Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight
ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown+6 more
wiley +1 more source
Development of a TaqMan qPCR for the Simultaneous Detection of the TuMV and BBWV2 Viruses Responsible for the Viral Disease in Pseudostellaria heterophylla. [PDF]
Gu L+9 more
europepmc +1 more source
The Extremophiles: Adaptation Mechanisms and Biotechnological Applications. [PDF]
Marzban G, Tesei D.
europepmc +1 more source
Regulation of Human Cloning: Implication for Biotechnological Advancement [PDF]
McDaniel, Michael J.
core +2 more sources
Human TDP43 is required for ALS‑related annexin A11 toxicity in Drosophila. [PDF]
Barnard J+5 more
europepmc +1 more source
Gromomycins represent a novel class of pentacyclic triterpene antibiotics with a unique biosynthetic pathway independent of the squalene route. These compounds exhibit potent activity against drug‐resistant Gram‐positive pathogens, including MRSA, and their unprecedented cyclization mechanism provides new insight into bacterial triterpene biosynthesis.
Stepan Tistechok+11 more
wiley +1 more source
How advancements in molecular biology impact education and training. [PDF]
Walther RE, Hrabak M, Bernstein DA.
europepmc +1 more source
Evolution‐Guided Discovery of Antimycobacterial Triculamin‐Like Lasso Peptides
The hypothesized convergent biosynthesis of triculamin‐like lasso peptides from different biosynthetic gene cluster (BGC) types represented across multiple bacterial phyla. The elucidation of the triculamin non‐canonical BGC and resistance mechanism by heterologous expression in Streptomyces albus and in vitro acetylation with resistance conveying ...
Aske Merrild+3 more
wiley +1 more source
Correction: Suleman et al. Immunoinformatics and Immunogenetics-Based Design of Immunogenic Peptides Vaccine against the Emerging Tick-Borne Encephalitis Virus (TBEV) and Its Validation through In Silico Cloning and Immune Simulation. Vaccines 2021, 9, 1210. [PDF]
Suleman M+14 more
europepmc +1 more source
Saarvienin A—A Novel Glycopeptide with Potent Activity against Drug‐Resistant Bacteria
A structurally distinct glycopeptide, saarvienin A, represents a new family of glycopeptide antibiotics consisting of five sugar/aminosugar units connected to a halogenated peptide core. Saarvienin A overcomes vancomycin resistance and shows strong activity against drug‐resistant Gram‐positive bacteria, in particular, high‐priority pathogens such as ...
Amninder Kaur+7 more
wiley +1 more source