Whole exome sequencing reveals rare variants linked to congenital pouch colon.

Abstract:

:We demonstrate the application of whole exome sequencing to discover the rare variants for congenital pouch colon, acronymed CPC. For 18 affected individuals in a total of 64 samples, we sequenced coding regions to a mean coverage of 100×. A sufficient depth of ca. 94% of targeted exomes was achieved. Filtering against the public SNP/variant repositories, we identified a host of candidate genes, EPB41L4A and CTC1 associated with colon, neural/brain muscles and Dyskeratosis Congenita maladies. Furthermore, the stop gain mutations in the form of JAG1,OR5AR1,SLC22A24,PEX16,TSPAN32,TAF1B,MAP2K3 and SLC25A19 appears to be localized to Chromosomes 2, 11, 17 and 20 in addition to the three stop lost mutants across three genes, viz. OAS2, GBA3 and PKD1L2 affecting the colon tissue. While our results have paved way for transcendence of monogenic traits in identifying the genes underlying rare genetic disorders, it will provide helpful clues for further investigating genetic factors associated with anorectal anomalies, particularly CPC.

journal_name

Sci Rep

journal_title

Scientific reports

authors

Mathur P,Medicherla KM,Chaudhary S,Patel M,Bagali P,Suravajhala P

doi

10.1038/s41598-018-24967-y

subject

Has Abstract

pub_date

2018-04-27 00:00:00

pages

6646

issue

1

issn

2045-2322

pii

10.1038/s41598-018-24967-y

journal_volume

8

pub_type

杂志文章
  • Author Correction: Resistance training regulates gene expression of molecules associated with intramyocellular lipids, glucose signaling and fiber size in old rats.

    abstract::A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper. ...

    journal_title:Scientific reports

    pub_type: 已发布勘误

    doi:10.1038/s41598-019-42462-w

    authors: Ribeiro MBT,Guzzoni V,Hord JM,Lopes GN,de Cássia Marqueti R,de Andrade RV,Selistre-de-Araujo HS,Durigan JLQ

    更新日期:2019-04-17 00:00:00

  • Nonstationary flood coincidence risk analysis using time-varying copula functions.

    abstract::The coincidence of flood flows in a mainstream and its tributaries may lead to catastrophic floods. In this paper, we investigated the flood coincidence risk under nonstationary conditions arising from climate changes. The coincidence probabilities considering flood occurrence dates and flood magnitudes were calculate...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-60264-3

    authors: Feng Y,Shi P,Qu S,Mou S,Chen C,Dong F

    更新日期:2020-02-25 00:00:00

  • Validation of the Kidney Donor Profile Index (KDPI) to assess a deceased donor's kidneys' outcome in a European cohort.

    abstract::The Kidney Donor Profile Index (KDPI) was introduced in the United States in 2014 to guide the decision making of clinicians with respect to accepting or declining a donated kidney. To evaluate whether the KDPI can be applied to a European cohort, we retrospectively assessed 580 adult patients who underwent renal tran...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-019-47772-7

    authors: Dahmen M,Becker F,Pavenstädt H,Suwelack B,Schütte-Nütgen K,Reuter S

    更新日期:2019-08-02 00:00:00

  • A deep learning model for detecting mental illness from user content on social media.

    abstract::Users of social media often share their feelings or emotional states through their posts. In this study, we developed a deep learning model to identify a user's mental state based on his/her posting information. To this end, we collected posts from mental health communities in Reddit. By analyzing and learning posting...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-68764-y

    authors: Kim J,Lee J,Park E,Han J

    更新日期:2020-07-16 00:00:00

  • Screening of Parkinsonian subtle fine-motor impairment from touchscreen typing via deep learning.

