当前位置： SCI文献检索 > Scientific Reports期刊下所有文献 > Genetic analysis of the TMEM230 gene in Chinese Han patients with Parkinson's disease.

Genetic analysis of the TMEM230 gene in Chinese Han patients with Parkinson's disease.

Abstract：

:TMEM230 mutations have been recently reported to cause autosomal dominant Parkinson's disease (PD). However, there are limited studies from different ethnic populations to support the role of TMEM230 in sporadic PD. In this study, we performed a comprehensive TMEM230 mutation screening in 550 sporadic PD patients and 560 controls to elaborate the genetic contribution of TMEM230 to sporadic PD. Overall, we did not find any pathogenic mutations in the coding sequence, while we identified four variants (c.68 + 182G > A, c.78A > G, c.552 + 11A > G and c.174 + 11C > T) both in the patients and controls, and c.68 + 182G > A appeared to be associated with an increased risk of PD (odds ratio 1.782, 95% confidence interval 1.035-3.067, p < 0.05). After Bonferroni correction, however, c. 68 + 182G > A had no significant association with sporadic PD (p c = 0.136, p c > 0.05). Thus our results suggest that TMEM230 gene mutations may be rare in Chinese populations, and the variability of TMEM230 gene may not be a main factor for sporadic PD patients in Chinese Han populations. More evidence is still needed to clarify this question.

journal_name

Sci Rep

journal_title

Scientific reports

authors

Shi CH,Li F,Shi MM,Yang ZH,Mao CY,Zhang SY,Wang H,Cheng Y,Yang J,Wu J,Xu YM

doi

10.1038/s41598-017-01398-9

subject

Has Abstract

pub_date

2017-04-26 00:00:00

pages

1190

issue

1

issn

2045-2322

pii

10.1038/s41598-017-01398-9

journal_volume

7

pub_type

杂志文章

相关文献

Scientific Reports文献大全
  • Alteration in Fluidity of Cell Plasma Membrane in Huntington Disease Revealed by Spectral Phasor Analysis.

    abstract：:Huntington disease (HD) is a late-onset genetic neurodegenerative disorder caused by expansion of cytosine-adenine-guanine (CAG) trinucleotide in the exon 1 of the gene encoding the polyglutamine (polyQ). It has been shown that protein degradation and lipid metabolism is altered in HD. In many neurodegenerative disord...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-018-19160-0

    authors： Sameni S,Malacrida L,Tan Z,Digman MA

    更新日期：2018-01-15 00:00:00

  • 20S immunoproteasomes remove formaldehyde-damaged cytoplasmic proteins suppressing caspase-independent cell death.

    abstract：:Immunoproteasomes are known for their involvement in antigen presentation. However, their broad tissue presence and other evidence are indicative of nonimmune functions. We examined a role for immunoproteasomes in cellular responses to the endogenous and environmental carcinogen formaldehyde (FA) that binds to cytosol...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-017-00757-w

    authors： Ortega-Atienza S,Krawic C,Watts L,McCarthy C,Luczak MW,Zhitkovich A

    更新日期：2017-04-05 00:00:00

  • Associations between Coffee Products and Breast Cancer Risk: a Case-Control study in Hong Kong Chinese Women.

    abstract：:Coffee contains caffeine and diterpenes that were associated with decreased breast cancer risk, but results remained inconsistent. The study purpose was to investigate the associations between coffee products and breast cancer risk among Hong Kong Chinese women. We conducted a hospital-based case-control study in thre...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-019-49205-x

    authors： Lee PMY,Chan WC,Kwok CC,Wu C,Law SH,Tsang KH,Yu WC,Yeung YC,Chang LDJ,Wong CKM,Wang F,Tse LA

    更新日期：2019-09-03 00:00:00

  • MycoCAP - Mycobacterium Comparative Analysis Platform.

