当前位置： SCI文献检索 > Scientific Reports期刊下所有文献 > Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects.

Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects.

Abstract：

:Non-syndromic cleft lip and/or palate (NSCLP) is a common congenital malformation with a multifactorial model of inheritance. Although several at-risk alleles have been identified, they do not completely explain the high heritability. We postulate that epigenetic factors as DNA methylation might contribute to this missing heritability. Using a Methylome-wide association study in a Brazilian cohort (67 NSCLP, 59 controls), we found 578 methylation variable positions (MVPs) that were significantly associated with NSCLP. MVPs were enriched in regulatory and active regions of the genome and in pathways already implicated in craniofacial development. In an independent UK cohort (171 NSCLP, 177 controls), we replicated 4 out of 11 tested MVPs. We demonstrated a significant positive correlation between blood and lip tissue DNA methylation, indicating blood as a suitable tissue for NSCLP methylation studies. Next, we quantified CDH1 promoter methylation levels in CDH1 mutation-positive families, including penetrants, non-penetrants or non-carriers for NSCLP. We found methylation levels to be significantly higher in the penetrant individuals. Taken together, our results demonstrated the association of methylation at specific genomic locations as contributing factors to both non-familial and familial NSCLP and altered DNA methylation may be a second hit contributing to penetrance.

journal_name

Sci Rep

journal_title

Scientific reports

authors

Alvizi L,Ke X,Brito LA,Seselgyte R,Moore GE,Stanier P,Passos-Bueno MR

doi

10.1038/s41598-017-02721-0

subject

Has Abstract

pub_date

2017-05-26 00:00:00

pages

2441

issue

1

issn

2045-2322

pii

10.1038/s41598-017-02721-0

journal_volume

7

pub_type

杂志文章

相关文献

Scientific Reports文献大全
  • Improved collateral flow and reduced damage after remote ischemic perconditioning during distal middle cerebral artery occlusion in aged rats.

    abstract：:Circulation through cerebral collaterals can maintain tissue viability until reperfusion is achieved. However, collateral circulation is time limited, and failure of collaterals is accelerated in the aged. Remote ischemic perconditioning (RIPerC), which involves inducing a series of repetitive, transient peripheral cy...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-020-69122-8

    authors： Ma J,Ma Y,Shuaib A,Winship IR

    更新日期：2020-07-24 00:00:00

  • Downregulation of HLA-ABC expression through promoter hypermethylation and downmodulation of MIC-A/B surface expression in LMP2A-positive epithelial carcinoma cell lines.

    abstract：:Epstein Barr Virus (EBV) is a human herpesvirus, and has been reported to be associated with nasopharyngeal carcinoma, gastric carcinoma, Burkitt's lymphoma and Hodgkin's lymphoma. In most of the associated tumors, the virus remains in a latently infected state. During latency, EBV expresses Latent Membrane Protein 2A...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-020-62081-0

    authors： Singh S,Banerjee S

    更新日期：2020-03-25 00:00:00

  • Acoustic indices provide information on the status of coral reefs: an example from Moorea Island in the South Pacific.

    abstract：:Different marine habitats are characterised by different soundscapes. How or which differences may be representative of the habitat characteristics and/or community structure remains however to be explored. A growing project in passive acoustics is to find a way to use soundscapes to have information on the habitat an...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep33326

    authors： Bertucci F,Parmentier E,Lecellier G,Hawkins AD,Lecchini D

    更新日期：2016-09-15 00:00:00

  • Melatonin enhances the developmental competence of porcine somatic cell nuclear transfer embryos by preventing DNA damage induced by oxidative stress.

    abstract：:Melatonin has antioxidant and scavenger effects in the cellular antioxidant system. This research investigated the protective effects and underlying mechanisms of melatonin action in porcine somatic cell nuclear transfer (SCNT) embryos. The results suggested that the developmental competence of porcine SCNT embryos wa...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-017-11161-9

    authors： Liang S,Jin YX,Yuan B,Zhang JB,Kim NH

    更新日期：2017-09-11 00:00:00

  • Compact flexible multi-pass rotary delay line using spinning micro-machined mirrors.

