Results 101 to 110 of about 11,016,750 (197)

The Comprehensive Live Cell‐Based Cytotoxicity Assay for Monitoring Disease Activity and Guiding Rescue Therapy in Acute Attacks of NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a devastating neurological disease that lacks serological biomarkers that can accurately reflect disease activity. We established a live cell‐based assay (LCBA) using serum with endogenous complement to quantify the overall cytotoxicity, offering a novel functional tool for monitoring
Xiaona Xu, Jie Ding, Yupeng Du, Guibao Luo, Jinming Li, Rui Liu, Xiaoyi Xu, Xiao Li, Minshu Li, Wei Jiang, Chunsheng Yang   +10 more
wiley   +1 more source

Boundary‐Dependent Sleep–Wake Dysregulation in Idiopathic Hypersomnia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Idiopathic hypersomnia (IH) presents with excessive daytime sleepiness (EDS) despite apparently preserved nocturnal sleep, challenging traditional models of hypersomnolence based on sleep loss or fragmentation. We aimed to test the hypothesis that EDS in IH reflects excessive stabilization of the sleep state, consistent with ...
Samantha Mombelli, Karine Lacourse, Hélène Blais, Anne‐Sophie Deshaies‐Rugama, Cynthia Thompson, Alex Desautels, Jacques Montplaisir, Milan Nigam, Christophe Moderie, Boshra Khajehpiri, Catherine Duclos, Jean Marc Lina, Julie Carrier, Nadia Gosselin   +13 more
wiley   +1 more source

MAMMALIAN TRANSIENT RECEPTOR POTENTIAL TRPA1 CHANNELS: FROM STRUCTURE TO DISEASE

, 2019
The transient receptor potential ankyrin (TRPA) channels are Ca2+-permeable nonselective cation channels remarkably conserved through the animal kingdom.
Boonen, Brett, Brett Boonen, Yeranddy A. Alpizar, Startek, Justyna B., Alvarez-Collazo, Julio, Alpizar, Yeranddy A., Julio Alvarez-Collazo, Talavera, Karel, Bernd Nilius, Naert, Robbe, Alicia Sanchez, Karel Talavera, Nilius, Bernd, AGUIAR ALPIZAR, Yeranddy, Robbe Naert, Alpizar, Yeranddy A, Justyna B. Startek, Startek, Justyna B, Sanchez, Alicia   +18 more
core   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

TRPML1 gating modulation by allosteric mutations and lipids

eLife
Transient Receptor Potential Mucolipin 1 (TRPML1) is a lysosomal cation channel whose loss-of-function mutations directly cause the lysosomal storage disorder mucolipidosis type IV (MLIV).
Ninghai Gan, Yan Han, Weizhong Zeng, Youxing Jiang   +3 more
doaj   +1 more source

Papel dos receptores cininérgicos na neuropatia periférica induzida pelo quimioterápico paclitaxel [PDF]

, 2013
Tese (doutorado) - Universidade Federal de Santa Catarina, Centro de Ciências Biológicas, Programa de Pós-Graduaçao em Farmacologia, Florianópolis, 2013A neuropatia periférica induzida por quimioterápicos (NPIQ) é uma das principais causas de dor ...
Costa, Robson da
core  

Real‐World Safety and Effectiveness of JAK Inhibitors in Systemic Sclerosis: A Propensity‐Matched Study From the EUSTAR Cohort

Arthritis Care &Research, EarlyView.
Objective JAK inhibitors (JAKi) have shown promising effects in early‐phase studies of systemic sclerosis (SSc). We aimed to assess the safety and explore the effectiveness of JAKi compared to conventional immunosuppressants in SSc. Methods A longitudinal retrospective study of the European Scleroderma Trials and Research Group (EUSTAR) cohort was ...
Stefano Di Donato, Marie‐Elise Truchetet, Marco Minerba, Oliver Distler, Juan José Alegre Sancho, Yolanda Braun‐Moscovici, Christina Bergmann, Petros Sfikakis, Jeska K. de Vries‐Bouwstra, Murray Baron, Silvia Bellando‐Randone, Lorenzo Dagna, Christopher P. Denton, Madelon C. Vonk, Vanessa Smith, Ivan Castellvi, Gabriela Riemekasten, Andra Balanescu, Masataka Kuwana, Maria De Santis, Kamal Solanki, Anastas Batalov, Vahan Mukuchyan, Marco Matucci‐Cerinic, Yannick Allanore, Francesco Del Galdo, Michael Hughes, EUSTAR Collaborators   +27 more
wiley   +1 more source

Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki, Alireza Amindarolzarbi, Tsion Abdi, John Clarke, Michael Hughes, Ami A. Shah, Zsuzsanna H. McMahan   +6 more
wiley   +1 more source

Transient Receptor Potential Channel Polymorphisms Are Associated with the Somatosensory Function in Neuropathic Pain Patients [PDF]

, 2012
Transient receptor potential channels are important mediators of thermal and mechanical stimuli and play an important role in neuropathic pain. The contribution of hereditary variants in the genes of transient receptor potential channels to neuropathic ...
Cascorbi, Ingolf, Zhu, Jihong, Scherens, Andrea, Ufer, Mike, Gierthmühlen, Janne, Magerl, Walter, Berthele, Achim, Tölle, Thomas R., Maier, Christoph, Wasner, Gunnar, Rolke, Roman, Maihöfner, Christian, Baron, Ralf, Flor, Herta, Üçeyler, Nurcan, Huge, Volker, Richter, Helmut, Binder, Andreas, Treede, Rolf-Detlef, May, Denisa, Faltraco, Frank, Haenisch, Sierk   +21 more
core  

Microvascular Damage Is Associated With Carotid Wall Structural Changes in Systemic Sclerosis: A Capillaroscopy and Ultrasound‐Based Observational Study

Arthritis Care &Research, EarlyView.
Objective Systemic sclerosis (SSc) is characterized by cardiovascular risk excess not fully explained by traditional factors. Whether the severity of microvascular damage correlates with structural subclinical atherosclerosis remains unclear. We investigated the relationship between nailfold videocapillaroscopy (NVC) abnormalities and carotid ...
Eugenio Capparelli, Luca Clerici, Francesco Lapia, Giusy C. Moltisanti, Eleonora Zaccara, Greta Pellegrino, Daniela Bompane, Francesca Capelli, Letizia Ferrami, Laura Castelnovo, Antonio Tamburello, Maria Sole Chimenti, Paola Faggioli, Antonino Mazzone   +13 more
wiley   +1 more source