Abstract:
:Hirschsprung disease (HSCR) is a common cause of functional colonic obstruction in children. The currently available genetic testing is often inadequate as it mainly focuses on RET and several other genes, accounting for only 15-20% of cases. To identify novel, potentially pathogenic variants, we isolated a panel of genes from a whole-exome sequencing study and from the published mouse aganglionosis phenotypes, enteric nervous system development, and a literature review. The coding exons of 172 genes were analyzed in 83 sporadic patients using next-generation sequencing. Rare stop-gain, splice-site variants, frameshift and in-frame insertions/deletions and non-synonymous variants (conserved and predicted to be deleterious) were prioritized as the most promising variants to have an effect on HSCR and subjected to burden analysis. GeneMANIA interaction database was used to identify protein-protein interaction-based networks. In addition, 6 genes (PTPN13, PHKB, AGL, ZFHX3, LAMA1, and AP3B2) were prioritized for follow-up studies: both their time-space expression patterns in mouse and human colon showed that they are good candidates for predicting pathogenicity. The results of this study broaden the mutational spectrum of HSCR candidate genes, and they provide an insight into the relative contributions of individual genes to this highly heterogeneous disorder.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Zhang Z,Li Q,Diao M,Liu N,Cheng W,Xiao P,Zou J,Su L,Yu K,Wu J,Li L,Jiang Qdoi
10.1038/s41598-017-14835-6subject
Has Abstractpub_date
2017-11-01 00:00:00pages
14796issue
1issn
2045-2322pii
10.1038/s41598-017-14835-6journal_volume
7pub_type
临床试验,杂志文章abstract::Alcohol consumption has been shown to cause dysbiosis, but the mechanism involved in it is unknown. Recurrent colitis is known to induce expression of α-defensins in the colon, but the effect of alcohol consumption on it is not known. We investigated the effect of ethanol on α-defensin expression in the small intestin...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-34263-4
更新日期:2018-11-02 00:00:00
abstract::Crimean-Congo hemorrhagic fever virus (CCHFV), a tick-borne bunyavirus, can cause a life-threatening hemorrhagic syndrome in humans but not in its animal host. The virus is widely distributed throughout southeastern Europe, the Middle East, Africa, and Asia. Disease management has proven difficult and there are no bro...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-44210-6
更新日期:2019-05-23 00:00:00
abstract::To achieve six degree-of-freedom autonomous navigation of an inboard spacecraft, a novel algorithm called iterative closest imaging point (ICIP) is proposed, which deals with the pose estimation problem of a vision navigation system (VNS). This paper introduces the basics of the ICIP algorithm, including mathematical ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-17768-2
更新日期:2017-12-12 00:00:00
abstract::The importance of evaluating physical cues in cancer research is gradually being realized. Assessment of cancer cell physical appearance, or phenotype, may provide information on changes in cellular behavior, including migratory or communicative changes. These characteristics are intrinsically different between malign...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep12083
更新日期:2015-07-13 00:00:00
abstract::Insecticides and other agrochemicals have become indispensable components of the agricultural system to ensure a notable increase in crop yield and food production. As a natural consequence, chemical residues result in significantly increased contamination of both terrestrial and aquatic ecosystems. The present study ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-76638-6
更新日期:2020-11-11 00:00:00
abstract::In the surface-enhanced fluorescence (SEF) process, it is well known that the plasmonic nanostructure can enhance the light emission of fluorescent emitters. With the help of atomic force microscopy, a hybrid system consisting of a fluorescent nanodiamond and a gold nanoparticle was assembled step-by-step for in situ ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-22019-z
更新日期:2018-02-26 00:00:00
abstract::Tsunamis can propagate thousands of kilometres across the ocean. Precise calculations of arrival times are essential for reliable early warning systems, determination of source and earth properties using the inverse problem, and time series modulation due to frequency dependency of phase speed. Far field observatories...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-52475-0
更新日期:2019-11-14 00:00:00
abstract::gH625 constitutes a promising delivery vehicle for the transport of therapeutic biomacromolecules across membrane barriers. We report an application of multivalency to create a complex nanosystem for delivery and to elucidate the mechanism of peptide-lipid bilayer interactions. Multivalency may offer a route to enhanc...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-09001-x
更新日期:2017-08-25 00:00:00
abstract::Changes in climate extremes pose far-reaching consequences to ecological processes and hydrologic cycles in alpine ecosystems of the arid mountain regions. Therefore, regional assessments in various climates and mountain regions are needed for understanding the uncertainties of the change trends for extreme climate ev...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-02345-4
更新日期:2017-05-22 00:00:00
abstract::The myxozoan parasite, Tetracapsuloides bryosalmonae has a two-host life cycle alternating between freshwater bryozoans and salmonid fish. Infected fish can develop Proliferative Kidney Disease, characterised by a gross lymphoid-driven kidney pathology in wild and farmed salmonids. To facilitate an in-depth understand...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-77881-7
更新日期:2021-01-25 00:00:00
abstract::Many slow-moving biological systems like seashells and zebrafish that do not contend with wall turbulence have somewhat organized pigmentation patterns flush with their outer surfaces that are formed by underlying autonomous reaction-diffusion (RD) mechanisms. In contrast, sharks and dolphins contend with wall turbule...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep06650
更新日期:2014-10-23 00:00:00
abstract::Individuals with Angelman syndrome (AS) are characterized by severe cognitive impairments alongside an enhanced drive for social engagement. As knowledge on imitation skills in this population is limited, we conducted the first controlled study of imitation in AS. We examined how 23 individuals with AS and 21 typicall...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-72079-3
更新日期:2020-10-02 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::Despite advances in diabetic wound care, the significant number of amputations that occur every year demands more effective therapeutics. Herein, we offer an aminated polyethersulfone nanofiber-expanded human umbilical cord blood-derived CD34+ cells (henceforth CD34+ cells) effective therapy, tested in cutaneous wound...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-44932-7
更新日期:2019-06-10 00:00:00
abstract::The nanoscale molecular assembly of mammalian viruses during their infectious life cycle remains poorly understood. Their small dimensions, generally bellow the 300nm diffraction limit of light microscopes, has limited most imaging studies to electron microscopy. The recent development of super-resolution (SR) light m...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep29132
更新日期:2016-07-04 00:00:00
abstract::An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...
