Results 231 to 240 of about 2,339,539 (318)

Troponin T and Neurofilament Light Chain Levels as Complementary Biomarkers of Disease Accumulation and Aggressiveness in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a clinically heterogeneous neurodegenerative disease requiring reliable biomarkers to improve patient stratification and trial design. While serum neurofilament light chain (sNfL) reflects neuroaxonal stress and disease aggressiveness, troponin T (TnT) may capture complementary aspects of ...
Julia Sellin, Sofia Waldorf, Janina von der Gablentz, Torsten Grehl, Huelya Nazlican, Thomas Meyer, Julian Grosskreutz, Patrick Weydt, Sarah Bernsen   +8 more
wiley   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

ATF4 coordinates amino acid and nucleotide synthesis with selective protein translation to ensure proper DNA replication timing in leukemia cells. [PDF]

Nat Commun
Huhn JM, Valin L, Basse M, Sokei J, Gabriel N, Martinez E, Kanefsky JS, Stransky S, Dorrance A, Garzon R, Di Marcantonio D, Skorski T, Goldman AR, Tang HY, Cortellazzi S, di Martino O, Krais J, Sidoli S, Ferraro F, Wiest DL, Sykes SM.   +20 more
europepmc   +1 more source

CSF Cytokine Network Organization Predicts Progression Independent of Relapse and MRI Activity in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progression independent of relapse activity is a major determinant of long‐term disability in multiple sclerosis, but its immunopathologic basis remains incompletely understood. We investigated whether relapse‐independent progression in radiologically stable relapsing–remitting multiple sclerosis is associated with distinct ...
Antonio Bruno, Matteo Conti, Ettore Dolcetti, Federica Azzolini, Angela Borrelli, Roberta Fantozzi, Mario Stampanoni Bassi, Giovanni Galifi, Giuseppe Maccarrone, Luca Montaguti, Marco Cervigni, Maddalena Dal Pozzo, Roberto Furlan, Annamaria Finardi, Girolama Alessandra Marfia, Marco Salvetti, Antonella Conte, Fabio Buttari, Diego Centonze, Luana Gilio   +19 more
wiley   +1 more source

Autosomal Type IV Collagen Genes Display Sex Differences in Genetic Risk for Hematuria. [PDF]

Kidney Int Rep
Lona-Durazo F, Dinsmore IR, McNulty MT, Sampson MG, Forest L, Mirshahi T, Chang AR, Paterson AD, Barua M, Gagliano Taliun SA.   +9 more
europepmc   +1 more source

Evaluation of Dried Plasma Spot‐Based Quantification of Glial Fibrillary Acidic Protein as a Disease‐Associated Biomarker in Neuromyelitis Optica Spectrum Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the diagnostic accuracy of glial fibrillary acidic protein (GFAP) measured in dried plasma spots versus conventional plasma‐ and serum‐GFAP testing for assessment of disease severity in aquaporin‐4 immunoglobulin G–positive neuromyelitis optica spectrum disorder (AQP4‐IgG+ NMOSD).
Felix Wohlrab, Evelyn Alvarez, Roua Hamdi, Bingqing Zhang, Hayeun Ji, Niyati Jhaveri, Patrick Schindler, Pedro Sanchez, Pia S. Sperber, Tanja Schmitz‐Hübsch, Frederike C. Oertel, Nisa Vorasoot, Najib Kissani, Falko Böhringer, Jens Kuhle, Anne‐Katrin Pröbstel, Xiao‐Jun Ma, Péter Körtvelyessy, Patrick Waters, Friedemann Paul   +19 more
wiley   +1 more source

Genetically informed prioritization of immune checkpoint-associated genes in head and neck cancer highlights HGF and AKT1. [PDF]

Funct Integr Genomics
Zheng M, Zhu H, Kong J, Zhang L.
europepmc   +1 more source

Safety and Efficacy of GLP‐1 Receptor Agonists in Adults With Epilepsy, Obesity, and Type 2 Diabetes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Managing obesity in patients with epilepsy is complicated by the weight‐gaining properties of essential antiseizure medications (ASMs) such as valproate and pregabalin. We evaluated the safety and efficacy of initiating glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) in this population.
Hyoshin Son, Inyoung Hwang, Sang Won Lee, Yun Kim   +3 more
wiley   +1 more source

Ancestry-specific TWAS refines type 2 diabetes GWAS loci in disease-relevant tissues

Pagnuco I, Eyre S, Rattray M, Morris AP.
europepmc   +1 more source

Proteomic Pathways Linking Type 2 Diabetes Genetic Clusters to Cardiovascular Diseases: A Network Mendelian Randomisation Study. [PDF]

Diabetes Obes Metab
Liao S, Sung GCY, Liang Y, Li C, Au Yeung SL.   +4 more
europepmc   +1 more source