A murine model of hnRNPH2-related neurodevelopmental disorder reveals a mechanism for genetic compensation by Hnrnph1

Authors: Ane Korff, Xiaojing Yang, Kevin O’Donovan, Abner Gonzalez, Brett J.W. Teubner, Haruko Nakamura, James Messing, Fen Yang, Alexandre F. Carisey, Yong-Dong Wang, Tushar Patni, Heather Sheppard, Stanislav S. Zakharenko, Yuh Min Chook, J. Paul Taylor, Hong Joo Kim

Source: The Journal of Clinical Investigation, Vol 133, Iss 14 (2023)

Subject Terms: Neuroscience, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1558-8238

Access URL: https://doaj.org/article/fa138194ad644570a89384252f1d094a

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Authors: Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R. Hammans, A. Reghan Foley, Charlotte M. Fare, Alice F. Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G. O’Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T. Zaharieva, Lauren Brady, Ying Hu, Thomas E. Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E. French, Andriy Shatillo, F. Lucy Raymond, Tobias B. Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B. Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A. Tarnopolsky, James Shorter, Carsten G. Bönnemann, J. Paul Taylor

Source: Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)

Subject Terms: Science

File Description: electronic resource

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

Access URL: https://doaj.org/article/43f9513e8b2941959cf7d7957b2785b1

Probing microstructural differences that manifest in human blood after taking aspirin using thixo-elasto-visco-plastic modeling and series of physical processes

Authors: Matthew Armstrong, Erin Milner, Dorian Bailey, Andre Pincot, Thomas Brown, Lam Nguyen, Kevin O’Donovan, Chi Nguyen, Trevor Corrigan

Source: AIP Advances, Vol 11, Iss 11, Pp 115226-115226-19 (2021)

Subject Terms: Physics, QC1-999

File Description: electronic resource

Relation: https://doaj.org/toc/2158-3226

Access URL: https://doaj.org/article/1215152b115b4e1698f2214a87fa748a

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

Authors: Danique Beijer, Hong Joo Kim, Lin Guo, Kevin O’Donovan, Inès Mademan, Tine Deconinck, Kristof Van Schil, Charlotte M. Fare, Lauren E. Drake, Alice F. Ford, Andrzej Kochański, Dagmara Kabzińska, Nicolas Dubuisson, Peter Van den Bergh, Nicol C. Voermans, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Devon Bonner, Jacinda B. Sampson, Matthew T. Wheeler, Anahit Mehrabyan, Steven Palmer, Peter De Jonghe, James Shorter, J. Paul Taylor, Jonathan Baets

Source: JCI Insight, Vol 6, Iss 14 (2021)

Subject Terms: Genetics, Neuroscience, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/2379-3708

Access URL: https://doaj.org/article/47cf72fa59a4478a90634b78aa5718fd

THE LIFE OF KEVIN O'DONOVAN

Authors: KEVIN O'DONOVAN

Source: Sunday Times, The. 12/03/2023, p5-5. 1.

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