Abstract：
:People with ataxia-telangiectasia (A-T) display phenotypic variability with regard to progression of immunodeficiency, sino-pulmonary disease, and neurologic decline. To determine the association between differential gene expression, epigenetic state, and phenotypic variation among people with A-T, we performed transcriptional and genome-wide DNA methylation profiling in patients with mild and classic A-T progression as well as healthy controls. RNA and genomic DNA were isolated from peripheral blood mononuclear cells for transcriptional and DNA methylation profiling with RNA-sequencing and modified reduced representation bisulfite sequencing, respectively. We identified 555 genes that were differentially expressed among the control, mild A-T, and classic A-T groups. Genome-wide DNA methylation profiling revealed differential promoter methylation in cis with 146 of these differentially expressed genes. Functional enrichment analysis identified significant enrichment in immune, growth, and apoptotic pathways among the methylation-regulated genes. Regardless of clinical phenotype, all A-T participants exhibited downregulation of critical genes involved in B cell function (PAX5, CD79A, CD22, and FCRL1) and upregulation of several genes associated with senescence and malignancy, including SERPINE1. These findings indicate that gene expression differences may be associated with phenotypic variability and suggest that DNA methylation regulates expression of critical immune response genes in people with A-T.
journal_name
Sci Repjournal_title
Scientific reportsauthors
McGrath-Morrow SA,Ndeh R,Helmin KA,Khuder B,Rothblum-Oviatt C,Collaco JM,Wright J,Reyfman PA,Lederman HM,Singer BDdoi
10.1038/s41598-020-64514-2subject
Has Abstractpub_date
2020-05-04 00:00:00pages
7479issue
1issn
2045-2322pii
10.1038/s41598-020-64514-2journal_volume
10pub_type
临床试验,杂志文章abstract：:Condensin complexes play crucial roles in chromosome condensation that is a fundamental process to establish the "rod-like" shape of chromosome structure in mitosis. Failure of the chromosome assembly causes chromosome segregation errors and subsequent genomic instability. However, a molecular mechanism that controls ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-05986-7
更新日期：2017-07-17 00:00:00
abstract：:Mathematical modelling has been widely used to predict the effects of perturbations to brain networks. An important example is epilepsy surgery, where the perturbation in question is the removal of brain tissue in order to render the patient free of seizures. Different dynamical models have been proposed to represent ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-43871-7
更新日期：2019-05-14 00:00:00
abstract：:Acid-sensing ion channels (ASICs) belong to the degenerin/epithelial sodium channel protein family that form mechanosensitive ion channels. Evidence as to whether or not ASICs activity is directly modulated by mechanical force is lacking. Human ASICs (hASIC1V3, hASIC2a and hASIC3a) were heterologously expressed as hom...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-43097-7
更新日期：2019-05-01 00:00:00
abstract：:Crotoxin (CTX) is the primary toxin of South American rattlesnake Crotalus durissus terrificus venom. CTX reduces tumour mass, and tumour cell proliferation and these effects seem to involve the formation of new vessels. Angiogenesis has a key role in tumour growth and progression and is regulated by macrophage secret...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-40903-0
更新日期：2019-03-12 00:00:00
abstract：:A plasmonic Ag/TiO2 photocatalytic composite was designed by selecting Ag quantum dots (Ag QDs) to act as a surface plasmon resonance (SPR) photosensitizer for driving the visible-light driven photoelectrocatalytic hydrogen evolution. Vertically oriented hierarchical TiO2 nanotube arrays (H-TiO2-NTAs) with macroporous...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep10461
更新日期：2015-06-12 00:00:00
abstract：:The process of second-harmonic generation (SHG) in a finite one-dimensional nonlinear medium is analyzed in parallel by the Green-function technique and the Fourier-transform method. Considering the fundamental pump field propagating along a given direction and eliminating back-reflections at the boundaries the terms ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-39260-9
更新日期：2019-03-20 00:00:00
abstract：:A fundamental challenge for behavioral neuroscientists is to accurately quantify (dis)similarities in animal behavior without excluding inherent variability present between individuals. We explored two new applications of curve and shape alignment techniques to address this issue. As a proof-of-concept we applied thes...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-52300-8
更新日期：2019-11-12 00:00:00
abstract：:A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper. ...