    abstract::Fine-motor impairment (FMI) is progressively expressed in early Parkinson's Disease (PD) patients and is now known to be evident in the immediate prodromal stage of the condition. The clinical techniques for detecting FMI may not be robust enough and here, we show that the subtle FMI of early PD patients can be effect...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-69369-1

    authors: Iakovakis D,Chaudhuri KR,Klingelhoefer L,Bostantjopoulou S,Katsarou Z,Trivedi D,Reichmann H,Hadjidimitriou S,Charisis V,Hadjileontiadis LJ

    更新日期:2020-07-28 00:00:00

  • Viewing Majorana Bound States by Rabi Oscillations.

    abstract::We propose to use Rabi oscillation as a probe to view the fractional Josepshon relation (FJR) associated with Majorana bound states (MBSs) expected in one-dimensional topological superconductors. The system consists of a quantum dot (QD) and an rf-SQUID with MBSs at the Josephson junction. Rabi oscillations between en...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep11686

    authors: Wang Z,Liang QF,Yao DX,Hu X

    更新日期:2015-07-08 00:00:00

  • Increased pollinator service and reduced pollen limitation in the fixed dune populations of a desert shrub.

    abstract::Evaluations of restoration success usually focus on the structural aspects of ecosystems. Pollination, as an important functional aspect, is often overlooked. Here, the shifts in pollinator assemblage and pollen limitation in the desert shrub Caragana microphylla were examined along a restoration gradient in Horqin Sa...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-017-17253-w

    authors: Pan CC,Qu H,Feng Q,Liu LD,Zhao HL,Li YL,Li YQ,Zhang TH,Liu XP

    更新日期:2017-12-04 00:00:00

  • Molecular pain markers correlate with pH-sensitive MRI signal in a pig model of disc degeneration.

    abstract::Intervertebral disc (IVD) degeneration is a leading cause of chronic low back pain that affects millions of people every year. Yet identification of the specific IVD causing this pain is based on qualitative visual interpretation rather than objective findings. One possible approach to diagnosing pain-associated IVD c...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-018-34582-6

    authors: Bez M,Zhou Z,Sheyn D,Tawackoli W,Giaconi JC,Shapiro G,Ben David S,Gazit Z,Pelled G,Li D,Gazit D

    更新日期:2018-11-26 00:00:00

  • Distribution of fitness effects of mutations obtained from a simple genetic regulatory network model.

    abstract::Beneficial and deleterious mutations change an organism's fitness but the distribution of these mutational effects on fitness are unknown. Several experimental, theoretical, and computational studies have explored this question but are limited because of experimental restrictions, or disconnect with physiology. Here w...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-019-46401-7

    authors: Brajesh RG,Dutta D,Saini S

    更新日期:2019-07-08 00:00:00

  • Angle-dependent magnetotransport in GaAs/InAs core/shell nanowires.

    abstract::We study the impact of the direction of magnetic flux on the electron motion in GaAs/InAs core/shell nanowires. At small tilt angles, when the magnetic field is aligned nearly parallel to the nanowire axis, we observe Aharonov-Bohm type h/e flux periodic magnetoconductance oscillations. These are attributed to transpo...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep24573

    authors: Haas F,Wenz T,Zellekens P,Demarina N,Rieger T,Lepsa M,Grützmacher D,Lüth H,Schäpers T

    更新日期:2016-04-19 00:00:00

  • Influence of forest stand characteristics on physical, mechanical properties and chemistry of chestnut wood.

    abstract::Site conditions and forest management affect dendrometric parameters of chestnut (Castanea sativa Mill.) coppices, but there is modest knowledge on the effect of stand dendrometric characters on physical and mechanical wood characteristics. The aim of this study was to verify these relationships in chestnut coppices t...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-80558-w

    authors: Marini F,Manetti MC,Corona P,Portoghesi L,Vinciguerra V,Tamantini S,Kuzminsky E,Zikeli F,Romagnoli M

    更新日期:2021-01-15 00:00:00

  • Exploring an optimal wavelet-based filter for cryo-ET imaging.

