Results 71 to 80 of about 377,688 (292)

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar   +7 more
wiley   +1 more source

Assessing the Sensitivity and the Clinical Impact of the 2023 American College of Rheumatology/EULAR Classification Criteria in Obstetric Antiphospholid Syndrome: Findings From a Multicenter Italian Cohort With a Long‐Term Follow‐Up

open access: yesArthritis Care &Research, EarlyView.
Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli   +10 more
wiley   +1 more source

The ND250 indexes a visual–orthographic familiarity effect in visual word recognition: evidence from Chinese components

open access: yesFrontiers in Psychology
Reading pseudowords (or low-frequency words) typically elicits stronger brain activation than real words (or high-frequency words) in the ventral occipitotemporal cortex (vOT).
Ziyi Huang   +7 more
doaj   +1 more source

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

open access: yesAdvanced 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   +11 more
wiley   +1 more source

NFDI MatWerk Ontology (MWO): A BFO‐Compliant Ontology for Research Data Management in Materials Science and Engineering

open access: yesAdvanced Engineering Materials, EarlyView.
This article presents the NFDI‐MatWerk Ontology (MWO), a Basic Formal Ontology‐based framework for interoperable research data management in materials science and engineering (MSE). Covering consortium structures, research data management resources, services, and instruments, MWO enables semantic integration, Findable, Accessible, Interoperable, and ...
Hossein Beygi Nasrabadi   +4 more
wiley   +1 more source

Inherited thrombocytopenias

open access: yesHematology, 2015
No ...
Balduini, Carlo L, NORIS, PATRIZIA
openaire   +3 more sources

Study on Inheritance Taxes in EU Member States and Possible Mechanisms to Resolve Problems of Double Inheritance Taxation in the EU. [PDF]

open access: yes
The objective of this external study is to provide more information about the extent of cross-border inheritance tax problemsEuropean Union, taxation, inheritance ...
Copenhagen Economics
core  

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

open access: yesAdvanced 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   +6 more
wiley   +1 more source

Astrocytes-associated research in Parkinson’s disease: an explored trends analysis

open access: yesFrontiers in Aging Neuroscience
BackgroundParkinson’s disease (PD) is characterized pathologically by the degeneration of dopaminergic neurons and the formation of Lewy bodies. Among the various cellular and molecular mechanisms of PD, astrocyte dysfunction is one of the causes of ...
Yan-Jun Chen   +4 more
doaj   +1 more source

A Knowledge‐Based Approach for Understanding and Managing Additive Manufacturing Data

open access: yesAdvanced Engineering Materials, EarlyView.
Additive manufacturing processes generate a large amount of data. Effectively managing, understanding, and retrieving information from this data remains a major challenge. Therefore, we propose an ontology‐based approach to integrate heterogeneous data, enable semantic queries, and support decision‐making.
Mina Abd Nikooie Pour   +5 more
wiley   +1 more source

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