Abstract：
:Congenital cataract is the most frequent inherited ocular disorder and the most leading cause of lifelong visual loss. The screening of pathogenic mutations can be very challenging in some cases, for congenital cataracts are clinically and genetically heterogeneous diseases. The aim of this study is to investigate the mutation spectrum and frequency of 54 cartaract-associated genes in 27 Chinese families with congenital cataracts. Variants in 54 cataract-associated genes were screened by targeted next-generation sequencing (NGS) and then validated by Sanger sequencing. We identified pathogenic variants in 62.96% (17/27) of families, and over 52.94% (9/17) of these variants were novel. Among them, three are splicing site mutations, four are nonsense mutations, seven are missense mutations, two are frame shift mutations and one is intronic mutation. This included identification of: complex ocular phenotypes due to two novel PAX6 mutations; progressive cortical cataract and lamellar cataract with lens subluxation due to two novel CRYGS mutations. Mutations were also found in rarely reported genes including CRYBA4, CRYBA2, BFSP1, VIM, HSF4, and EZR. Our study expands the mutation spectrum and frequency of genes responsible for congenital cataracts. Targeted next-generation sequencing in inherited congenital cataract patients provided significant diagnostic information.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Zhai Y,Li J,Yu W,Zhu S,Yu Y,Wu M,Sun G,Gong X,Yao Kdoi
10.1038/s41598-017-01182-9subject
Has Abstractpub_date
2017-04-27 00:00:00pages
1219issue
1issn
2045-2322pii
10.1038/s41598-017-01182-9journal_volume
7pub_type
杂志文章abstract：:Electrochemically active bacteria (EAB) are ubiquitous in environment and have important application in the fields of biogeochemistry, environment, microbiology and bioenergy. However, rapid and sensitive methods for EAB identification and evaluation of their extracellular electron transfer ability are still lacking. ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep01315
更新日期：2013-01-01 00:00:00
abstract：:One of the hallmarks of cancers is their ability to develop resistance against therapeutic agents. Therefore, developing effective in vitro strategies to identify drug resistance remains of paramount importance for successful treatment. One of the ways cancer cells achieve drug resistance is through the expression of ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-56273-6
更新日期：2019-12-27 00:00:00
abstract：:In this study we measured the degrees to which the Schottky barrier heights (SBHs) are lowered in ZnO nanowire (NW) devices under illumination with UV light. We measured the I-V characteristics of ZnO nanowire devices to confirm that ZnO is an n-type semiconductor and that the on/off ratio is approximately 10(4). From...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep15123
更新日期：2015-10-12 00:00:00
abstract：:Lipid mediators play pivotal roles in colorectal cancer and colitis, but only a limited member of the phospholipase A2 (PLA2) subtypes, which lie upstream of various lipid mediators, have been implicated in the positive or negative regulation of these diseases. Clinical and biochemical evidence suggests that secreted ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-12434-z
更新日期：2017-09-25 00:00:00
abstract：:The incidence of myopia is increasing worldwide, and the investigation on pathophysiology of myopia is becoming more important. This retrospective study aimed to compare the thicknesses of individual retinal layers between high-myopic and control eyes, and to evaluate the effects of age and sex on each retinal layer t...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-50306-w
更新日期：2019-09-30 00:00:00
abstract：:Silver nanobelts (AgNBs) have attracted a great interest due to their excellent electrical conductivity and mechanical strength, leading a facile synthesis of these AgNBs in great demand. In here, we are reporting a simple, aqueous phase, size tunable synthesis of smooth surfaced 1D-silver nanobelts using a Polyanilin...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep44796
更新日期：2017-03-20 00:00:00
abstract：:Alcohol dependence (AD) and aggression-impulsivity are both associated with increased suicide risk. There is a need to evaluate clinical tools in order to improve suicide risk assessment of AD patients. The present study consisted of 95 individuals with a diagnosis of AD, consecutively admitted for addiction treatment...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep19373
更新日期：2016-01-19 00:00:00
abstract：:Cas13 endonuclease activity depends on the RNA local secondary structure with strong preference for single-stranded (SS) regions. Hence, it becomes indispensable to identify the SS regions for effective Cas13 mediated RNA knockdown. We herein present rational gRNA design by integrating experimental structure-seq data ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-68459-4
