Results 51 to 60 of about 170,031 (283)
Annals of Clinical and Translational Neurology, EarlyView.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
, 1963 Two individuals with white lab coats looking at a Densitometry instrument with ...
core +1 more source
Bone densitometry and fat index after sleeve and subsleeve gastrectomy in animal model
Advanced Biomedical Research, 2022 Background: Previous studies have reported that gastrectomy and fundectomy can induce osteopenia. Body fat index is a new index of obesity that shows central obesity and other risks of obesity.
Hajar Khazraei +6 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini +12 more
wiley +1 more source
The Lupus Damage Index Revision Program: Results From the Item Generation and Reduction Phases
Arthritis Care &Research, EarlyView.Objective A data‐driven and expert/patient consensus‐based project to develop a revised Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index (SDI) is under way supported by SLICC, ACR, and the Lupus Foundation of America. Our objective is to report the item generation and reduction phase results
Burak Kundakci +25 more
wiley +1 more source
Assessment of risk factors for osteopenia development in premature babies
Сучасні медичні технології, 2023 Neonatal osteopenia (KB 61.3 (ICD-11)) – violation of mineral exchange of bone tissue (BT) of premature babies (PB). Predicting and detection of osteopenia is the key to its successful control. Aim. The aim of the article was to determine risk factors
A. Yu. Tsymbal, Yu. V. Kotlova
doaj +1 more source
Arthritis Care &Research, EarlyView.Interstitial lung disease (ILD) is a significant cause of morbidity and mortality in patients with inflammatory rheumatic disorders (IRDs). High‐resolution computed tomography (HRCT) is widely considered the gold standard for the noninvasive assessment of ILD; however, its interpretation is constrained by substantial interobserver variability and the ...
Alexander Pfeil +7 more
wiley +1 more source
Hepatology, EarlyView., 2022 Increased liver content of DHA‐derived small lipid autacoids (i.e resolvin D1 and maresin 1) associates with enhanced mitochondrial oxidative phosphorylation, fatty acid β‐oxidation and bioenergetic metabolic flux. These features provide hepatic protection from steatotic, pro‐inflammatory and fibrogenic insults.
Cristina López‐Vicario +12 more
wiley +1 more source
Molecular Genetics and Metabolism ReportsObjectives: Phenylketonuria is a hereditary condition caused by the deficiency of the enzyme phenylalanine hydroxylase, leading to abnormal phenylalanine metabolism.
Akram Ehsasat Vatan, M.D. +3 more
doaj +1 more source
Advanced Functional Materials, EarlyView.A 3D anisotropic hydrogel derived from heart extracellular matrix guides cytoskeletal alignment and nuclear remodeling in reprogrammed cardiomyocyte‐like cells. This study reveals how matrix alignment modulates nuclear envelope dynamics and chromatin state, triggering transcriptional and functional maturation.
Seung Ju Seo +7 more
wiley +1 more source