journal_title：Scientific reports
pub_type： 已发布勘误
doi：10.1038/s41598-018-28914-9
更新日期：2018-08-10 00:00:00
abstract：:Previous studies have documented that decompression led to endothelial dysfunction with controversial results. This study aimed to clarify the relationship between endothelial dysfunction, bubble formation and decompression rate. Rats were subjected to simulated air dives with one of four decompression rates: one slow...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep33390
更新日期：2016-09-12 00:00:00
abstract：:Small ruminants, including sheep and goats are natural hosts of scrapie, and the progression of scrapie pathogenesis is strongly influenced by polymorphisms in the prion protein gene (PRNP). Although Korean native goats have been consumed as meat and health food, the evaluation of the susceptibility to scrapie in thes...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-51621-y
更新日期：2019-10-25 00:00:00
abstract：:Accurate estimation of carrier probabilities of cancer susceptibility gene mutations is an important part of pre-test genetic counselling. Many predictive models are available but their applicability in the Asian population is uncertain. We evaluated the performance of five BRCA mutation risk predictive models in a Ch...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-46707-6
更新日期：2019-07-15 00:00:00
abstract：:The significant risk of disease transmission has selected for effective immune-defense strategies in insect societies. Division of labour, with individuals specialized in immunity-related tasks, strongly contributes to prevent the spread of diseases. A trade-off, however, may exist between phenotypic specialization to...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-65780-w
更新日期：2020-06-02 00:00:00
abstract：:To investigate how consensus is reached on a large self-organized peer-to-peer network, we extended the naming game model commonly used in language and communication to Naming Game in Groups (NGG). Differing from other existing naming game models, in NGG everyone in the population (network) can be both speaker and hea...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep06149
更新日期：2014-08-21 00:00:00
abstract：:HIV subtypes or clades differentially induce HIV-associated neurocognitive disorders (HAND) and substance abuse is known to accelerate HIV disease progression. The HIV-1 envelope protein gp120 plays a major role in binding and budding in the central nervous system (CNS) and impacts dopaminergic functions. However, the...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep11130
更新日期：2015-06-09 00:00:00
abstract：:Platelet-driven reduction in blood clot volume (clot contraction or retraction) has been implicated to play a role in hemostasis and thrombosis. Although these processes are often linked with inflammation, the role of inflammatory cells in contraction of blood clots and thrombi has not been investigated. The aim of th...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-05601-9
更新日期：2017-07-11 00:00:00
abstract：:Recent studies demonstrated that sinogram affirmed iterative reconstructions (SAFIRE) can produce higher-resolution images with greater robustness for the reduction of various imaging artefacts. Eighty-five patients were prospectively evaluated and underwent a high-pitch spiral acquisition CT scan. In-stent noise, sig...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-07499-9
更新日期：2017-07-31 00:00:00
abstract：:The study aimed to explore the epidemiology and clinical characteristics of chronic osteomyelitis observed in a northern China hospital. Clinical data of 255 patients with chronic osteomyelitis from January 2007 to January 2014 were collected and analyzed, including general information, disease data, treatment and fol...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-33106-6
更新日期：2018-10-05 00:00:00
abstract：:Cd3As2 has long been known as a high-mobility semiconductor. The recent finding of a topological semimetal state in this compound has demanded growth of epitaxial films with high crystallinity and controlled thickness. Here we report the structural characterisation of Cd3As2 films grown on SrTiO3 substrates by solid-p...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-20758-7
更新日期：2018-02-02 00:00:00
abstract：:In this work layered copper films with smooth surface were successfully fabricated onto ITO substrate by electrochemical deposition (ECD) and the thickness of the films was nearly 60 nm. The resulting films were characterized by SEM, TEM, AFM, XPS, and XRD. We have investigated the effects of potential and the concent...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep34779
