Results 81 to 90 of about 560,418 (257)

Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks   +20 more
wiley   +1 more source

2D Electrophoresis Gel Image and Diagnosis of a Disease [PDF]

open access: yesarXiv, 2003
The process of diagnosing a disease from the 2D gel electrophoresis image is a challenging problem. This is due to technical difficulties of generating reproducible images with a normalized form and the effect of negative stain. In this paper, we will discuss a new concept of interpreting the 2D images and overcoming the aforementioned technical ...
arxiv  

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng   +6 more
wiley   +1 more source

Epitope Mapping of Anti‐Neurofascin 155 Antibody in a Large Cohort of Autoimmune Nodopathy Patients

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune nodopathy (AN), a newly recognized disease entity, is an immune‐mediated polyneuropathy involving autoantibodies against cell adhesion molecules located in nodes of Ranvier and paranodal regions, such as neurofascin 186 (NF186) and neurofascin 155 (NF155). The present study aimed to identify the epitopes for autoantibodies
Amina A. Abdelhadi   +6 more
wiley   +1 more source

Regulating Protein Immobilization During Cell‐Free Protein Synthesis in Hyaluronan Microgels

open access: yesAdvanced Biology, EarlyView.
Bifunctional microgels carrying a linear DNA template and Ni2+‐activated NTA moieties are used as platform for cell‐free protein synthesis and in situ protein immobilization. By varying the concentration of NTA moieties in the microgels, the amount of GFP‐His immobilized inside the microgel and released to the microgel environment can be regulated ...
Anika Kaufmann   +2 more
wiley   +1 more source

A Different Perspective on the Solid Lubrication Performance of Black Phosphorous: Friend or Foe?

open access: yesAdvanced Engineering Materials, EarlyView.
Researchers investigate black phosphorous (BP) as a standalone solid lubricant coating through ball‐on‐disc linear‐reciprocating sliding experiments in dry conditions. Testing on different metals shows BP doesn't universally reduce friction and wear. However, it achieves 33% friction reduction on rougher iron surfaces and 23% wear reduction on aluminum.
Matteo Vezzelli   +5 more
wiley   +1 more source

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