Abstract:
:Study of knockout (KO) mice has helped understand the link between many genes/proteins and human diseases. Identification of infertile KO mice provides valuable tools to characterize the molecular mechanisms underlying gamete formation. The KIAA0319L gene has been described to have a putative association with dyslexia; surprisingly, we observed that homozygous KO males for AU040320, KIAA0319L ortholog, are infertile and present a globozoospermia-like phenotype. Mutant spermatozoa are mostly immotile and display a malformed roundish head with no acrosome. In round spermatids, proacrosomal vesicles accumulate close to the acroplaxome but fail to coalesce into a single acrosomal vesicle. In wild-type mice AU040320 localises to the trans-Golgi-Network of germ cells but cannot be detected in mature acrosomes. Our results suggest AU040320 may be necessary for the normal formation of proacrosomal vesicles or the recruitment of cargo proteins required for downstream events leading to acrosomal fusion. Mutations in KIAA0319L could lead to human infertility; we screened for KIAA0319L mutations in a selected cohort of globozoospermia patients in which no genetic abnormalities have been previously identified, but detected no pathogenic changes in this particular cohort.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Guidi LG,Holloway ZG,Arnoult C,Ray PF,Monaco AP,Molnár Z,Velayos-Baeza Adoi
10.1038/s41598-018-28666-6subject
Has Abstractpub_date
2018-07-10 00:00:00pages
10379issue
1issn
2045-2322pii
10.1038/s41598-018-28666-6journal_volume
8pub_type
杂志文章abstract::In this study, we aimed to elucidate the origin of domestic chickens and their evolutionary history over the course of their domestication. We conducted a large-scale genetic study using mitochondrial DNA D-loop sequences and 28 microsatellite DNA markers to investigate the diversity of 298 wild progenitor red junglef...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-021-81589-7
更新日期:2021-01-21 00:00:00
abstract::Current saliva testing methods rely on cutting edge yet expensive techniques for the detection and analysis of genetic material, proteins and biomarkers for clinical use. However, these techniques are limited in scope and often cannot be used with complex food materials. We propose an efficient ex-vivo tool for evalua...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-31625-w
更新日期:2018-09-06 00:00:00
abstract::The role of soil organic carbon in global carbon cycles is receiving increasing attention both as a potentially large and uncertain source of CO2 emissions in response to predicted global temperature rises, and as a natural sink for carbon able to reduce atmospheric CO2. There is general agreement that the technical p...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-15794-8
更新日期:2017-11-14 00:00:00
abstract::In the 70's, Robert May demonstrated that complexity creates instability in generic models of ecological networks having random interaction matrices A. Similar random matrix models have since been applied in many disciplines. Central to assessing stability is the "circular law" since it describes the eigenvalue distri...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-26486-2
更新日期:2018-05-29 00:00:00
abstract::The chemiresistive thin film gas sensors with fast response, high sensitivity, low power consumption and mass-produced potency, have been expected for practical application. It requires both sensitive materials, especially exquisite nanomaterials, and efficient substrate chip for heating and electrical addressing. How...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep01669
更新日期:2013-01-01 00:00:00
abstract::High mobility channel thin-film-transistor (TFT) is crucial for both display and future generation integrated circuit. We report a new metal-oxide TFT that has an ultra-thin 4.5 nm SnO2 thickness for both active channel and source-drain regions, very high 147 cm(2)/Vs field-effect mobility, high ION/IOFF of 2.3 × 10(7...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep19023
更新日期:2016-01-08 00:00:00
abstract::The development of well-organized structures with high luminescent properties in the solid and aggregated states is of both scientific and technological interest due to their applications in nanotechnology. In this paper we described the synthesis of amphiphilic and dumbbell shaped AIE-active tetraphenylethylene (TPE)...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep42898
更新日期:2017-02-23 00:00:00
abstract::The ability to control the spatial distribution and temporal release of a therapeutic remains a central challenge for biomedical research. Here, we report the development and optimization of a novel substrate mediated therapeutic delivery system comprising of hyaluronic acid covalently functionalized liposomes (HALNPs...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep14683
更新日期:2015-10-01 00:00:00
abstract::Superior cervical ganglion neurons (SCGN) are often used to investigate neurotransmitter release mechanisms. In this study, we optimized the dissociation and culture conditions of rat SCGN cultures for dual patch clamp recordings. Two weeks in vitro are sufficient to achieve a significant CNTF-induced cholinergic swit...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep14455
更新日期:2015-09-24 00:00:00
abstract::West Nile virus (WNV) is a neurotropic pathogen which causes zoonotic disease in humans. Recently, there have been an increasing number of infected cases and there are no clinically approved vaccines or effective drugs to treat WNV infections in humans. The purpose of this study was to facilitate vaccine and antiviral...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-03670-4
更新日期:2017-06-12 00:00:00
abstract::We found that the most suitable flooding disturbance model for regenerating Populus euphratica forest was two to three times per year with a duration of 15-20 days and an intensity of 25-30 m(3)/s. The flooding should take place during the seed emergence to young tree growth stages, and should be based on flooding exp...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep15418
更新日期:2015-10-20 00:00:00
abstract::Approximately 75% of melanomas have known driver oncogenic mutations in BRAF, NRAS, GNA11 or GNAQ, while the mutations providing constitutive oncogenic signaling in the remaining melanomas are not known. We established a melanoma cell line from a tumor with none of the common driver mutations. This cell line demonstra...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep27454
更新日期:2016-06-08 00:00:00
abstract::Nanomedicine development currently suffers from a lack of efficient tools to predict pharmacokinetic behavior without relying upon testing in large numbers of animals, impacting success rates and development costs. This work presents dendPoint, the first in silico model to predict the intravenous pharmacokinetics of d...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-51789-3
更新日期:2019-10-29 00:00:00
abstract::In the Brown et al. study 'Increased food supply mitigates ocean acidification effects on calcification but exacerbates effects on growth' they show disagreement with the tested hypothesis and data analysis methodology used in our 2016 study. We acknowledge careful criticism and a constructive dialogue are necessary t...
journal_title:Scientific reports
pub_type: 评论,杂志文章
doi:10.1038/s41598-018-27670-0
更新日期:2018-06-28 00:00:00
abstract::Glycolipids had received increasing attention because of their uses in various industries like cosmetics, pharmaceuticals, food and machinery manufacture. Microalgae were competitive organisms to accumulate metabolic substance. However, using microalgae to produce glycolipid was rare at present. In this study, glycoli...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep30145
更新日期:2016-07-21 00:00:00
abstract::Ischemia-reperfusion (I/R) injury model has been widely applied to the study of microcirculation disturbance. In this work, we used laser oblique scanning optical microscopy (LOSOM) to observe the microcirculation system in the mesentery of rat model. Utilizing a localized point-scanning detection scheme, high-contras...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep01762
更新日期:2013-01-01 00:00:00
abstract::We study ultrafast ionization dynamics using orthogonally polarized two-color (OTC) laser pulses involving the resonant "first plus second" (ω + 2ω) scheme. The scheme is illustrated by numerical simulations of the time-dependent Schrödinger equation and recording the photoelectron momentum distribution. On the basis ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-57125-z
更新日期:2020-01-14 00:00:00
abstract::A relevant part of embolic strokes of undetermined source (ESUS) is assumed to be cardiogenic. As shown previously, certain biomarkers of endothelial pathology are related to atrial fibrillation (AF). In this long-term follow-up study, we aimed to investigate whether these biomarkers are associated with subsequently d...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-55943-9
更新日期:2019-12-19 00:00:00
abstract::Here we present an ultraviolet responsive inorganic-organic hybrid solar cell based on titania/poly(3-hexylthiophene) (TiO(2)/P3HT) heterojuction. In this solar cell, TiO(2) is an ultraviolet light absorber and electronic conductor, P3HT is a hole conductor, the light-to-electrical conversion is realized by the cooper...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep01283
