Results 151 to 160 of about 821,591 (309)
HPDL Variant Type Correlates With Clinical Disease Onset and Severity
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee +19 more
wiley +1 more source
Modelling and simulation of polycomb-dependent chromosomal interactions in drosophila [PDF]
arXiv, 2005 The conditions of the chromosomes inside the nucleus in the Rabl configuration have been modelled as self-avoiding polymer chains under restraining conditions. To ensure that the chromosomes remain stretched out and lined up, we fixed their end points to two opposing walls.
arxiv
Inference of plasmid copy number mean and noise from single cell gene expression data
, 2010 Plasmids are extra-chromosomal DNA molecules which code for their own replication. We previously reported a setup using genes coding for fluorescent proteins of two colors that allowed us, using a simple model, to extract the plasmid copy number noise in
Chatenay, Didier +3 more
core +1 more source
A PANoptosis‐Based Signature for Survival and Immune Predication in Glioblastoma Multiforme
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PANoptosis is a concept of total cell death characterized by pyroptosis, apoptosis, and necroptosis. We aimed to explore the clinical significance of PANoptosis‐related genes (PARGs) in glioblastoma multiforme (GBM). Methods Expression profiles of GBM were downloaded from the XENA database as a training dataset to construct a ...
Jun Yang +4 more
wiley +1 more source
High-order chromatin architecture determines the landscape of chromosomal alterations in cancer [PDF]
arXiv, 2011 The rapid growth of cancer genome structural information provides an opportunity for a better understanding of the mutational mechanisms of genomic alterations in cancer and the forces of selection that act upon them. Here we test the evidence for two major forces, spatial chromosome structure and purifying (or negative) selection, that shape the ...
arxiv
Multiple Change-point Detection: a Selective Overview
, 2016 Very long and noisy sequence data arise from biological sciences to social science including high throughput data in genomics and stock prices in econometrics.
Hao, Ning, Niu, Yue S., Zhang, Heping
core +1 more source
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source
Advanced Functional Materials, EarlyView.A metastable high‐vacancy concentration layered P3‐type Na0.5Cr0.5Ti0.5O2 negative electrode material has been synthesized from its K analogues P3‐type K0.5Cr0.5Ti0.5O2 using a facile room temperature ion‐exchange method. The P3‐type Na0.5Cr0.5Ti0.5O2 demonstrates a gravimetric capacity of 125 mA h g−1 and high‐rate performance (80% charging in 3 min ...
Alok K. Pandey +6 more
wiley +1 more source
New chromosome counts in some plant species from east and south-east Iran
یافتههای نوین در علوم زیستی, 2018 In this study, we investigated the chromosome numbers of some endemic species distributed in East and South-East Iran. The mitotic chromosome counts were presented for the first time for six species in three angiosperm families including: Linaria iranica
Firouzeh Bordbar, Mansour Mirtadzadini
doaj
Recent Applications of Mesoporous Silica Nanoparticles in Gene Therapy
Advanced Healthcare Materials, EarlyView.The review summarizes the synthesis of mesoporous silica nanoparticles (MSNs) with modifiable surface properties, functionalization strategies, mechanism of therapeutic payload release, and current applications in gene therapy, focusing on their capabilities in the targeted delivery of therapeutic nucleic acids, CRISPR‐Cas systems, and other genetic ...
Tamanna Binte Huq +4 more
wiley +1 more source