Results 41 to 50 of about 4,199,245 (250)

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +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

The Application of the Second Generation Non-Dominated Sorting Genetic Algorithm in Multi-Project Human Resource Scheduling Management

IEEE Access
With the development of the national economy, a large number of small and medium-sized enterprises have rapidly expanded in scale, and their internal structures have become increasingly complex. Traditional single project management is no longer suitable
Rui Zhao, Zhenhua Lei, Ziyu Zhao
doaj   +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

Discovering comprehensible classification rules with a genetic algorithm [PDF]

, 2000
Presents a classification algorithm based on genetic algorithms (GAs) that discovers comprehensible IF-THEN rules, in the spirit of data mining. The proposed GA has a flexible chromosome encoding, where each chromosome corresponds to a classification ...
Lopes, Heitor S., Fidelis, M.V., Freitas, Alex A.   +2 more
core   +1 more source

Influence of Scan Strategies in Electron Beam Powder Bed Fusion on Solidification, Microstructure, and High‐Temperature Compressive Properties of γ′‐Strengthened Inconel 738LC

Advanced Engineering Materials, EarlyView.
Experiments and thermophysical simulations were conducted to investigate the electron beam powder bed fusion electron beam (PBF‐EB/M) process for the γ′‐strengthened nickel‐based superalloy Inconel 738LC. The results demonstrate the impact of process‐induced microstructural variations on high‐temperature mechanical behavior, providing a basis for ...
Jan Niklas Petenati, Karthik Kumar Banku, Prasanth Bondi, Ivan Zhirnov, Yangyiwei Yang, Gordon Schmidt, Jürgen Christen, Georg Hasemann, Manja Krüger, Bai‐Xiang Xu, Bilal Gökce, Silja‐Katharina Rittinghaus   +11 more
wiley   +1 more source

A Method for Calculating Whole-Genome Sequencing Outcomes from Trio Data

Algorithms
Background. Whole-genome sequencing (WGS) enables comprehensive detection of genetic variants but faces limitations in benchmarking due to incomplete reference datasets.
Nikita Koltunov, Egor Guguchkin, Oleg Samovarov, Liudmila Mikhailova, Evgeny Karpulevich   +4 more
doaj   +1 more source

L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases

Pharmaceuticals, 2019
Ferritin is a multimeric protein composed of light (L-ferritin) and heavy (H-ferritin) subunits that binds and stores iron inside the cell. A variety of mutations have been reported in the L-ferritin subunit gene (FTL gene) that cause the following five ...
Beatriz Cadenas, Josep Fita-Torró, Mar Bermúdez-Cortés, Inés Hernandez-Rodriguez, José Luis Fuster, María Esther Llinares, Ana María Galera, Julia Lee Romero, Santiago Pérez-Montero, Cristian Tornador, Mayka Sanchez   +10 more
doaj   +1 more source

Ancestral haplotype reconstruction in endogamous populations using identity-by-descent.

PLoS Computational Biology, 2021
In this work we develop a novel algorithm for reconstructing the genomes of ancestral individuals, given genotype or sequence data from contemporary individuals and an extended pedigree of family relationships.
Kelly Finke, Michael Kourakos, Gabriela Brown, Huyen Trang Dang, Shi Jie Samuel Tan, Yuval B Simons, Shweta Ramdas, Alejandro A Schäffer, Rachel L Kember, Maja Bućan, Sara Mathieson   +10 more
doaj   +1 more source

High‐Temperature Phase Transformation in a V‐9Si‐6.5B Alloy: The Kinetic and Crystallographic Pathway From V5SiB2 to V8SiB4

Advanced Engineering Materials, EarlyView.
In situ synchrotron high‐energy X‐ray diffraction reveals the real‐time high‐temperature phase evolution of a ternary V‐9Si‐6.5B alloy. The study uncovers a kinetically delayed V5SiB2 → V8SiB4 transformation governed by massive structural and chemical barriers.
Zahra Sabeti, Andreas Stark, Roja Rani Korrayi, Florian Pyczak, Georg Hasemann   +4 more
wiley   +1 more source