SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Hayashi Kenshi) "

Sökning: WFRF:(Hayashi Kenshi)

  • Resultat 1-2 av 2
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Masunaga, Kumi, et al. (författare)
  • Development of sensor surface with recognition of molecular substructure
  • 2008
  • Ingår i: Sensors and actuators. B, Chemical. - : Elsevier BV. - 0925-4005 .- 1873-3077. ; 130:1, s. 330-337
  • Tidskriftsartikel (refereegranskat)abstract
    • A biological olfaction system is one of the highest performance chemical sensing systems for low-molecular-weight compounds. An ability of recognizing a various molecular properties based on their structures is essential for a biological odor recognition process. For the development of a sensor mimicking the olfactory system, we have formed benzene-patterned self-assembled monolayer (SAM) on the sensor surface using SAMs with nanostructure that serves as adsorption sites for benzene ring, which is representative substructure of aromatics. The structure of the benzene-patterned SAM surface was analyzed by contact-angle measurement, ellipsometry, cyclic voltammetry (CV) and atomic force microscopy (AFM). Moreover, the electrodes evaluated as sensor surfaces with cyclic surface-polarization impedance (cSPI) sensor that measures changes in impedance of the electrode surface by adsorption of substances. The results of cSPI indicated the benzene-patterned SAM surface could distinguish benzene by recognizing of the hydrophobicity and the molecular size. © 2007 Elsevier B.V. All rights reserved.
  •  
2.
  • Walsh, Roddy, et al. (författare)
  • Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
  • 2021
  • Ingår i: Genetics in Medicine. - : Nature Publishing Group. - 1098-3600 .- 1530-0366. ; 23:1, s. 47-58
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate.Methods: We compared rare variant frequencies from 1847 LQTS (KCNQ1/KCNH2/SCN5A) and 3335 BrS (SCN5A) cases from the International LQTS/BrS Genetics Consortia to population-specific gnomAD data and developed disease-specific criteria for ACMG/AMP evidence classes-rarity (PM2/BS1 rules) and case enrichment of individual (PS4) and domain-specific (PM1) variants.Results: Rare SCN5A variant prevalence differed between European (20.8%) and Japanese (8.9%) BrS patients (p = 5.7 x 10(-18)) and diagnosis with spontaneous (28.7%) versus induced (15.8%) Brugada type 1 electrocardiogram (ECG) (p = 1.3 x 10(-13)). Ion channel transmembrane regions and specific N-terminus (KCNH2) and C-terminus (KCNQ1/KCNH2) domains were characterized by high enrichment of case variants and >95% probability of pathogenicity. Applying the customized rules, 17.4% of European BrS and 74.8% of European LQTS cases had (likely) pathogenic variants, compared with estimated diagnostic yields (case excess over gnomAD) of 19.2%/82.1%, reducing VUS prevalence to close to background rare variant frequency.Conclusion: Large case-control data sets enable quantitative implementation of ACMG/AMP guidelines and increased sensitivity for inherited arrhythmia genetic testing.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-2 av 2

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy