Results 211 to 220 of about 1,383,473 (237)

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report. [PDF]

Front Genet, 2019
Gomes CP, Marins MM, Motta FL, Kyosen SO, Curiati MA, D'Almeida V, Martins AM, Pesquero JB.   +7 more
europepmc   +1 more source

A click-flipped enzyme substrate boosts the performance of the diagnostic screening for Hunter syndrome. [PDF]

Chem Sci, 2020
Schwarz M, Skrinjar P, Fink MJ, Kronister S, Mechtler T, Koukos PI, Bonvin AMJJ, Kasper DC, Mikula H.   +8 more
europepmc   +1 more source

“Is This Edible Anyway?” The Impact of Culture on the Evolution (and Devolution) of Mushroom Knowledge

Topics in Cognitive Science, EarlyView.
Abstract Mushrooms are a ubiquitous and essential component in our biological environment and have been of interest to humans around the globe for millennia. Knowledge about mushrooms represents a prime example of cumulative culture, one of the key processes in human evolution.
Andrea Bender, Åge Oterhals
wiley   +1 more source

Prebiotic Bimuno® GOS reduces illness symptoms and supports gut barrier function and immunity after intermittent exercise in the heat

Experimental Physiology, EarlyView.
Abstract Exercise in hot climates increases the risk of gastrointestinal (GI) disruption and respiratory illness. We investigated the effects of a 42 day prebiotic intervention on markers of intestinal epithelial injury, GI discomfort and immunity following football specific exercise in the heat and daily upper respiratory illness.
Connor J. Parker, Samantha J. Abbott, Luke R. Butterfield, Kirsty A. Hunter, Michael A. Johnson, Graham R. Sharpe, Neil C. Williams   +6 more
wiley   +1 more source

Changes in motor unit conduction velocity after unilateral lower‐limb suspension and active recovery are correlated with muscle ion channel gene expression

Experimental Physiology, EarlyView.
Abstract The effects of muscle disuse on the propagation of action potentials along motor unit (MU) muscle fibres, a key process for effective muscle activation and force generation, remain poorly understood. The aim of this study was to investigate changes in action potential propagation and to identify biological factors influencing these changes ...
Giacomo Valli, Fabio Sarto, Francesco Negro, Elena Monti, Giuseppe Sirago, Matteo Paganini, Sandra Zampieri, Martino V. Franchi, Andrea Casolo, Julián Candia, Luigi Ferrucci, Marco V. Narici, Giuseppe De Vito   +12 more
wiley   +1 more source

Lifestyle modification in atrial fibrillation: Mechanisms, phenotypes and ablation outcomes

Experimental Physiology, EarlyView.
Abstract Atrial fibrillation (AF) is the most prevalent sustained cardiac arrhythmia and is associated with significant morbidity, mortality and healthcare utilization. Catheter ablation is increasingly used as a rhythm‐control intervention for patients with symptomatic paroxysmal and persistent AF, yet recurrence rates remain suboptimal.
Konstantinos Grigoriou, Paschalis Karakasis, Panagiotis Theofilis, Konstantinos Pamporis, Panayotis K. Vlachakis, Anastasios Apostolos, Nikolaos Ktenopoulos, Barbara Fyntanidou, Efstratios Karagiannidis, Dimitrios Patoulias, Antonios P Antoniadis, Nikolaos Fragakis   +11 more
wiley   +1 more source

Plant‐protein supplementation improves thermoregulatory responses and ameliorates markers of intestinal damage during exercise in the heat

Experimental Physiology, EarlyView.
Abstract Exercise in the heat often causes gastrointestinal (GI) disturbances, which can impair performance. Single amino acid supplementation can attenuate gut damage and enhance exercise tolerance; however, the effectiveness of innate amino acid blends from plant‐based proteins remains underexplored.
Robyn Aitkenhead, Mark Waldron, Gillian E. Conway, Katy Horner, Shane M. Heffernan   +4 more
wiley   +1 more source

Cardiovascular Toxicity Associated With Bispecific Antibodies in Hematological Malignancies: A Comprehensive Pharmacovigilance Analysis

American Journal of Hematology, Volume 101, Issue 10, Page 2546-2556, October 2026.
ABSTRACT Cardiovascular adverse events (CVAEs) associated with bispecific T‐cell engaging antibodies (BsAbs) have not been systematically investigated across approved agents. In this disproportionality analysis of FAERS (December 2014–September 2025), reports listing BsAbs as the primary suspected drug (n = 7647) were compared with all other drugs in ...
Malak Munir, Ahmed Sayed, Dae Hyun Lee, Sanam Ghazi, Mustafa M. Houmsse, Saad Badat, Abdul Moeed, Avirup Guha, Daniel Addison, Narendranath Epperla   +9 more
wiley   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2338-2344, October 2026.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs

The Anatomical Record, Volume 309, Issue 10, Page 2698-2724, October 2026.
Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille, Kyla Beguesse, Ewan Wolff, Clemens Zinner, Patrick Asbach, François Clarac, Florian Witzmann   +6 more
wiley   +1 more source