Results 201 to 210 of about 542,906 (295)

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

MegaPX: fast and space-efficient peptide assignment method using IBF-based multi-indexing. [PDF]

Bioinformatics
Lutfi A, Holstein T, Andreotti S, Muth T.   +3 more
europepmc   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Rethinking bioinformatics in liquid-liquid phase separation: data resources, predictive models, and an event-centric perspective. [PDF]

Brief Bioinform
Yuan ZL, Wang B, Chen YL, Huang HQ, Li BH, Zahoor A, Ren L, Du M, Fang RQ, Ning L.   +9 more
europepmc   +1 more source

Temporal Trends and Short‐ and Long‐Term Mortality of People With Acute Myocardial Infarction and Rheumatoid Arthritis: A Nationwide Cohort Study

Arthritis Care &Research, EarlyView.
Objective We investigated whether a diagnosis of rheumatoid arthritis (RA) affects the quality of inpatient acute myocardial infarction (AMI) care and long‐term mortality post‐AMI. Methods We analyzed data from 784,091 adults, 6,047 with a diagnosis of RA, from England and Wales hospitalized with AMI between 2005 and 2019 from the Myocardial Ischaemia ...
Megan Butler, Nicholas Weight, Muhammad Rashid, Rodrigo Bagur, Purvi Parwani, Samantha Hider, Edward Roddy, Robert Butler, Mamas A. Mamas   +8 more
wiley   +1 more source

Retractions in Rheumatology: Trends, Causes, and Implications for Research Integrity

Arthritis Care &Research, EarlyView.
Objective We aimed to describe the trends and main reasons for study retraction in rheumatology literature. Methods We reviewed the Retraction Watch database to identify retracted articles in rheumatology. We recorded the main study characteristics, authors’ countries, reasons for retraction, time from publication to retraction, and trends over time ...
Anna Maria Vettori, Michele Iudici
wiley   +1 more source

Contemporary data-driven innovations in peptide-based therapeutic design. [PDF]

Brief Bioinform
Priyadarsinee L, Kungurtsev V, Kumar V, Chatterjee B, Sastry GN, Murugan NA.   +5 more
europepmc   +1 more source

Clinical Significance of Therapeutic Drug Level Monitoring for Mycophenolate in Patients With Extrarenal Systemic Lupus Erythematosus—A Systematic Review and Meta‐Analysis

Arthritis Care &Research, EarlyView.
Objective Clinical response to mycophenolic acid (MPA) is highly heterogeneous; thus, therapeutic drug level monitoring (TDM) may help improve treatment efficacy. This systematic review and meta‐analysis examined therapeutic ranges for MPA levels associated with better outcomes and safety in patients with systemic lupus erythematosus (SLE ...
Zahraa Qamhieh, Dalia Sriwi, Callie Saric, Tripti Singh, Christie M. Bartels, Shivani Garg   +5 more
wiley   +1 more source

Protocol for analyzing potential targets of environmental pollutants in human diseases using network toxicology and molecular docking. [PDF]

STAR Protoc
Hong Y, Li J, Zhou J, Wang D, Chen F, Mi Y, Wang Y.   +6 more
europepmc   +1 more source

Developing and Evaluating a Laboratory‐Based Frailty Index for the Prediction of Long‐Term Health Outcomes in Systemic Lupus Erythematosus

Arthritis Care &Research, EarlyView.
Objective We aimed to construct and evaluate the first laboratory‐based frailty index (FI‐Lab) for predicting adverse outcomes in systemic lupus erythematosus (SLE) and to compare its predictive ability to that of an existing clinical FI. Methods We used data from a single‐center prospective cohort of adult patients with SLE whose baseline visit ...
Grace Burns, Samuel D. Searle, Alexandra Legge   +2 more
wiley   +1 more source