    abstract：:We propose a new method to extend the path length tunability of rotary delay-lines. This method was shown to achieve a duty cycle of >80% and repetition rates of over 40 kHz. The new method relies on a new multi-segmented micro-machined mirror and serial injection of a single reflection onto separate segments of this ...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-017-09576-5

    authors： Fleddermann R,Lee WM,Huang K,Campbell GT,Lam PK,Chow JH

    更新日期：2017-08-24 00:00:00

  • Impact of benzodiazepine consumption reduction on future burden of dementia.

    abstract：:Dementia is a major public health issue worldwide and chronic use of benzodiazepine, which is very frequent in northern countries, was found to be a risk factor of dementia. This work aims at evaluating the impact of a reduction in chronic use of benzodiazepine on the future burden of dementia in France. Using estimat...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-020-71482-0

    authors： Jacqmin-Gadda H,Guillet F,Mathieu C,Helmer C,Pariente A,Joly P

    更新日期：2020-09-04 00:00:00

  • Low-dimensional gap plasmons for enhanced light-graphene interactions.

    abstract：:Graphene plasmonics has become a highlighted research area due to the outstanding properties of deep-subwavelength plasmon excitation, long relaxation time, and electro-optical tunability. Although the giant conductivity of a graphene layer enables the low-dimensional confinement of light, the atomic scale of the laye...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep43333

    authors： Kim Y,Yu S,Park N

    更新日期：2017-02-27 00:00:00

  • Palladium/palladium oxide coated electrospun fibers for wearable sweat pH-sensors.

    abstract：:The work describes the development of a flexible, hydrogel embedded pH-sensor that can be integrated in inexpensive wearable and non-invasive devices at epidermal level for electrochemical quantification of H+ ions in sweat. Such a device can be useful for swift, real time diagnosis and for monitoring specific conditi...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-019-45399-2

    authors： Diculescu VC,Beregoi M,Evanghelidis A,Negrea RF,Apostol NG,Enculescu I

    更新日期：2019-06-20 00:00:00

  • 2, 3-Dimethylmaleic anhydride (3, 4-Dimethyl-2, 5-furandione): A plant derived insecticidal molecule from Colocasia esculenta var. esculenta (L.) Schott.

    abstract：:The phasing out of methyl bromide as a fumigant, resistance problems with phosphine and other fumigants in stored product beetles, and serious concern with human health and environmental safety have triggered the search for alternative biofumigants of plant origin. Despite the identification of a large number of plant...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep20546

    authors： Rajashekar Y,Tonsing N,Shantibala T,Manjunath JR

    更新日期：2016-02-03 00:00:00

  • Pharmaceutical compounding of aflibercept in prefilled syringes does not affect structural integrity, stability or VEGF and Fc binding properties.

    abstract：:Macular edema due to neovascular age-related macular degeneration, diabetes or retinal vein occlusion can cause central vision loss. Intravitreal treatment with antibody-based biopharmaceutical compounds designed to neutralize vascular endothelial growth factor (VEGF) has proven to be an efficient strategy to ameliora...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-018-20525-8

    authors： Sivertsen MS,Jørstad ØK,Grevys A,Foss S,Moe MC,Andersen JT

    更新日期：2018-02-01 00:00:00

  • Dynamics of water bound to crystalline cellulose.

    abstract：:Interactions of water with cellulose are of both fundamental and technological importance. Here, we characterize the properties of water associated with cellulose using deuterium labeling, neutron scattering and molecular dynamics simulation. Quasi-elastic neutron scattering provided quantitative details about the dyn...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-017-12035-w

    authors： O'Neill H,Pingali SV,Petridis L,He J,Mamontov E,Hong L,Urban V,Evans B,Langan P,Smith JC,Davison BH

    更新日期：2017-09-19 00:00:00

  • Manipulation of cell migration by laserporation-induced local wounding.