    abstract：:Mycobacterium spp. are renowned for being the causative agent of diseases like leprosy, Buruli ulcer and tuberculosis in human beings. With more and more mycobacterial genomes being sequenced, any knowledge generated from comparative genomic analysis would provide better insights into the biology, evolution, phylogeny...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep18227

    authors： Choo SW,Ang MY,Dutta A,Tan SY,Siow CC,Heydari H,Mutha NV,Wee WY,Wong GJ

    更新日期：2015-12-15 00:00:00

  • Toward a nanopaper-based and solid phase immunoassay using FRET for the rapid detection of bacteria.

    abstract：:In this study, we propose a novel sensitive solid-based immunosensor developed on a plasmonic nanopaper platform for the detection of Escherichia coli (E. coli) bacteria. This plasmonic nanopaper that comprises of carboxylated bacterial cellulose (CBC) impregnated with gold nanoparticles (AuNP-CBC), employed as a quen...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-020-71285-3

    authors： Heli B,Ajji A

    更新日期：2020-09-01 00:00:00

  • Structural features distinguishing infectious ex vivo mammalian prions from non-infectious fibrillar assemblies generated in vitro.

    abstract：:Seeded polymerisation of proteins forming amyloid fibres and their spread in tissues has been implicated in the pathogenesis of multiple neurodegenerative diseases: so called "prion-like" mechanisms. While ex vivo mammalian prions, composed of multichain assemblies of misfolded host-encoded prion protein (PrP), act as...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-018-36700-w

    authors： Terry C,Harniman RL,Sells J,Wenborn A,Joiner S,Saibil HR,Miles MJ,Collinge J,Wadsworth JDF

    更新日期：2019-01-23 00:00:00

  • Tuneable Magnetic Phase Transitions in Layered CeMn2Ge(2-x)Six Compounds.

    abstract：:The structural and magnetic properties of seven CeMn2Ge(2-x)Six compounds with x = 0.0-2.0 have been investigated in detail. Substitution of Ge with Si leads to a monotonic decrease of both a and c along with concomitant contraction of the unit cell volume and significant modifications of the magnetic states - a cross...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep11288

    authors： Md Din MF,Wang JL,Cheng ZX,Dou SX,Kennedy SJ,Avdeev M,Campbell SJ

    更新日期：2015-06-19 00:00:00

  • Optical Twist Induced by Plasmonic Resonance.

    abstract：:Harvesting light for optical torque is of significant importance, owing to its ability to rotate nano- or micro-objects. Nevertheless, applying a strong optical torque remains a challenging task: angular momentum must conserve but light is limited. A simple argument shows the tendency for two objects with strong mutua...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep27927

    authors： Chen J,Wang N,Cui L,Li X,Lin Z,Ng J

    更新日期：2016-06-13 00:00:00

  • Baseline IFN-γ and IL-10 expression in PBMCs could predict response to PD-1 checkpoint inhibitors in advanced melanoma patients.

    abstract：:Anti-PD-1 antibodies revolutionized the treatment of advanced melanoma patients. However, one out of three do not respond to this therapy, with an overall poor prognosis. Identification of predictive biomarkers in patients receiving immune-based therapies is necessary for minimizing risk of toxicity and optimizing pat...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-020-72711-2

    authors： Giunta EF,Barra G,De Falco V,Argenziano G,Napolitano S,Vitale P,Zanaletti N,Terminiello M,Martinelli E,Morgillo F,Ciardiello D,De Palma R,Ciardiello F,Troiani T

    更新日期：2020-10-19 00:00:00

  • Persistent current in 2D topological superconductors.

    abstract：:A junction between two boundaries of a topological superconductor (TSC), mediated by localized edge modes of Majorana fermions, is investigated. The tunneling of fermions across the junction depends on the magnetic flux. It breaks the time-reversal symmetry at the boundary of the sample. The persistent current is dete...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-017-07492-2

    authors： Karnaukhov IN

    更新日期：2017-08-02 00:00:00

  • Heparin Forms Polymers with Cell-free DNA Which Elongate Under Shear in Flowing Blood.