更新日期:2013-01-01 00:00:00
abstract::Elymus nutans is an herbaceous plant that can be used to restore degraded alpine and subalpine ecosystems. Here, we evaluated how sowing density affects soil reinforcement and slope stabilization properties of vegetation-concrete structures. To investigate the optimal sowing density of E. nutans in vegetation-concrete...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-77407-1
更新日期:2020-11-24 00:00:00
abstract::Phenotypic heterogeneity is an important trait for the development and survival of many microorganisms including the yeast Cryptococcus spp., a deadly pathogen spread worldwide. Here, we have applied scanning electron microscopy (SEM) to define four Cryptococcus spp. capsule morphotypes, namely Regular, Spiky, Bald, a...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-59276-w
更新日期:2020-02-11 00:00:00
abstract::Intravenous immunoglobulin (IVIG) are purified IgG preparations made from the pooled plasma from thousands of healthy donors and are being tested in preclinical mouse models. Inherent challenges, however, are the pluripotency of IVIG and its xenogeneicity in animals. IVIG can alter the viability of human neutrophils v...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-01404-0
更新日期:2017-05-02 00:00:00
abstract::The current study aimed to formulate Selenium-Chitosan-Mupirocin (M-SeNPs-CCH) complex. The nanohybrid system was prepared using chitosan-cetyltrimethylammonium bromide (CTAB)-based hydrogel (CCH) that entrapped mupirocin (M) and selenium nanoparticles (SeNPs). The in vitro studies were performed by evaluation of the ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-59510-5
更新日期:2020-02-18 00:00:00
abstract::For patients with amyotrophic lateral sclerosis (ALS), the primary therapeutic goal is to minimize morbidity. Non-invasive ventilation improves survival. We aim to assess whether Magnetic Resonance Imaging (MRI) of the cervical spinal cord predicts the progression of respiratory disorders in ALS. Brain and spinal MRI ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-19938-2
更新日期:2018-01-29 00:00:00
abstract::Automated patch clamp (APC) instruments enable efficient evaluation of electrophysiologic effects of drugs on human cardiac currents in heterologous expression systems. Differences in experimental protocols, instruments, and dissimilar site procedures affect the variability of IC50 values characterizing drug block pot...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-62344-w
更新日期:2020-03-27 00:00:00
abstract::Ultrasonic spray coating process (USCP) with high material -utilization, low manufacture costs and compatibility to streamline production has been attractive in researches on photoelectric devices. However, surface tension exists in the solvent is still a huge obstacle to realize smooth organic film for organic light ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep37042
更新日期:2016-11-22 00:00:00
abstract::Soil moisture is an important variable for land-climate and hydrological interactions. To investigate emergent large-scale, long-term interactions between soil moisture and other key hydro-climatic variables (precipitation, actual evapotranspiration, runoff, temperature), we analyze monthly values and anomalies of the...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-61621-y
更新日期:2020-03-16 00:00:00
abstract::Tunneling membrane nanotubes (TnTs) are membrane protrusions connecting nearby or distant cells in vitro and in vivo. Functions of TnTs in cellular processes are various and rely on TnT structure, which also depends on cytoskeletal composition. In the present study, we focused on the organization of microtubules (MTs)...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-35370-y
更新日期:2018-11-20 00:00:00
abstract::In the interfacial superconductor Bi2Te3/Fe1+yTe, two dimensional superconductivity occurs in direct vicinity to the surface state of a topological insulator. If this state were to become involved in superconductivity, under certain conditions a topological superconducting state could be formed, which is of high inter...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep32508
更新日期:2016-09-02 00:00:00
abstract::It is notable that the adoption of GM glyphosate-tolerant crops increases glyphosate use but reduces non-glyphosate herbicide use; and adoption of GM insect-resistant crops significantly reduces insecticide use. While the health hazard of pesticide use has been well documented, little literature evaluates the health e...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep34918
更新日期:2016-10-10 00:00:00