更新日期：2020-07-14 00:00:00
abstract：:3D printing has produced many beneficial applications for surgery. The technique´s applicability in replicating nasal cavity anatomy for clinical use has not been studied. Our aim was to determine whether 3D printing could realistically replicate the nasal cavities and the airflow passing through them from a clinical ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-57537-2
更新日期：2020-01-16 00:00:00
abstract：:Myocardial infarction (MI) can result in sympathetic nerve loss in the infarct region. However, the contribution of hypo-innervation to electrophysiological remodeling, independent from MI-induced ischemia and fibrosis, has not been comprehensively investigated. We present a novel mouse model of regional cardiac sympa...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-75903-y
更新日期：2020-11-02 00:00:00
abstract：:Inflammation plays central roles in the immune response. Inflammatory response normally requires higher energy and therefore is associated with glucose metabolism. Our recent study demonstrates that lncRNA HOTAIR plays key roles in NF-kB activation, cytokine expression, and inflammation. Here, we investigated if HOTAI...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-80291-4
更新日期：2021-01-08 00:00:00
abstract：:The use of agrochemicals in vegetable production could influence the selection for insecticide resistance in malaria vectors. Unfortunately, there is a dearth of information on the potential contribution of agrochemicals to insecticide resistance in Anopheles mosquitoes breeding on vegetable farms in southern Benin. A...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-63086-5
更新日期：2020-04-14 00:00:00
abstract：:Emergence of drug-resistant strains of the pathogen Mycobacterium tuberculosis (Mtb) and the ineffectiveness of BCG in curtailing Mtb infection makes vaccine development for tuberculosis an important objective. Identifying immunogenic CD8+ T cell peptide epitopes is necessary for peptide-based vaccine strategies. We p...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep04632
更新日期：2014-04-23 00:00:00
abstract：:A Quality Improvement bundle was implemented with the goal of standardizing the multidisciplinary approach to delivery room management. We used a Pre-Post Quality Improvement initiative with the following aims: (1) Placement of a functioning pulse oximeter by two minutes after birth, (2) Delayed intubation, (3) Normot...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep37397
更新日期：2016-11-21 00:00:00
abstract：:Coating of VO2-based thin film has been extensively studied for fabricating energy-saving smart windows. One of the most efficient ways for fabricating high performance films is to create multi-nanolayered structure. However, it has been highly challenge to make such layers in the VO2-based films using conventional me...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-23412-4
更新日期：2018-03-28 00:00:00
abstract：:The MITF transcription factor is a master regulator of melanocyte development and a critical factor in melanomagenesis. The related transcription factors TFEB and TFE3 regulate lysosomal activity and autophagy processes known to be important in melanoma. Here we show that MITF binds the CLEAR-box element in the promot...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-37522-6
更新日期：2019-01-31 00:00:00
abstract：:Charge density wave (CDW), the periodic modulation of the electronic charge density, will open a gap on the Fermi surface that commonly leads to decreased or vanishing conductivity. On the other hand superconductivity, a commonly believed competing order, features a Fermi surface gap that results in infinite conductiv...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep26974
更新日期：2016-06-02 00:00:00
abstract：:Diabetes is caused by the loss or dysfunction of insulin-secreting β-cells in the pancreas. β-cells reduce their mass and lose insulin-producing ability in vitro, likely due to insufficient cell-cell and cell-extracellular matrix (ECM) interactions as β-cells lose their native microenvironment. Herein, we built an ex-...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep02863
更新日期：2013-10-04 00:00:00
abstract：:Post-transcriptional gene regulation by microRNAs (miRNAs) is involved in memory formation. However, the roles of individual miRNAs in these processes remain largely unknown. In this study, we want to clarify the role of miR-181a in hippocampus-dependent memory formation. A transient increase in miR-181a expression wa...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-09095-3
更新日期：2017-08-16 00:00:00
abstract：:One of the major challenges in olfaction research is to relate the structural features of the odorants to different features of olfactory system. However, no relationship has been yet discovered between the structure of the olfactory stimulus, and the structure of respiratory signal. This study reveals the plasticity ...