    abstract：:Living organisms employ various mechanisms to escape harm. At the cellular level, mobile cells employ movement to avoid harmful chemicals or repellents. The present study is the first to report that cells move away from the site of injury in response to local wounding. When a migrating Dictyostelium cell was locally w...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-019-39678-1

    authors： Pervin MS,Yumura S

    更新日期：2019-03-12 00:00:00

  • Mucosal-associated invariant T (MAIT) cells provide B-cell help in vaccinated and subsequently SIV-infected Rhesus Macaques.

    abstract：:Mucosal-associated invariant T (MAIT) cells help combat opportunistic infections. Thus, MAIT cells are of interest in HIV/SIV vaccination and infection. We investigated MAIT cell dynamics and function in rhesus macaque blood and bronchoalveolar lavage (BAL) following mucosal adenovirus (Ad)-SIV recombinant priming, in...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-020-66964-0

    authors： Rahman MA,Ko EJ,Bhuyan F,Enyindah-Asonye G,Hunegnaw R,Helmold Hait S,Hogge CJ,Venzon DJ,Hoang T,Robert-Guroff M

    更新日期：2020-06-22 00:00:00

  • An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.

    abstract：:Meckel syndrome (MKS) is an inherited autosomal recessive hepatorenal fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, renal cysts, hepatic fibrosis, and polydactyly. Here we describe an ovine model of MKS, with kidney and liver abnormalities, without polydactyly or occip...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-017-01519-4

    authors： Stayner C,Poole CA,McGlashan SR,Pilanthananond M,Brauning R,Markie D,Lett B,Slobbe L,Chae A,Johnstone AC,Jensen CG,McEwan JC,Dittmer K,Parker K,Wiles A,Blackburne W,Leichter A,Leask M,Pinnapureddy A,Jennings M,Hor

    更新日期：2017-05-09 00:00:00

  • The RBM14/CoAA-interacting, long intergenic non-coding RNA Paral1 regulates adipogenesis and coactivates the nuclear receptor PPARγ.

    abstract：:Adipocyte differentiation and function relies on a network of transcription factors, which is disrupted in obesity-associated low grade, chronic inflammation leading to adipose tissue dysfunction. In this context, there is a need for a thorough understanding of the transcriptional regulatory network involved in adipos...

    journal_title：Scientific reports

    pub_type： 临床试验,杂志文章

    doi：10.1038/s41598-017-14570-y

    authors： Firmin FF,Oger F,Gheeraert C,Dubois-Chevalier J,Vercoutter-Edouart AS,Alzaid F,Mazuy C,Dehondt H,Alexandre J,Derudas B,Dhalluin Q,Ploton M,Berthier A,Woitrain E,Lefebvre T,Venteclef N,Pattou F,Staels B,Eeckhoute J,L

    更新日期：2017-10-26 00:00:00

  • A repeatedly refuelable mediated biofuel cell based on a hierarchical porous carbon electrode.

    abstract：:Biofuel cells that generate electricity from renewable fuels, such as carbohydrates, must be reusable through repeated refuelling, should these devices be used in consumer electronics. We demonstrate the stable generation of electricity from a glucose-powered mediated biofuel cell through multiple refuelling cycles. T...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep04937

    authors： Fujita S,Yamanoi S,Murata K,Mita H,Samukawa T,Nakagawa T,Sakai H,Tokita Y

    更新日期：2014-05-13 00:00:00

  • Sporulation-specific cell division defects in ylmE mutants of Streptomyces coelicolor are rescued by additional deletion of ylmD.

    abstract：:Cell division during the reproductive phase of the Streptomyces life-cycle requires tight coordination between synchronous formation of multiple septa and DNA segregation. One remarkable difference with most other bacterial systems is that cell division in Streptomyces is positively controlled by the recruitment of Ft...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-018-25782-1

    authors： Zhang L,Willemse J,Hoskisson PA,van Wezel GP

    更新日期：2018-05-09 00:00:00

  • Sub-wavelength annular-slit-assisted superoscillatory lens for longitudinally-polarized super-resolution focusing.

