasova, Dilair Baban, Natasha Sahgal, Helen Lockstone, Rathi Puliyadi, Joseph de Bono, Owen M. Siggs, John Gomes, Hannah Muskett, Mahon L. Maguire, Youlia Beglov, Matthew Kelly, Pedro P. N. dos Santos, Nicola J. Bright, Angela Woods, Katja Gehmlich, Henrik Isackson, Gillian Douglas, David J. P. Ferguson, Jürgen E. Schneider, Andrew Tinker, Olaf Wolkenhauer, Keith M. Channon, Richard J. Cornall, Eduardo B. Sternick, David J. Paterson, Charles S. Redwood, David Carling, Catherine Proenza, Robert David, Mirko Baruscotti, Dario DiFrancesco, Edward G. Lakatta, Hugh Watkins, Houman Ashrafian

Source: Nature Communications, Vol 8, Iss 1, Pp 1-19 (2017)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/93dc1bb6f94248b0bbd5f23512479816

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

Authors: Sophie Broadway-Stringer (Institute of Cardiovascular Sciences, University of Birmingham), He Jiang (Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence Oxford, University of Oxford), Kirsty Wadmore (Institute of Cardiovascular Sciences, University of Birmingham), Charlotte Hooper (Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence Oxford, University of Oxford), Gillian Douglas (Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence Oxford, University of Oxford), Violetta Steeples (Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence Oxford, University of Oxford), Amar J. Azad (Institute of Cardiovascular Sciences, University of Birmingham), Evie Singer (Institute of Cardiovascular Sciences, University of Birmingham), Jasmeet S. Reyat (Institute of Cardiovascular Sciences, University of Birmingham), Frantisek Galatik (Department of Physiology, Faculty of Science, Charles University, Czech Republic), Elisabeth Ehler (Randall Centre for Cell and Molecular Biophysics, King’s College London), Pauline Bennett (Randall Centre for Cell and Molecular Biophysics, King’s College London), Jacinta I. Kalisch-Smith (Department of Physiology, Anatomy and Genetics, University of Oxford), Duncan B. Sparrow (Department of Physiology, Anatomy and Genetics, University of Oxford), Benjamin Davies (Transgenic Core, Wellcome Centre for Human Genetics, University of Oxford), Kristina Djinovic-Carugo (Department of Structural and Computational Biology, Max Perutz Labs, University of Vienna), Mathias Gautel (School of Basic and Medical Biosciences, British Heart Foundation Centre of Research Excellence, King’s College London), Hugh Watkins (Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence Oxford, University of Oxford), Katja Gehmlich (Institute of Cardiovascular Sciences, University of Birmingham)

Availability: http://data.europeana.eu/aggregation/europeana/1300/https___phaidra_univie_ac_at_o_2072361

A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy.

Authors: Houman Ashrafian, Louise Docherty, Vincenzo Leo, Christopher Towlson, Monica Neilan, Violetta Steeples, Craig A Lygate, Tertius Hough, Stuart Townsend, Debbie Williams, Sara Wells, Dominic Norris, Sarah Glyn-Jones, John Land, Ivana Barbaric, Zuzanne Lalanne, Paul Denny, Dorota Szumska, Shoumo Bhattacharya, Julian L Griffin, Iain Hargreaves, Narcis Fernandez-Fuentes, Michael Cheeseman, Hugh Watkins, T Neil Dear

Source: PLoS Genetics, Vol 6, Iss 6, p e1001000 (2010)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20585624/pdf/?tool=EBI; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/cf53f2f145ef4de89e57e33888a3702d