Results 231 to 240 of about 1,709,491 (293)

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

Single-cell transcriptomic signatures of T cells associated with rituximab responsiveness in idiopathic nephrotic syndrome. [PDF]

iScience
Koshi-Ito E, Watanabe Y, Onogi C, Horinouchi A, Ogami K, Yoshino S, Sugimoto Y, Komatsu S, Tanaka A, Furuhashi K, Maruyama S, Suzuki HI.   +11 more
europepmc   +1 more source

Systemic Extracerebral Atherosclerotic Burden and Dementia Risk After Incident Stroke

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Stroke survivors are at increased risk of dementia, but clinically accessible markers of risk heterogeneity remain limited. Previous studies have largely examined atherosclerotic disease in individual vascular beds rather than the overall burden of systemic extracerebral atherosclerosis.
Zhexuan Yu, Tianxue Chen, Wei Jin, Weifeng Jin, Haitong Wan   +4 more
wiley   +1 more source

Protocol for multimodal programming of murine macrophage phenotypes. [PDF]

STAR Protoc
Mirji G, Bhat SA, Shinde RS.
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

A disentangled transformer-based transfer learning framework to predict patient drug response from tumor single-cell transcriptomics. [PDF]

Bioinformatics
Sun X, Shen L, Wang L, Zhang X, Lu Z, Tang J, Li M.   +6 more
europepmc   +1 more source

Associations of Rheumatoid Arthritis Disease Activity With Frailty Over Five Years of Follow‐up

Arthritis Care &Research, EarlyView.
Objective To evaluate whether rheumatoid arthritis (RA) disease activity is associated with frailty both in cross‐section and longitudinally. Methods Participants within the Veterans Affairs Rheumatoid Arthritis (VARA) registry enrolled from 2003 to 2022 were included.
Courtney N. Loecker, Yangyuna Yang, Punyasha Roul, Aaron Baraff, Myra S. Schmaderer, Lani Zimmerman, Kaleb Michaud, Namrata Singh, Grant W. Cannon, Gary Kunkel, Ted R. Mikuls, Ariela R. Orkaby, Joshua F. Baker, Bryant R. England, Katherine D. Wysham   +14 more
wiley   +1 more source

Robust and generalizable CNV detection for single-cell sequencing assays. [PDF]

Nucleic Acids Res
Moore TW, Mohammed H, Adey AC, Yardımcı GG.   +3 more
europepmc   +1 more source

Cracking the Code: Which Ocular Symptoms Predict Dry Eye Signs? Insights From a Large International Sicca Registry

Arthritis Care &Research, EarlyView.
Objective The study aimed to identify symptom‐based predictors of dry eye disease (DED) signs in the Sjögren's International Collaborative Clinical Alliance (SICCA) cohort. Methods We performed a retrospective analysis examining 16 ocular symptoms (most graded 0–4) and artificial tear (AT) use (graded 0–3) as predictors of DED signs (abnormal ocular ...
Pragnya R. Donthineni, Chloe Shields, Rohit Muralidhar, Shreya Bhatt, Alan Baer, Robert Fox, Sara S. McCoy, Anat Galor   +7 more
wiley   +1 more source