    abstract：:A binary metallic superoscillatory lens assisted with annular subwavelength slits is proposed, which generates a longitudinally-polarized super-resolution focal point. The annular slits are designed to selectively transmit radially-polarized light. Simulations using the finite element method show a 0.24 λ focal spot w...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-019-56810-3

    authors： Kim H,Rogers ETF

    更新日期：2020-01-28 00:00:00

  • Figure-ground perception in the awake mouse and neuronal activity elicited by figure-ground stimuli in primary visual cortex.

    abstract：:Figure-ground segregation is the process by which the visual system identifies image elements of figures and segregates them from the background. Previous studies examined figure-ground segregation in the visual cortex of monkeys where figures elicit stronger neuronal responses than backgrounds. It was demonstrated in...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-018-36087-8

    authors： Schnabel UH,Bossens C,Lorteije JAM,Self MW,Op de Beeck H,Roelfsema PR

    更新日期：2018-12-12 00:00:00

  • Strong odd-frequency correlations in fully gapped Zeeman-split superconductors.

    abstract：:It is now well established that at a superconductor/ferromagnet (S/F) interface an unconventional superconducting state arises in which the pairing is odd-frequency. The hallmark signature of this superconducting state is generally understood to be an enhancement of the electronic density of states (DoS) at subgap ene...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep15483

    authors： Linder J,Robinson JW

    更新日期：2015-10-27 00:00:00

  • Neuronal imaging with ultrahigh dynamic range multiphoton microscopy.

    abstract：:Multiphoton microscopes are hampered by limited dynamic range, preventing weak sample features from being detected in the presence of strong features, or preventing the capture of unpredictable bursts in sample strength. We present a digital electronic add-on technique that vastly improves the dynamic range of a multi...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-017-06065-7

    authors： Yang R,Weber TD,Witkowski ED,Davison IG,Mertz J

    更新日期：2017-07-19 00:00:00

  • The potential of Gantry beamline large momentum acceptance for real time tumour tracking in pencil beam scanning proton therapy.

    abstract：:Tumour tracking is an advanced radiotherapy technique for precise treatment of tumours subject to organ motion. In this work, we addressed crucial aspects of dose delivery for its realisation in pencil beam scanning proton therapy, exploring the momentum acceptance and global achromaticity of a Gantry beamline to perf...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-020-71821-1

    authors： Fattori G,Zhang Y,Meer D,Weber DC,Lomax AJ,Safai S

    更新日期：2020-09-18 00:00:00

  • Comparison of Alterations in miRNA Expression in Matched Tissue and Blood Samples during Spinal Cord Glioma Progression.

    abstract：:Abnormal expression of microRNAs (miRNAs) contributes to glioma initiation. However, the expression of miRNAs in tumour tissue or blood of spinal cord glioma (SCG) patients, particularly in high-grade spinal gliomas (Grade IV) known as glioblastoma (GBM), remains largely unknown. In this study we aimed to determine di...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-019-42364-x

    authors： An T,Fan T,Zhang XQ,Liu YF,Huang J,Liang C,Lv BH,Wang YQ,Zhao XG,Liu JX,Fu YH,Jiang GJ

    更新日期：2019-06-24 00:00:00

  • Comparison of efficacy and safety of conventional laparoscopic radical prostatectomy by the transperitoneal versus extraperitoneal procedure.

    abstract：:Worldwide, prostate cancer (PCa) is the second most common malignancy in males. We undertook a meta-analysis to compare the efficacy and safety of conventional laparoscopic radical prostatectomy with a transperitoneal (TLRP) approach, versus that of an extraperitoneal (ELRP) approach, for treatment of localized PCa. A...

    journal_title：Scientific reports

    pub_type： 杂志文章,meta分析

    doi：10.1038/srep14442

    authors： De Hong C,Liang Ren L,Qiang W,Jia W,Ying Chun H,Lu Y,Zheng Hua L,Heng Ping L,Shi Bing Y,Yun Xiang L

