Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes

Autor: Elisabetta Flex, Shahad Albadri, Francesca Clementina Radio, Serena Cecchetti, Antonella Lauri, Manuela Priolo, Marta Kissopoulos, Giovanna Carpentieri, Giulia Fasano, Martina Venditti, Valentina Magliocca, Emanuele Bellacchio, Carrie L Welch, Paolo C Colombo, Stephanie M Kochav, Richard Chang, Rebekah Barrick, Marina Trivisano, Alessia Micalizzi, Rossella Borghi, Elena Messina, Cecilia Mancini, Simone Pizzi, Flavia De Santis, Marion Rosello, Nicola Specchio, Claudia Compagnucci, Kirsty McWalter, Wendy K Chung, Filippo Del Bene, Marco Tartaglia

Publikováno v: Human Molecular Genetics. 32:473-488

Kinesins are motor proteins involved in microtubule (MT)-mediated intracellular transport. They contribute to key cellular processes, including intracellular trafficking, organelle dynamics and cell division. Pathogenic variants in kinesin-encoding g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ce735168d1071ffa9c3db6983965726
https://doi.org/10.1093/hmg/ddac213

Contributors

Autor: Catherine E.M. Aiken, Azita Amiri, Faith L. Anderson, Arthur Argenson, Anna Arita, Hrayr Attarian, Alison Berner, Vineet Bhandari, Vishwanath Bhat, Angelo Jose Goncalves Bos, Neil A. Bradbury, Meghan L. Bucher, Jan Burns, Ilaria Campesi, Arturo Casadevall, Hossein Chiti, Dorte M. Christiansen, Beth Coad, Dolores Corella, Ellie J. Coromilas, Romina Garcia de leon, Virginia Devi-Chou, Jocelyn Dicent, Mehmet Tevfik Dorak, Gillian Einstein, Harun Fajkovic, Ferric C. Fang, Liana Fattore, Anne Fausto-Sterling, Alireza Fazeli, Dov Feldberg, Roger B. Fillingim, Flavia Franconi, Karen H. Frith, Andreas M. Fritzen, Michika Fukui, Liisa A.M. Galea, Dan Gazit, Zulma Gazit, Donato Gemmati, Josephine Giblin, Marek Glezerman, Kasun Godakumara, Sydney Gram, Antonio Guillamon, Susanne B. Haga, Jessica A. Hennessey, Masakatsu Hihara, William V. Holt, Antonia Hufnagel, Hideki Iwaguro, Tannaz Jamialahmadi, Daphna Joel, Emil Jovanov, Natsuko Kakudo, Bente Kiens, Jin Kyung Kim, Sylvia Kirchengast, Stephanie M. Kochav, Suranga P. Kodithuwakku, L.M. Kok, Peter Koopman, Zoe Krut, Atsuyuki Kuro, Ryosuke Kuroda, Satoshi Kushida, Yunjia Lai, Bonnie H. Lee, Ana Lleo, Anne-Marie Lundsgaard, Adriana C. Maggi, Satoshi Matsushita, Margaret M. McCarthy, Alice Melloni, Maurizio Meloni, Gary W. Miller, Suresh Mishra, Toshihito Mitsui, Hiroshi Mizuno, R.G.H.H. Nelissen, Petr Nickl, Tatsuya Nomura, Sabine Oertelt-Prigione, Gabriela Guimaraes Oliveira-Zumda, Jose M. Ordovas, Negin Parsamanesh, Gadi Pelled, Andrei A. Puiu, M. Natasha Rajah, Doodipala Samba Reddy, Željko Reiner, Amirhossein Sahebkar, Yoshitomo Saita, Ibis Sánchez-Serrano, Reza Sari Motlagh, Ivanka Savic, Manuela Schmidinger, Caleb M. Schmidt, Michael A. Schmidt, Radislav Sedlacek, Angelo Serani, Fidaa Shaib, Shahrokh F. Shariat, Keshav K. Singh, Satoshi Sobajima, Dustin J. Sokolowski, Marla B. Sokolowski, Simón(e) D. Sun, Zhongxin Sun, Jihyun Sung, Linn Amanda Syding, Veena Taneja, Diethard Tautz, Lisa M. Thurston, Siobhan Tierney, Veronica Tisato, Morikuni Tobita, Jessica Tollkuhn, Masanori Tsubosaka, Valter Tucci, Carme Uribe, A. Van Noort, Mikhail Votinov, Reubs J. Walsh, Elaine Y. Wan, Leire Zubiaurre-Elorza

Publikováno v: Principles of Gender-Specific Medicine ISBN: 9780323885348

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ecb3833742d2c6524e411d2266f8fcf0
https://doi.org/10.1016/b978-0-323-88534-8.09993-4

Tafamidis and Incidence of Atrial Fibrillation in Transthyretin Amyloid Cardiomyopathy

Autor: Zachary P. Girvin, Austin O. Sweat, Stephanie M. Kochav, Mathew S. Maurer, Jose Dizon, Elaine Y. Wan, Angelo Biviano, Hasan Garan, Hirad Yarmohammadi

Publikováno v: JACC: Clinical Electrophysiology. 9:586-587

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9fb3d150eb6ecc992089540ae68a2531
https://doi.org/10.1016/j.jacep.2022.11.005

Effect of Ventricular Pacing on Morbidity in Adults After Fontan Repair

Autor: Emily Slater, Matthew J. Lewis, Stephanie M. Kochav, Marlon Rosenbaum, Jonathan D. Kochav, Noa Wassercug-Zemer

Publikováno v: The American Journal of Cardiology. 125:1263-1269

Implantation of a permanent pacemaker is a negative prognostic marker in patients with Fontan palliation; however, data delineating outcomes in adult patients with pacemaker requirements are lacking. We hypothesize that high ventricular pacing burden

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9823a4e2c40dc6f52cb237f0a189e597
https://doi.org/10.1016/j.amjcard.2020.01.026

Clinical and echocardiographic features of paradoxical low-flow and normal-flow severe aortic stenosis patients with concomitant mitral regurgitation

Autor: Jonathan Kochav, Nicholas Chew, William K.F. Kong, Benjamin Yong-Qiang Tan, Ching-Hui Sia, Edgar Lik Wui Tay, Stephanie M Kochav, Hui Wen Sim, Rebecca Teng, Kian Keong Poh, Tiong-Cheng Yeo, Jinghao Nicholas Ngiam

Publikováno v: The International Journal of Cardiovascular Imaging. 36:441-446

Mitral regurgitation (MR) coexists in a significant proportion of patients with severe aortic stenosis (AS), and portends inferior therapeutic outcomes. In severe AS, MR is thought to contribute to a low-flow state by decreasing forward stroke volume

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51f8dfa8524a11ca588fc6d61d0a79e5
https://doi.org/10.1007/s10554-019-01735-1