    abstract：:Heparin is a widely used anticoagulant which inhibits factor Xa and thrombin through potentiation of antithrombin. We recently identified that the nucleic acid stain SYTOX reacts with platelet polyphosphate due to molecular similarities, some of which are shared by heparin. We attempted to study heparin in flowing blo...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-019-54818-3

    authors： de Vries JC,Barendrecht AD,Clark CC,Urbanus RT,Boross P,de Maat S,Maas C

    更新日期：2019-12-04 00:00:00

  • An integrative atlas of chicken long non-coding genes and their annotations across 25 tissues.

    abstract：:Long non-coding RNAs (LNC) regulate numerous biological processes. In contrast to human, the identification of LNC in farm species, like chicken, is still lacunar. We propose a catalogue of 52,075 chicken genes enriched in LNC ( http://www.fragencode.org/ ), built from the Ensembl reference extended using novel LNC mo...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-020-77586-x

    authors： Jehl F,Muret K,Bernard M,Boutin M,Lagoutte L,Désert C,Dehais P,Esquerré D,Acloque H,Giuffra E,Djebali S,Foissac S,Derrien T,Pitel F,Zerjal T,Klopp C,Lagarrigue S

    更新日期：2020-11-24 00:00:00

  • Neuron-derived FGF10 ameliorates cerebral ischemia injury via inhibiting NF-κB-dependent neuroinflammation and activating PI3K/Akt survival signaling pathway in mice.

    abstract：:FGF10 is a member of fibroblast growth factors (FGFs). We previously showed that FGF10 protects neuron against oxygen-glucose deprivation injury in vitro; however, the effect of FGF10 in ischemic stroke in vivo is unknown. In the present study, we showed that FGF10 was mainly expressed in neurons but not astrocytes, a...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep19869

    authors： Li YH,Fu HL,Tian ML,Wang YQ,Chen W,Cai LL,Zhou XH,Yuan HB

    更新日期：2016-01-27 00:00:00

  • Interactions among Drosophila larvae before and during collision.

    abstract：:In populations of Drosophila larvae, both, an aggregation and a dispersal behavior can be observed. However, the mechanisms coordinating larval locomotion in respect to other animals, especially in close proximity and during/after physical contacts are currently only little understood. Here we test whether relevant in...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep31564

    authors： Otto N,Risse B,Berh D,Bittern J,Jiang X,Klämbt C

    更新日期：2016-08-11 00:00:00

  • Ultrasensitive detection of saccharides using terahertz sensor based on metallic nano-slits.

    abstract：:Unambiguous identification of trace amounts of biochemical molecules in a complex background using terahertz spectroscopy is extremely challenging owing to the extremely small absorption cross sections of these molecules in the terahertz regime. Herein, we numerically propose a terahertz nonresonant nano-slits structu...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-020-60732-w

    authors： Qin J,Cheng W,Han B,Du Y,Han Z,Zhao Z

    更新日期：2020-02-28 00:00:00

  • Quinary wurtzite Zn-Ga-Ge-N-O solid solutions and their photocatalytic properties under visible light irradiation.

    abstract：:Wurtzite solid solutions between GaN and ZnO highlight an intriguing paradigm for water splitting into hydrogen and oxygen using solar energy. However, large composition discrepancy often occurs inside the compound owing to the volatile nature of Zn, thereby prescribing rigorous terms on synthetic conditions. Here we ...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep19060

    authors： Xie Y,Wu F,Sun X,Chen H,Lv M,Ni S,Liu G,Xu X

    更新日期：2016-01-12 00:00:00

  • Unsupervised Hebbian learning experimentally realized with analogue memristive crossbar arrays.

    abstract：:Conventional transistor electronics are reaching their limits in terms of scalability, power dissipation, and the underlying Boolean system architecture. To overcome this obstacle neuromorphic analogue systems are recently highly investigated. Particularly, the use of memristive devices in VLSI analogue concepts provi...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-018-27033-9

    authors： Hansen M,Zahari F,Kohlstedt H,Ziegler M

    更新日期：2018-06-11 00:00:00

  • Non-thermal plasma treatment improves chicken sperm motility via the regulation of demethylation levels.