    abstract::Cryo-electron tomography (cryo-ET) is one of the most advanced technologies for the in situ visualization of molecular machines by producing three-dimensional (3D) biological structures. However, cryo-ET imaging has two serious disadvantages-low dose and low image contrast-which result in high-resolution information b...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-018-20945-6

    authors: Huang X,Li S,Gao S

    更新日期:2018-02-07 00:00:00

  • Non-volatile ferroelastic switching of the Verwey transition and resistivity of epitaxial Fe3O4/PMN-PT (011).

    abstract::A central goal of electronics based on correlated materials or 'Mottronics' is the ability to switch between distinct collective states with a control voltage. Small changes in structure and charge density near a transition can tip the balance between competing phases, leading to dramatic changes in electronic and mag...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep01876

    authors: Liu M,Hoffman J,Wang J,Zhang J,Nelson-Cheeseman B,Bhattacharya A

    更新日期:2013-01-01 00:00:00

  • Decrypting Strong and Weak Single-Walled Carbon Nanotubes Interactions with Mitochondrial Voltage-Dependent Anion Channels Using Molecular Docking and Perturbation Theory.

    abstract::The current molecular docking study provided the Free Energy of Binding (FEB) for the interaction (nanotoxicity) between VDAC mitochondrial channels of three species (VDAC1-Mus musculus, VDAC1-Homo sapiens, VDAC2-Danio rerio) with SWCNT-H, SWCNT-OH, SWCNT-COOH carbon nanotubes. The general results showed that the FEB ...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-017-13691-8

    authors: González-Durruthy M,Werhli AV,Seus V,Machado KS,Pazos A,Munteanu CR,González-Díaz H,Monserrat JM

    更新日期:2017-10-16 00:00:00

  • Two genomes of highly polyphagous lepidopteran pests (Spodoptera frugiperda, Noctuidae) with different host-plant ranges.

    abstract::Emergence of polyphagous herbivorous insects entails significant adaptation to recognize, detoxify and digest a variety of host-plants. Despite of its biological and practical importance - since insects eat 20% of crops - no exhaustive analysis of gene repertoires required for adaptations in generalist insect herbivor...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-017-10461-4

    authors: Gouin A,Bretaudeau A,Nam K,Gimenez S,Aury JM,Duvic B,Hilliou F,Durand N,Montagné N,Darboux I,Kuwar S,Chertemps T,Siaussat D,Bretschneider A,Moné Y,Ahn SJ,Hänniger S,Grenet AG,Neunemann D,Maumus F,Luyten I,Labadi

    更新日期:2017-09-25 00:00:00

  • Universal inherent fluctuations in statistical counting of large particles in slurry used for semiconductor manufacturing.

    abstract::In the chemical mechanical polishing process of semiconductor manufacturing, the concentration of 'large' particles ([Formula: see text]0.5 μm) in the slurry, which is considerably larger in size than the main abrasives ([Formula: see text] 0.1 μm), is a critical parameter that strongly influences manufacturing defect...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-71768-3

    authors: Lee M,Kim D,Heo TY,Park T,Kim W,Choi D,Kim H,Kim J

    更新日期:2020-09-07 00:00:00

  • Young onset type 2 diabetic patients might be more sensitive to metformin compared to late onset type 2 diabetic patients.

    abstract::It is unknown whether YOD (young onset diabetes) and LOD (late onset diabetes) require similar insulin doses for intensive insulin therapy with a metformin add-on to achieve glycemic control. We analyzed data from our two previously performed randomized, controlled open-label trials. Patients were randomized to receiv...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-017-16658-x

    authors: Li FF,Liu BL,Yin GP,Zhang DF,Zhai XF,Chen MY,Su XF,Wu JD,Ye L,Ma JH

    更新日期:2017-11-27 00:00:00

  • Elevated First-Trimester Total Bile Acid is Associated with the Risk of Subsequent Gestational Diabetes.

