Results 91 to 100 of about 93,106 (305)
Molecular characterization of covRS mutations in M1UK Streptococcus pyogenes
FEBS Open Bio, EarlyView.Group A Streptococcus (GAS) acquires covRS mutations driving a hypervirulent bacterial state, frequently associated with invasive disease‐like necrotizing fasciitis. We demonstrate that the newly emerged M1UK GAS lineage can also acquire these mutations.
Jarrad Pritchard +12 more
wiley +1 more source
, 2020 Purpose: To assess the biomechanical stability of three different marketed intraocular lenses (IOLs) with different haptic designs (four-loop IOL [Micro F FineVision model] and double C-loop IOL [POD F and POD FT models], all manufactured by PhysIOL), in
Nuria Garzón +14 more
core +1 more source
Dealing with diversity in computational cancer modeling [PDF]
, 2013 25.02.15 KB. Ok to add published version to spiral, OA paperThis paper discusses the need for interconnecting computational cancer models from different sources and scales within clinically relevant scenarios to increase the accuracy of the models and ...
Wang, Zhihui +26 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Editorial: Non-linear analysis and machine learning in cardiology
Frontiers in Physiology, 2023 Hans Dierckx +5 more
doaj +1 more source
Vaccine Research, 2014 Introduction: Omp31 is animmunodominant and protective antigen conserved in Brucella species and a good candidate for vaccine design. Material & methods: The present study aimed at in silico design of the truncated Omp31 (TOmp31) using bioinformatic ...
Maryam Golshani +2 more
doaj
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
In silico assessment of potential druggable pockets on the surface of α1-Antitrypsin conformers [PDF]
, 2012 The search for druggable pockets on the surface of a protein is often performed on a single conformer, treated as a rigid body. Transient druggable pockets may be missed in this approach.
Anathe O M Patschull +25 more
core +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source