Abstract：
:Congenital glaucoma (CG) is a heterogeneous, inherited and severe optical neuropathy that originates from maldevelopment of the anterior segment of the eye. To identify new disease genes, we performed whole-exome sequencing of 26 unrelated CG patients. In one patient we identified two rare, recessive and hypermorphic coding variants in GPATCH3, a gene of unidentified function, and 5% of a second group of 170 unrelated CG patients carried rare variants in this gene. The recombinant GPATCH3 protein activated in vitro the proximal promoter of CXCR4, a gene involved in embryo neural crest cell migration. The GPATCH3 protein was detected in human tissues relevant to glaucoma (e.g., ciliary body). This gene was expressed in the dermis, skeletal muscles, periocular mesenchymal-like cells and corneal endothelium of early zebrafish embryos. Morpholino-mediated knockdown and transient overexpression of gpatch3 led to varying degrees of goniodysgenesis and ocular and craniofacial abnormalities, recapitulating some of the features of zebrafish embryos deficient in the glaucoma-related genes pitx2 and foxc1. In conclusion, our data suggest the existence of high genetic heterogeneity in CG and provide evidence for the role of GPATCH3 in this disease. We also show that GPATCH3 is a new gene involved in ocular and craniofacial development.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Ferre-Fernández JJ,Aroca-Aguilar JD,Medina-Trillo C,Bonet-Fernández JM,Méndez-Hernández CD,Morales-Fernández L,Corton M,Cabañero-Valera MJ,Gut M,Tonda R,Ayuso C,Coca-Prados M,García-Feijoo J,Escribano Jdoi
10.1038/srep46175subject
Has Abstractpub_date
2017-04-11 00:00:00pages
46175issn
2045-2322pii
srep46175journal_volume
7pub_type
杂志文章abstract：:A series of nanocomposites of cobalt embedded in N-doped nanoporous carbons, carbon nanotubes or hollow carbon onions have been synthesized by a one-step carbonization of metal-organic-framework ZIF-67. The effect of the carbonization temperature on the structural evolution of the resulting nanocomposites has been inv...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-05636-y
更新日期：2017-07-13 00:00:00
abstract：:People who used illicit drugs (PWUDs) represent an important population group for acquisition and viral dispersion. In Brazil, high rates of the human T lymphotropic virus 1 (HTLV-1) and 2 (HTLV-2) have been reported in epidemiological studies. However, the epidemiological scenario of HTLV-1/2 infections in PWUDs is s...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-51383-7
更新日期：2019-10-14 00:00:00
abstract：:Critically endangered sturgeons, having undergone three whole genome duplication events, represent an exceptional example of ploidy plasticity in vertebrates. Three extant ploidy groups, combined with autopolyploidization, interspecific hybridization and the fertility of hybrids are important issues in sturgeon conser...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-76680-4
更新日期：2020-11-12 00:00:00
abstract：:In this paper, we analyze the synchronization problem of master-slave probabilistic Boolean networks (PBNs). The master Boolean network (BN) is a deterministic BN, while the slave BN is determined by a series of possible logical functions with certain probability at each discrete time point. In this paper, we firstly ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep13437
更新日期：2015-08-28 00:00:00
abstract：:Blockage of pores by particles is found in many processes, including filtration and oil extraction. We present filtration experiments through a linear array of ten channels with one dimension which is sub-micron, through which a dilute dispersion of Brownian polystyrene spheres flows under the action of a fixed pressu...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-30389-7
更新日期：2018-08-20 00:00:00
abstract：:Dysregulation of iron metabolism, and resultant cytotoxicity, has been implicated in the pathogenesis of multiple sclerosis (MS) and other neurodegenerative processes. Iron accumulation promotes cytotoxicity through various mechanisms including oxidative stress and glutamate toxicity, and occurs in both MS patients an...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-48087-3
更新日期：2019-08-12 00:00:00
abstract：:In this report, we investigate the stabilization of saddle fixed points in coupled oscillators where individual oscillators exhibit the saddle fixed points. The coupled oscillators may have two structurally different types of suppressed states, namely amplitude death and oscillation death. The stabilization of saddle ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep45909
更新日期：2017-04-05 00:00:00