    abstract：:The quality of avian semen is an important economic trait in poultry production. The present study examines the in vitro effects of non-thermal dielectric barrier discharge plasma on chicken sperm to determine the plasma conditions that can produce the optimum sperm quality. Exposure to 11.7 kV of plasma for 20 s is f...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-018-26049-5

    authors： Zhang JJ,Do HL,Chandimali N,Lee SB,Mok YS,Kim N,Kim SB,Kwon T,Jeong DK

    更新日期：2018-05-15 00:00:00

  • Arabidopsis thaliana extracts optimized for polyphenols production as potential therapeutics for the APOE-modulated neuroinflammation characteristic of Alzheimer's disease in vitro.

    abstract：:Although the cause of Alzheimer's disease (AD) is unknown, glial-induced neuroinflammation is an early symptom. Familial AD is caused by increases in amyloid-beta (Aβ) peptide, particularly soluble oligomeric (oAβ), considered a proximal neurotoxin and neuroinflammatory stimuli. APOE4, a naturally occurring genotype o...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep29364

    authors： Ghura S,Tai L,Zhao M,Collins N,Che CT,Warpeha KM,LaDu MJ

    更新日期：2016-07-07 00:00:00

  • Perfluorooctanoic acid in indoor particulate matter triggers oxidative stress and inflammation in corneal and retinal cells.

    abstract：:To investigate the particle size distribution of particulate matter and the concentration of specific perfluorinated compounds in indoor dust samples from several locations. Then, we used cell-based assays to investigate the effect of perfluorinated compounds on human corneal epithelial (HCEpiC), endothelial cells (HC...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-020-72600-8

    authors： Tien PT,Lin HJ,Tsai YY,Lim YP,Chen CS,Chang CY,Lin CJ,Chen JJ,Wu SM,Huang YJ,Wan L

    更新日期：2020-09-24 00:00:00

  • The impact of acute stress on hormones and cytokines, and how their recovery is affected by music-evoked positive mood.

    abstract：:Stress and recovery from stress significantly affect interactions between the central nervous system, endocrine pathways, and the immune system. However, the influence of acute stress on circulating immune-endocrine mediators in humans is not well known. Using a double-blind, randomized study design, we administered a...

    journal_title：Scientific reports

    pub_type： 杂志文章,随机对照试验

    doi：10.1038/srep23008

    authors： Koelsch S,Boehlig A,Hohenadel M,Nitsche I,Bauer K,Sack U

    更新日期：2016-03-29 00:00:00

  • microRNA-352 regulates collateral vessel growth induced by elevated fluid shear stress in the rat hind limb.

    abstract：:Although collateral vessel growth is distinctly enhanced by elevated fluid shear stress (FSS), the underlying regulatory mechanism of this process remains incompletely understood. Recent studies have shown that microRNAs (miRNAs) play a pivotal role in vascular development, homeostasis and a variety of diseases. There...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-017-06910-9

    authors： Guan Y,Cai B,Wu X,Peng S,Gan L,Huang D,Liu G,Dong L,Xiao L,Liu J,Zhang B,Cai WJ,Schaper J,Schaper W

    更新日期：2017-07-27 00:00:00

  • Winner-loser effects overrule aggressiveness during the early stages of contests between pigs.

    abstract：:Contest behaviour, and in particular the propensity to attack an unfamiliar conspecific, is influenced by an individual's aggressiveness, as well as by experience of winning and losing (so called 'winner-loser effects'). Individuals vary in aggressiveness and susceptibility to winner-loser effects but the relationship...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-020-69664-x

    authors： Oldham L,Camerlink I,Arnott G,Doeschl-Wilson A,Farish M,Turner SP

    更新日期：2020-08-07 00:00:00

  • Fasting activates macroautophagy in neurons of Alzheimer's disease mouse model but is insufficient to degrade amyloid-beta.