    abstract::The aim of the current study is to assess whether total bile acid (TBA) level in first trimester pregnancy is associated with gestational diabetes mellitus (GDM). Biochemical parameters including serum TBA of 742 pregnant women were collected within 12 weeks of gestation and compared. At 24-28th weeks of gestation, 75...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep34070

    authors: Hou W,Meng X,Zhao W,Pan J,Tang J,Huang Y,Tao M,Liu F,Jia W

    更新日期:2016-09-26 00:00:00

  • Associations of Plasma FGF2 Levels and Polymorphisms in the FGF2 Gene with Obesity Phenotypes in Han Chinese Population.

    abstract::Obesity is highly heritable, but the specific genes influencing obesity related traits are largely unknown. Fibroblast growth factor 2 (FGF2) could influence adipocyte differentiation. However, the association of FGF2 polymorphisms and obesity remains unclear. This study aimed to investigate the associations of both t...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep19868

    authors: Hao RH,Guo Y,Dong SS,Weng GZ,Yan H,Zhu DL,Chen XF,Chen JB,Yang TL

    更新日期:2016-02-16 00:00:00

  • Micronucleus frequency in buccal mucosa cells of patients with neurodegenerative diseases.

    abstract::Neurodegenerative diseases show an increase in prevalence and incidence, with the most prominent example being Alzheimer's disease. DNA damage has been suggested to play a role in the pathogenesis, but the exact mechanisms remain elusive. We enrolled 425 participants with and without neurodegenerative diseases and ana...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-78832-y

    authors: Reimann H,Stopper H,Polak T,Lauer M,Herrmann MJ,Deckert J,Hintzsche H

    更新日期:2020-12-17 00:00:00

  • Contribution of Atmospheric Diffusion Conditions to the Recent Improvement in Air Quality in China.

    abstract::This study analyzed hourly mass concentration observations of PM2.5 (particulate matters with diameter less than 2.5 μm) at 512 stations in China from December 2013 to May 2015. We found that the mean concentrations of PM2.5 during the winter and spring of 2015 Dec. 2014 to Feb. 2015 and Mar. 2015 to May 2015) decreas...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep36404

    authors: Wang X,Wang K,Su L

    更新日期:2016-11-02 00:00:00

  • NKT cells promote both type 1 and type 2 inflammatory responses in a mouse model of liver fibrosis.

    abstract::Sterile liver inflammation and fibrosis are associated with many liver disorders of different etiologies. Both type 1 and type 2 inflammatory responses have been reported to contribute to liver pathology. However, the mechanisms controlling the balance between these responses are largely unknown. Natural killer T (NKT...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-78688-2

    authors: Nilsson J,Hörnberg M,Schmidt-Christensen A,Linde K,Nilsson M,Carlus M,Erttmann SF,Mayans S,Holmberg D

    更新日期:2020-12-11 00:00:00

  • Efficacy and safety of the fixed combinations of tafluprost/timolol and latanoprost/carteolol.

    abstract::In this study, we made a comparative efficacy and safety assessment of two different fixed combinations of drugs, viz., tafluprost/timolol (TAF/TIM) and latanoprost/carteolol (LAT/CAR), by determining their effects on intraocular pressure (IOP) in ocular normotensive monkeys and examining their toxic effects on ocular...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-019-44028-2

    authors: Fuwa M,Shimazaki A,Mieda M,Yamashita N,Akaishi T,Taniguchi T,Kato M

    更新日期:2019-05-16 00:00:00

  • Transient increase of interleukin-1β after prolonged febrile seizures promotes adult epileptogenesis through long-lasting upregulating endocannabinoid signaling.

    abstract::It remains unclear how infantile febrile seizures (FS) enhance adult seizure susceptibility. Here we showed that the transient increase of interleukin-1β (IL-1β) after prolonged FS promoted adult seizure susceptibility, which was blocked by interleukin-1 receptor antagonist (IL-1Ra) within a critical time window. Post...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep21931

    authors: Feng B,Tang Y,Chen B,Xu C,Wang Y,Dai Y,Wu D,Zhu J,Wang S,Zhou Y,Shi L,Hu W,Zhang X,Chen Z

