Results 151 to 160 of about 667,667 (355)
RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Parkinson's disease (PD) is a neurodegenerative disorder that may sometimes be caused by deleterious genetic variants. Among them, RAB39B polymorphisms are known as rare causes of early‐onset PD associated with intellectual disability (Waisman's syndrome).
Caterina Del Regno +13 more
wiley +1 more source
Gene structure for the alpha 1 chain of a human short-chain collagen (type XIII) with alternatively spliced transcripts and translation termination codon at the 5' end of the last exon. [PDF]
, 1988 Liisa Tikka +4 more
openalex +1 more source
Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou +12 more
wiley +1 more source
Advanced Healthcare Materials, EarlyView.This work presents a “tooth‐on‐chip” device that mimics dental pulp tissue. By co‐culturing key cell types, it recreates vascular networks, stem cell niches, the odontoblast/dentine interface, and trigeminal innervation. This innovative platform provides a unique model of dental pulp structure and physiology, with significant potential for accelerating
Alessandro Cordiale +6 more
wiley +1 more source
Development of algorithms and software for classification of nucleotide sequences
Informatika, 2019 Coding and non-coding nucleotide sequences of the human reference genome have been investigated. Seven models of vectorization of nucleotide sequences based on mono-, bi-, trigram nucleotide frequencies, parameters of the category-position-frequency ...
V. R. Zakirava +4 more
doaj
Advanced Healthcare Materials, EarlyView.This study reports an in vivo self‐assembled siRNA strategy that enables the liver to generate small extracellular vesicles (sEVs) tagged with a muscle‐targeting peptide (MSP) and naturally loaded with myostatin (MSTN)‐siRNA. These MSP‐tagged sEVs are systemically delivered to skeletal muscle, efficiently silence MSTN, promote muscle hypertrophy, and ...
Xin Yin +14 more
wiley +1 more source
Advanced Healthcare Materials, EarlyView.Commercial vascular grafts are made from ePTFE, a highly hydrophobic, foreign material that fails at a high rate in small‐diameter applications. Plasma polymer nanoparticles (PPN) are a versatile material functionalisation tool, used here to present fibrillin‐1 fragment PF8 on the graft surface.
Bob S. L. Lee +9 more
wiley +1 more source
Designer Exons Inform a Biophysical Model for Exon Definition
, 2013 Pre-mRNA molecules in humans contain mostly short internal exons flanked by long introns. To explain the removal of such introns, recognition of the exons instead of recognition of the introns has been proposed. This thesis studies this exon definition mechanism using a bottom-up approach.
openaire +3 more sources
A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A [PDF]
, 1989 Vivian Chan, TK Chan, TM Tong, D. Todd
openalex +1 more source
Advanced Materials, EarlyView.An advanced‐fidelity CRISPR nuclease, FnCas9‐AF2, is rationally engineered to discriminate single‐base mismatches with unprecedented level precision. Integrated into the MUTE‐Seq workflow, FnCas9‐AF2 depletes wild‐type cell‐free DNA, thereby exposing rare tumor‐derived mutant DNA (a molecular “needle in a haystack”).
Sunghyeok Ye +20 more
wiley +1 more source