Correction to “Differential activity of MEK and ERK inhibitors in BRAF inhibitor resistant melanoma”
Molecular Oncology, EarlyView.
wiley +1 more source
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
Kinetically programmed pathway-dependent autonomous reversibility in biomimetic self-assembly of nanoparticles. [PDF]
Chem SciRoy S, Tyagi S, Pillai PP.
europepmc +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Fragmentation of Long Reads Enables Reliable Mitogenome Assembly From Whole-Genome Amplification Data With Pervasive Palindromic Reads. [PDF]
Mol Ecol ResourVecchi M +3 more
europepmc +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
Pseudouridine synthase PUS1 and initiation factor mtIF2 are human mitoribosomal small subunit assembly factors. [PDF]
Nat CommunSingh V +4 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem +9 more
wiley +1 more source
Snail plots are badges of genome assembly quality. [PDF]
G3 (Bethesda)Challis R, Blaxter M.
europepmc +1 more source
Advanced Engineering Materials, EarlyView.In this review, the current state of light‐assisted 3D printing as it pertains to engineering musculoskeletal tissues including bone, cartilage, skeletal muscle, tendon, and ligaments is summarized. Common printing techniques, photoreactive materials, and study design choices are compiled and reviewed.
Meagan Morgan, Bin Zhang, Roger Narayan
wiley +1 more source