Results 151 to 160 of about 690,878 (269)

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

Identification of candidate genes and regulatory mechanisms for thick shank phenotype of Dong Tao chickens. [PDF]

Poult Sci
Ren X, Zhao X, Jiang X, Zuo D, Chen T, Wang G, Zhang X, Qu L.   +7 more
europepmc   +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

Candidate Genes for Non-Syndromic Pediatric Cataracts. [PDF]

Clin Ophthalmol
Rossen JL, Drackley A, Goetsch Weisman A, Ing A, Bohnsack BL.   +4 more
europepmc   +1 more source

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

Comparative Transcriptomic Analyses Identify Candidate Genes for Convergent Reproductive Shifts in a Bimodal Viviparous Amphibian. [PDF]

Mol Ecol
Mulder KP, Lourenço A, Gomez-Mestre I, Carneiro M, Buckley D, Martínez-Solano I, Fleischer RC, Bell RC, Velo-Antón G.   +8 more
europepmc   +1 more source

Cerebrospinal Fluid Over Plasma Links Analytes to Cognitive Decline in Older Adults at Risk for Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To identify inflammatory analytes in cerebrospinal fluid (CSF) and plasma associated with cognitive decline in cognitively normal (CN) older adults at risk for Alzheimer's disease (AD). Methods In a longitudinal study of 118 CN older adults (65–80 years, 54% APOE ε4, 26% preclinical AD), 1331 CSF and 1501 plasma analytes were ...
Jagan A. Pillai, Audrey Zhu, Chunxuan Ma, Ming Wang, Yifan Yang, Lynn M. Bekris, Maria Khrestian, Frank P. DiFilippo, Mikhail Nasrallah, Aaron Burberry, James B. Leverenz, Yuan Hou, Feixiong Cheng, Stephen M. Rao   +13 more
wiley   +1 more source

Genome-Wide Association Study Reveals Candidate Genes Associated With the Intensity of Green Eggshell Color in Chickens. [PDF]

Anim Genet
Zhou Y, Wu S, Zhang J, Cao X, Zhang C, Chen S, Bao H, Li J.   +7 more
europepmc   +1 more source

From Adult to Adolescent: Alignment in Clinical Trials and Outcomes in Axial Spondyloarthritis

Arthritis Care &Research, EarlyView.
Spondyloarthritis (SpA) is a group of chronic inflammatory diseases encompassing axial and peripheral forms, with up to 20% of patients developing symptoms before age 16. Despite this substantial pediatric burden, treatment options for juvenile‐onset SpA (JSpA), particularly those with axial disease (axJSpA), remain limited.
Pamela F. Weiss, Judith A. Smith, Robert A. Colbert, Erin Treemarcki, Michael H. Weisman, Walter P. Maksymowych, Hermine I. Brunner, for the Childhood Arthritis and Rheumatology Research Alliance, Spondyloarthritis Research and Treatment Network, and Pediatric Rheumatology Collaborative Study Group Advisory Council   +9 more
wiley   +1 more source

Rare germline variants in canonical and candidate genes in apparently sporadic bilateral primary aldosteronism. [PDF]

J Endocr Soc
Santana LS, Alves-Fernandes DK, Lima Sobrinho JAB, Freitas-Castro F, Rossetti LB, Okubo J, Fagundes GFC, Kawahara EZ, Mendes TS, Bortolotto LA, Pio-Abreu A, Silva GV, Drager LF, Latronico AC, Almeida MQ.   +14 more
europepmc   +1 more source