更新日期：2016-10-13 00:00:00
abstract：:Mitochondria behave as functional and structural hubs for innate defense against intracellular infection. While the mitochondrial membrane serves as a platform for the assembly of signaling complexes activated by intracellular infection, various danger molecules derived from impaired mitochondria activate innate signa...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-68053-8
更新日期：2020-07-07 00:00:00
abstract：:Several studies have shown that dysmenorrhea increased the risk of depression. However, the association between dysmenorrhea and postpartum depression (PPD) is unclear. The purpose of this study is to evaluate the effects of dysmenorrhea on the development of PPD among Chinese women. A case-control study was performed...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-53059-8
更新日期：2019-11-12 00:00:00
abstract：:Moisture in materials can be a source of future outgassing and exacerbate unwanted changes in physical and chemical properties. Here, we investigate the effect of sample size and shape on the moisture transport phenomena through a combined experimental and modeling approach. Several different materials varying in size...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-74898-w
更新日期：2020-10-20 00:00:00
abstract：:The non-protein amino acid β-methylamino-L-alanine (BMAA) is a neurotoxin present in microalgae and shown to accumulate in the food web. BMAA has been linked to the complex neurodegenerative disorder of Guam and to increased incidents sporadic ALS. Two main neurotoxic routes are suggested; an excitotoxic by acting as ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep29631
更新日期：2016-07-12 00:00:00
abstract：:Bioactive gibberellins (GAs) are essential phytohormones involved in the regulation of many aspects of plant development. GA receptors are crucial in GA signal transduction in plants. The GA receptor GoGID1 promotes plant elongation and improves biomass production when ectopically expressed in tobacco. Here, we discov...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep41296
更新日期：2017-01-27 00:00:00
abstract：:Raman spectroscopy is a powerful analytical method that allows deposited and/or immobilized cells to be evaluated without complex sample preparation or labeling. However, a main limitation of Raman spectroscopy in cell analysis is the extremely weak Raman intensity that results in low signal to noise ratios. Therefore...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep13150
更新日期：2015-08-27 00:00:00
abstract：:Climate change profoundly influences the geospatial distribution of secondary metabolites and causes the geographical migration of plants. We planted seedlings of the same species in eighteen ecological regions along a latitudinal gradient in eastern and western China, in order to explore the regulation of multi-clima...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-36729-x
更新日期：2019-01-29 00:00:00
abstract：:The attenuated Sabin strains contained in the oral poliomyelitis vaccine are genetically unstable, and their circulation in poorly immunized populations can lead to the emergence of pathogenic circulating vaccine-derived polioviruses (cVDPVs). The recombinant nature of most cVDPV genomes and the preferential presence ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep38831
更新日期：2016-12-13 00:00:00
abstract：:Gold nanoparticles have particular properties distinct from those of bulk gold crystals, and such nanoparticles are used in various applications in optics, catalysis, and drug delivery. Many reports on microbial synthesis of gold nanoparticles have appeared. However, the molecular details (reduction and dispersion) of...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep34626
更新日期：2016-10-11 00:00:00
abstract：:Genome editing via CRISPR/Cas9 has become an efficient and reliable way to make precise, targeted changes to the genome of living cells. CXCR4 is a co-receptor for the human immunodeficiency virus type 1 (HIV-1) infection and has been considered as an important therapeutic target for AIDS. CXCR4 mediates viral entry i...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep15577
更新日期：2015-10-20 00:00:00
abstract：:Advanced age is associated with a decline in cognitive function, likely caused by a combination of modifiable and non-modifiable factors such as genetics and lifestyle choices. Mounting evidence suggests that humanin and other mitochondrial derived peptides play a role in several age-related conditions including neuro...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-32616-7
更新日期：2018-09-21 00:00:00
