Results 181 to 190 of about 1,215,985 (267)

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

Genetic dissection of the eggplant rhizosphere microbiome enables microbiome-assisted breeding. [PDF]

Hortic Res
Li Y, Li W, Gan G, Wang X, Wu Y, Xu Y, Jousset A, Wang Y, Shen Q, Jiang G, Wei Z.   +10 more
europepmc   +1 more source

β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations

Advanced Biology, Volume 9, Issue 3, March 2025.
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio, B. Spedicato, G. Corallo, A. Inguscio, M. Greco, D. Musarò, D. Vergara, A. F. Muro, G. De Sabbata, L. R. Soria, N. Brunetti Pierri, M. Maffia   +11 more
wiley   +1 more source

Genetic structure analysis of Glycyrrhiza species and identification of SNP-loci associated with secondary metabolites in G. glabra. [PDF]

BMC Genomics
Moghadam A, Karami A, Kellert B, Haghi R, Esmaeili H, Himmelbach A, Otto LG.   +6 more
europepmc   +1 more source

Air‐Pressure–Actuated Vibroacoustic Metamaterial With Tunable Bandgap: Design, Modeling, and Characterization

Advanced Engineering Materials, EarlyView.
This article presents the design, modeling, and characterization of air‐pressure–actuated programmable vibroacoustic metamaterials (PVAMM). The study focuses on leveraging air pressure to dynamically tune resonance frequencies for effective noise attenuation.
William Kaal, Michael M. Becker, Sarah C. L. Fischer   +2 more
wiley   +1 more source

Origin-dependent chemical profiles and quality differentiation of candied <i>Prunus mume</i>: Insights from metabolomics, GC-MS volatile profiling, and interpretable machine learning. [PDF]

Food Chem X
Liao JL, Xiao YX, Zhong JX, He YJ, Qian WZ, Chen JC, Guo JL, Gao S.   +7 more
europepmc   +1 more source

Field Report from Collaborative Research Center 1625: Heterogeneous Research Data Management Using Ontology Representations

Advanced Engineering Materials, EarlyView.
A unified research data management framework for heterogeneous materials data is presented. The system integrates multimodal datasets using ontologies and knowledge graphs, enabling interoperability and FAIR (findable, accessible, interoperable, reusable) data principles. By linking data across scales and workflows, it supports reproducible, Artifitial
Doaa Mohamed, Samuel García Vázquez, Behnam Mardani, Victor Dudarev, Alfred Ludwig, Maribel Acosta, Markus Stricker   +6 more
wiley   +1 more source

Genomic diversity and the domestication history of cotton (<i>Gossypium hirsutum</i>). [PDF]

Proc Natl Acad Sci U S A
Ning W, Arick MA, Udall JA, Hsu CY, Abdala-Roberts L, Solís-Rodríguez U, Briones-May Y, Magbanua ZV, Pechanova O, Bustos-Segura C, Clancy MV, Díaz-Cruz S, Garnica-Cabrera A, Mamin M, Yu JZ, Turlings TCJ, Hu G, Peterson DG, Grover CE, Wendel JF.   +19 more
europepmc   +1 more source

Is an Apple an Orange? A Large Language Model Benchmark for Candidate Term Extraction and Subclass Decisions Against Upper Ontologies in Engineering and Materials Science

Advanced Engineering Materials, EarlyView.
Building machine‐readable vocabularies for materials science is slow, expert‐driven work. This study benchmarks 13 large language models on two of its first steps: finding candidate terms in engineering articles and deciding where they belong in a class hierarchy.
Thomas Bjarsch, Maximilian Holland, Klaus Drechsler, Johannes Schilp   +3 more
wiley   +1 more source

Analysis of Quality Differences in <i>Rhizoma Musae</i> From Different Origins Based on Rhizosphere Soil Bacterial Diversity and Metabolomics. [PDF]

Food Sci Nutr
Zhang J, Xiong X, Lei J, Zhang Y, Yang Y, Wang Z, Shen W, Luo X, Liu F, Zhao X, Yang X, Long P, Liu J.   +12 more
europepmc   +1 more source