    更新日期:2016-02-23 00:00:00

  • Improved adherence and treatment outcomes with an engaging, personalized digital therapeutic in amblyopia.

    abstract::Given the prevalence of poor adherence to therapy and the biases of self-reporting across healthcare, we hypothesized that an engaging, personalized therapy may improve adherence and treatment outcomes in the home. We tested this hypothesis in the initial indication of amblyopia, a neurodevelopmental disorder for whic...

    journal_title:Scientific reports

    pub_type: 临床试验,杂志文章

    doi:10.1038/s41598-020-65234-3

    authors: Xiao S,Gaier ED,Mazow ML,Stout AU,Travers DA,Angjeli E,Wu HC,Binenbaum G,Hunter DG

    更新日期:2020-05-20 00:00:00

  • Xiaoyaosan exerts anxiolytic-like effects by down-regulating the TNF-α/JAK2-STAT3 pathway in the rat hippocampus.

    abstract::Although the anxiolytic-like effects of Xiaoyaosan, a Chinese herbal formula, have been described in many previous studies, its underlying mechanism remains undefined. The cytokine tumour necrosis factor-α (TNF-α) and its closely associated janus kinase 2 (JAK2)-signal transducer and activator of transcription (STAT3)...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-017-00496-y

    authors: Li XJ,Ma QY,Jiang YM,Bai XH,Yan ZY,Liu Q,Pan QX,Liu YY,Chen JX

    更新日期:2017-03-23 00:00:00

  • Symmetry-protected metallic and topological phases in penta-materials.

    abstract::We analyze the symmetry and topological features of a family of materials closely related to penta-graphene, derived from it by adsorption or substitution of different atoms. Our description is based on a novel approach, called topological quantum chemistry, that allows to characterize the topology of the electronic b...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-019-49187-w

    authors: Bravo S,Correa J,Chico L,Pacheco M

    更新日期:2019-09-04 00:00:00

  • Ultrathin Air-Stable n-Type Organic Phototransistor Array for Conformal Optoelectronics.

    abstract::Development of conformal n-channel organic phototransistor (OPT) array is urgent for future applications of organic complementary circuits in portable and wearable electronics and optoelectronics. In this work, the ultrathin conformal OPT array based on air-stable n-type PTCDI-C13H27 was fabricated. The OPT array show...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-018-35062-7

    authors: Liu M,Wang H,Tang Q,Zhao X,Tong Y,Liu Y

    更新日期:2018-11-09 00:00:00

  • Hsp90 inhibition as a means to inhibit activation of the NLRP3 inflammasome.

    abstract::Once activated, the intracellular receptor NLRP3 assembles an inflammasome protein complex that facilitates the caspase-1-mediated maturation of IL-1β and IL-18. Inactive NLRP3 is guarded by a protein complex containing Hsp90. In response to stress stimuli, Hsp90 is released, and NLRP3 can be activated to promote infl...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-018-25123-2

    authors: Piippo N,Korhonen E,Hytti M,Skottman H,Kinnunen K,Josifovska N,Petrovski G,Kaarniranta K,Kauppinen A

    更新日期:2018-04-30 00:00:00

  • Fluorescent Biocompatible Platinum-Porphyrin-Doped Polymeric Hybrid Particles for Oxygen and Glucose Biosensing.

    abstract::Near infrared (NIR) fluorophores like Pt-porphyrin along with analyte specific enzymes require co-encapsulation in biocompatible and biodegradable carriers in order to be transformed into implantable biosensors for efficient and continuous monitoring of analytes in patients. The main objective of this research is to d...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-019-41326-7

    authors: Pandey G,Chaudhari R,Joshi B,Choudhary S,Kaur J,Joshi A

    更新日期:2019-03-22 00:00:00