Results 251 to 260 of about 5,500,427 (306)

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

A High-Quality Haplotype-Resolved Reference Genome for Drakensberger Cattle (Bos taurus indicus/taurus) Achieved Through Trio-Binned Long-Read Sequencing. [PDF]

Sci Data
Mapholi N, Tshilate T, Smith R, Hlongwane N, Nesengani LT.   +4 more
europepmc   +1 more source

The Price of Precision: A Critical Review of Molecular Diagnostics in Glioma, From Guidelines to Global Disparities

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas have undergone a profound redefinition over the past decade, transitioning from morphology‐based entities to biologically coherent diseases defined by molecular alterations. The 2021 WHO Classification of Tumors of the Central Nervous System and its 2022 update formalize this shift, establishing integrated diagnosis as the global ...
Maria Guarnaccia, Sebastiano Cavallaro
wiley   +1 more source

A chromosome-level reference genome of the surf parrotfish (Scarus rivulatus). [PDF]

Sci Data
Liang Y, Pan J, Xian L, Zhu K, Guo H, Liu B, Zhang N, Zhang D.   +7 more
europepmc   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Hybrid sequencing reveals incompleteness of the H37Rv reference genome and highlights lineage-specific genomic divergence in <i>Mycobacterium tuberculosis</i>. [PDF]

Microb Genom
Chen H, Li X, Chen R, Zhang M, Zhu Y, Wu K, Lu Y, Wang X, Che Y, Liu Z.   +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

From Permits to Samples: Addressing Key Challenges for High-Quality Reference Genome Generation in Europe. [PDF]

Mol Ecol Resour
Reichel K, Pohjoismäki J, Astrin JJ, Böhne A, Bortoluzzi C, Bužan E, Del Campo J, Ciofi C, Di-Nizo CB, Divakar PK, Greve C, Hampl V, Hilgers L, Laine VN, Leonard JA, Lozano-Fernandez J, Lukić Bilela L, Mazzoni CJ, McCartney AM, Melo-Ferreira J, Monteiro R, Oomen RA, Pavlek M, Pimenta J, Rindos M, Seehausen O, Tarieiev A, Tomasello S, Vinnere Pettersson O, Waterhouse RM, Weber AA, Zinenko O, de Guttry C.   +32 more
europepmc   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

Arthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source

A reference genome for the rough limpet Lottia Scabra, an intertidal species from the northeastern Pacific. [PDF]

J Hered
Wutthituntisil N, Pedraza-Marrón CDR, DeBiasse MB, Escalona M, Fairbairn C, Marimuthu MPA, Nguyen O, Dawson MN.   +7 more
europepmc   +1 more source