Three New Species, New Records, and a Key to <i>Dryops</i> Olivier, 1791 (Coleoptera: Dryopidae) from Brazil. [PDF]
Alexandre MSL +3 more
europepmc +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
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
Sequence-Specific Primer Polymerase Chain Reaction Genotyping of the Human IL33 Polymorphism rs1929992 (T > C) with Sanger Sequencing Validation. [PDF]
Yamanaka AHU +5 more
europepmc +1 more source
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han +8 more
wiley +1 more source
Fragment-Based Discovery of KLK6 and KLK7 Inhibitors. [PDF]
de Freitas RF +4 more
europepmc +1 more source
ABSTRACT Background Collaterals are crucial factors that influence the infarct growth rate (IGR). We aimed to determine whether a comprehensive multimodal collateral score (MCS), incorporating collateral assessment at the arterial, tissue, and venous levels, is associated with functional independence and provides incremental prognostic value over ...
Giorgio Busto +12 more
wiley +1 more source
Biochemical and Structural Characterization of Two-domain Glycoside Hydrolase PgaB from <i>Serratia marcescens</i> and Its Application for <i>S. aureus</i> Biofilm Degradation. [PDF]
Cruz AF +12 more
europepmc +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
<sup>1</sup>H, <sup>15</sup>N and <sup>13</sup>C backbone and side-chain resonance assignments of Amblyomin-X Kunitz domain. [PDF]
Almeida VS +4 more
europepmc +1 more source

