Results 131 to 140 of about 127,159 (238)

Molecular characterization of CD36 deficiency in blood donors of Middle Eastern and African origin reveals transcript‐level defects beyond genomic variants

Transfusion, EarlyView.
Abstract Background The increasing diversity of blood donor populations has created new challenges for transfusion services worldwide. The identification of donors lacking relevant high‐prevalence antigens is becoming increasingly important to ensure compatible blood products for alloimmunized patients and to support the development of rare donor ...
Sarah Petermann, Inga Stellmacher, Brigitte K. Flesch, Tanja Rehling, Irina Häcker, Marc F. Schetelig, Alexander Carbol, Lambros Kordelas   +7 more
wiley   +1 more source

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

Hitting Coronaviruses Where It Hurts: Antiviral Strategies Targeting Viral Proteins

ChemMedChem, Volume 21, Issue 19, 14 October 2026.
Viral proteins represent key vulnerabilities in human coronaviruses (HCoVs). This review outlines inhibitors targeting spike (S), main protease (Mpro), papain‐like protease (PLpro), and RNA‐dependent RNA polymerase (RdRp), mapping chemically diverse strategies that disrupt entry and replication, and provides an integrated view of current candidates ...
Álvaro de la Cruz‐Potenciano, Miguel Maldonado, María‐José Camarasa, Sonia de Castro   +3 more
wiley   +1 more source

Exon skipping therapy for dystrophic epidermolysis bullosa [PDF]

, 2018
Dystrofische epidermolysis bullosa (DEB) is een erfelijke blaarziekte, ook wel vlinderziekte genoemd, die wordt veroorzaakt door mutaties in het COL7A1 gen.
Bremer, Jeroen; id_orcid, Bremer, Jeroen
core   +14 more sources

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, Isabella Pfundt, 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   +123 more
wiley   +1 more source

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

Annals of Neurology, Volume 100, Issue 4, Page 850-866, October 2026.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto, Michael Bonomo, Brianna S. Nelthrope, Benjamin D. Carr, Emma Palmer, Mariana Sierra, Ilkim Erturk, David Peppercorn, Eleonor Cox, Tiare K. Vasconcellos, Henry L. Paulson, Hannah K. Shorrock, Sharan R. Srinivasan   +12 more
wiley   +1 more source

MicroRNA–mRNA Networks in Skeletal Muscle of Tailored Pig Models for Dystrophinopathies

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 5, October 2026.
ABSTRACT Background Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X‐linked dystrophinopathies caused by mutations in the dystrophin (DMD) gene. A common DMD‐causing mutation in humans is exon 52 deletion (DMDΔ52), which disrupts the reading frame and abolishes dystrophin expression.
Sarah Reschke, Alexander Graf, Frieder Hadlich, Florian Jaudas, Thomas Fröhlich, Michael Stirm, Nikolai Klymiuk, Stefan Krebs, Eckhard Wolf, Asghar Ali   +9 more
wiley   +1 more source

From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.

PLoS Genetics
Pathogenic variants in the OCA2 gene result in oculocutaneous albinism. In humans and several other mammalian species, OCA2 is transcribed into two coding mRNAs, a major transcript that encodes the full-length protein and a minor transcript that skips in-
Elina Mercier, David-Alexandre Trégouët, Sébastien Campagne, Vincent Michaud, David J Green, Shahram Mesdaghi, Orane Le Gallais, Orphée Jouannigot-Castano, Daniel J Rigden, Catherine Estay-Ahumada, David Hicks, Panagiotis I Sergouniotis, Benoit Arveiler, Sophie Javerzat   +13 more
doaj   +1 more source

Conserved and Tissue‐Specific RNA and Protein Cargos of Small Extracellular Vesicles From 120 Tissue Sites Across 34 Organs in a Single Pig

Journal of Extracellular Vesicles, Volume 15, Issue 10, October 2026.
A whole‐body map of sEVs from a single pig, including 133 samples spanning 10 systems, revealed striking tissue‐specific heterogeneity in yield. Importantly, a conserved core cargo set comprising candidate sEV markers (ACTG1, CFL1, and ANXA2), RNA‐binding proteins, the let‐7 miRNA family, and ferritin genes was defined from 105,409 (88.6% full‐length ...
Naixiang Yu, Jinxiu Liu, Chenliang Lai, Siyi Liu, Jiacheng Wei, Jiahong Zhong, Sanya Xiong, Qingjie Zeng, Junwu Ma, Zhou Zhang, Zhiyan Zhang   +10 more
wiley   +1 more source

Functional validation of driver mutation‐specific uveal melanoma biomarkers: role of COL9A3 in cancer cell plasticity

The Journal of Pathology, Volume 270, Issue 2, Page 226-240, October 2026.
Abstract Uveal melanoma (UM) is a deadly ocular malignancy with well‐described genetic alterations that predict disease outcome. However, our current understanding of the biological underpinnings of high‐risk uveal melanoma progression remains relatively limited. Using RNA expression profiles from 250 patients with UM, we identified 12 novel biomarkers
QCC van den Bosch, RM Verdijk, H Fadlelseed, TPP van den Bosch, S Owens, S Kennedy, E Kilic, E Brosens   +7 more
wiley   +1 more source