abstract：:A novel NaAgMoO4 material with spinel-like structure was synthesized by using the solid state reaction method and the ceramic sample was well densified at an extreme low sintering temperature about 400°C. Rietveld refinement of the crystal structure was performed using FULLPROF program and the cell parameters are a = ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep05980
更新日期：2014-08-07 00:00:00
abstract：:The Y-box proteins are multifunctional nucleic acid-binding proteins involved in various aspects of gene regulation. The founding member of the Y-box protein family, YB-1, functions as a transcription factor as well as a principal component of messenger ribonucleoprotein particles (mRNPs) in somatic cells. The nuclear...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-24401-3
更新日期：2018-04-18 00:00:00
abstract：:While much of memory research takes an observer-centric focus looking at participant performance, recent work has pinpointed important item-centric effects on memory, or how intrinsically memorable a given stimulus is. However, little is known about the neural correlates of memorability during memory retrieval, or how...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-26467-5
更新日期：2018-06-06 00:00:00
abstract：:Light-sheet fluorescence microscopy has emerged as a powerful platform for 3-D volumetric imaging in the life sciences. Here, we introduce an important step towards its use deep inside biological tissue. Our new technique, based on digital holography, enables delivery of the light-sheet through a multimode optical fib...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep18050
更新日期：2015-12-14 00:00:00
abstract：:The central dogma of molecular biology describes the translation of genetic information from mRNA to protein, but does not specify the quantitation or timing of this process across the genome. We have analyzed protein and gene expression in a diverse set of human tissues. To study concordance and discordance of gene a...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep24799
更新日期：2016-05-04 00:00:00
abstract：:Attention can be allocated to mental representations to select information from working memory. To date, it remains ambiguous whether such retroactive shifts of attention involve the inhibition of irrelevant information or the prioritization of relevant information. Investigating asymmetries in posterior alpha-band os...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-70004-2
更新日期：2020-08-17 00:00:00
abstract：:The Law of the Minimum is often implemented using t-norm or fuzzy intersection. We propose the use of t-conorm or fuzzy union for climate suitability assessment of a grass species using annual ryegrass (Lolium multiflorum Lam.) as an example and evaluate the performance for alfalfa (Medicago sativa L.) and sorghum (So...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-28291-3
更新日期：2018-07-05 00:00:00
abstract：:Sphingolipids are essential constituents of the plasma membrane (PM) and play an important role in signal transduction by modulating clustering and dynamics of membrane receptors. Changes in lipid composition are therefore likely to influence receptor organisation and function, but how this precisely occurs is difficu...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep20693
更新日期：2016-02-12 00:00:00
abstract：:Extant Crocodylia are exceptional because they employ almost the full range of quadrupedal footfall patterns ("gaits") used by mammals; including asymmetrical gaits such as galloping and bounding. Perhaps this capacity evolved in stem Crocodylomorpha, during the Triassic when taxa were smaller, terrestrial, and long-l...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-55768-6
更新日期：2019-12-17 00:00:00
abstract：:Aedes aegypti mosquitoes are the primary vectors of numerous viruses that impact human health. As manipulation of reproduction has been proposed to suppress mosquito populations, elucidation of biological processes that enable males and females to successfully reproduce is necessary. One essential process is female sp...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-71904-z
更新日期：2020-09-10 00:00:00
abstract：:Diffusion tensor imaging (DTI) studies have detected white matter microstructural changes in essential tremor (ET). However, it is still unclear whether these changes are related to cognitive deficits, which have been described in ET patients. DTI-derived fractional anisotropy, mean diffusivity (MD), axial diffusivity...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-02596-1
更新日期：2017-06-07 00:00:00
abstract：:Accurate cancer diagnosis often requires extraction and purification of genetic materials from cells, and sophisticated instrumentations that follow. Otherwise in order to directly treat the diagnostic materials to cells, multiple steps to optimize dose concentration and treatment time are necessary due to diversity i...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep18497