    abstract：:We developed a new technique to observe macroautophagy in the brain in vivo, and examined whether fasting induced macroautophagy in neurons and how the induction was different between Alzheimer's disease (AD) model and control mice. Lentivirus for EGFP-LC3 injected into the brain successfully visualized autophagosome ...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep12115

    authors： Chen X,Kondo K,Motoki K,Homma H,Okazawa H

    更新日期：2015-07-14 00:00:00

  • Berberine improved experimental chronic colitis by regulating interferon-γ- and IL-17A-producing lamina propria CD4+ T cells through AMPK activation.

    abstract：:The herbal medicine berberine (BBR) has been recently shown to be an AMP-activated protein kinase (AMPK) productive activator with various properties that induce anti-inflammatory responses. We investigated the effects of BBR on the mechanisms of mucosal CD4+T cell activation in vitro and on the inflammatory responses...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-019-48331-w

    authors： Takahara M,Takaki A,Hiraoka S,Adachi T,Shimomura Y,Matsushita H,Nguyen TTT,Koike K,Ikeda A,Takashima S,Yamasaki Y,Inokuchi T,Kinugasa H,Sugihara Y,Harada K,Eikawa S,Morita H,Udono H,Okada H

    更新日期：2019-08-15 00:00:00

  • Hyperspectral imaging using the single-pixel Fourier transform technique.

    abstract：:Hyperspectral imaging technology is playing an increasingly important role in the fields of food analysis, medicine and biotechnology. To improve the speed of operation and increase the light throughput in a compact equipment structure, a Fourier transform hyperspectral imaging system based on a single-pixel technique...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep45209

    authors： Jin S,Hui W,Wang Y,Huang K,Shi Q,Ying C,Liu D,Ye Q,Zhou W,Tian J

    更新日期：2017-03-24 00:00:00

  • USP45 and Spindly are part of the same complex implicated in cell migration.

    abstract：:Ubiquitylation is a protein modification implicated in several cellular processes. This process is reversible by the action of deubiquinating enzymes (DUBs). USP45 is a ubiquitin specific protease about which little is known, aside from roles in DNA damage repair and differentiation of the vertebrate retina. Here, by ...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-018-32685-8

    authors： Conte C,Griffis ER,Hickson I,Perez-Oliva AB

    更新日期：2018-09-26 00:00:00

  • DNA barcode for the identification of the sand fly Lutzomyia longipalpis plant feeding preferences in a tropical urban environment.

    abstract：:Little is known about the feeding behavior of hematophagous insects that require plant sugar to complete their life cycles. We studied plant feeding of Lutzomyia longipalpis sand flies, known vectors of Leishmania infantum/chagasi parasites, in a Brazilian city endemic with visceral leishmaniasis. The DNA barcode tech...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep29742

    authors： Lima LHGM,Mesquita MR,Skrip L,de Souza Freitas MT,Silva VC,Kirstein OD,Abassi I,Warburg A,Balbino VQ,Costa CHN

    更新日期：2016-07-20 00:00:00

  • Comparison of Computed Tomography derived Fractional Flow Reserve to invasive Fractional Flow Reserve in Diagnosis of Functional Coronary Stenosis: A Meta-Analysis.

    abstract：:Computed Tomography derived Fractional Flow Reserve (CTFFR) is an emerging non-invasive imaging modality to assess functional significance of coronary stenosis. We performed a meta-analysis to compare the diagnostic performance of CTFFR to invasive Fractional Flow reserve (FFR). Electronic search was performed to iden...

    journal_title：Scientific reports

    pub_type： 杂志文章,meta分析

    doi：10.1038/s41598-018-29910-9

    authors： Agasthi P,Kanmanthareddy A,Khalil C,Egbuche O,Yarlagadda V,Sachdeva R,Arsanjani R

    更新日期：2018-08-01 00:00:00

  • Evidence for trivial Berry phase and absence of chiral anomaly in semimetal NbP.

    abstract：:The discovery of Weyl semimetals (WSM) has brought forth the condensed matter realization of Weyl fermions, which were previously theorized as low energy excitations in high energy particle physics. Recently, transition metal mono-pnictides are under intense investigation for understanding properties of inversion-symm...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep46062

    authors： Sudesh,Kumar P,Neha P,Das T,Patnaik S

    更新日期：2017-04-10 00:00:00