Results 161 to 170 of about 407,038 (348)
Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Identifying functional measures that are both valid and reliable in the limb girdle muscular dystrophy (LGMD) population is critical for quantifying the level of functional impairment related to disease progression in order to establish clinical trial readiness in the context of anticipated therapeutic trials.
Stephanie M. Hunn +29 more
wiley +1 more source
Reassessing the Exon-Foldon correspondence using Frustration Analysis [PDF]
arXivProtein folding and evolution are intimately linked phenomena. Here, we revisit the concept of exons as potential protein folding modules across 38 abundant and conserved protein families. Taking advantage of genomic exon-intron organization and extensive protein sequence data, we explore exon boundary conservation and assess their foldon-like behavior
arxiv
Endocrine Journal, 2001 We have recently isolated two untranslated first exons, exon 0N and exon 0S, of rat estrogen receptor alpha (ER alpha) gene from the liver by use of 5'-rapid amplification of the cDNA ends (5'-RACE) method. In this communication, we further analyzed the 5'-untranslated region (UTR) of the ER alpha mRNA in rat anterior hypophysis in order to investigate
Kazuhiko Hoshi +3 more
openaire +4 more sources
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero +15 more
wiley +1 more source
Topological Entropy of DNA Sequences [PDF]
arXiv, 2011 Topological entropy has been one of the most difficult to implement of all the entropy-theoretic notions. This is primarily due to finite sample effects and high-dimensionality problems. In particular, topological entropy has been implemented in previous literature to conclude that entropy of exons is higher than of introns, thus implying that exons ...
arxiv
Mutation in LDL Receptor: Alu-Alu Recombination Deletes Exons Encoding Transmembrane and Cytoplasmic Domains [PDF]
, 1985 Mark A. Lehrman +5 more
openalex +1 more source
Advanced Healthcare Materials, EarlyView.This study develops itaconate‐based polymer microparticles (IA‐MPs) for macrophage‐targeted intracellular delivery, overcoming the limitations of traditional itaconate administration. IA‐MPs achieve controlled release through phagocytosis, reducing pro‐inflammatory cytokine expression and reprogramming macrophage metabolism toward glycolysis.
Kaitlyn E. Woodworth +10 more
wiley +1 more source
CTCF Degradation Causes Increased Usage of Upstream Exons in Mouse Embryonic Stem Cells [PDF]
arXiv, 2018 Transcriptional repressor CTCF is an important regulator of chromatin 3D structure, facilitating the formation of topologically associating domains (TADs). However, its direct effects on gene regulation is less well understood. Here, we utilize previously published ChIP-seq and RNA-seq data to investigate the effects of CTCF on alternative splicing of ...
arxiv
Quantifying alternative splicing from paired-end RNA-sequencing data
, 2014 RNA-sequencing has revolutionized biomedical research and, in particular, our ability to study gene alternative splicing. The problem has important implications for human health, as alternative splicing may be involved in malfunctions at the cellular ...
Attolini, Camille Stephan-Otto +3 more
core +1 more source