journal_title：Scientific reports
pub_type： 杂志文章,收录出版
doi：10.1038/srep26948
更新日期：2016-05-31 00:00:00
abstract：:A number of Bruton's tyrosine kinase (BTK) inhibitors are currently in development, yet it has been difficult to visualize BTK expression and pharmacological inhibition in vivo in real time. We synthesized a fluorescent, irreversible BTK binder based on the drug Ibrutinib and characterized its behavior in cells and in...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep04782
更新日期：2014-04-24 00:00:00
abstract：:Evasion of the potent tumour suppressor activity of p53 is one of the hurdles that must be overcome for cancer cells to escape normal regulation of cellular proliferation and survival. In addition to frequent loss of function mutations, p53 wild-type activity can also be suppressed post-translationally through several...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-28002-y
更新日期：2018-06-26 00:00:00
abstract：:Leukotriene E4 (LTE4) the most stable of the cysteinyl leukotrienes (cysLTs) binds poorly to classical type 1 (CysLT1) and 2 (CysLT2) receptors although it induces potent responses in human airways in vivo, such as bronchoconstriction, airway hyperresponsiveness and inflammatory cell influx suggesting the presence of ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep20461
更新日期：2016-02-02 00:00:00
abstract：:The Schumann Resonances (ScR) are Extremely Low Frequency (ELF) electromagnetic resonances in the Earth-ionosphere cavity excited by global lightning discharges. This natural electromagnetic noise has likely existed on the Earth ever since the Earth had an atmosphere and an ionosphere, hence surrounding us throughout ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-36341-z
更新日期：2019-02-07 00:00:00
abstract：:Despite the efficacy of synthetic fungicides in controlling postharvest diseases, public concerns regarding chemical residues in food and an increase in drug-resistant strains of pathogens have led to a need for new agents to control postharvest diseases. The current study was performed to find control agents of micro...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-49779-6
更新日期：2019-09-19 00:00:00
abstract：:Unlike the constant nature of elastic coefficients of isotropic bulk materials, the Young's (E) and shear (μ) moduli of nano-structured (NS) gyroid metamaterials change with relative density (ρ), but at different rates depending on the cell size of the structure. These elastic behaviors displayed by E and μ cause cros...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-10978-8
更新日期：2017-09-05 00:00:00
abstract：:Extracorporeal membrane oxygenation (ECMO) is used for rescue in severe respiratory and/or circulatory failure. The patient's blood is pumped over artificial surfaces in the ECMO circuit. A platelet activation model was applied to study the potential thrombogenicity of ECMO circuit components: the centrifugal blood pu...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-32247-y
更新日期：2018-09-18 00:00:00
abstract：:Dengue virus (DENV) co-circulation in Brazil represents a challenge for treatment and vaccine development. Despite public health impact, the occurrence of coinfections with other viruses is a common event. Increased T cell activation and altered inflammatory response are found during DENV coinfection with Human Immuno...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-62776-4
更新日期：2020-04-14 00:00:00
abstract：:Targeted antineoplastic agents show great promise in the treatment of cancer, having the ability to impart cytotoxicity only to specific tumor types. However, these therapies do not experience uniform uptake throughout tumors, leading to sub-lethal cell killing that can impart treatment resistance, and cause problemat...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-13803-4
更新日期：2017-10-17 00:00:00
abstract：:Uncertainties over future climatic conditions pose significant challenges when selecting appropriate conservation strategies for heritage sites. Choosing effective strategies is especially important for earthen heritage sites located in dryland regions, as many are experiencing rapid environmentally-driven deteriorati...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-73456-8
更新日期：2020-10-02 00:00:00