journal_title:Scientific reports
pub_type: 已发布勘误
doi:10.1038/s41598-020-57947-2
更新日期:2020-01-30 00:00:00
abstract::The majority of genes encoding photosynthesis-associated proteins in the nucleus are induced by light during photomorphogenesis, allowing plants to establish photoautotrophic growth. Therefore, optimizing the protein import apparatus of plastids, designated as the translocon at the outer and inner envelope membranes o...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-76939-w
更新日期:2020-11-20 00:00:00
abstract::Acute kidney disease (AKD), or renal dysfunction persisting >7 days after an initiating event of acute kidney injury, is a rising concern. This study aimed to elucidate the clinical course of AKD after cardiac surgery with data on post-cardiac surgery patients admitted to intensive care units (ICU) at 18 Japanese hosp...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-62981-1
更新日期:2020-04-16 00:00:00
abstract::Mesenchymal stem cells (MSCs) are highly plastic cells that are able to transdifferentiate or dedifferentiate under appropriate conditions. In the present study, we reported here that after in vitro induction of osteogenic differentiation, MSCs could be reverted to a primitive stem cell population (dedifferentiated os...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep11056
更新日期:2015-06-08 00:00:00
abstract::An unresolved mystery in the field of spinal muscular atrophy (SMA) is why a reduction of the ubiquitously expressed Smn protein causes defects mostly in motoneurons. We addressed the possibility that this restricted vulnerability stems from elevated Smn expression in motoneurons. To explore this, we established an ex...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep27470
更新日期:2016-06-07 00:00:00
abstract::The evolution of sexual reproduction remains a fascinating enigma in biology. Theoretically, populations of sexual organisms investing half of their resources into producing male offspring that don't contribute to reproduction should grow at only half the rate of their asexual counterparts. This demographic disadvanta...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep23982
更新日期:2016-04-01 00:00:00
abstract::We report on a novel electrically tunable hybrid graphene-gold Fano resonator. The proposed metamaterial consists of a square graphene patch and a square gold frame. The destructive interference between the narrow- and broadband dipolar surface plasmons, which are induced respectively on the surfaces of the graphene p...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep02105
更新日期:2013-01-01 00:00:00
abstract::Stress-induced alteration in endothelial cells (ECs) integrity precedes the development of atherosclerosis. Previous studies showed that the soluble recombinant thrombomodulin (rTM) not only increases ECs proliferation but also exerts anti-apoptotic activity in ECs. However, the functional significance of soluble rTM ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-03443-z
更新日期:2017-06-12 00:00:00
abstract::Society's increasing interactions with technology are creating extensive "digital traces" of our collective human behavior. These new data sources are fuelling the rapid development of the new field of computational social science. To investigate user attention to the Hurricane Sandy disaster in 2012, we analyze data ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep03141
更新日期:2013-11-05 00:00:00
abstract::Passive immunotherapy may have particular benefits for the treatment of severe influenza infection in at-risk populations, however little is known of the impact of passive immunotherapy on the formation of memory responses to the virus. Ideally, passive immunotherapy should attenuate the severity of infection while st...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep29154
更新日期:2016-07-06 00:00:00
abstract::Recent research shows that continuous overgrazing not only causes grassland biodiversity to decline, but also causes light fungal disease. Achnatherum inebrians is susceptible to fungal diseases and increases in prevalence during over grazing due its toxicity to livestock. This study aimed to examine the effects of A....
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep30635
更新日期:2016-09-16 00:00:00
abstract::Obesity is characterized as the excessive accumulation of body fat and has a complex genetic foundation in humans including monogenic high-risk mutations and polygenic contributions. Domestic pigs represent a valuable model on an obesity-promoting high-caloric diet while constantly evaluated for body characteristics. ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-08961-4
更新日期:2017-08-22 00:00:00
abstract::Prostate cancer (PCa) is the most common malignancy and second leading cause of cancer-related deaths in American men. Proliferating cells have higher need for nutrients and oxygen, triggering angiogenesis that plays a critical role in tumor growth, progression and metastasis. Consequently, immense focus has converged...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-27831-1
更新日期:2018-06-22 00:00:00
abstract::We present theoretical results on the high-temperature phase stability and phonon spectra of paramagnetic bcc iron which explicitly take into account many-body effects. Several peculiarities, including a pronounced softening of the [110] transverse (T1) mode and a dynamical instability of the bcc lattice in harmonic a...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep05585
更新日期:2014-07-07 00:00:00
abstract::The visual magnocellular system is thought to play a crucial role in learning to read. Here therefore, we examined whether magnocellular based training could improve reading in children with visual reading problems. The participants were 24 male primary school students aged between 9-11 (Mean = 9.76, SD = 0.59) with s...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-37753-7
更新日期:2019-02-04 00:00:00