    更新日期：2015-10-13 00:00:00

  • Immunization with a 22-kDa outer membrane protein elicits protective immunity to multidrug-resistant Acinetobacter baumannii.

    abstract：:A. baumannii infections are becoming more and more serious health issues with rapid emerging of multidrug and extremely drug resistant strains, and therefore, there is an urgent need for the development of nonantibiotic-based intervention strategies. This study aimed at identifying whether an outer membrane protein wi...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep20724

    authors： Huang W,Yao Y,Wang S,Xia Y,Yang X,Long Q,Sun W,Liu C,Li Y,Chu X,Bai H,Yao Y,Ma Y

    更新日期：2016-02-08 00:00:00

  • Analgesia after major laparoscopic surgery in patients with chronic kidney disease: A retrospective cohort study.

    abstract：:The amount of reduction in opioid doses and its effect on postoperative pain outcomes in chronic kidney disease (CKD) patients in the perioperative setting remains unclear. This study aimed to investigate differences in postoperative pain outcomes after major laparoscopic surgery between patients with CKD and those wi...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-019-40627-1

    authors： Choi HR,Oh TK,Kim J,Jeon YT

    更新日期：2019-03-08 00:00:00

  • Elimination of HIV-1 Genomes from Human T-lymphoid Cells by CRISPR/Cas9 Gene Editing.

    abstract：:We employed an RNA-guided CRISPR/Cas9 DNA editing system to precisely remove the entire HIV-1 genome spanning between 5' and 3' LTRs of integrated HIV-1 proviral DNA copies from latently infected human CD4+ T-cells. Comprehensive assessment of whole-genome sequencing of HIV-1 eradicated cells ruled out any off-target ...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep22555

    authors： Kaminski R,Chen Y,Fischer T,Tedaldi E,Napoli A,Zhang Y,Karn J,Hu W,Khalili K

    更新日期：2016-03-04 00:00:00

  • The Role of PIK3CA Mutations among Lung Adenocarcinoma Patients with Primary and Acquired Resistance to EGFR Tyrosine Kinase Inhibition.

    abstract：:To understand the impact of PIK3CA mutations on clinical characteristics and treatment response to epidermal growth factor tyrosine kinase inhibitors (EGFR TKIs) of lung adenocarcinoma, we examined PIK3CA and EGFR mutations in lung adenocarcinoma patients, and analyzed their clinical outcomes. Surgically excised tumor...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep35249

    authors： Wu SG,Chang YL,Yu CJ,Yang PC,Shih JY

    更新日期：2016-10-13 00:00:00

  • Immature particles and capsid-free viral RNA produced by Yellow fever virus-infected cells stimulate plasmacytoid dendritic cells to secrete interferons.

    abstract：:Plasmacytoid dendritic cells (pDCs) are specialized in the production of interferons (IFNs) in response to viral infections. The Flaviviridae family comprises enveloped RNA viruses such as Hepatitis C virus (HCV) and Dengue virus (DENV). Cell-free flaviviridae virions poorly stimulate pDCs to produce IFN. By contrast,...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-018-29235-7

    authors： Sinigaglia L,Gracias S,Décembre E,Fritz M,Bruni D,Smith N,Herbeuval JP,Martin A,Dreux M,Tangy F,Jouvenet N

    更新日期：2018-07-18 00:00:00

  • Continuous de novo biosynthesis of haem and its rapid turnover to bilirubin are necessary for cytoprotection against cell damage.

    abstract：:It is well known that haem serves as the prosthetic group of various haemoproteins that function in oxygen transport, respiratory chain, and drug metabolism. However, much less is known about the functions of the catabolites of haem in mammalian cells. Haem is enzymatically degraded to iron, carbon monoxide (CO), and ...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep10488

    authors： Takeda TA,Mu A,Tai TT,Kitajima S,Taketani S

    更新日期：2015-05-20 00:00:00