Results 201 to 210 of about 3,878,610 (315)

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

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation. [PDF]

Am J Hum Genet
Thakur R, Xu M, Thornock AM, Yon J, Anyaso-Samuel S, Lauss M, Rehling T, Bui-Raborn L, Sowards H, Duncan G, Jessop L, Myers T, Chari R, Long E, Funderburk K, Yin J, Hennessey R, Hsieh E, Levin H, Machiela MJ, Zhang T, Jönsson G, Bishop DT, Newton-Bishop J, Nsengimana J, Iles MM, Landi MT, Law MH, Andresson T, Choi J, Zon LI, Shi J, Melanoma Meta-Analysis Consortium, Brown KM.   +33 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

GWAS and Candidate Gene Prediction of Elemental Accumulation Traits in Rice Using a Multiparental Population. [PDF]

Rice (N Y)
Zhang Q, Furuta T, Kashihara K, Ogawa D, Yonemaru J, Ma JF, Yamamoto T.   +6 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 analysis of candidate gene expression in Asian atopic dermatitis and psoriasis: identification of shared and distinct molecular features. [PDF]

Front Med (Lausanne)
Kim HL, Kim DE, Zhang K, Kim SM, Kim SH, Jung YW, Bischof N, Choi J, Kim TG, Park CO.   +9 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

Integrative MRI and Genomics Analyses Prioritize <i>PACSIN1</i> as a Candidate Gene for Cerebellar Ataxia in Border Collies. [PDF]

Animals (Basel)
Jin DJ, Jiang SC, Li JX, Liu YH, Zhou BW, Zhang YP.   +5 more
europepmc   +1 more source

Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Advancements in disease‐modifying therapies for spinocerebellar ataxia Type 3 (SCA3) underscore the need for robust biomarkers to monitor disease progression and evaluate treatment efficacy. Although motor phenotypes have been well characterized, less is known about non‐motor and imaging‐based features across different disease stages.
Chun Li, Zhi‐Xian Ye, Xuan‐Yu Chen, Liang‐Liang Qiu, Zhi‐li Chen, Yu‐Sen Qiu, Wei Lin, Ru‐Ying Yuan, Xin‐Tong Yu, Chun‐Yu Huang, Xin‐Yuan Chen, Min‐Ting Lin, Jian‐Ping Hu, Wan‐Jin Chen, Ning Wang, Shao‐Bo Yao, Shi‐Rui Gan, Ying Fu   +17 more
wiley   +1 more source

Integrative Multi-Omics Mendelian Randomization Identifies BLMH as a Keratinocyte-Enriched Protective Candidate Gene and Potential Therapeutic Target in Psoriasis. [PDF]

J Inflamm Res
Shen R, Ran B, Liu J, Li X, Cao H, Liu Q, Liang B, Xie M, Hou J, Gao J.   +9 more
europepmc   +1 more source