Results 21 to 30 of about 2,216 (183)
In this study, a novel esterase from the thermoacidophilic archaeon Thermoplasma acidophilum was biochemically and structurally characterized. Our results demonstrate that Ta0887 is a highly thermostable esterase that preferentially hydrolyzes p‐nitrophenyl hexanoate and possesses an α‐helical cap domain that likely contributes to its substrate ...
Alejandro Delgado‐Rey +4 more
wiley +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
The terrace, used by different cultures and at different points in history, is the tool that has allowed the cultivation and inhabitation of territories dominated by a steep slope, until then only useful for collecting wild fruit and/or firewood, grazing
María Zurita Elizalde
doaj
Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif +17 more
wiley +1 more source
Arterial Spin‐Labeling MRI at the Cortical‐CSF Interface: A Novel Biomarker in Alzheimer Disease
ABSTRACT Background/Objective Arterial spin‐labeling (ASL) MRI can measure perfusion signal adjacent to CSF spaces and may provide information regarding CSF‐adjacent water transport physiology. We developed an automated pipeline to extract cortical‐CSF interface (IF) perfusion for comparison between Alzheimer disease (AD) and cognitively normal ...
Mona Asghariahmadabad +22 more
wiley +1 more source
On the spreading areas of the ancient Turks-paintings on rocks in large territories beginning from Anadolu up to Altay according to their composition and plot are similar to the paintings in Korea (Ulsan, Ulju, Andong, Haman) and Scandinavia.
Myungga YAUNG +3 more
doaj
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos +2 more
wiley +1 more source
Interstitial lung disease (IRD‐ILD) is a significant cause of morbidity and mortality in patients with inflammatory rheumatic disorders (IRD). High‐resolution computed tomography (HRCT) is widely considered the gold standard for the non‐invasive assessment of ILD; however, its interpretation is constrained by substantial inter‐observer variability and ...
Alexander Pfeil +7 more
wiley +1 more source
Clinical characteristics and concordance of anti‐MDA5 autoantibodies: A multicentre Australian study
Objectives In Australia, anti‐MDA5 antibodies are exclusively tested by line immunoblot assay (LIA). The clinical concordance of a LIA‐positive anti‐MDA5 result is unclear. We aimed to describe the clinical features and determine the clinical concordance of patients with anti‐MDA5 antibodies.
Syed B Ali +11 more
wiley +1 more source

