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
Applications of advanced technologies for detecting genomic structural variation. [PDF]
Mutat Res Rev Mutat Res, 2023 Laufer VA, Glover TW, Wilson TE.
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
Comparison of structural variant callers for massive whole-genome sequence data
BMC GenomicsBackground Detecting structural variations (SVs) at the population level using next-generation sequencing (NGS) requires substantial computational resources and processing time.
Soobok Joe +8 more
doaj +1 more source
Genomic structural variation: A complex but important driver of human evolution. [PDF]
Am J Biol Anthropol, 2023 Soto DC +5 more
europepmc +1 more source
A Lightweight Procedural Layer for Hybrid Experimental–Computational Workflows in Materials Science
Advanced Engineering Materials, EarlyView.We unveil a prototype hybrid‐workflow framework that fuses automatedcomputation with hands‐on experiments. Built atop pyiron, a lightweight, parameterized layer translates procedure descriptions into executable manual steps, syncing instrument settings, human interventions, and data capture in real‐time today.
Steffen Brinckmann +8 more
wiley +1 more source
Stretching the Printability Metric in Direct‐Ink Writing with Highly Extensible Yield‐Stress Fluids
Advanced Functional Materials, EarlyView.This study introduces “drawability” as a new metric for assessing printability in direct‐ink writing, focusing on gap‐spanning performance and speed robustness. By designing yield‐stress fluids with high extensibility, we demonstrate that extensional strain‐to‐break significantly enhances printability.
Chaimongkol Saengow +9 more
wiley +1 more source
Genomic Alteration Burden in Advanced Prostate Cancer and Therapeutic Implications. [PDF]
, 2019 The increasing number of patients with sequenced prostate cancer genomes enables us to study not only individual oncogenic mutations, but also capture the global burden of genomic alterations.
Bose, Rohit, Ryan, Matthew J
core +1 more source
Introgression of a Complex Genomic Structural Variation Causes Hybrid Male Sterility in GJ Rice (Oryza sativa L.) Subspecies. [PDF]
Int J Mol Sci, 2022 Xu N, Xu H, Xu Z, Li F, Xu Q.
europepmc +1 more source
An Engineered Living Material With Pro‐Angiogenic Activity Inducible by Near‐Infrared Light
Advanced Functional Materials, EarlyView.NIR‐responsive engineered living materials (ELMs) for controlled angiogenesis: Near‐infrared (800 nm) light activates engineered probiotic bacteria within alginate‐based living materials to secrete a blood vessel‐regenerating protein. The released protein promotes pro‐angiogenic effects in endothelial networks and chick chorioallantoic membranes.
Anwesha Chatterjee +4 more
wiley +1 more source