Results 131 to 140 of about 15,700 (254)

Osmolality (mosmol/kg H₂O) versus osmolarity (mosmol/L): applied physiology to improve patient safety. [PDF]

Eur J Med Res
Zander R, Ziegenfuß T, Sümpelmann R.
europepmc   +1 more source

Epilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids

Epilepsia, EarlyView.
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta, Morgan Robinson, Zhefu Que, Zaiyang Zhang, Karen V. Salazar‐Salazar, Hope Elizabeth Harlow, Vinayak Shankar, Seoyeon Hong, Muhan Wang, Conrad M. Otterbacher, Hina Kadono, Manasi Halurkar, Harish Kothandaraman, Nadia Atallah Lanman, Trang Nguyen, Kyle Wettschurack, Benjamin Zirkle, Layan Yunis, Ningren Cui, Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, William C. Skarnes, Chongli Yuan, Feng Guo, Megan Abbott, Yang Yang   +26 more
wiley   +1 more source

Genome-wide identification and solute selectivity of aquaporins in the sharpnose sevengill shark, Heptranchias perlo. [PDF]

Physiol Rep
Hidaka S, Nagashima A, Kato A.
europepmc   +1 more source

The effect of washing upon the resistance of erythrocytes to hypotonic solutions [PDF]

The Journal of Physiology, 1932
openaire   +2 more sources

Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis

Epilepsia, EarlyView.
Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx, Barbara Gravel, Julie Soblet, Benjamin Legros, Susana Ferrao Santos, Wim Van Paesschen, Estelle Rikir, Epi25 Collaborative, Siwei Chen, Zaid Afawi, Quratulain Zulfiqar Ali, Danielle M. Andrade, Mutluay Arslan, Simona Balestrini, Carmen Barba, Tobias Baumgartner, Betül Baykan, Nerses Bebek, Felicitas Becker, Caitlin A. Bennett, Ahmad Beydoun, Francesca Bisulli, Christian Bosselmann, S. Hande Caglayan, Laura Canafoglia, Barbara Castellotti, Francine Chassoux, I‐Jun Chou, Seo‐Kyung Chung, Patrick Cossette, Chantal Depondt, Orrin Devinsky, Dennis J. Dlugos, Viola Doccini, Colin A. Ellis, Thomas N. Ferraro, Lorenzo Ferri, Mark Fitzgerald, Francesco Fortunato, Elena Freri, Tania Giangregorio, Tracy A. Glauser, Aslı Gundogdu‐Eken, Namrata Gupta, Kevin Haas, Erin L. Heinzen, Christian Hengsbach, Olivia Hoeper, Michele Iacomino, Yushi Inoue, Lara Jehi, Symon M. Kariuki, Karl Martin Klein, Susanne Knake, Andreas Koupparis, Ioanna Kousiappa, Roland Krause, Martin Krenn, Heinz Krestel, Wolfram S. Kunz, Austin Lacey, Stephan Lauxmann, Stephanie L. Leech, Gaetan Lesca, David Lewis‐Smith, Calwing Liao, Laura Licchetta, Kuang‐Lin Lin, Tarja Linnankivi, Daniel H. Lowenstein, Colin H.T. Lui, Ida Manna, Paula Marques, Patrick May, Davide Mei, RaAaella Minardi, Barbara Mostacci, Lorenzo Muccioli, Bernd A. Neubauer, Terence J. O'Brien, Savvas S. Papacostas, Elena Parrini, Manuela Pendziwiat, Francesca Ragona, Mark I. Rees, Antonella Riva, Philippe Ryvlin, Andrea Salmon, Ilaria Sammarra, Marcello Scala, Ingrid E. ScheAer, Susanne Schubert‐Bast, Paolo Scudieri, Graeme J. Sills, Sanjay M. Sisodiya, Hannah Stamberger, Ulrich Stephani, Carlotta Stipa, Pasquale Striano, Adam Strzelczyk, Rainer Surges, Toshimitsu Suzuki, Mariagrazia Talarico, George A. Tanteles, Marian Todaro, Meng‐Han Tsai, Birute Tumiene, Dilsad Turkdogan, Luc Valton, Andreas van Baalen, Annalisa Vetro, Yvonne G. Weber, Sarah Weckhuysen, Peter Widdess‐Walsh, Samuel Wiebe, Randi von Wrede, Kazuhiro Yamakawa, Zuhal Yapıcı, Fritz Zimprich, Milena Zizovic, Gábor Zsurka, Benjamin M. Neale, Samuel F. Berkovic, Solve‐RD DITF‐EpiCARE, Marc Abramowicz, Nicholas Allen, Simona Balestrini, Tobias Bartolomaeus, Ravishankara Bellampalli, Katherine Benson, Francesca Bisulli, Christian Boßelmann, Susan Byrne, Laura Canafoglia, Evelina Carapancea, Barbara Castellotti, Gianpiero Cavalleri, Roberta Cilio, Norman Delanty, Christel Depienne, Chantal Depondt, Sarah Duerinckx, Zakaria Eddafir, Kornelia Ellwanger, Silvana Franceschetti, Elena Freri, Hamidah Ghani, Tiziana Granata, Marie Greally, Renzo Guerrini, Tobias B. Haack, Eva Hammar Bouveret, Michele Iacomino, Rami Jamra, Josua Kegele, Christian Korff, Roland Krause, Alma Küchler, Robert Lauerer‐Braun, Damien Lederer, Elsa Leitão, Holger Lerche, Gaëtan Lesca, David Lewis‐Smith, Laura Licchetta, Frédéric Masclaux, Patrick May, Davide Mei, Cyril Mignot, Charissa Millevert, Raffaella Minardi, Patrick Moloney, Hiltrud Muhle, Mary O. Reghan, Joohyun Park, Elena Parrini, Manuela Pendziwiat, Konrad Platzner, Johanna Pohl, Mary Sandrine, Marcello Scala, Sanjay Sisodiya, Noor Smal, Hannah Stamberger, Pasquale Striano, Roxane van Heurck, Christina Vosseler‐Wolf, David Webb, Sarah Weckhuysen, Federico Zara, Alec Aeby, Guillaume Smits, Chantal Depondt   +192 more
wiley   +1 more source

Osmotic pressure-induced calcium response states. [PDF]

FEBS Open Bio
Gao Z, Naruse K, Morimatsu M.
europepmc   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Severe respiratory syncytial virus bronchiolitis complicated by profound hyponatremia and seizures in an infant: a case report. [PDF]

AME Case Rep
Mikulić S, Kraljević D, Damjanović A, Prskalo M.   +3 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

A large-scale balloon model of confluent cells validates stress inference from geometry. [PDF]

NPJ Biol Phys Mech
Hall JK, Deng Y, Kontodimas K, Nia H, Varelas X, Lutchen KR, Bates J, Suki B.   +7 more
europepmc   +1 more source