Results 201 to 210 of about 827,205 (291)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Genomic Prediction and Genome-Wide Association Analysis of Heat Tolerance for Milk Yield in Buffaloes Using a Reaction Norm Model. [PDF]

J Anim Breed Genet
Stefani G, Santana ML, El Faro L, Tonhati H.   +3 more
europepmc   +1 more source

Validation of a Genetic Risk Score Combined With Clinical Variables for Predicting Pulmonary Fibrosis in Early Rheumatoid Arthritis

Arthritis Care &Research, EarlyView.
Objective Pulmonary fibrosis (PF) is a severe extra‐articular manifestation of rheumatoid arthritis (RA). This study aimed to externally validate a genetic risk score (GRS) and a combined risk score (CRS) for predicting the risk of RA‐associated PF in an independent cohort of patients with early RA.
Mikael Brink, Austin Wheeler, Bryant R. England, Solbritt Rantapää‐Dahlqvist   +3 more
wiley   +1 more source

Analysis of candidate genes identified via genome-wide association analysis of sugar-related traits in maize kernels. [PDF]

Plant Genome
Lv D, Luo J, Liu S, Zheng R, Zhang A, Tong B, Zeng Q, Liu X, Luo H, Deng M.   +9 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

Large-scale genome-wide association analysis reveals candidate genes in yak body size traits. [PDF]

BMC Genomics
Zhao J, Li Z, Liu X, Liu Y, Yue B, Wang H, Zhang M, Peng W, Shu S, Wang G, Zhong J, Kangzhu Y, Yan X, Lan D, Wang J.   +14 more
europepmc   +1 more source

Biomimetic Nanovaccine Integrating Dendritic Cell Exosomes with Tumor Cell Membranes for Sustained Prophylaxis Against Glioblastoma

Advanced Functional Materials, EarlyView.
We have developed DEX/GM, an all‐natural, personalizable hybrid vaccine designed by coating dendritic cell‐derived exosomes (DEX) onto tumor cell membranes (GM) for sustained prophylaxis against glioblastoma (GBM). ABSTRACT Glioblastoma (GBM), one of the most aggressive and lethal brain tumors, remains incurable with a poor clinical prognosis.
Shanshan Li, Dongya Zhang, Shiyu Wang, Changhe Pang, Meng Zheng, Bingyang Shi, Yan Zou   +6 more
wiley   +1 more source

Differential genome-wide association analysis of schizophrenia and post-traumatic stress disorder identifies opposing effects at the <i>MAPT</i>/<i>CRHR1</i> locus. [PDF]

Front Genet
Cheng ZS.
europepmc   +1 more source

Poly(lactic‐co‐glycolic acid) Nanoparticles for IL‐12 Self‐Amplifying RNA Delivery in Glioblastoma Models

Advanced Functional Materials, EarlyView.
xxxx. ABSTRACT Glioblastoma (GBM) remains one of the most lethal brain cancers, with median survival rarely exceeding 15 months after diagnosis. Interleukin‐12 (IL‐12) is a potent immunostimulatory cytokine capable of reshaping the tumor microenvironment (TME), yet its clinical translation is hindered by systemic toxicity and short half‐life. RNA‐based
Fatima Hameedat, Johan Sebastian Lopez‐Parra, Willem M. H. Hoogaars, Emma Dijkstra, Cynthia Huang, Irafasha C. Casmil, Anna K. Blakney, Peter Olinga, Barbara Rothen‐Rutishauser, Hélder A. Santos, Alke Petri‐Fink, Flávia Sousa   +11 more
wiley   +1 more source

Genome wide association analysis for biomass related traits in common vetch (<i>Vicia sativa</i> L.). [PDF]

Front Plant Sci
Jin H, Zhang J, Dimtrov Y, Yang X, Du R, Wu YE, Chang D, Zhang R, Zhao H.   +8 more
europepmc   +1 more source