Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero+15 more
wiley +1 more source
Uncovering conserved networks and global conformational changes in G protein-coupled receptor kinases. [PDF]
Seo MJ, Yu W.
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Objective We aimed to assess differences in baseline characteristics, efficacy, and safety of advanced therapies between male and female patients with axial spondyloarthritis (axSpA) in randomized controlled trials (RCTs). Methods We conducted a systematic literature search for RCTs assessing the efficacy of advanced therapies in patients with axSpA ...
Angel Gao+5 more
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Entropy drives the ligand recognition in G-protein-coupled receptor subtypes. [PDF]
Yang X+20 more
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Objective Metabolic syndrome (MetS) is a known comorbidity of psoriatic arthritis (PsA) and is associated with PsA disease activity. We aimed to explore the association between MetS and radiographic features (peripheral and axial) in PsA. Methods We included patients with PsA followed at our prospective observational cohort for the period between 1978 ...
Fadi Kharouf+6 more
wiley +1 more source
Cardioprotective effect of genetic ablation of the G-protein-coupled receptor kinase GRK2 in adult pancreatic β-cells during high-fat diet. [PDF]
Snyder J+11 more
europepmc +1 more source
Metabolic Consequences of Rheumatoid Arthritis
Patients with rheumatoid arthritis (RA) may have metabolic disruption, which can contribute to adverse long‐term outcomes, for multiple reasons. Patients with RA appear to have a higher risk of sarcopenia, type 1 and type 2 diabetes mellitus, metabolic syndrome, and hypertension. Systemic inflammation in RA can cause a “lipid paradox,” with reduced low‐
Stevie Barry+2 more
wiley +1 more source
Genetic deletion of G protein-coupled receptor 56 aggravates traumatic brain injury through the microglial CCL3/4/5 upregulation targeted to CCR5. [PDF]
Sha Z+12 more
europepmc +1 more source
Objective We aimed to assess whether high sensitivity c‐reactive protein (hsCRP) could predict the development of psoriatic arthritis (PsA) in patients with psoriasis. Methods We analyzed data from a prospective cohort of patients with psoriasis without PsA at enrollment. Participants were assessed annually by a rheumatologist for signs and symptoms of
Lihi Eder+5 more
wiley +1 more source
Cross-species comparison of AlphaFold-derived G protein-coupled receptor structures reveals novel melatonin-related receptor in Neurospora crassa. [PDF]
Maienza CSD, Lamoureux G, Lee K.
europepmc +1 more source