Results 151 to 160 of about 4,608,949 (263)

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

Annals 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, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Truncation-Free Genetic Code Expansion with Tetrazine Amino Acids for Quantitative Protein Ligations. [PDF]

Bioconjug Chem, 2023
Eddins AJ, Bednar RM, Jana S, Pung AH, Mbengi L, Meyer K, Perona JJ, Cooley RB, Karplus PA, Mehl RA.   +9 more
europepmc   +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

Arthritis 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, Cecilia Nalli, Francesca Crisafulli, Carlo Garaffoni, Marcello Govoni, Giulia Voltarel, Alba C. Pozzi, Beatrice Maranini, Ettore Silvagni, Alessandra Bortoluzzi, Angela Tincani   +10 more
wiley   +1 more source

Shedding light on ORAI1 channel with genetic code expansion. [PDF]

Cell Calcium, 2023
Ali S, Ma G, Zhou Y.
europepmc   +1 more source

Real‐World Trends in Prenatal Antirheumatic Drug Utilization in Ontario, Canada: A Cross‐Sectional Time‐Series Analysis

Arthritis Care &Research, EarlyView.
Objective This study aimed to describe real‐world trends in preconception and prenatal use of antirheumatic drugs among pregnant individuals with rheumatic diseases in Ontario, Canada. Methods We conducted a time‐series analysis using repeated cross‐sectional data to examine annual patterns of disease‐modifying antirheumatic drug (DMARD) use among ...
Shenthuraan Tharmarajah, Swaleh Hussain, Sara J. T. Guilcher, Lisa M. McCarthy, Dharini Mahendira, Howard Berger, Mina Tadrous   +6 more
wiley   +1 more source

Factors Associated With Fibromyalgia Diagnosis Among People Meeting Criteria: Results From UK Biobank

Arthritis Care &Research, EarlyView.
Objective The diagnosis of fibromyalgia (FM) is challenging due to the absence of definitive biomarkers, numerous overlapping comorbidities, and its reliance on patient‐reported symptoms. Discrepancies between diagnostic criteria and clinical practice imply the possibility of diagnostic biases, complicating timely and accurate identification.
Sung‐A Kim, Gary J. Macfarlane, Marcus J. Beasley   +2 more
wiley   +1 more source

Development of m6A Readers for Enhanced Recognition In Vitro via Genetic Code Expansion. [PDF]

ACS Chem Biol
Addo M, Ficaretta E, Chang Y, Qiu W, Teng C, Bao JL, Chatterjee A, Zhou H.   +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

Towards Defect Phase Diagrams: From Research Data Management to Automated Workflows

Advanced Engineering Materials, EarlyView.
A research data management infrastructure is presented for the systematic integration of heterogeneous experimental and simulation data required for defect phase diagrams. The approach combines openBIS with a companion application for large‐object storage, automated metadata extraction, provenance tracking and federated data access, thereby supporting ...
Khalil Rejiba, Sang‐Hyeok Lee, Christina Gasper, Martina Freund, Sandra Korte‐Kerzel, Ulrich Kerzel   +5 more
wiley   +1 more source

Cold Orthogonal Translation: A Psychrophilic Pyrrolysyl-tRNA Synthetase Boosts Genetic Code Expansion in E. coli. [PDF]

Adv Sci (Weinh)
Koch NG, Goettig P, Nash MA, Rappsilber J, Budisa N.   +4 more
europepmc   +1 more source