更新日期：2015-12-18 00:00:00
abstract：:The global increase in Diabetes Mellitus (DM) has led to an increase in DM-Chronic Kidney Disease (DM-CKD). In this cross-sectional observational study we aimed to define phenotypes for patients with DM-CKD that in future may be used to individualise treatment We report 4 DM-CKD phenotypes in 220 patients recruited fr...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-18595-1
更新日期：2018-01-08 00:00:00
abstract：:Two novel species of the fungal genus Ochroconis, O. lascauxensis and O. anomala have been isolated from the walls of the Lascaux Cave, France. The interest in these fungi and their melanins lies in the formation of black stains on the walls and rock art which threatens the integrity of the paintings. Here we report s...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-13862-7
更新日期：2017-10-18 00:00:00
abstract：:Histological chorioamnionitis (HCA) is an infection of fetal membranes and complicates 5.2% to 28.5% of all live births. HCA is associated with increased mortality and morbidity in both premature and term neonates. Exposure to HCA may have long-term consequences, including an increased risk for allergic disorders and ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-42205-x
更新日期：2019-04-10 00:00:00
abstract：:The Farnesoid X receptor (FXR) regulates bile salt, glucose and cholesterol homeostasis by binding to DNA response elements, thereby activating gene expression (direct transactivation). FXR also inhibits the immune response via tethering to NF-κB (tethering transrepression). FXR activation therefore has therapeutic po...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep14086
更新日期：2015-09-15 00:00:00
abstract：:We developed a new technique to observe macroautophagy in the brain in vivo, and examined whether fasting induced macroautophagy in neurons and how the induction was different between Alzheimer's disease (AD) model and control mice. Lentivirus for EGFP-LC3 injected into the brain successfully visualized autophagosome ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep12115
更新日期：2015-07-14 00:00:00
abstract：:We report command electro-optical switching on photolithographically-patterned graphene into a high-density electrode pattern for a high-transmission in-plane-switching (IPS) liquid crystal device. A highly-effective liquid crystal photoalignment method is used to maximize the field-driven optical contrast of a protot...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-11903-9
更新日期：2017-09-18 00:00:00
abstract：:Induction chemotherapy treatment for nasopharyngeal carcinoma (NPC) is controversial. The aim of this study was to evaluate the treatment outcomes and toxicities between two induction chemotherapy regimens, with both followed by concurrent chemoradiotherapy. The first strategy used docetaxel, cisplatin and fluorouraci...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-33614-5
更新日期：2018-10-22 00:00:00
abstract：:Cancer patients often use dietary supplements while on therapy, but little is known about interactions of supplements with cancer chemotherapy. Black raspberries (BRB) have anti-cancer effects, but have not been evaluated for interference with chemotherapy for castrate-resistant prostate cancer (CRPC). Here we studied...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-39589-1
更新日期：2019-03-13 00:00:00
abstract：:Human NAD-dependent isocitrate dehydrogenase catalyzes the decarboxylation of isocitrate (ICT) into α-ketoglutarate in the Krebs cycle. It exists as the α2βγ heterotetramer composed of the αβ and αγ heterodimers. Previously, we have demonstrated biochemically that the α2βγ heterotetramer and αγ heterodimer can be allo...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep40921
更新日期：2017-01-18 00:00:00
abstract：:This systematic review and meta-analysis was designed to investigate whether maternal psychological stress and recent life events are associated with an increased risk of miscarriage. A literature search was conducted to identify studies reporting miscarriage in women with and without history of exposure to psychologi...
journal_title：Scientific reports
pub_type： 杂志文章,meta分析
doi：10.1038/s41598-017-01792-3
更新日期：2017-05-11 00:00:00
abstract：:Abnormalities in actin cytoskeleton have been linked to Friedreich's ataxia (FRDA), an inherited peripheral neuropathy characterised by an early loss of neurons in dorsal root ganglia (DRG) among other clinical symptoms. Despite all efforts to date, we still do not fully understand the molecular events that contribute...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-62050-7
更新日期：2020-03-23 00:00:00
